Peter Robinson, Sebastian Koehler, Sandra Doelken, Chris Mungall, Melissa Haendel, Nicole Vasilevsky, Monarch Initiative, et al. Please see license of HPO at http://www.human-phenotype-ontology.org has_part human_phenotype Peter N Robinson Mark Engelstad Sandra Doelken Peter Robinson, Sebastian Koehler, The Human Phenotype Ontology Consortium, and The Monarch Initiative Sebastian Koehler Phenotypic abnormalities encountered in human disease Chris Mungall Joie Davis Courtney Hum Melissa Haendel Nicole Vasilevsky The Monarch Initiative The Human Phenotype Ontology Consortium see http://www.human-phenotype-ontology.org obsolete 2018-05-05T19:01:17Z peter display label 2018-07-05T13:18:08Z peter UK spelling abbreviation plural form definition term replaced by Core clinical terminology Consequence of a disorder in another organ system. layperson term subset_property consider has_alternative_id has_broad_synonym database_cross_reference has_exact_synonym has_narrow_synonym has_obo_format_version has_obo_namespace has_related_synonym in_subset logical-definition-view-relation shorthand part of BFO:0000050 part_of part_of has part BFO:0000051 has_part has_part occurs in BFO:0000066 occurs_in occurs_in inheres in RO:0000052 inheres_in inheres_in has participant RO:0000057 has_participant has_participant inheres in part of RO:0002314 inheres_in_part_of inheres_in_part_of towards RO:0002503 towards towards has modifier RO:0002180 placeholder relation to indicate normality/abnormality. qualifier qualifier adjacent_to adjacent_to contained in contained_in during during results in results_in All HP:0000001 Root of all terms in the Human Phenotype Ontology. UMLS:C0444868 human_phenotype Abnormality of body height 2008-02-27T02:20:00Z Abnormality of body height Deviation from the norm of height with respect to that which is expected according to age and gender norms. HP:0000002 UMLS:C4025901 human_phenotype peter Abnormality of body height Deviation from the norm of height with respect to that which is expected according to age and gender norms. HPO:probinson Multicystic kidney dysplasia HP:0000003 HP:0004715 MSH:D021782 Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional. Multicystic dysplastic kidney Multicystic kidney dysplasia is the result of abnormal fetal renal development in which the affected kidney is replaced by multiple cysts and has little or no residual function. The vast majority of multicystic kidneys are unilateral. Multicystic kidney can be diagnosed on prenatal ultrasound. Multicystic kidneys Multicystic renal dysplasia SNOMEDCT_US:204962002 SNOMEDCT_US:82525005 UMLS:C3714581 human_phenotype HPO:curators Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional. Mode of inheritance HP:0000005 HP:0001453 HP:0001461 Inheritance The pattern in which a particular genetic trait or disorder is passed from one generation to the next. UMLS:C1708511 human_phenotype HPO:probinson The pattern in which a particular genetic trait or disorder is passed from one generation to the next. Autosomal dominant inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant Autosomal dominant form Autosomal dominant type HP:0000006 HP:0001415 HP:0001447 HP:0001448 HP:0001451 HP:0001455 HP:0001456 HP:0001463 SNOMEDCT_US:263681008 UMLS:C0443147 human_phenotype Autosomal dominant type HPO:skoehler A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. HPO:curators Autosomal dominant form HPO:skoehler Autosomal recessive inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive Autosomal recessive form Autosomal recessive predisposition HP:0000007 HP:0001416 HP:0001526 SNOMEDCT_US:258211005 UMLS:C0441748 UMLS:C4020899 human_phenotype A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). HPO:probinson Autosomal recessive form HPO:skoehler Abnormality of female internal genitalia An abnormality of the female internal genitalia. HP:0000008 UMLS:C4025900 human_phenotype An abnormality of the female internal genitalia. HPO:probinson Functional abnormality of the bladder Dysfunction of the urinary bladder. HP:0000009 HP:0004424 HP:0008731 Poor bladder function UMLS:C3806583 human_phenotype Dysfunction of the urinary bladder. HPO:probinson Recurrent urinary tract infections Frequent urinary tract infections HP:0000010 HP:0000094 Repeated infections of the urinary tract. SNOMEDCT_US:197927001 The urinary tract comprises the kidneys, ureters, a bladder, and a urethra. UMLS:C0262655 Urinary infection Urinary tract infection Urinary tract infections Urinary tract infections, recurrent human_phenotype Urinary infection Urinary tract infections Urinary tract infection Frequent urinary tract infections HPO:skoehler Urinary tract infections, recurrent HPO:probinson Repeated infections of the urinary tract. Neurogenic bladder An inability to completely empty the urinary bladder during the process of urination owing to a neurological condition. HP:0000011 MSH:D001750 SNOMEDCT_US:397732007 SNOMEDCT_US:398064005 UMLS:C0005697 human_phenotype An inability to completely empty the urinary bladder during the process of urination owing to a neurological condition. HPO:probinson Urinary urgency HP:0000012 Overactive bladder syndrome SNOMEDCT_US:75088002 UMLS:C0085606 UMLS:C3544092 UMLS:C4020898 Urge incontinence is the strong, sudden need to urinate. Urgency frequency syndrome Urinary urgency Urinary urgency is the strong, sudden need to urinate and is usually due to bladder spasms or contractions. This symptom is suggestive of, but not necessarily conclusive for urodynamically demonstrable detrusor hyperactivity. human_phenotype Overactive bladder Urinary urgency ORCID:0000-0002-0736-9199 Overactive bladder HPO:probinson Urge incontinence is the strong, sudden need to urinate. pmid:12559262 Hypoplasia of the uterus HP:0000013 HP:0001154 HP:0008637 Hypoplastic uterus Rudimentary uterus SNOMEDCT_US:35850006 UMLS:C0266399 Underdevelopment of the uterus. human_phenotype Small uterus Underdeveloped uterus HPO:probinson Underdevelopment of the uterus. Small uterus ORCID:0000-0001-5208-3432 ORCID:0000-0001-5208-3432 Underdeveloped uterus Abnormality of the bladder An abnormality of the urinary bladder. HP:0000014 UMLS:C0149632 human_phenotype An abnormality of the urinary bladder. HPO:probinson Bladder diverticulum Diverticulum (sac or pouch) in the wall of the urinary bladder. HP:0000015 MSH:C562406 SNOMEDCT_US:197866008 UMLS:C0156273 human_phenotype Bladder diverticula Diverticulum (sac or pouch) in the wall of the urinary bladder. HPO:probinson HPO:skoehler Bladder diverticula Urinary retention HP:0000016 Inability to completely empty the urinary bladder during the process of urination. Increased post-void residual urine volume MSH:D016055 SNOMEDCT_US:130951007 SNOMEDCT_US:267064002 SNOMEDCT_US:449491000124101 UMLS:C0080274 Urinary retention is the inability of the urinary bladder to empty. The cause may be neurologic or nonneurologic. human_phenotype HPO:probinson Inability to completely empty the urinary bladder during the process of urination. Nocturia Abnormally increased production of urine during the night leading to an unusually frequent need to urinate. HP:0000017 MSH:D053158 Nycturia Often occuring as a result of heart insufficiency. SNOMEDCT_US:139394000 UMLS:C0028734 human_phenotype HPO:sdoelken Nycturia Abnormally increased production of urine during the night leading to an unusually frequent need to urinate. HPO:sdoelken Urinary hesitancy Difficulty in beginning the process of urination. HP:0000019 SNOMEDCT_US:5972002 UMLS:C0152032 human_phenotype Difficulty with flow Difficulty in beginning the process of urination. HPO:probinson ORCID:0000-0001-5208-3432 Difficulty with flow Urinary incontinence Bladder incontinence HP:0000020 HP:0006942 HP:0008681 Loss of the ability to control the urinary bladder leading to involuntary urination. MSH:D014549 SNOMEDCT_US:165232002 UMLS:C0042024 Urinary incontinence can be defined as the complaint of any involuntary leakage of urine. human_phenotype Loss of bladder control ORCID:0000-0001-5208-3432 Loss of bladder control HPO:sdoelken Loss of the ability to control the urinary bladder leading to involuntary urination. pmid:12559262 Megacystis Dilatation of the bladder postnatally. HP:0000021 HP:0002838 MSH:C536139 UMLS:C1855311 human_phenotype Dilatation of the bladder postnatally. HPO:probinson Abnormality of male internal genitalia An abnormality of the male internal genitalia. HP:0000022 The internal genital structures of the male including the testis, epididymis, vas deferens, seminal vesicle, ejaculatory duct, bulbourethral gland, and the prostate. UMLS:C4025899 human_phenotype An abnormality of the male internal genitalia. HPO:probinson Inguinal hernia HP:0000023 Inguinal hernia appears as a bulge in the groin. MEDDRA:10022016 MSH:D006552 Protrusion of the contents of the abdominal cavity through the inguinal canal. SNOMEDCT_US:396232000 UMLS:C0019294 human_phenotype HPO:probinson Protrusion of the contents of the abdominal cavity through the inguinal canal. Inguinal hernia MEDDRA:10022016 Prostatitis HP:0000024 MSH:D011472 SNOMEDCT_US:9713002 The presence of inflammation of the prostate. UMLS:C0033581 human_phenotype Inflammation of the prostate HPO:probinson The presence of inflammation of the prostate. Inflammation of the prostate ORCID:0000-0001-5208-3432 Functional abnormality of male internal genitalia HP:0000025 UMLS:C4025898 human_phenotype Male hypogonadism Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis. HP:0000026 HP:0008649 MSH:D005058 SNOMEDCT_US:48723006 UMLS:C0151721 human_phenotype Decreased function of male gonad ORCID:0000-0001-5208-3432 Decreased function of male gonad Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis. HPO:probinson Azoospermia Absence of any measurable level of sperm in his semen. HP:0000027 MSH:D053713 SNOMEDCT_US:425558002 SNOMEDCT_US:48188009 UMLS:C0004509 human_phenotype Absent sperm in semen ORCID:0000-0001-5208-3432 Absent sperm in semen Absence of any measurable level of sperm in his semen. HPO:probinson pmid:20514278 Cryptorchidism HP:0000028 HP:0000797 MSH:D003456 SNOMEDCT_US:204878001 Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis. UMLS:C0010417 Undescended testes Undescended testis human_phenotype The gonad is mobile and can be retracted superiorly by the cremaster muscle reflex stimulated, for instance, by cold or touch. A retracted testis is not cryptorchidism. An abdominal testis cannot be distinguished by physical examination from an (Apparently) absent testis and requires radiological (or, rarely, surgical) procedures for assessment. Cryptorchism Fyler:4493 Cryptorchism ORCID:0000-0001-5208-3432 Undescended testes HPO:probinson Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis. pmid:23650202 Undescended testis Testicular atrophy HP:0000029 SNOMEDCT_US:17585008 UMLS:C0156312 Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility. human_phenotype Testicular degeneration HPO:probinson Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility. Testicular degeneration ORCID:0000-0001-5208-3432 Testicular gonadoblastoma Gonadoblastoma, male HP:0000030 The presence of a gonadoblastoma of the testis. UMLS:C1515283 human_phenotype HPO:probinson The presence of a gonadoblastoma of the testis. Epididymitis HP:0000031 MSH:D004823 SNOMEDCT_US:31070006 The presence of inflammation of the epididymis. UMLS:C0014534 human_phenotype HPO:probinson The presence of inflammation of the epididymis. Abnormality of male external genitalia An abnormality of male external genitalia. HP:0000032 UMLS:C4025897 human_phenotype An abnormality of male external genitalia. HPO:probinson Ambiguous genitalia, male Ambiguous genitalia in an individual with XY genetic gender. Ambiguous genitalia in males HP:0000033 UMLS:C4021823 human_phenotype Ambiguous genitalia in an individual with XY genetic gender. HPO:probinson Ambiguous genitalia in males Hydrocele testis Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis. HP:0000034 MSH:D006848 SNOMEDCT_US:26614003 SNOMEDCT_US:386152007 SNOMEDCT_US:55434001 Testicular hydrocele UMLS:C1720771 human_phenotype Hydrocele Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis. HPO:probinson Abnormality of the testis Abnormality of the testis An anomaly of the testicle (the male gonad). Anomaly of the testes HP:0000035 SNOMEDCT_US:55631001 UMLS:C0266423 human_phenotype Abnormality of the testis An anomaly of the testicle (the male gonad). HPO:probinson Abnormality of the penis Abnormality of the penis HP:0000036 UMLS:C4025896 human_phenotype Abnormality of the penis Male pseudohermaphroditism HP:0000037 Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes. MSH:D058490 SNOMEDCT_US:111332007 UMLS:C0238395 human_phenotype HPO:curators Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes. Epispadias Displacement of the urethral opening on the dorsal (superior) surface of the penis. HP:0000039 SNOMEDCT_US:406477003 UMLS:C0563449 human_phenotype Epispadias may be present in a phenotypic male, female, or an individual with ambiguous genitalia. A meatus in a phenotypic male may be positioned either on the glans (glandular or balanic epispadias), the shaft (penile epispadias) or at the attachment of the penis to the abdominal wall (penopubic epispadias). Alternatively, the urethra may be an open groove along the dorsal shaft of the penis, with no readily recognized meatus. Epispadias is a frequent component of Bladder exstrophy, but should be coded separately. Displacement of the urethral opening on the dorsal (superior) surface of the penis. HPO:probinson pmid:23650202 Long penis Enlarged penis HP:0000040 Long penis SNOMEDCT_US:88673001 UMLS:C0269011 human_phenotype Penile length is the distance between the midline attachment of the gently stretched, flaccid penis above the pubic symphysis and tip of the glans. Penile length more than 2 SD above the mean for age. Enlarged penis Long penis Chordee HP:0000041 SNOMEDCT_US:4287008 UMLS:C0221182 Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees. human_phenotype The degree of variation of penis curvature is a continuum, but traditionally 30 degrees is considered the threshold for surgical intervention on chordee. Bowing usually becomes more obvious in an erect penis, but is frequently also palpable when stretching a flaccid penis. Chordee can be congenital or acquired; if the former, it can be associated with Webbed Penis or Hypospadias, which should be coded separately. HPO:probinson Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees. pmid:23650202 Absent external genitalia Absent external genitalia HP:0000042 Lack of external genitalia in a male or female individual. UMLS:C1848869 human_phenotype Absent external genitalia HPO:probinson Lack of external genitalia in a male or female individual. Hypogonadotrophic hypogonadism HP:0000044 HP:0008224 Hypogonadism, hypogonadotropic Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). Isolated hypogonadotropic hypogonadism MSH:D007006 SNOMEDCT_US:33927004 UMLS:C0271623 UMLS:C3489396 human_phenotype Low gonadotropins (secondary hypogonadism) HP:0003335 HPO:probinson Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). Abnormality of the scrotum HP:0000045 UMLS:C4025895 human_phenotype Scrotal hypoplasia HP:0000046 Hypoplastic scrotum SNOMEDCT_US:204912007 UMLS:C0431659 human_phenotype Smaller than typical growth of scrotum https://orcid.org/0000-0002-6548-5200 Smaller than typical growth of scrotum https://orcid.org/0000-0001-5208-3432 Hypospadias Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. HP:0000047 SNOMEDCT_US:204888000 UMLS:C1691215 human_phenotype Hypospadia Fyler:4504 Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. HPO:probinson PMID:21968448 ORCID:0000-0001-5208-3432 Hypospadia Bifid scrotum HP:0000048 Midline indentation or cleft of the scrotum. SNOMEDCT_US:236780002 UMLS:C0341787 human_phenotype A testis may or may not be present in each half of the scrotum. Scrotal cleft Cleft of scrotum HPO:probinson Midline indentation or cleft of the scrotum. pmid:23650202 Cleft of scrotum ORCID:0000-0001-5208-3432 Shawl scrotum HP:0000049 Overriding scrotum Superior margin of the scrotum superior to the base of the penis. UMLS:C1858539 human_phenotype A congenital overriding scrotum may disappear with growth and development, especially during puberty. If the entire scrotum is located superior to the penis, the term Penoscrotal transposition is used instead. HPO:probinson Superior margin of the scrotum superior to the base of the penis. pmid:23650202 Hypoplastic male external genitalia HP:0000050 HP:0008710 HP:0008721 Hypoplastic male genitalia Small male external genitalia UMLS:C1852534 Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra). human_phenotype Underdeveloped male genitalia Small male external genitalia Underdeveloped male genitalia ORCID:0000-0001-5208-3432 HPO:probinson Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra). Perineal hypospadias HP:0000051 Hypospadias with location of the urethral meatus in the perineal region. SNOMEDCT_US:204890004 UMLS:C0452148 human_phenotype HPO:probinson Hypospadias with location of the urethral meatus in the perineal region. pmid:8097257 Urethral atresia, male Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males. HP:0000052 UMLS:C4025894 human_phenotype Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males. HPO:probinson Macroorchidism HP:0000053 The presence of abnormally large testes. UMLS:C1263023 human_phenotype Large testicles Large testis Large testis HPO:probinson The presence of abnormally large testes. Micropenis Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. HP:0000038 HP:0000054 SNOMEDCT_US:34911001 Short penis Small penis UMLS:C0266435 human_phenotype Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. HPO:probinson pmid:15102623 Small penis Short penis Abnormality of female external genitalia An abnormality of the female external genitalia. HP:0000055 UMLS:C4021822 human_phenotype Abnormal female external genitalia Abnormal female external genitalia HPO:skoehler An abnormality of the female external genitalia. HPO:probinson Abnormality of the clitoris An abnormality of the clitoris. HP:0000056 UMLS:C4025893 human_phenotype Abnormality of the clit An abnormality of the clitoris. HPO:probinson Abnormality of the clit ORCID:0000-0001-5208-3432 obsolete Clitoromegaly true HP:0008665 Abnormality of the labia An anomaly of the labia, the externally visible portions of the vulva. HP:0000058 UMLS:C4025892 human_phenotype An anomaly of the labia, the externally visible portions of the vulva. HPO:probinson Hypoplastic labia majora HP:0000059 Hypoplasia of labia majora SNOMEDCT_US:289469003 Small labia majora UMLS:C0566899 Undergrowth of the outer labia. human_phenotype Underdeveloped vaginal lips ORCID:0000-0001-5208-3432 Underdeveloped vaginal lips Small labia majora HPO:probinson Undergrowth of the outer labia. Clitoral hypoplasia Developmental hypoplasia of the clitoris. HP:0000060 Hypoplastic clitoris Small clitoris UMLS:C1844527 human_phenotype Underdeveloped clit Developmental hypoplasia of the clitoris. HPO:probinson ORCID:0000-0001-5208-3432 Underdeveloped clit Small clitoris Ambiguous genitalia, female Ambiguous genitalia due to virilization Ambiguous genitalia in an individual with XX genetic gender. HP:0000061 HP:0008690 UMLS:C1859980 UMLS:C4025891 human_phenotype Atypical appearance of female genitals Ambiguous genitalia in an individual with XX genetic gender. HPO:probinson Atypical appearance of female genitals https://orcid.org/0000-0002-6548-5200 Ambiguous genitalia A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4. Ambiguous external genitalia Ambiguous external genitalia at birth HP:0000062 HP:0008685 HP:0008693 MSH:D012734 Note that this term can include or combine variations in size and shape, with partial or complete absence of structures. It is preferable to describe the individual components, which are defined below. It is nonetheless a widely used bundled term and as such is retained here. The distinction of this finding from a marked degree of Hypospadias is an example of how this term can be problematic. Genetic gender is determined at fertilization, whereby the presence of a Y chromosome determines male gender. Normally, genetic gender determines gonadal gender which in turn determines phenotypic gender. Testicular development is an active process requiring expression of the primary testis determining gene SRY, which is located on the Y chromosome. SNOMEDCT_US:21321009 UMLS:C0266362 human_phenotype Intersex genitalia Ambiguous external genitalia at birth Ambiguous external genitalia A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4. HPO:probinson pmid:15102623 Intersex genitalia Fused labia minora Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction. HP:0000063 UMLS:C1837532 human_phenotype Fused inner lips Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction. HPO:curators ORCID:0000-0001-5208-3432 Fused inner lips Hypoplastic labia minora HP:0000064 UMLS:C1849295 human_phenotype Underdeveloped inner lips Underdeveloped inner lips ORCID:0000-0001-5208-3432 Labial hypertrophy HP:0000065 SNOMEDCT_US:16924008 UMLS:C0404531 human_phenotype Enlargement of the vaginal lips Enlargement of the labia ORCID:0000-0001-5208-3432 Enlargement of the labia ORCID:0000-0001-5208-3432 Enlargement of the vaginal lips Labial hypoplasia HP:0000066 Hypoplastic labia UMLS:C1850325 human_phenotype Underdeveloped labia Underdeveloped labia ORCID:0000-0001-5208-3432 Urethral atresia, female Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females. HP:0000067 UMLS:C4025890 human_phenotype Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females. HPO:probinson Urethral atresia Congenital anomaly characterized by closure or failure to develop an opening in the urethra. HP:0000068 UMLS:C1610065 human_phenotype Congenital anomaly characterized by closure or failure to develop an opening in the urethra. HPO:probinson Abnormality of the ureter Abnormality of the ureters An abnormality of the ureter. HP:0000069 HP:0006001 UMLS:C1840382 Ureteral anomalies human_phenotype Ureter issue An abnormality of the ureter. HPO:probinson Ureterocele A ureterocele is a congenital saccular dilatation of the distal segment of the ureter. HP:0000070 MSH:D014518 SNOMEDCT_US:12818004 UMLS:C0041960 human_phenotype A ureterocele is a congenital saccular dilatation of the distal segment of the ureter. eMedicine:453993 Ureteral stenosis HP:0000071 SNOMEDCT_US:95574003 The presence of a stenotic, i.e., constricted ureter. UMLS:C0521618 human_phenotype Narrowing of the ureter ORCID:0000-0001-5208-3432 Narrowing of the ureter HPO:probinson The presence of a stenotic, i.e., constricted ureter. Hydroureter HP:0000072 HP:0006003 Megaureter SNOMEDCT_US:69758005 SNOMEDCT_US:95576001 The distention of the ureter with urine. UMLS:C0521620 UMLS:C4020897 Ureteral dilatation Uroureter human_phenotype Swelling of ureter Swelling of ureter https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 HPO:curators The distention of the ureter with urine. Ureteral duplication A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder. Double ureter HP:0000073 SNOMEDCT_US:49496001 UMLS:C0221365 human_phenotype A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder. HPO:curators Double ureter Ureteropelvic junction obstruction Blockage of urine flow from the renal pelvis to the proximal ureter. HP:0000074 MSH:C537373 Pelviureteric junction obstruction SNOMEDCT_US:95575002 UMLS:C0521619 human_phenotype Blockage of urine flow from the renal pelvis to the proximal ureter. Eurenomics:ewuehl Renal duplication 2008-02-25T12:45:00Z A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters. HP:0000075 SNOMEDCT_US:30275001 Supernumerary kidney UMLS:C0266298 human_phenotype peter Extra kidney A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters. HPO:probinson Extra kidney ORCID:0000-0001-5208-3432 Vesicoureteral reflux Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes. HP:0000076 HP:0005998 HP:0006002 HP:0008667 MSH:D014718 SNOMEDCT_US:197811007 UMLS:C0042580 Ureteral reflux Ureteric reflux Vesicoureteric reflux human_phenotype Fyler:4510 Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes. HPO:probinson Abnormality of the kidney Abnormality of the kidney An abnormality of the kidney. HP:0000077 MSH:D007674 Renal anomalies Renal anomaly SNOMEDCT_US:44513007 SNOMEDCT_US:90708001 The kidney is a paired organ whose primary function is the production of urine. UMLS:C0022658 UMLS:C0266292 human_phenotype Abnormal kidney Abnormality of the kidney Abnormal kidney An abnormality of the kidney. HPO:probinson Abnormality of the genital system Abnormality of the reproductive system An abnormality of the genital system. Genital abnormalities Genital abnormality Genital anomalies Genital defects HP:0000078 UMLS:C0281966 UMLS:C0744356 human_phenotype Genital defects An abnormality of the genital system. HPO:probinson Genital abnormalities Genital abnormality Abnormality of the reproductive system Genital anomalies Abnormality of the urinary system An abnormality of the urinary system. HP:0000079 UMLS:C4021821 Urinary tract abnormalities Urinary tract abnormality Urinary tract anomalies human_phenotype Urinary tract abnormality An abnormality of the urinary system. HPO:probinson Urinary tract abnormalities Urinary tract anomalies Abnormality of reproductive system physiology Abnormality of reproductive system physiology An abnormal functionality of the genital system. Genital functional abnormality HP:0000080 UMLS:C4020896 UMLS:C4021820 human_phenotype Abnormality of genital physiology Genital functional abnormality An abnormal functionality of the genital system. HPO:probinson Abnormality of genital physiology Abnormality of reproductive system physiology Duplicated collecting system 2008-02-25T12:45:00Z A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice. Double collecting system Double urinary collecting systems on intravenous pyelography Duplicated renal collecting system HP:0000081 UMLS:C1858565 human_phenotype peter Duplex collecting system A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice. HPO:probinson Renal insufficiency A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. HP:0000083 HP:0000084 HP:0004723 MSH:D051437 Renal failure Renal failure in adulthood SNOMEDCT_US:236423003 SNOMEDCT_US:42399005 UMLS:C0035078 UMLS:C1565489 UMLS:C1839604 human_phenotype A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. HPO:probinson Renal failure in adulthood Renal failure Horseshoe kidney A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. HP:0000085 Horseshoe kidney Horseshoe kidneys MSH:D000069337 SNOMEDCT_US:41729002 UMLS:C0221353 human_phenotype Fused kidneys Fyler:4507 A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. HPO:probinson Horseshoe kidneys Horseshoe kidney Ectopic kidney A developmental defect in which a kidney is located in an abnormal anatomic position. Displaced kidney Ectopic kidneys HP:0000086 Renal ectopia SNOMEDCT_US:16507009 UMLS:C0238207 human_phenotype Abnormal kidney location A developmental defect in which a kidney is located in an abnormal anatomic position. HPO:probinson Displaced kidney ORCID:0000-0001-5208-3432 Abnormal kidney location Renal hypoplasia HP:0000089 HP:0001968 HP:0004741 HP:0008641 Hypoplasia of the kidney. Hypoplastic kidney Hypoplastic kidneys Oligomeganephronic renal hypoplasia differs from simple hypoplasia, in which the renal mass is reduced but the number of nephrons is normal. SNOMEDCT_US:32659003 Small kidneys UMLS:C0266295 human_phenotype Underdeveloped kidneys Small kidneys HPO:probinson Hypoplasia of the kidney. Underdeveloped kidneys ORCID:0000-0001-5208-3432 Nephronophthisis HP:0000090 HP:0004748 Nephronophthisis is here regarded as a phenotypic feature. The disease of the same name results in progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli. Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. SNOMEDCT_US:204958008 UMLS:C0687120 human_phenotype juvenile nephronophthisis Eurenomics:fschaefer Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. Abnormality of the renal tubule An abnormality of the renal tubules. HP:0000091 The renal tubules are reabsorptive canals that are involved in the secreting, collecting, and conducting of the urine. UMLS:C4021826 human_phenotype An abnormality of the renal tubules. HPO:probinson Tubular atrophy HP:0000092 HP:0005578 Renal tubular cell atrophy The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules. UMLS:C1858395 human_phenotype HPO:probinson The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules. Proteinuria HP:0000093 Increased levels of protein in the urine. MSH:D011507 SNOMEDCT_US:29738008 UMLS:C0033687 human_phenotype Protein in urine High urine protein levels HPO:probinson Increased levels of protein in the urine. High urine protein levels ORCID:0000-0001-5208-3432 Protein in urine Abnormality of renal glomerulus morphology A structural anomaly of the glomerulus. HP:0000095 UMLS:C4025889 human_phenotype A structural anomaly of the glomerulus. Eurenomics:ewuehl Glomerulosclerosis Accumulation of scar tissue within the glomerulus. HP:0000096 SNOMEDCT_US:197661001 SNOMEDCT_US:82646005 UMLS:C0178664 human_phenotype HP:0030761 Renal glomerular fibrosis Accumulation of scar tissue within the glomerulus. Eurenomics:fschaefer Focal segmental glomerulosclerosis Focal and segmental glomerular sclerosis Focal and segmental glomerulosclerosis HP:0000097 HP:0004747 MSH:D005923 SNOMEDCT_US:236403004 SNOMEDCT_US:25821008 Segmental accumulation of scar tissue in individual (but not all) glomeruli. UMLS:C0017668 focal glomerulosclerosis human_phenotype Eurenomics:fschaefer Segmental accumulation of scar tissue in individual (but not all) glomeruli. Tall stature 2008-02-27T02:21:00Z A height above that which is expected according to age and gender norms. Accelerated linear growth HP:0000098 HP:0001527 HP:0003515 HP:0003516 Increased body height Increased linear growth SNOMEDCT_US:248328003 Tall stature UMLS:C0241240 human_phenotype peter A height above that which is expected according to age and gender norms. HPO:probinson Tall stature Increased body height Glomerulonephritis Glomerular nephritis HP:0000099 Inflammation of the renal glomeruli. MSH:D005921 SNOMEDCT_US:36171008 UMLS:C0017658 human_phenotype HPO:probinson Inflammation of the renal glomeruli. Nephrotic syndrome HP:0000100 HP:0000801 HP:0004718 HP:0008638 HP:0008727 In adults, nephrotic syndrome is characterized by protein excretion of 3.5 g or more per day. In children, nephrotic syndrome is accompanied by protein excretion of more than 40 mg/m2/h. MSH:D009404 Nephrosis Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. SNOMEDCT_US:52254009 UMLS:C0027726 human_phenotype HPO:probinson Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. Polyuria An excessive volume of urination for an adult is more than 2.5 liters of urine per day. An increased rate of urine production. HP:0000103 HP:0200060 Increased urine output MSH:D011141 SNOMEDCT_US:28442001 SNOMEDCT_US:56574000 SNOMEDCT_US:718402002 UMLS:C0032617 human_phenotype Increased urine output An increased rate of urine production. HPO:probinson Renal agenesis Absent kidney Agenesis, that is, failure of the kidney to develop during embryogenesis and development. HP:0000104 HP:0000785 HP:0004745 HP:0008680 Renal agenesis can occur as a unilateral or bilateral trait. Renal aplasia SNOMEDCT_US:204942005 UMLS:C0542519 human_phenotype Missing kidney Fyler:4503 Absent kidney Agenesis, that is, failure of the kidney to develop during embryogenesis and development. HPO:probinson Missing kidney ORCID:0000-0001-6908-9849 Enlarged kidney An abnormal increase in the size of the kidney. Enlarged kidney HP:0000105 Large kidney Large kidneys Nephromegaly Renal enlargement SNOMEDCT_US:300444006 The main causes of large kidney are hydronephrosis, polycystic disease, renal cell carcinoma, nephroblastoma/Wilm's tumor (in children), and solitary cysts. If possible, a specific term should be used instead of this one. There are several ways of diagnosing enlarged kidney including intravenous urography. UMLS:C0542518 human_phenotype An abnormal increase in the size of the kidney. HPO:probinson Large kidneys Enlarged kidney Renal cyst A fluid filled sac in the kidney. Cystic kidney disease HP:0000088 HP:0000107 HP:0000109 MSH:D052177 Renal cysts UMLS:C0022679 UMLS:C3887499 human_phenotype Kidney cyst Cystic kidneys https://orcid.org/0000-0002-6548-5200 https://orcid.org/0000-0001-5208-3432 Kidney cyst Cystic kidney disease HPO:skoehler Cystic kidneys A fluid filled sac in the kidney. Eurenomics:fschaefer HPO:skoehler Renal cysts Renal corticomedullary cysts Corticomedullary renal cysts HP:0000108 Renal corticomedullary cystic disease The presence of multiple cysts at the border between the renal cortex and medulla. UMLS:C1968619 human_phenotype HPO:probinson The presence of multiple cysts at the border between the renal cortex and medulla. Renal dysplasia Dysplastic kidneys HP:0000110 HP:0000116 HP:0004721 MSH:C563261 Renal adysplasia SNOMEDCT_US:204949001 The presence of developmental dysplasia of the kidney. UMLS:C1619700 UMLS:C3536714 human_phenotype HPO:probinson The presence of developmental dysplasia of the kidney. Renal juxtaglomerular cell hypertrophy/hyperplasia HP:0000111 Increased number and size of the juxtaglomerular cells. UMLS:C1866496 human_phenotype Eurenomics:ewuehl Increased number and size of the juxtaglomerular cells. Nephropathy A nonspecific term referring to disease or damage of the kidneys. HP:0000112 MSH:D007674 SNOMEDCT_US:90708001 UMLS:C0022658 UMLS:C1408258 human_phenotype Kidney damage Kidney disease ORCID:0000-0001-6908-9849 Kidney damage A nonspecific term referring to disease or damage of the kidneys. HPO:curators Kidney disease https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Polycystic kidney dysplasia Enlarged polycystic kidneys HP:0000113 HP:0004716 HP:0004739 HP:0004740 HP:0008645 HP:0008673 HP:0008699 MSH:D007690 Polycystic kidney disease Polycystic kidney disease (PKD) is a leading cause of end-stage renal disease. Most commonly, PKD arises as an inherited trait. Tremendous enlargement of both kidneys is characteristic of the autosomal dominant form of PKD, with up to hundreds or thousands of renal cysts. This term does not refer to the disease entity but rather to the finding of numerous cysts in both kidneys. Polycystic kidneys SNOMEDCT_US:82525005 The presence of multiple cysts in both kidneys. UMLS:C0022680 UMLS:C1567435 human_phenotype Fyler:4508 HPO:probinson The presence of multiple cysts in both kidneys. Proximal tubulopathy Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle. HP:0000114 HP:0000806 Proximal renal tubule defect Proximal renal tubulopathy Proximal tubular defect Proximal tubule dysfunction Selective proximal tubular damage UMLS:C1839603 human_phenotype Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle. HPO:probinson Renal phosphate wasting Decreased renal tubular phosphate reabsorption Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate HP:0000117 High urine phosphate in the presence of hypophosphatemia. Tubular phosphate reabsorption low UMLS:C1845169 human_phenotype HPO:probinson High urine phosphate in the presence of hypophosphatemia. Phenotypic abnormality A phenotypic abnormality. HP:0000118 Organ abnormality This is the root of the phenotypic abnormality subontology of the HPO. UMLS:C4021819 human_phenotype A phenotypic abnormality. HPO:probinson Abnormality of the genitourinary system Genitourinary abnormality Genitourinary disease Genitourinary dysplasia Genitourinary tract anomalies Genitourinary tract malformation HP:0000119 HP:0008658 HP:0008688 HP:0008704 HP:0008713 MSH:D014564 SNOMEDCT_US:287085006 SNOMEDCT_US:42030000 The presence of any abnormality of the genitourinary system. UMLS:C0042063 UMLS:C0080276 UMLS:C4020895 Urogenital abnormalities Urogenital anomalies human_phenotype HPO:curators The presence of any abnormality of the genitourinary system. Nephrocalcinosis HP:0000121 MSH:D009397 Nephrocalcinosis can be intratubular or interstitial, and can be diagnosed by means of a radiologic exam (plain radiographs, ultrasonograms, or computed tomography scans) or via microscopic examination of the renal tissues. The term nephrocalcinosis most often applies to a generalized increase in renal calcium content. Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. SNOMEDCT_US:48638002 UMLS:C0027709 UMLS:C4280679 human_phenotype Too much calcium deposited in kidneys Increased calcium level in kidney HPO:probinson Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. https://orcid.org/0000-0002-6548-5200 Too much calcium deposited in kidneys https://orcid.org/0000-0001-5208-3432 ORCID:0000-0001-5208-3432 Increased calcium level in kidney Unilateral renal agenesis A unilateral form of agenesis of the kidney. HP:0000122 SNOMEDCT_US:55726006 UMLS:C0266294 Unilateral kidney agenesis human_phenotype Missing one kidney Fyler:4509 Single kidney Absent kidney on one side A unilateral form of agenesis of the kidney. HPO:probinson ORCID:0000-0001-6908-9849 Absent kidney on one side Missing one kidney ORCID:0000-0001-6908-9849 Single kidney Nephritis HP:0000123 HP:0008634 MSH:D009393 SNOMEDCT_US:52845002 The presence of inflammation affecting the kidney. UMLS:C0027697 human_phenotype Kidney inflammation HPO:probinson The presence of inflammation affecting the kidney. ORCID:0000-0001-6908-9849 Kidney inflammation Renal tubular dysfunction HP:0000124 Renal tubular defect Renal tubular disease SNOMEDCT_US:95568003 UMLS:C0151747 human_phenotype Pelvic kidney A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis. HP:0000125 SNOMEDCT_US:56108007 UMLS:C0221209 human_phenotype Sacral kidney A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis. HPO:probinson ORCID:0000-0001-6908-9849 Sacral kidney Hydronephrosis HP:0000126 Hydronephrosis can be caused by reflux or by retrograde pressure on the kidney when the flow of urine is obstructed. MSH:D006869 SNOMEDCT_US:43064006 Severe distention of the kidney with dilation of the renal pelvis and calices. UMLS:C0020295 human_phenotype Fyler:4502 HPO:probinson Severe distention of the kidney with dilation of the renal pelvis and calices. Renal salt wasting A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s). HP:0000127 Renal salt-wasting Salt wasting Salt-wasting UMLS:C1846347 human_phenotype A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s). Eurenomics:fschaefer Renal potassium wasting A urine potassium assay can be used to determine the cause of reduced serum potassium (hypokalemia). Normally, the kidney will reabsorb more potassium in the presence of hypokalemia. Therefore, a low urine potassium can suggest gastrointestinal potassium loss, poor dietary intake, or a shift of potassium from the extracellular to the intracellular space. On the other hand, a high urine potassium in the face of low serum potassium indicated renal loss, referred to as renal potassium wasting. HP:0000128 High urine potassium in the presence of hypokalemia. UMLS:C1846348 human_phenotype HPO:probinson High urine potassium in the presence of hypokalemia. Abnormality of the uterus Abnormality of the uterus An abnormality of the uterus. HP:0000130 HP:0008630 HP:0008692 MSH:C562565 SNOMEDCT_US:37849005 UMLS:C0266383 Uterine abnormalities Uterine malformations human_phenotype Uterine abnormalities An abnormality of the uterus. HPO:probinson Uterine malformations Abnormality of the uterus Uterine leiomyoma Benign uterine leiomyomas HP:0000131 HP:0008642 Leiomyoma is a benign neoplasm derived from smooth muscle cells. MSH:D007889 SNOMEDCT_US:146801000119103 SNOMEDCT_US:44598004 SNOMEDCT_US:95315005 The presence of a leiomyoma of the uterus. UMLS:C0042133 Uterine fibroid human_phenotype HPO:probinson The presence of a leiomyoma of the uterus. Menorrhagia HP:0000132 MSH:D008595 Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. SNOMEDCT_US:386692008 UMLS:C0025323 human_phenotype HP:0100609 Hypermenorrhea Abnormally heavy bleeding during menstruation pmid:22594864 Hypermenorrhea HPO:probinson Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. pmid:22594864 Abnormally heavy bleeding during menstruation ORCID:0000-0001-5208-3432 Gonadal dysgenesis HP:0000133 HP:0003243 MSH:D006059 MSH:D006060 Mixed gonadal dysgenesis Pure gonadal dysgenesis SNOMEDCT_US:205681004 SNOMEDCT_US:38804009 SNOMEDCT_US:83579008 SNOMEDCT_US:95219002 UMLS:C0018051 UMLS:C0018055 UMLS:C0687149 human_phenotype Female hypogonadism Decreased functionality of the female gonads, i.e., of the ovary. HP:0000134 Hypogonadism, female SNOMEDCT_US:16041008 UMLS:C0271578 human_phenotype Decreased functionality of the female gonads, i.e., of the ovary. HPO:probinson Hypogonadism A decreased functionality of the gonad. HP:0000135 MSH:D007006 Reduced functioning of the gonads (ovaries or testes) with reduced production of sex hormones. SNOMEDCT_US:48130008 UMLS:C0020619 human_phenotype Decreased activity of gonads ORCID:0000-0001-6908-9849 Decreased activity of gonads A decreased functionality of the gonad. HPO:curators Bifid uterus A uterus that is divided into two lateral horns as a result of imperfect fusion of the paramesonephric ducts. HP:0000136 The presence of a bifid uterus. UMLS:C1850327 human_phenotype HPO:probinson The presence of a bifid uterus. Abnormality of the ovary Abnormality of the ovaries Abnormality of the ovary An abnormality of the ovary. HP:0000137 MSH:D010049 Ovarian disease SNOMEDCT_US:5552004 UMLS:C0029928 UMLS:C4021818 human_phenotype Ovarian disease Abnormality of the ovary Abnormality of the ovaries An abnormality of the ovary. HPO:probinson Ovarian cyst Cystic abnormalities of the ovaries Cystic ovaries HP:0000138 HP:0000146 MSH:D010048 Ovarian cystic abnormality SNOMEDCT_US:79883001 The presence of one or more cysts of the ovary. UMLS:C0029927 human_phenotype Ovarian cyst HPO:probinson The presence of one or more cysts of the ovary. Ovarian cyst Uterine prolapse HP:0000139 HP:0100824 MSH:D014596 SNOMEDCT_US:24976005 The presence of prolapse of the uterus. The uterus (womb) is normally held in place by a muscles, tissue and ligaments. If these tissues can no longer support the uterus it can slip down from its normal position. UMLS:C0042140 human_phenotype Sagging uterus HPO:probinson The presence of prolapse of the uterus. Sagging uterus ORCID:0000-0001-6908-9849 Abnormality of the menstrual cycle Abnormality of the menstrual cycle An abnormality of the ovulation cycle. HP:0000140 Menstrual abnormalities UMLS:C3549779 UMLS:C4025888 human_phenotype Abnormality of the menstrual cycle An abnormality of the ovulation cycle. HPO:probinson Menstrual abnormalities Amenorrhea HP:0000141 UMLS:C2219717 human_phenotype Abnormal absence of menstruation Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months. Abnormal absence of menstruation ORCID:0000-0001-5208-3432 pmid:22594864 Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months. Abnormal vagina morphology Any structural abnormality of the vagina. HP:0000142 HP:0008650 UMLS:C1856023 Vaginal malformation human_phenotype Any structural abnormality of the vagina. HPO:probinson Rectovaginal fistula HP:0000143 MEDDRA:10051097 MSH:D012006 SNOMEDCT_US:65619001 The presence of a fistula between the vagina and the rectum. UMLS:C0034895 human_phenotype Rectovaginal fistula MEDDRA:10051097 HPO:probinson The presence of a fistula between the vagina and the rectum. Decreased fertility Decreased fertility HP:0000144 SNOMEDCT_US:17276009 UMLS:C0520927 human_phenotype Abnormal fertility Decreased fertility Abnormal fertility HPO:skoehler Transverse vaginal septum HP:0000145 Transverse vaginal membrane UMLS:C1856006 human_phenotype Polycystic ovaries HP:0000147 HP:0008644 HP:0008657 MSH:D011085 Polycystic ovary Polycystic ovary disease SNOMEDCT_US:69878008 Sclerocystic ovaries UMLS:C0032460 UMLS:C1136382 human_phenotype Vaginal atresia Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion. HP:0000148 SNOMEDCT_US:87380008 UMLS:C1321884 human_phenotype Abnormally closed or absent vagina https://orcid.org/0000-0002-6548-5200 Abnormally closed or absent vagina https://orcid.org/0000-0001-5208-3432 Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion. HPO:probinson Ovarian gonadoblastoma Gonadoblastoma is a rare benign tumor that has the potential for malignant transformation and affects a subset of patients with an intersex disorder or disorder of sex development. Gonadoblastoma, female HP:0000149 SNOMEDCT_US:716594002 The presence of a gonadoblastoma of the ovary. UMLS:C1518716 human_phenotype HPO:probinson The presence of a gonadoblastoma of the ovary. eMedicine:986581 Gonadoblastoma HP:0000150 HP:0006745 MSH:D018238 SNOMEDCT_US:74751003 The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements. UMLS:C0206661 human_phenotype HPO:probinson The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements. Aplasia of the uterus Absent uterus Aplasia of the uterus. HP:0000151 SNOMEDCT_US:248942000 UMLS:C0425913 human_phenotype uterus absent uterus absent Absent uterus Aplasia of the uterus. HPO:probinson Abnormality of head or neck Abnormality of head or neck An abnormality of head and neck. HP:0000152 Head and neck abnormality UMLS:C4021817 human_phenotype Abnormality of head or neck Head and neck abnormality An abnormality of head and neck. HPO:probinson Abnormality of the mouth Abnormality of the mouth An abnormality of the mouth. HP:0000153 MSH:D009056 SNOMEDCT_US:128334002 UMLS:C0026633 human_phenotype Abnormal mouth Abnormal mouth HPO:skoehler An abnormality of the mouth. HPO:probinson Abnormality of the mouth Wide mouth Broad mouth Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). HP:0000154 HP:0000181 HP:0002052 Large mouth MSH:D008265 Macrostomia SNOMEDCT_US:40159009 The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces macrostomia, large mouth, and large oral aperture because these terms imply a wide and open mouth. The term should not be used to describe a patient with a lateral oral cleft. UMLS:C0024433 Wide mouth human_phenotype Large oral aperture Broad mouth ORCID:0000-0001-5889-4463 Large oral aperture Wide mouth Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). pmid:19125428 Large mouth Oral ulcer Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. HP:0000155 MSH:D019226 SNOMEDCT_US:26284000 UMLS:C0149745 human_phenotype Mouth sore Mouth ulcer Mouth sore ORCID:0000-0001-5889-4463 Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. HPO:probinson Mouth ulcer ORCID:0000-0001-5889-4463 Abnormality of the tongue Abnormality of the tongue Any abnormality of the tongue. HP:0000157 Tongue abnormality UMLS:C0878638 human_phenotype Abnormal tongue Lingual abnormality Glossal abnormality Tongue abnormality Abnormal tongue HPO:skoehler Abnormality of the tongue Any abnormality of the tongue. HPO:probinson Glossal abnormality ORCID:0000-0001-5889-4463 Lingual abnormality ORCID:0000-0001-5889-4463 Macroglossia HP:0000158 HP:0000203 Hyperplasia of the tongue Hypertrophy of the tongue Increased length and width of the tongue. Large tongue MSH:D008260 Normal standards do not exist. Large size usually leads to protrusion of the tongue. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained. Micrognathia may give the false appearance of a large tongue. SNOMEDCT_US:25273001 Tongue hypertrophy UMLS:C0024421 human_phenotype Abnormally large tongue Lingual hyperplasia Increased size of tongue Lingual hypertrophy Glossal hypertrophy Large tongue Abnormally large tongue ORCID:0000-0001-5889-4463 Increased length and width of the tongue. pmid:19125428 ORCID:0000-0001-5889-4463 Glossal hypertrophy ORCID:0000-0001-5889-4463 Lingual hypertrophy ORCID:0000-0001-5889-4463 Lingual hyperplasia ORCID:0000-0001-5889-4463 Increased size of tongue Abnormal lip morphology Abnormality of the lip An abnormality of the lip. HP:0000159 Lip abnormality UMLS:C2183966 human_phenotype Abnormal lip Deformity of lip Malformation of lip Anomaly of lip Lip abnormality Abnormal lip HPO:skoehler An abnormality of the lip. HPO:probinson Malformation of lip ORCID:0000-0001-5889-4463 Deformity of lip ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Anomaly of lip Abnormality of the lip Narrow mouth Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). HP:0000160 HP:0002261 HP:0009095 HP:0009096 MSH:D008865 Microstomia Narrow mouth SNOMEDCT_US:14582003 Small mouth Small oral aperture The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces microstomia, small oral aperture, and small mouth because the reduced opening of the mouth is secondary to reduced width. UMLS:C0026034 human_phenotype Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). pmid:19125428 Narrow mouth Small mouth Median cleft lip A type of cleft lip presenting as a midline (median) gap in the upper lip. HP:0000161 Midline cleft lip UMLS:C1850256 human_phenotype Central cleft upper lip A type of cleft lip presenting as a midline (median) gap in the upper lip. HPO:probinson Central cleft upper lip ORCID:0000-0001-5889-4463 Glossoptosis HP:0000162 MSH:D065710 Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly. Presumably, use of the suffix ptosis refers to the situation where the patient is supine, and the displacement is downward. Strictly speaking, the term glossoptosis indicates falling of the tongue and thus can also be forward displacement; however by convention it is only used for backward displacement. Glossoptosis may cause obstruction of the airway. SNOMEDCT_US:3639002 UMLS:C0267048 UMLS:C4280678 human_phenotype Lingual retraction Retraction of the tongue Posterior displacement of the tongue ORCID:0000-0001-5889-4463 Retraction of the tongue Posterior displacement of the tongue ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Lingual retraction HPO:probinson Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly. pmid:19125428 Abnormal oral cavity morphology Abnormality of the oral cavity Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. HP:0000163 UMLS:C4025887 human_phenotype Abnormality of the oral cavity Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. HPO:probinson Abnormality of the dentition Abnormal dentition Abnormal teeth Any abnormality of the primary (deciduous) or permanent teeth. Any abnormality of the teeth. Dental abnormalities Dental abnormality Dental anomalies HP:0000164 HP:0001567 HP:0006296 HP:0006348 MSH:D014071 SNOMEDCT_US:422775003 Tooth abnormalities UMLS:C0040427 UMLS:C0262444 human_phenotype Abnormality of the teeth Dental problems Dental problem Dental abnormalities Dental abnormality Tooth abnormalities Abnormal teeth Dental problems Dental problem Any abnormality of the teeth. HPO:ibailleulforestier Abnormal dentition Dental anomalies Abnormality of the teeth Severe periodontitis A severe form of periodontitis. HP:0000166 UMLS:C4025886 human_phenotype Severe gum disease Severe periodontal disease Severe pyorrhea Severe periodontal disease ORCID:0000-0001-5889-4463 Severe pyorrhea ORCID:0000-0001-5889-4463 A severe form of periodontitis. HPO:probinson Severe gum disease ORCID:0000-0001-5889-4463 Abnormality of the gingiva Any abnormality of the gingiva (also known as gums). Gingival abnormality HP:0000168 The gingiva consists of the mucosal tissue that lies over the alveolar bone and around the base of the teeth. UMLS:C4021816 human_phenotype Abnormality of the gums ORCID:0000-0001-5889-4463 Abnormality of the gums Any abnormality of the gingiva (also known as gums). HPO:probinson Gingival fibromatosis Gingival fibroma Gingival fibromatosis is characterized by a slowly progressive benign enlargement of the oral gingival tissues. Both genetic and pharmacologically induced forms of gingival fibromatosis are known. The most common genetic form, hereditary gingival fibromatosis (HGF), is usually transmitted as an autosomal dominant trait, although sporadic cases are common and autosomal recessive inheritance has been reported. Gingival fibrous nodules HP:0000169 MSH:C562884 MSH:D005351 SNOMEDCT_US:109620006 SNOMEDCT_US:58569000 The presence of fibrosis of the gingiva. UMLS:C0016049 UMLS:C0399440 UMLS:C4280677 human_phenotype Idiopathic gingival hyperplasia Hereditary gingival fibromatosis HPO:probinson The presence of fibrosis of the gingiva. ORCID:0000-0001-5889-4463 Idiopathic gingival hyperplasia Gingival fibrous nodules HPO:curators Hereditary gingival fibromatosis ORCID:0000-0001-5889-4463 Microglossia Decreased length and width of the tongue. HP:0000171 HP:0000226 HP:0009079 Hypoglossia Hypoplasia of the tongue Hypoplastic tongue MSH:D014060 Normal standards do not exist. The term aglossia is often used for extremely small tongue, but a nubbin of tongue tissue is almost always present and aglossia in sensu strictu is extremely rare. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained. Rudimentary tongue SNOMEDCT_US:249380003 SNOMEDCT_US:32614006 Small tongue UMLS:C0025988 UMLS:C0426492 human_phenotype Underdevelopment of the tongue Lingual hypoplasia Abnormally small tongue Decreased size of tongue ORCID:0000-0001-5889-4463 Underdevelopment of the tongue ORCID:0000-0001-5889-4463 Abnormally small tongue Decreased length and width of the tongue. pmid:19125428 Abnormality of the uvula Abnormality of the uvula Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate. HP:0000172 UMLS:C4025885 human_phenotype Abnormality of palatine uvula Abnormality of the uvula Abnormality of palatine uvula ORCID:0000-0001-5889-4463 Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate. HPO:probinson Abnormal palate morphology Abnormality of the palate Any abnormality of the palate, i.e., of roof of the mouth. HP:0000174 Palate abnormality UMLS:C4021815 human_phenotype Palatal anomaly Abnormality of the roof of the mouth Any abnormality of the palate, i.e., of roof of the mouth. HPO:probinson Abnormality of the roof of the mouth ORCID:0000-0001-5889-4463 Abnormality of the palate Palatal anomaly https://orcid.org/0000-0001-5208-3432 Cleft palate Cleft palate Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Cleft palate is a developmental defect that occurs between the 7th and 12th week of pregnancy. Normally, the palatine processes fuse during this time to form the soft and hard palate. A failure of fusion results in a cleft palate. The clinical spectrum ranges from bifid uvula, to (incomplete or complete) cleft of the soft palate, up to (complete or incomplete) cleft of both the soft and hard palate. HP:0000175 MSH:D002972 SNOMEDCT_US:63567004 SNOMEDCT_US:87979003 UMLS:C0008925 UMLS:C2981150 human_phenotype Cleft hard and soft palate Cleft of hard and soft palate Palatoschisis Fyler:4876 Uranostaphyloschisis Cleft of palate ORCID:0000-0001-5889-4463 ORCID:0000-0001-5208-3432 Cleft of hard and soft palate ORCID:0000-0001-5889-4463 Uranostaphyloschisis Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). HPO:probinson Cleft palate Cleft of palate Facebase ORCID:0000-0001-5889-4463 Palatoschisis ORCID:0000-0001-5889-4463 Cleft hard and soft palate ORCID:0000-0001-5208-3432 Submucous cleft hard palate HP:0000176 HP:0000208 HP:0002746 HP:0009091 Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate. SNOMEDCT_US:43437003 Submucosal cleft palate Submucous clefting UMLS:C0432103 UMLS:C4020894 human_phenotype Partial thickness cleft hard palate Partial thickness cleft hard palate ORCID:0000-0001-5889-4463 HPO:probinson Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate. pmid:19779505 Abnormality of upper lip Abnormality of upper lip An abnormality of the upper lip. HP:0000177 UMLS:C4025884 human_phenotype Malformation of the upper lip Anomaly of the upper lip Deformity of the upper lip Anomaly of the upper lip ORCID:0000-0001-5889-4463 An abnormality of the upper lip. HPO:probinson ORCID:0000-0001-5889-4463 Malformation of the upper lip Deformity of the upper lip ORCID:0000-0001-5889-4463 Abnormality of upper lip Abnormality of lower lip Abnormality of lower lip An abnormality of the lower lip. HP:0000178 UMLS:C4025883 human_phenotype Deformity of the lower lip Malformation of the lower lip Anomaly of the lower lip Deformity of the lower lip ORCID:0000-0001-5889-4463 An abnormality of the lower lip. HPO:probinson ORCID:0000-0001-5889-4463 Malformation of the lower lip Abnormality of lower lip ORCID:0000-0001-5889-4463 Anomaly of the lower lip Thick lower lip vermilion Full lower lip HP:0000170 HP:0000179 Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective). Normal values for the height of the vermilion are available [Farkas, 1981] but measurements are not commonly used. Most clinicians determine this feature subjectively. The lower lip is typically thicker than the upper one. The height of the vermilion of the lower lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. When the vermilion is thick, it is more convex and more everted than usual on profile view, but that should be assessed separately. Prominent lower lip Thick lower lip UMLS:C1839739 UMLS:C2053437 human_phenotype Increased height of lower lip vermilion Full lower lip vermilion Increased volume of lower lip vermilion Thick vermilion border of lower lip Thick red part of the lower lip Increased volume of lower lip Plump lower lip Prominent lower lip vermilion ORCID:0000-0001-5889-4463 Prominent lower lip vermilion ORCID:0000-0001-5889-4463 Plump lower lip Full lower lip vermilion ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Increased height of lower lip vermilion ORCID:0000-0001-5889-4463 Increased volume of lower lip Prominent lower lip ORCID:0000-0001-5889-4463 Increased volume of lower lip vermilion Full lower lip Thick lower lip HPO:curators Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective). pmid:19125428 ORCID:0000-0001-5889-4463 Thick red part of the lower lip Lobulated tongue HP:0000180 Lobulate tongue Lobulated tongue can bilobed, trilobed, or show multiple lobes. Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour. SNOMEDCT_US:253752000 UMLS:C0431564 human_phenotype Bumpy tongue Lingual lobules Bumpy tongue ORCID:0000-0001-5889-4463 Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour. pmid:19125428 Lingual lobules ORCID:0000-0001-5889-4463 Movement abnormality of the tongue HP:0000182 Movement abnormality of the tongue UMLS:C4025882 human_phenotype Abnormality of lingual movement Abnormality of lingual movement ORCID:0000-0001-5889-4463 Movement abnormality of the tongue Difficulty in tongue movements Difficulty in tongue movements HP:0000183 UMLS:C1853406 UMLS:C4280676 human_phenotype Lingual hypokinesia Difficulty in lingual movements Hypokinesia of the tongue ORCID:0000-0001-5889-4463 Lingual hypokinesia Difficulty in tongue movements ORCID:0000-0001-5889-4463 Hypokinesia of the tongue Difficulty in lingual movements ORCID:0000-0001-5889-4463 Cleft soft palate Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency. HP:0000185 MSH:C562950 SNOMEDCT_US:253997002 UMLS:C0432098 human_phenotype Cleft muscular palate Cleft of soft palate Cleft velum ORCID:0000-0001-5208-3432 Cleft of soft palate Cleft velum ORCID:0000-0001-5889-4463 Cleft muscular palate ORCID:0000-0001-5889-4463 Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency. HPO:curators Broad alveolar ridges Broad alveolar margins HP:0000187 UMLS:C1857500 UMLS:C4280675 Widened alveolar ridges human_phenotype Wide alveolar margins Broad alveolar processes of jaw Wide alveolar processes of jaw Wide gum ridges Wide alveolar processes of jaw ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Wide gum ridges Wide alveolar margins ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Broad alveolar processes of jaw Short upper lip Decreased width of the upper lip. HP:0000188 HP:0200087 Short upper lip UMLS:C1848977 human_phenotype Decreased upper labial length Decreased vertical length of upper lip Shortening of upper lip Decreased height of upper lip Vertical deficiency of upper lip Decreased upper labial height Short upper lip Decreased width of the upper lip. HPO:probinson Decreased upper labial length ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Decreased height of upper lip ORCID:0000-0001-5889-4463 Vertical deficiency of upper lip ORCID:0000-0001-5889-4463 Shortening of upper lip ORCID:0000-0001-5889-4463 Decreased vertical length of upper lip ORCID:0000-0001-5889-4463 Decreased upper labial height Narrow palate HP:0000189 Narrow palate Palatal width is measured as the distance between the maxillary first permanent molar on the right and left sides, at the lingual cervical line, using a specific device. Palate width is typically assessed subjectively in routine clinical practice. Narrowing is often associated with a High palate, but this should be assessed and coded separately. Gingival overgrowth can give the impression of a narrow palate but should be distinguished and coded separately. The term gothic palate is used to indicate that the roof of the palate is not round but rather has an inverted V-shape, and therefore, only the upper part of the palate is narrow. UMLS:C1398312 Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective). human_phenotype Decreased palatal width Decreased transverse dimension of palate Narrow roof of mouth Decreased transverse dimension of palate ORCID:0000-0001-5889-4463 Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective). pmid:19125428 Narrow palate ORCID:0000-0001-5889-4463 Narrow roof of mouth Decreased palatal width ORCID:0000-0001-5889-4463 Abnormal oral frenulum morphology An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity. HP:0000190 UMLS:C4025881 human_phenotype Abnormality of lingual frenum Abnormality of frenum of tongue Abnormality of oral frenula A frenulum is a small frenum. There are several frena that are usually present in a normal oral cavity, most notably the maxillary labial frenum, the mandibular labial frenum, and the lingual frenum. Abnormality of oral frenum An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity. HPO:probinson PMID:23633765 Abnormality of lingual frenum https://orcid.org/0000-0001-5889-4463 https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Abnormality of frenum of tongue Abnormality of oral frenum ORCID:0000-0001-5889-4463 Accessory oral frenulum Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip. Extra oral frenulum HP:0000191 Supernumerary oral frenulum This finding is assessed by gently retracting the oral mucosa from the alveolar ridge. Typically there is a single maxillary and a single mandibular frenulum located in the midline between the two central incisors. Abnormalities of the alveolar ridges may accompany accessory frenula, but these should be assessed separately. UMLS:C4021814 human_phenotype Multiple oral frenula Accessory oral frenum Supernumerary oral frenum Extra oral frenum ORCID:0000-0001-5889-4463 Supernumerary oral frenum Extra oral frenum ORCID:0000-0001-5889-4463 Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip. pmid:19125428 ORCID:0000-0001-5889-4463 Accessory oral frenum Bifid uvula Cleft uvula HP:0000173 HP:0000193 SNOMEDCT_US:18910001 UMLS:C0266122 Uvula bifida Uvula separated into two parts most easily seen at the tip. human_phenotype Split uvula Bifid palatine uvula Forked uvula ORCID:0000-0001-5889-4463 Bifid palatine uvula Uvula separated into two parts most easily seen at the tip. pmid:19125428 ORCID:0000-0001-5889-4463 Split uvula ORCID:0000-0001-5889-4463 Forked uvula Open mouth HP:0000194 Open mouth Open mouth appearance SNOMEDCT_US:262016004 UMLS:C0240379 human_phenotype Slack jawed appearance A facial appearance characterized by a permanently or nearly permanently opened mouth. Gaped mouthed appearance Gaped jawed appearance ORCID:0000-0001-5889-4463 Gaped mouthed appearance Slack jawed appearance ORCID:0000-0001-5889-4463 Gaped jawed appearance ORCID:0000-0001-5889-4463 Open mouth HPO:probinson A facial appearance characterized by a permanently or nearly permanently opened mouth. HPO:skoehler Open mouth appearance Lower lip pit A lip pit may be connected by a fistula to mucous minor salivary glands in the lower lip. In addition, a lip pit may on occasion be seen with a surrounding tissue elevation (mound). Pits located at the labial commisure (cheilon) are distinct from lip pits (see Commissural pit). Depression located on the vermilion of the lower lip, usually paramedian. HP:0000196 UMLS:C1861544 human_phenotype Depression located on the vermilion of the lower lip, usually paramedian. HPO:sdoelken pmid:19125428 Abnormal parotid gland morphology Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear. HP:0000197 UMLS:C4025880 human_phenotype Abnormality of parotid gland Anomaly of the parotid gland ORCID:0000-0001-5889-4463 Anomaly of the parotid gland Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear. HPO:curators Absence of Stensen duct Absent stensen duct HP:0000198 UMLS:C1858569 UMLS:C4280674 human_phenotype Missing parotid duct Agenesis of stensen duct Failure of development of parotid duct Failure of development of stensen duct Missing stensen duct Absence of parotid duct Agenesis of parotid duct ORCID:0000-0001-5889-4463 Missing stensen duct Failure of development of stensen duct ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Absence of parotid duct ORCID:0000-0001-5889-4463 Agenesis of parotid duct Agenesis of stensen duct ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Missing parotid duct Failure of development of parotid duct ORCID:0000-0001-5889-4463 Tongue nodules HP:0000199 UMLS:C0241438 human_phenotype Lingual nodules ORCID:0000-0001-5889-4463 Lingual nodules Short lingual frenulum HP:0000200 SNOMEDCT_US:249388005 Short tongue frenulum The presence of an abnormally short lingual frenulum. UMLS:C0426501 UMLS:C4280673 human_phenotype Deficiency of lingual frenulum Short tongue frenum Tight lingual frenulum Hypoplasia of lingual frenum Hypoplasia of tongue frenulum Short lingual frenum Hypoplasia of lingual frenulum Hypoplasia of tongue frenum ORCID:0000-0001-5889-4463 Hypoplasia of lingual frenulum ORCID:0000-0001-5889-4463 Hypoplasia of lingual frenum HPO:probinson The presence of an abnormally short lingual frenulum. ORCID:0000-0001-5889-4463 Deficiency of lingual frenulum Tight lingual frenulum ORCID:0000-0001-5889-4463 Hypoplasia of tongue frenulum ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Short lingual frenum ORCID:0000-0001-5889-4463 Short tongue frenum Hypoplasia of tongue frenum ORCID:0000-0001-5889-4463 Pierre-Robin sequence HP:0000201 MSH:D010855 Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate. Pierre Robin sequence Robin sequence SNOMEDCT_US:4602007 UMLS:C0031900 human_phenotype Pierre-robin deformity Pierre-robin anomaly Pierre-robin malformation Pierre-robin anomaly ORCID:0000-0001-5889-4463 Pierre-robin deformity ORCID:0000-0001-5889-4463 HPO:probinson Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate. ORCID:0000-0001-5889-4463 Pierre-robin malformation Oral cleft Cleft lip, cleft palate Cleft lip/palate HP:0000202 Oral clefting SNOMEDCT_US:253983005 SNOMEDCT_US:66948001 The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. UMLS:C0158646 UMLS:C4021813 human_phenotype Cleft of the mouth HPO:probinson The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. PMID:21331089 ORCID:0000-0001-5889-4463 Cleft of the mouth Cleft upper lip A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. Cleft of upper lip Cleft upper lip HP:0000204 MSH:D002971 SNOMEDCT_US:80281008 UMLS:C0008924 human_phenotype Harelip Cheiloschisis of upper lip Fyler:4875 A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. HPO:probinson Cleft of upper lip ORCID:0000-0001-5889-4463 Harelip Cleft upper lip ORCID:0000-0001-5889-4463 Cheiloschisis of upper lip Pursed lips An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance. HP:0000205 Pursed lips UMLS:C1832130 human_phenotype Tightly closed lips Tightly closed lips ORCID:0000-0001-5889-4463 Pursed lips An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance. HPO:probinson Glossitis HP:0000206 Inflammation of the tongue. MSH:D005928 SNOMEDCT_US:45534005 UMLS:C0017675 human_phenotype Lingual inflammation Inflammation of the tongue Smooth swollen tongue HPO:sdoelken Inflammation of the tongue. Inflammation of the tongue ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Lingual inflammation Smooth swollen tongue ORCID:0000-0001-5889-4463 Triangular mouth HP:0000207 The presence of a triangular form of the mouth. Triangular mouth Triangular shaped mouth UMLS:C1849341 human_phenotype Triangular shaped oral aperture HPO:probinson The presence of a triangular form of the mouth. Triangular shaped mouth Triangular mouth ORCID:0000-0001-5889-4463 Triangular shaped oral aperture Trismus HP:0000211 Limitation in the ability to open the mouth. MSH:D014313 SNOMEDCT_US:87866006 UMLS:C0041105 UMLS:C1848474 UMLS:C4228933 UMLS:C4280672 human_phenotype Limited jaw movement Limited mouth opening Decrease in mandibular movement Decrease in mandibular mobility Limited mandibular mobility Decrease in jaw movement Decrease in mandibular opening Decrease in jaw mobility Limited jaw mobility Limited mandibular opening Limited jaw opening Pain of muscles of mastication Decrease in jaw opening Limited jaw mobility ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Decrease in mandibular mobility ORCID:0000-0001-5889-4463 Limited jaw movement Decrease in mandibular opening ORCID:0000-0001-5889-4463 Limited mouth opening Limited mandibular mobility ORCID:0000-0001-5889-4463 Decrease in jaw mobility ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Limited mandibular opening HPO:curators Limitation in the ability to open the mouth. Pain of muscles of mastication ORCID:0000-0001-5889-4463 Decrease in jaw movement ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Limited jaw opening Decrease in jaw opening ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Decrease in mandibular movement Gingival overgrowth Gingival hyperplasia Gingival hypertrophy Gum hypertrophy HP:0000195 HP:0000212 Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown. MSH:D005885 MSH:D005886 MSH:D019214 SNOMEDCT_US:441787004 SNOMEDCT_US:441798003 SNOMEDCT_US:54711002 This finding is to be distinguished from overgrowth of the alveolar ridge. UMLS:C0017566 UMLS:C0017567 UMLS:C0376480 human_phenotype Gum enlargement Oral soft tissue hyperplasia Gingival enlargement Gingival enlargement ORCID:0000-0001-5889-4463 Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown. pmid:19125428 ORCID:0000-0001-5889-4463 Gum enlargement Lip telangiectasia HP:0000214 Lip telangiectases Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips. Telangiectasia of the lips UMLS:C1857697 UMLS:C4280670 UMLS:C4280671 human_phenotype Labial angioectasias Spider veins of the lip Labial telangiectasia Angioectasias of the lip ORCID:0000-0001-5889-4463 Angioectasias of the lip ORCID:0000-0001-5889-4463 Labial telangiectasia HPO:probinson Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips. ORCID:0000-0001-5889-4463 Labial angioectasias ORCID:0000-0001-5889-4463 Spider veins of the lip HPO:skoehler Telangiectasia of the lips Thick upper lip vermilion HP:0000215 HP:0000231 Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective). Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or utilize the Likert scale of Astley and Clarren [2000] (Fig. 17). The vermilion of the upper lip varies considerably among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thickness of the upper lip vermilion is sensitive to the facial expression. On profile view, a thick vermilion is more convex than usual. Prominent upper lip Thick upper lip Thick vermilion border of upper lip UMLS:C1846423 human_phenotype Full upper lip vermilion Increased height of upper lip vermilion Thick red part of the upper lip Prominent upper lip vermilion Increased volume of upper lip Plump upper lip Full upper lip Increased volume of upper lip vermilion Prominent upper lip Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective). pmid:19125428 ORCID:0000-0001-5889-4463 Thick red part of the upper lip Increased volume of upper lip ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Full upper lip ORCID:0000-0001-5889-4463 Increased height of upper lip vermilion Prominent upper lip vermilion ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Plump upper lip ORCID:0000-0001-5889-4463 Full upper lip vermilion HPO:sdoelken Thick upper lip ORCID:0000-0001-5889-4463 Increased volume of upper lip vermilion Broad secondary alveolar ridge HP:0000216 Secondary alveolar ridges UMLS:C1839276 human_phenotype Xerostomia Dry mouth Dryness of the mouth due to salivary gland dysfunction. HP:0000217 HP:0002709 HP:0100756 MSH:D014987 Reduced salivation SNOMEDCT_US:300268000 SNOMEDCT_US:56893005 SNOMEDCT_US:87715008 UMLS:C0043352 human_phenotype Dry mouth syndrome Decreased salivary flow Decreased salivary flow ORCID:0000-0001-5889-4463 Reduced salivation Dry mouth Dryness of the mouth due to salivary gland dysfunction. HPO:probinson Dry mouth syndrome High palate HP:0000156 HP:0000218 HP:0009080 HP:0009082 HP:0009097 Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). High palate High, arched palate High-arched palate SNOMEDCT_US:27272007 The measuring device for this assessment is described in (Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers). A high palate is often associated with a narrow palate. However, a narrow palate can easily give a false appearance of a high palate. Height and width of the palate should be assessed and coded separately. We do not recommend the subjective determination because this term can be overused and applied inaccurately. UMLS:C0240635 human_phenotype Increased palatal height Elevated palate Increased palatal height ORCID:0000-0001-5889-4463 High palate ORCID:0000-0001-5889-4463 Elevated palate Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). pmid:19125428 Thin upper lip vermilion HP:0000219 HP:0200062 HP:0200086 Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or use the Likert scale for Caucasians and African Americans [Astley and Clarren, 2000]. The height of the vermilion of the upper lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thinness of the upper lip vermilion is sensitive to facial expression. On profile view, a thin vermilion is less convex than usual. A thin upper lip vermilion may be associated with a smooth philtrum and an absence of the Cupid's bow, but these should be assessed separately. Thin upper lip Thin upper lips Thin vermilion border of upper lip UMLS:C1865017 human_phenotype Decreased volume of upper lip vermilion Decreased volume of upper lip Thin red part of the upper lip Decreased height of upper lip vermilion HPO:skoehler Thin upper lip Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). pmid:19125428 Decreased height of upper lip vermilion ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Decreased volume of upper lip ORCID:0000-0001-5889-4463 Decreased volume of upper lip vermilion HPO:skoehler Thin upper lips ORCID:0000-0001-5889-4463 Thin red part of the upper lip Velopharyngeal insufficiency HP:0000220 Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech. MSH:D014681 SNOMEDCT_US:229727006 SNOMEDCT_US:232416001 SNOMEDCT_US:278714002 UMLS:C0042454 UMLS:C4280669 Velopharyngeal incompetence human_phenotype Velopharyngeal dysfunction Velopharyngeal dysfunction ORCID:0000-0001-5889-4463 Velopharyngeal incompetence DDD:jhurst Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech. Furrowed tongue Accentuation of the grooves on the dorsal surface of the tongue. HP:0000221 MSH:D014063 Prominent tongue grooves SNOMEDCT_US:52368004 Scrotal tongue UMLS:C0040412 Usually there is a midline groove of the tongue with smaller radiating grooves. The deep furrows may extend to the lateral borders. They may follow a regular geometric pattern or be irregular. A furrowed tongue occurs in 10-25% of individuals but is rare in children. human_phenotype Fissured tongue Lingue plicata Grooved tongue Plicated tongue Lingual furrow Accentuation of the grooves on the dorsal surface of the tongue. pmid:19125428 Lingual furrow ORCID:0000-0001-5889-4463 Plicated tongue HPO:skoehler Lingue plicata HPO:skoehler ORCID:0000-0001-5889-4463 Grooved tongue Fissured tongue HPO:skoehler Gingival hyperkeratosis HP:0000222 HP:0007539 Hyperkeratosis of the gingiva. Hyperkeratosis, gingival The condition results in the teeth being partially or totally engulfed by keratinized gingiva, causing aesthetic and functional problems. UMLS:C1857013 human_phenotype HPO:ibailleulforestier Hyperkeratosis of the gingiva. Abnormality of taste sensation Abnormality of taste sensation HP:0000223 UMLS:C4025879 human_phenotype Abnormality of taste sensation Decreased taste sensation Decreased taste Decreased taste sensation HP:0000224 MSH:D000370 SNOMEDCT_US:697990000 UMLS:C0151934 human_phenotype Lost taste Decreased taste sensation Lost taste Decreased taste Gingival bleeding HP:0000167 HP:0000225 Hemorrhage affecting the gingiva. MSH:D005884 SNOMEDCT_US:86276007 UMLS:C0017565 human_phenotype Gingival hemorrhage Gingivorrhagia Bleeding gums HPO:ibailleulforestier Hemorrhage affecting the gingiva. ORCID:0000-0001-5889-4463 Bleeding gums Gingival hemorrhage ORCID:0000-0001-5889-4463 Tongue telangiectasia HP:0000227 Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue. UMLS:C4025878 UMLS:C4280668 human_phenotype Lingual telangiectasia Spider veins of the tongue Angioectasias of the tongue Lingual angioectasias HPO:probinson Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue. Lingual angioectasias ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Angioectasias of the tongue ORCID:0000-0001-5889-4463 Lingual telangiectasia ORCID:0000-0001-5889-4463 Spider veins of the tongue Oral cavity telangiectasia HP:0000228 Presence of telangiectases in the oral cavity. UMLS:C4025877 UMLS:C4280667 human_phenotype Spider veins of the mouth Angioectasias of the oral cavity Spider veins of the oral cavity Angioectasias of the mouth Oral cavity teleangiectasia ORCID:0000-0001-5889-4463 Angioectasias of the oral cavity HPO:probinson Presence of telangiectases in the oral cavity. ORCID:0000-0001-5889-4463 Spider veins of the mouth Angioectasias of the mouth ORCID:0000-0001-5889-4463 Spider veins of the oral cavity ORCID:0000-0001-5889-4463 Gingivitis HP:0000230 Inflammation of the gingiva. MSH:D005891 SNOMEDCT_US:66383009 UMLS:C0017574 human_phenotype Inflamed gums Gingival inflammation Red and swollen gums Gingival inflammation ORCID:0000-0001-5889-4463 HPO:probinson Inflammation of the gingiva. ORCID:0000-0001-5889-4463 Inflamed gums ORCID:0000-0001-5889-4463 Red and swollen gums Everted lower lip vermilion An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view. Drooping lower lip Everted lower lip Everted prominent lower lip HP:0000184 HP:0000232 HP:0002264 HP:0002712 HP:0004665 HP:0009086 HP:0009093 In frontal view, with the face relaxed, the apparent height of the lower lip vermilion is excessive and the lower incisors may be visible. On profile view, the vermilion is more convex than usual. An everted lower lip may be viewed as pouting, but this designation is a functional term. Protruding lower lip UMLS:C1853246 UMLS:C1866234 human_phenotype Outward turned lower lip Eclabium of lower lip Drooping lower lip Protruding lower lip ORCID:0000-0001-5889-4463 Outward turned lower lip An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view. pmid:19125428 ORCID:0000-0001-5889-4463 Eclabium of lower lip Thin vermilion border HP:0000213 HP:0000233 Reduced width of the skin of vermilion border region of upper lip. SNOMEDCT_US:301348000 The vermilion is the red part of the lips, and the vermilion border is the rim of paler skin that demarcates the vermilion from the rest of the skin of the face. Thin lips Thin vermilion borders Thin vermillion UMLS:C0578038 human_phenotype Decreased volume of lip vermillion Decreased volume of lip HPO:skoehler Thin vermilion borders HPO:probinson Reduced width of the skin of vermilion border region of upper lip. ORCID:0000-0001-5889-4463 Decreased volume of lip Decreased volume of lip vermillion ORCID:0000-0001-5889-4463 Thin lips Abnormality of the head Abnormality of the head An abnormality of the head. HP:0000234 Head abnormality UMLS:C4021812 human_phenotype Abnormal head Head abnormality HPO:skoehler Abnormal head An abnormality of the head. HPO:probinson Abnormality of the head Abnormality of the fontanelles or cranial sutures Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments ). Fontanels are the fibrous, membrane-covered gaps created when more than two cranial bones are juxtaposed, as opposed to sutures, which are narrow seams of fibrous connective tissue that separate the flat bones of the skull. At birth, an infant has six fontanels (the anterior and posterior, two mastoid, and two sphenoid). The anterior fontanel is the largest and most important for clinical evaluation. The average size of the anterior fontanel is 2.1 cm, and the median time of closure is 13.8 months. HP:0000235 UMLS:C4025876 human_phenotype Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments ). HPO:probinson pmid:12825844 Abnormality of the anterior fontanelle An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures. HP:0000236 UMLS:C4025875 human_phenotype Abnormality of the forehead soft spot An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures. HPO:curators Abnormality of the forehead soft spot ORCID:0000-0001-5889-4463 Small anterior fontanelle Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms. HP:0000237 Small anterior fontanel UMLS:C1859455 human_phenotype Small forehead fontanel ORCID:0000-0001-5889-4463 Small forehead fontanel Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms. HPO:probinson Hydrocephalus HP:0000238 HP:0007189 HP:0008503 Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Hydrocephalus results from an imbalance between the rate of production of cerebrospinal fluid (CSF), mainly in the choroid plexus, and its reabsorption in the subarchnoid space over brain and spinal cord. Hydrocephaly MSH:D006849 Nonsyndromal hydrocephalus SNOMEDCT_US:230745008 UMLS:C0020255 human_phenotype Too much cerebrospinal fluid in the brain HPO:probinson Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. pmid:18211712 pmid:19410151 Too much cerebrospinal fluid in the brain orcid.org/0000-0002-6548-5200 Large fontanelles Enlarged fontanelles HP:0000239 HP:0004473 In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms. Large fontanel Large fontanelle Large fontanels Large, late-closing fontanelle SNOMEDCT_US:276709006 There are six membrane-covered openings between the cranial sutures in the incompletely ossified skull of the fetus or newborn infant that normally close sometime after birth (anterior fontanel, cranial fontanel, mastoid fontanel, posterior fontanel, sphenoidal fontanel). UMLS:C0456132 UMLS:C4072820 UMLS:C4072821 UMLS:C4072822 Wide fontanelles human_phenotype Wide bregma sutures Large bregma sutures Persistent wide fontanel Wide bregma sutures ORCID:0000-0001-5889-4463 Large, late-closing fontanelle ORCID:0000-0001-5889-4463 Wide fontanelles ORCID:0000-0001-5889-4463 HPO:probinson In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms. Large bregma sutures ORCID:0000-0001-5889-4463 Abnormality of skull size Abnormality of skull size Any abnormality of the size of the skull. HP:0000240 UMLS:C4025874 human_phenotype Abnormality of head size Abnormality of cranium size Any abnormality of the size of the skull. HPO:curators Abnormality of skull size Abnormality of head size ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Abnormality of cranium size Parietal bossing Biparietal bossing Bossing of parietal bone HP:0000242 HP:0004641 Parietal bossing is a marked prominence in the parietal region. UMLS:C1857126 human_phenotype HPO:probinson Parietal bossing is a marked prominence in the parietal region. Trigonocephaly HP:0000243 MSH:D003398 SNOMEDCT_US:28740008 This shape should be assessed from above, with the examiner looking down on the head of the patient. Trigonocephaly can be caused by premature fusion of the metopic suture. UMLS:C0265535 UMLS:C4280665 UMLS:C4280666 Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput. human_phenotype Triangular head shape Wedge shaped cranium Wedge shaped skull Wedge shaped head Triangular skull shape Triangular cranium shape Triangular skull shape ORCID:0000-0001-5889-4463 Wedge shaped skull ORCID:0000-0001-5889-4463 Wedge shaped head ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Triangular cranium shape Wedge shaped cranium ORCID:0000-0001-5889-4463 Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput. pmid:19125436 ORCID:0000-0001-5889-4463 Triangular head shape Brachyturricephaly HP:0000244 Turribrachycephaly UMLS:C1857484 human_phenotype Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region. Brachy-turricephaly High, prominent forehead https://orcid.org/0000-0002-9353-5498 High, prominent forehead PMID:8460563 Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region. Brachy-turricephaly PMID:8460563 Abnormality of the paranasal sinuses Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses. HP:0000245 UMLS:C4025873 human_phenotype Abnormality of the sinuses Abnormality of the sinuses of the head ORCID:0000-0001-5889-4463 Abnormality of the sinuses of the head Abnormality of the sinuses Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses. HPO:curators Sinusitis HP:0000246 Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction. MSH:D010254 MSH:D012852 SNOMEDCT_US:36971009 SNOMEDCT_US:7393007 UMLS:C0030469 UMLS:C0037199 human_phenotype Sinus infection Sinus disease Sinus inflammation ORCID:0000-0001-5889-4463 Sinus disease HPO:probinson Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction. Sinus infection Sinus inflammation ORCID:0000-0001-5889-4463 Brachycephaly An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms also have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Brachycephaly is distinct from Flat occiput, but both can be present in the same individual and should be coded separately. HP:0000248 HP:0002258 HP:0004479 HP:0008512 MSH:D003398 SNOMEDCT_US:13649004 UMLS:C0221356 UMLS:C4072823 UMLS:C4072824 human_phenotype Broad head shape Short and broad skull Broad skull shape Wide head shape Wide cranium shape Broad cranium shape Wide skull shape An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. HPO:probinson pmid:19125436 Broad skull shape ORCID:0000-0001-5889-4463 Broad cranium shape ORCID:0000-0001-5889-4463 Wide cranium shape ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Wide head shape ORCID:0000-0001-5889-4463 Wide skull shape ORCID:0000-0001-5889-4463 Broad head shape Short and broad skull orcid.org/0000-0002-6548-5200 Dense calvaria An abnormal increase of density of the bones making up the calvaria. HP:0000250 UMLS:C1854834 human_phenotype Dense skull cap An abnormal increase of density of the bones making up the calvaria. HPO:curators Dense skull cap ORCID:0000-0001-5889-4463 Microcephaly HP:0000252 HP:0001366 HP:0005485 HP:0005489 HP:0005497 Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex. On prenatal ultrasound, microcephaly is diagnosed if the head circumference or the biparietal diameter is more than three standard deviations below the mean. Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium. Reduced head circumference SNOMEDCT_US:271611007 Small head circumference UMLS:C0424688 human_phenotype small calvarium small cranium Decreased size of cranium Decreased circumference of cranium Small skull Abnormally small head Fyler:4310 Small head Abnormally small skull Decreased size of skull Abnormally small cranium Decreased size of head small cranium ORCID:0000-0001-5889-4463 Abnormally small cranium ORCID:0000-0001-5889-4463 Reduced head circumference Decreased size of skull ORCID:0000-0001-5889-4463 Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium. pmid:19125436 pmid:9683597 Decreased size of head ORCID:0000-0001-5889-4463 small calvarium ORCID:0000-0001-5889-4463 Small head circumference ORCID:0000-0001-5889-4463 Small skull Abnormally small skull ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Decreased size of cranium Abnormally small head ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Small head ORCID:0000-0001-5889-4463 Decreased circumference of cranium Progressive microcephaly HP:0000253 Microcephaly, postnatal, progressive Microcephaly, progressive Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms. UMLS:C1850456 human_phenotype Progressively abnormally small skull Progressively abnormally small cranium HPO:skoehler Microcephaly, progressive ORCID:0000-0001-5889-4463 Progressively abnormally small cranium ORCID:0000-0001-5889-4463 Progressively abnormally small skull HPO:probinson Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms. Acute sinusitis An acute form of sinusitis. HP:0000255 SNOMEDCT_US:15805002 UMLS:C0149512 human_phenotype An acute form of sinusitis. HPO:probinson Macrocephaly HP:0000256 HP:0005491 HP:0005496 Large head Large head circumference Macrocephaly can be due to hydrocephalus (increased CFSF), megalencephaly (increased brain volume) or thickening of the skull. Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far above the normal standard the head circumference is if an accurate assessment of this can be made. Macrocephaly is an absolute term. The term relative macrocephaly can be used when the head size centile exceeds the centile for height, for example, head size at the 75th centile with height at the 5th centile for age and sex. Macrocrania Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. UMLS:C4083076 UMLS:C4255213 UMLS:C4280663 UMLS:C4280664 human_phenotype Increased size of cranium HP:0200135 Large skull Large calvaria Megacephaly Fyler:4335 Increased size of skull Big calvaria Big head Increased size of head Large cranium Big cranium Big skull Increased size of cranium ORCID:0000-0001-5889-4463 ORCID:0000-0001-5208-3432 Megacephaly ORCID:0000-0001-5889-4463 Big head ORCID:0000-0001-5889-4463 Big calvaria Large head Increased size of head ORCID:0000-0001-5889-4463 Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. pmid:19125436 ORCID:0000-0001-5889-4463 Big cranium Big skull ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Large calvaria Large head circumference ORCID:0000-0001-5889-4463 Large cranium ORCID:0000-0001-5889-4463 Increased size of skull Large skull ORCID:0000-0001-5889-4463 Wide anterior fontanel Enlargement of the anterior fontanelle with respect to age-dependent norms. HP:0000260 Large anterior fontanel Large anterior fontanelle Large anterior fontanels Large open anterior fontanel Large open anterior fontanelle UMLS:C1866134 Wide anterior fontanelle Wide open anterior fontanelle human_phenotype Wider-than-typical soft spot of skull HPO:skoehler Large anterior fontanels https://orcid.org/0000-0002-6548-5200 https://orcid.org/0000-0001-5208-3432 Wider-than-typical soft spot of skull Enlargement of the anterior fontanelle with respect to age-dependent norms. HPO:curators Turricephaly HP:0000262 HP:0001356 MSH:D003398 SNOMEDCT_US:48069004 Tall head relative to width and length. Turricephaly is derived from the Latin word turris, meaning tall, and refers to a round, tall (tower-like) skull. This feature may have previously been considered to overlap with or include a tall forehead. Turricephaly is present when the head appears tall (subjective) and head length and width are reduced compared to normal age-related standards (objective). Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. The term acrocephaly (or oxycephaly) is used when there is turricephaly and the top of the skull assumes a cone shape. UMLS:C0030044 human_phenotype Tower skull shape Tower cranium shape Tall shaped skull Tall shaped cranium Tall shaped head Tower skull shape ORCID:0000-0001-5889-4463 Tall shaped head ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Tall shaped cranium ORCID:0000-0001-5889-4463 Tall shaped skull Tall head relative to width and length. pmid:19125436 Tower cranium shape ORCID:0000-0001-5889-4463 Oxycephaly Acrocephaly HP:0000263 MSH:D003398 Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull. SNOMEDCT_US:48069004 UMLS:C0030044 human_phenotype HPO:curators Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull. Abnormality of the mastoid An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone. HP:0000264 UMLS:C4025872 human_phenotype Abnormality of mastoid process of temporal bone An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone. HPO:pnrobinson Mastoiditis HP:0000265 MSH:D008417 SNOMEDCT_US:52404001 UMLS:C0024904 human_phenotype Cranial asymmetry Asymmetry of the bones of the skull. HP:0000267 UMLS:C1860245 UMLS:C4280258 UMLS:C4280657 UMLS:C4280658 UMLS:C4280659 UMLS:C4280660 UMLS:C4280661 UMLS:C4280662 human_phenotype Abnormality of cranial vault shape Malformation of head shape Cranial vault asymmetry Malformation of cranial vault shape Asymmetry of cranium Uneven head shape Asymmetry of head Malformation of cranium shape Abnormality of head shape Abnormality of cranium shape ORCID:0000-0001-5889-4463 Asymmetry of head Abnormality of head shape ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Abnormality of cranial vault shape ORCID:0000-0001-5889-4463 Malformation of cranium shape Malformation of cranial vault shape ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Asymmetry of cranium ORCID:0000-0001-5889-4463 Abnormality of cranium shape Malformation of head shape ORCID:0000-0001-5889-4463 Asymmetry of the bones of the skull. HPO:curators Uneven head shape ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Cranial vault asymmetry Dolichocephaly An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Dolichocephaly is distinct from Prominent occiput, but both can be present in the same individual and should be coded separately. Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). HP:0000258 HP:0000268 HP:0005440 Large dolichocephalic skull SNOMEDCT_US:72239002 Turridolichocephaly UMLS:C0221358 UMLS:C4280653 UMLS:C4280654 UMLS:C4280655 UMLS:C4280656 human_phenotype Long, narrow head Narrow skull shape Narrow cranium shape Narrow head shape Tall and narrow skull An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. HPO:probinson pmid:19125436 ORCID:0000-0001-5889-4463 Narrow head shape Long, narrow head ORCID:0000-0002-6548-5200 Narrow cranium shape ORCID:0000-0001-5889-4463 Tall and narrow skull orcid.org/0000-0002-6548-5200 Narrow skull shape ORCID:0000-0001-5889-4463 Prominent occiput HP:0000269 HP:0004489 Increased convexity of the occiput (posterior part of the skull). Increased convexity of the occiput gives an appearance of prominence. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Dolichocephaly, but this should be coded separately. UMLS:C1853737 UMLS:C4280652 human_phenotype Protruding back of the head Prominent posterior cranium Protruding occiput Prominent back of the head Prominent posterior skull Prominent back of the skull Prominent posterior head Prominent posterior cranium ORCID:0000-0001-5889-4463 Prominent posterior skull ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Prominent back of the skull Increased convexity of the occiput (posterior part of the skull). pmid:19125436 ORCID:0000-0001-5889-4463 Protruding occiput Prominent back of the head ORCID:0000-0001-5889-4463 Prominent posterior head ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Protruding back of the head Delayed cranial suture closure Broad late closing cranial sutures Delayed closure of fontanel Delayed closure of fontanelles Delayed closure of the fontanelles Delayed cranial suture closure Delayed fontanel closure Delayed fontanelle closure HP:0000270 HP:0002704 HP:0003794 Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age. Late closing fontanelles Late closure of fontanelle Late-closing fontanelle Open sutures SNOMEDCT_US:82779003 UMLS:C0277828 human_phenotype Delayed closure of fontanels Delayed closure of fontanels HPO:skoehler HPO:probinson Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age. Delayed cranial suture closure Abnormality of the face Abnormality of the face An abnormality of the face. HP:0000271 SNOMEDCT_US:118930001 SNOMEDCT_US:32003007 SNOMEDCT_US:398206004 SNOMEDCT_US:398302004 UMLS:C0266617 UMLS:C1290857 UMLS:C4025871 human_phenotype Facial abnormality Anomaly of the face Abnormality of the countenance Facial anomaly Abnormality of the physiognomy Anomaly of face Abnormal face Disorder of the face Disorder of face Abnormality of the visage ORCID:0000-0001-5889-4463 Facial abnormality Disorder of the face ORCID:0000-0001-5889-4463 HPO:skoehler Abnormal face ORCID:0000-0001-5889-4463 Abnormality of the physiognomy ORCID:0000-0001-5889-4463 Anomaly of face Disorder of face ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Facial anomaly Abnormality of the face Abnormality of the countenance ORCID:0000-0001-5889-4463 Abnormality of the visage ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Anomaly of the face An abnormality of the face. HPO:probinson Malar flattening Depressed malar region HP:0000272 HP:0000312 HP:0000332 HP:0004642 HP:0004658 HP:0004671 HP:0005319 HP:0005443 HP:0005455 HP:0100846 Malar hypoplasia The malar process is the most medial and superior portion of the bony midface, articulating with the maxilla and temporal and sphenoid bones, contiguous with the lateral boundary of the nasal bridge. The term malar hypoplasia is no longer preferred because surface examination cannot distinguish hypoplasia from hypotrophy. UMLS:C1858085 UMLS:C4280651 Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. human_phenotype Zygomatic flattening Hypotrophic malar bone Underdevelopment of malar bone Decreased size of malar bone Flat cheekbone Hypotrophic malar bone ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Decreased size of malar bone The malar process is the most medial and superior portion of the bony midface, articulating with the maxilla and temporal and sphenoid bones, contiguous with the lateral boundary of the nasal bridge. The term malar hypoplasia is no longer preferred because surface examination cannot distinguish hypoplasia from hypotrophy. ORCID:0000-0001-5889-4463 Zygomatic flattening ORCID:0000-0001-5889-4463 Underdevelopment of malar bone ORCID:0000-0001-5889-4463 HPO:probinson Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. pmid:19125436 ORCID:0000-0001-5889-4463 Flat cheekbone ORCID:0000-0002-9353-5498 Facial grimacing Facial grimacing HP:0000273 SNOMEDCT_US:37126005 UMLS:C0234853 human_phenotype Facial grimacing Small face A face that is short (HP:0011219) and narrow (HP:0000275). HP:0000274 Small face Small facies This term represents a combination of two terms, short face and narrow face. UMLS:C1855538 human_phenotype Hypoplasia of face Facial hypoplasia Microface Short and narrow face Microfacies A face that is short (HP:0011219) and narrow (HP:0000275). HP:probinson ORCID:0000-0001-5889-4463 Hypoplasia of face Small facies ORCID:0000-0001-5889-4463 Short and narrow face ORCID:0000-0001-5889-4463 Microfacies ORCID:0000-0001-5889-4463 Small face Microface ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Facial hypoplasia Narrow face Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective). HP:0000275 HP:0000318 Narrow face Narrow facies Objective measurement of the upper facial width is made with spreading calipers. The tips of the calipers are passed over the zygomatic arches until the maximum width is determined. Objective measurement of the lower faces is made with spreading calipers, with the tips firmly pressed against the inferomedial surface of the angle of the mandible. Thin face UMLS:C1837463 UMLS:C1849121 human_phenotype Decreased transverse dimension of face Decreased width of face Transverse insufficiency of face Decreased breadth of face Transverse hypoplasia of face Horizontal hypoplasia of face Horizontal deficiency of face Transverse deficiency of face Thin facies Decreased horizontal dimension of face Horizontal insufficiency of face Horizontal deficiency of face ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Transverse deficiency of face Decreased transverse dimension of face ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Horizontal insufficiency of face ORCID:0000-0001-5889-4463 Decreased horizontal dimension of face Horizontal hypoplasia of face ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Decreased width of face ORCID:0000-0001-5889-4463 Transverse hypoplasia of face ORCID:0000-0001-5889-4463 Transverse insufficiency of face Decreased breadth of face ORCID:0000-0001-5889-4463 Thin face Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective). pmid:19125436 Narrow face ORCID:0000-0001-5889-4463 Thin facies Long face Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective). HP:0000276 HP:0000334 Long face Objective measurement of the face height is made with sliding calipers from the nasion, just above the depth of the nasal root, to the gnathion, the inferior border of the mandible, both in the midline. Note that long face is distinct from narrow face. UMLS:C1836047 human_phenotype Increased height of face Vertical overgrowth of face Vertical hyperplasia of face Long facies Increased length of face Vertical enlargement of face Vertical elongation of face Increased vertical dimension of face Vertical Facial Excess Elongation of face Vertical excess of face Vertical hyperplasia of face ORCID:0000-0001-5889-4463 Long face ORCID:0000-0001-5889-4463 Vertical enlargement of face ORCID:0000-0001-5889-4463 Vertical excess of face Vertical Facial Excess ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Increased vertical dimension of face ORCID:0000-0001-5889-4463 Vertical elongation of face ORCID:0000-0001-5889-4463 Vertical overgrowth of face Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective). pmid:19125436 Increased height of face ORCID:0000-0001-5889-4463 Long facies ORCID:0000-0001-5889-4463 Elongation of face ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Increased length of face Abnormality of the mandible Abnormality of the mandible Any abnormality of the mandible, the bone of the lower jaw. HP:0000209 HP:0000277 UMLS:C4025870 human_phenotype Anomaly of the mandible Malformation of the mandible Abnormality of the lower jaw bone Deformity of the mandible Deformity of the lower jaw bone Malformation of the lower jaw bone Abnormality of the mandible Anomaly of the mandible ORCID:0000-0001-5889-4463 Deformity of the mandible ORCID:0000-0001-5889-4463 Any abnormality of the mandible, the bone of the lower jaw. HPO:probinson Abnormality of the lower jaw bone ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Deformity of the lower jaw bone Malformation of the mandible ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Malformation of the lower jaw bone Retrognathia An abnormality in which the mandible is mislocalised posteriorly. HP:0000278 HP:0002053 HP:0002954 MSH:D063173 Receding chin Receding mandible UMLS:C3494422 human_phenotype Retrognathia of lower jaw Receding lower jaw Weak chin Weak jaw Retrogenia Retrognathia of lower jaw ORCID:0000-0001-5889-4463 ORCID:0000-0001-5889-4463 Retrogenia ORCID:0000-0001-5889-4463 Receding lower jaw An abnormality in which the mandible is mislocalised posteriorly. HPO:probinson Receding chin ORCID:0000-0001-5889-4463 Weak chin Weak jaw ORCID:0000-0001-5889-4463 Coarse facial features Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. Coarse face Coarse facial features Coarse facies HP:0000280 HP:0000281 HP:0004640 UMLS:C1845847 UMLS:C4072825 human_phenotype Thickened facial skin with coarse facial features Rounded and heavy facial features Coarse facial appearance ORCID:0000-0001-5889-4463 Coarse facial appearance ORCID:0000-0001-5889-4463 Thickened facial skin with coarse facial features Coarse facial features ORCID:0000-0001-5889-4463 Rounded and heavy facial features Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. pmid:19125436 Facial edema HP:0000282 SNOMEDCT_US:445088006 UMLS:C0542571 human_phenotype Facial puffiness Facial swelling Facial puffiness ORCID:0000-0001-5889-4463 Facial swelling ORCID:0000-0001-5889-4463 Broad face Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective). Broad face HP:0000283 Note that broad face is distinct from round face. UMLS:C1859680