Human Phenotype Ontology 
Grandparent Node:
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Phenotypic abnormality (HP:0000118)help
Parent Node:
expand
Abnormality of the integument (HP:0001574)help
..Starting node
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Abnormality of skin adnexa morphology (HP:0011138)help
Term ID: 11138
Name: Abnormality of skin adnexa morphology
Synonym: Abnormal skin appendage
Definition: An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.
Comments:
Reference: HP:0011138
Genes and Diseases:
 
       Child Nodes:
........expandAbnormality of the sweat gland (HP:0000971) help
................... HP:0007500 Decreased number of sweat glands
................... HP:0011135 Aplasia/Hypoplasia of the sweat glands
........expandAbnormality of the hair (HP:0001595) help
................... HP:0000499 Abnormality of the eyelashes
................... HP:0000534 Abnormal eyebrow morphology
................... HP:0002552 Trichodysplasia
................... HP:0003328 Abnormal hair laboratory examination
................... HP:0009887 Abnormality of hair pigmentation
................... HP:0009888 Abnormality of secondary sexual hair
................... HP:0010719 Abnormality of hair texture
................... HP:0010720 Abnormal hair pattern
................... HP:0011357 Abnormality of hair density
................... HP:0011362 Abnormal hair quantity
................... HP:0040170 Abnormality of hair growth
................... HP:0100037 Abnormality of the scalp hair
........expandAbnormality of the nail (HP:0001597) help
................... HP:0001231 Abnormality of the fingernails
................... HP:0001232 Nail bed telangiectasia
................... HP:0001805 Thick nail
................... HP:0001806 Onycholysis
................... HP:0001808 Fragile nails
................... HP:0001816 Thin nail
................... HP:0002164 Nail dysplasia
................... HP:0002165 Pterygium of nails
................... HP:0008386 Aplasia/Hypoplasia of the nails
................... HP:0008388 Abnormal toenail morphology
................... HP:0008390 Recurrent loss of toenails and fingernails
................... HP:0008396 Chronic monilial nail infection
................... HP:0008404 Nail dystrophy
................... HP:0009723 Abnormality of the subungual region
................... HP:0009758 Pyramidal skinfold extending from the base to the top of the nails
................... HP:0012710 Ingrown nail
................... HP:0030254 Nail bed hemorrhage
................... HP:0030805 Absent lunula
................... HP:0030807 Abnormal nail growth
................... HP:0030808 Ragged cuticle
................... HP:0030817 Beaked nails
................... HP:0030819 Ski jump nail
................... HP:0100643 Abnormality of nail color
................... HP:0100803 Abnormality of the periungual region
................... HP:0100826 Neoplasm of the nail
........expandSkin appendage neoplasm (HP:0012842) help
................... HP:0012843 Hair follicle neoplasm
................... HP:0030410 Sebaceous gland carcinoma
................... HP:0030434 Pilomatrixoma
................... HP:0031024 Cylindroma
................... HP:0031405 Poroma
................... HP:0031454 Apocrine hidrocystoma
................... HP:0031548 Follicular infundibulum tumor

 Sister Nodes: 
..expandAbnormality of platysma (HP:3000013) help
..expandAbnormality of skin adnexa physiology (HP:0025276) help
..expandAbnormality of the skin (HP:0000951) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011138HP:0011138Abnormality of skin adnexa morphology0 CL E G H
HP:0011138HP:0000971Abnormal sweat gland morphology1 CL E G H
HP:0011138HP:0012842Skin appendage neoplasm1 CL E G H
HP:0011138HP:0001595Abnormal hair morphology1 CL E G H
HP:0011138HP:0001597Abnormality of the nail1 CL E G H
HP:0011138HP:0032226Abnormal sebaceous gland morphology1 CL E G H
HP:0011138HP:0007500Decreased number of sweat glands2 CL E G H
HP:0011138HP:0008396Chronic monilial nail infection2 CL E G H
HP:0011138HP:0031454Apocrine hidrocystoma2 CL E G H
HP:0011138HP:0002164Nail dysplasia2 CL E G H
HP:0011138HP:0033327Nail psoriasis2 CL E G H
HP:0011138HP:0002552Trichodysplasia2 CL E G H
HP:0011138HP:0000499Abnormal eyelash morphology2 CL E G H
HP:0011138HP:0030434Pilomatrixoma2 CL E G H
HP:0011138HP:0040170Abnormality of hair growth2 CL E G H
HP:0011138HP:0009887Abnormality of hair pigmentation2 CL E G H
HP:0011138HP:0030807Abnormal nail growth2 CL E G H
HP:0011138HP:0030808Ragged cuticle2 CL E G H
HP:0011138HP:0008388Abnormal toenail morphology2 CL E G H
HP:0011138HP:0030254Nail bed hemorrhage2 CL E G H
HP:0011138HP:0012843Hair follicle neoplasm2 CL E G H
HP:0011138HP:0003328Abnormal hair laboratory examination2 CL E G H
HP:0011138HP:0001805Onychogryposis2 CL E G H
HP:0011138HP:0032227Sebaceous hyperplasia2 CL E G H
HP:0011138HP:0008386Aplasia/Hypoplasia of the nails2 CL E G H
HP:0011138HP:0011362Abnormal hair quantity2 CL E G H
HP:0011138HP:0010719Abnormality of hair texture2 CL E G H
HP:0011138HP:0001806Onycholysis2 CL E G H
HP:0011138HP:0032228Trichodiscoma2 CL E G H
HP:0011138HP:0009758Pyramidal skinfold extending from the base to the top of the nails2 CL E G H
HP:0011138HP:0030817Beaked nails2 CL E G H
HP:0011138HP:0001816Thin nail2 CL E G H
HP:0011138HP:0000534Abnormal eyebrow morphology2 CL E G H
HP:0011138HP:0001231Abnormal fingernail morphology2 CL E G H
HP:0011138HP:0012710Ingrown nail2 CL E G H
HP:0011138HP:0009723Abnormality of the subungual region2 CL E G H
HP:0011138HP:0031548Follicular infundibulum tumor2 CL E G H
HP:0011138HP:0100826Neoplasm of the nail2 CL E G H
HP:0011138HP:0410400Absent sebaceous glands2 CL E G H
HP:0011138HP:0030805Absent lunula2 CL E G H
HP:0011138HP:0030410Sebaceous gland carcinoma2 CL E G H
HP:0011138HP:0002165Pterygium of nails2 CL E G H
HP:0011138HP:0100803Abnormality of the periungual region2 CL E G H
HP:0011138HP:0030819Ski jump nail2 CL E G H
HP:0011138HP:0001808Fragile nails2 CL E G H
HP:0011138HP:0008404Nail dystrophy2 CL E G H
HP:0011138HP:0009888Abnormality of secondary sexual hair2 CL E G H
HP:0011138HP:0031024Cylindroma2 CL E G H
HP:0011138HP:0001232Nail bed telangiectasia2 CL E G H
HP:0011138HP:0100037Abnormality of the scalp hair2 CL E G H
HP:0011138HP:0033250Nailfold capillary tortuosity2 CL E G H
HP:0011138HP:0011135Aplasia/Hypoplasia of the sweat glands2 CL E G H
HP:0011138HP:0031405Poroma2 CL E G H
HP:0011138HP:0100643Abnormality of nail color2 CL E G H
HP:0011138HP:0010720Abnormal hair pattern2 CL E G H
HP:0011138HP:0007733Laterally curved eyebrow3 CL E G H
HP:0011138HP:0010624Aplastic/hypoplastic toenail3 CL E G H
HP:0011138HP:0030804Trachyonychia3 CL E G H
HP:0011138HP:0430006Ectopic cilia of eyelid3 CL E G H
HP:0011138HP:0033425Periungual erythema3 CL E G H
HP:0011138HP:0100840Aplasia/Hypoplasia of the eyebrow3 CL E G H
HP:0011138HP:0002227White eyelashes3 CL E G H
HP:0011138HP:0100798Fingernail dysplasia3 CL E G H
HP:0011138HP:0000664Synophrys3 CL E G H
HP:0011138HP:0011361Congenital abnormal hair pattern3 CL E G H
HP:0011138HP:0008496Multiple rows of eyelashes3 CL E G H
HP:0011138HP:0008392Subungual hyperkeratosis3 CL E G H
HP:0011138HP:0012844Trichilemmoma3 CL E G H
HP:0011138HP:0032495Abnormal terminal:vellus ratio3 CL E G H
HP:0011138HP:0008394Congenital onychodystrophy3 CL E G H
HP:0011138HP:0002216Premature graying of hair3 CL E G H
HP:0011138HP:0031282Malalignment of the great toenail3 CL E G H
HP:0011138HP:0012542Onychauxis3 CL E G H
HP:0011138HP:0010764Short eyelashes3 CL E G H
HP:0011138HP:0001798Anonychia3 CL E G H
HP:0011138HP:0032470Monilethrix3 CL E G H
HP:0011138HP:0002298Absent hair3 CL E G H
HP:0011138HP:0002299Brittle hair3 CL E G H
HP:0011138HP:0032344Upslanting toenail3 CL E G H
HP:0011138HP:0025088Onychomadesis3 CL E G H
HP:0011138HP:0007592Aplasia/Hypoplastia of the eccrine sweat glands3 CL E G H
HP:0011138HP:0010730Double eyebrow3 CL E G H
HP:0011138HP:0009886Trichorrhexis nodosa3 CL E G H
HP:0011138HP:0011313Narrow nail3 CL E G H
HP:0011138HP:0001596Alopecia3 CL E G H
HP:0011138HP:0011359Dry hair3 CL E G H
HP:0011138HP:0011367Yellow nails3 CL E G H
HP:0011138HP:0011228Horizontal eyebrow3 CL E G H
HP:0011138HP:0001809Split nail3 CL E G H
HP:0011138HP:0007665Curly eyelashes3 CL E G H
HP:0011138HP:0002224Woolly hair3 CL E G H
HP:0011138HP:0001818Paronychia3 CL E G H
HP:0011138HP:0040296Abnormal location of the eyebrow3 CL E G H
HP:0011138HP:0001128Trichiasis3 CL E G H
HP:0011138HP:0008070Sparse hair3 CL E G H
HP:0011138HP:0008391Dystrophic fingernails3 CL E G H
HP:0011138HP:0010747Medial flaring of the eyebrow3 CL E G H
HP:0011138HP:0030818Central nail canal3 CL E G H
HP:0011138HP:0011457Loss of eyelashes3 CL E G H
HP:0011138HP:0001007Hirsutism3 CL E G H
HP:0011138HP:0100133Abnormality of the pubic hair3 CL E G H
HP:0011138HP:0009724Subungual fibromas3 CL E G H
HP:0011138HP:0001598Concave nail3 CL E G H
HP:0011138HP:0002226White eyebrow3 CL E G H
HP:0011138HP:0001810Dystrophic toenail3 CL E G H
HP:0011138HP:0011231Prominent eyelashes3 CL E G H
HP:0011138HP:0025367Trichoepithelioma3 CL E G H
HP:0011138HP:0011229Broad eyebrow3 CL E G H
HP:0011138HP:0003329Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes3 CL E G H
HP:0011138HP:0100874Thick hair3 CL E G H
HP:0011138HP:0040039Onycholysis of fingernails3 CL E G H
HP:0011138HP:0001795Hyperconvex nail3 CL E G H
HP:0011138HP:0040040Toenail onycholysis3 CL E G H
HP:0011138HP:0031623Brow ptosis3 CL E G H
HP:0011138HP:0045055Tiger tail banding3 CL E G H
HP:0011138HP:0040169Loose anagen hair3 CL E G H
HP:0011138HP:0033976Volar fingernail3 CL E G H
HP:0011138HP:0001803Nail pits3 CL E G H
HP:0011138HP:0002212Curly hair3 CL E G H
HP:0011138HP:0100644Melanonychia3 CL E G H
HP:0011138HP:0002209Sparse scalp hair3 CL E G H
HP:0011138HP:0007387Hypoplastic sweat glands3 CL E G H
HP:0011138HP:0030056Uncombable hair3 CL E G H
HP:0011138HP:0008399Circumungual hyperkeratosis3 CL E G H
HP:0011138HP:0004523Long eyebrows3 CL E G H
HP:0011138HP:0041093Beau's lines3 CL E G H
HP:0011138HP:0500262Atrichia3 CL E G H
HP:0011138HP:0100134Abnormality of the axillary hair3 CL E G H
HP:0011138HP:0001821Broad nail3 CL E G H
HP:0011138HP:0009553Abnormality of the hairline3 CL E G H
HP:0011138HP:0000574Thick eyebrow3 CL E G H
HP:0011138HP:0002220Melanin pigment aggregation in hair shafts3 CL E G H
HP:0011138HP:0008393Congenital curved nail of fourth toe3 CL E G H
HP:0011138HP:0025470Telogen effluvium3 CL E G H
HP:0011138HP:0011312Fused nails3 CL E G H
HP:0011138HP:0002297Red hair3 CL E G H
HP:0011138HP:0100797Toenail dysplasia3 CL E G H
HP:0011138HP:0008401Onychogryposis of toenails3 CL E G H
HP:0011138HP:0011136Aplasia of the sweat glands3 CL E G H
HP:0011138HP:0003777Pili torti3 CL E G H
HP:0011138HP:0012742Thin fingernail3 CL E G H
HP:0011138HP:0040051Abnormality of upper eyelashes3 CL E G H
HP:0011138HP:0002208Coarse hair3 CL E G H
HP:0011138HP:0001820Leukonychia3 CL E G H
HP:0011138HP:0007397Axillary apocrine gland hypoplasia3 CL E G H
HP:0011138HP:0001792Small nail3 CL E G H
HP:0011138HP:0002553Highly arched eyebrow3 CL E G H
HP:0011138HP:0011360Acquired abnormal hair pattern3 CL E G H
HP:0011138HP:0008383Slow-growing nails3 CL E G H
HP:0011138HP:0001807Ridged nail3 CL E G H
HP:0011138HP:0002213Fine hair3 CL E G H
HP:0011138HP:0011230Laterally extended eyebrow3 CL E G H
HP:0011138HP:0000527Long eyelashes3 CL E G H
HP:0011138HP:0025469Anagen effluvium3 CL E G H
HP:0011138HP:0100804Ungual fibroma3 CL E G H
HP:0011138HP:0001804Hypoplastic fingernail3 CL E G H
HP:0011138HP:0010793Bifid nail3 CL E G H
HP:0011138HP:0008410Subungual hyperkeratotic fragments3 CL E G H
HP:0011138HP:0001814Deep-set nails3 CL E G H
HP:0011138HP:0040052Abnormality of lower eyelashes3 CL E G H
HP:0011138HP:0012746Thin toenail3 CL E G H
HP:0011138HP:0040036Onychogryposis of fingernail3 CL E G H
HP:0011138HP:0002293Alopecia of scalp3 CL E G H
HP:0011138HP:0200102Sparse or absent eyelashes3 CL E G H
HP:0011138HP:0000998Hypertrichosis3 CL E G H
HP:0011138HP:0002235Pili canaliculi3 CL E G H
HP:0011138HP:0011363Abnormality of hair growth rate3 CL E G H
HP:0011138HP:0008402Ridged fingernail3 CL E G H
HP:0011138HP:0008390Recurrent loss of toenails and fingernails3 CL E G H
HP:0011138HP:0100038Slow-growing scalp hair3 CL E G H
HP:0011138HP:0001799Short nail3 CL E G H
HP:0011138HP:0005599Hypopigmentation of hair3 CL E G H
HP:0011138HP:0030806Fast-growing nails3 CL E G H
HP:0011138HP:0030803Platonychia3 CL E G H
HP:0011138HP:0002209Sparse scalp hair4 CL E G H
HP:0011138HP:0011913Lumbar hypertrichosis4 CL E G H
HP:0011138HP:0002292Frontal balding4 CL E G H
HP:0011138HP:0002287Progressive alopecia4 CL E G H
HP:0011138HP:0040149Woolly scalp hair4 CL E G H
HP:0011138HP:0004528Generalized hypotrichosis4 CL E G H
HP:0011138HP:0001800Hypoplastic toenails4 CL E G H
HP:0011138HP:0002230Generalized hirsutism4 CL E G H
HP:0011138HP:0007464Sparse facial hair4 CL E G H
HP:0011138HP:0000599Abnormality of the frontal hairline4 CL E G H
HP:0011138HP:0007933Broad lateral eyebrow4 CL E G H
HP:0011138HP:0008400Onycholysis of distal fingernails4 CL E G H
HP:0011138HP:0001812Hyperconvex fingernails4 CL E G H
HP:0011138HP:0007776Sparse lower eyelashes4 CL E G H
HP:0011138HP:0004780Elbow hypertrichosis4 CL E G H
HP:0011138HP:0040054Short upper eyelashes4 CL E G H
HP:0011138HP:0002234Early balding4 CL E G H
HP:0011138HP:0011358Generalized hypopigmentation of hair4 CL E G H
HP:0011138HP:0002289Alopecia universalis4 CL E G H
HP:0011138HP:0031283Tufted hairs4 CL E G H
HP:0011138HP:0011365Patchy hypopigmentation of hair4 CL E G H
HP:0011138HP:0002231Sparse body hair4 CL E G H
HP:0011138HP:0008398Hypoplastic fifth fingernail4 CL E G H
HP:0011138HP:0009553Abnormality of the hairline4 CL E G H
HP:0011138HP:0004527Large clumps of pigment irregularly distributed along hair shaft4 CL E G H
HP:0011138HP:0009554Preauricular hair displacement4 CL E G H
HP:0011138HP:0040055Short lower eyelashes4 CL E G H
HP:0011138HP:0004552Scarring alopecia of scalp4 CL E G H
HP:0011138HP:0004540Congenital, generalized hypertrichosis4 CL E G H
HP:0011138HP:0040042Aplasia of the eccrine sweat glands4 CL E G H
HP:0011138HP:0007840Long upper eyelashes4 CL E G H
HP:0011138HP:0002555Absent pubic hair4 CL E G H
HP:0011138HP:0004554Generalized hypertrichosis4 CL E G H
HP:0011138HP:0004768Sparse anterior scalp hair4 CL E G H
HP:0011138HP:0000653Sparse eyelashes4 CL E G H
HP:0011138HP:0011914Thoracic hypertrichosis4 CL E G H
HP:0011138HP:0007740Long eyelashes in irregular rows4 CL E G H
HP:0011138HP:0045075Sparse eyebrow4 CL E G H
HP:0011138HP:0002215Sparse axillary hair4 CL E G H
HP:0011138HP:0001804Hypoplastic fingernail4 CL E G H
HP:0011138HP:0008009Three rows of eyelashes4 CL E G H
HP:0011138HP:0012845Single trichilemmoma4 CL E G H
HP:0011138HP:0045074Thin eyebrow4 CL E G H
HP:0011138HP:0032497Reduced terminal:vellus ratio4 CL E G H
HP:0011138HP:0040053Long lower eyelashes4 CL E G H
HP:0011138HP:0004524Temporal hypotrichosis4 CL E G H
HP:0011138HP:0002293Alopecia of scalp4 CL E G H
HP:0011138HP:0000561Absent eyelashes4 CL E G H
HP:0011138HP:0004535Anterior cervical hypertrichosis4 CL E G H
HP:0011138HP:0010731Extension of eyebrows towards upper eyelid4 CL E G H
HP:0011138HP:0002217Slow-growing hair4 CL E G H
HP:0011138HP:0030055Hyperconvex toenail4 CL E G H
HP:0011138HP:0002550Absent facial hair4 CL E G H
HP:0011138HP:0001022Albinism4 CL E G H
HP:0011138HP:0004532Sacral hypertrichosis4 CL E G H
HP:0011138HP:0002232Patchy alopecia4 CL E G H
HP:0011138HP:0001802Absent toenail4 CL E G H
HP:0011138HP:0030141Abnormality of the posterior hairline4 CL E G H
HP:0011138HP:0002223Absent eyebrow4 CL E G H
HP:0011138HP:0002296Progressive hypotrichosis4 CL E G H
HP:0011138HP:0010721Abnormal hair whorl4 CL E G H
HP:0011138HP:0009743Distichiasis4 CL E G H
HP:0011138HP:0009889Localized hirsutism4 CL E G H
HP:0011138HP:0012846Multiple trichilemmomata4 CL E G H
HP:0011138HP:0032496Elevated terminal:vellus ratio4 CL E G H
HP:0011138HP:0002225Sparse pubic hair4 CL E G H
HP:0011138HP:0012553Hypoplastic thumbnail4 CL E G H
HP:0011138HP:0007534Congenital posterior occipital alopecia4 CL E G H
HP:0011138HP:0004771Premature graying of body hair4 CL E G H
HP:0011138HP:0001817Absent fingernail4 CL E G H
HP:0011138HP:0034003Broad medial eyebrow4 CL E G H
HP:0011138HP:0008407Hyperconvex thumb nails4 CL E G H
HP:0011138HP:0002221Absent axillary hair4 CL E G H
HP:0011138HP:0004779Brittle scalp hair4 CL E G H
HP:0011138HP:0002219Facial hypertrichosis4 CL E G H
HP:0011138HP:0040043Hypoplasia of the eccrine sweat glands4 CL E G H
HP:0011138HP:0045018Partial duplication of eyebrows4 CL E G H
HP:0011138HP:0040050Sparse upper eyelashes4 CL E G H
HP:0011138HP:0007418Alopecia totalis4 CL E G H
HP:0011138HP:0040056Absent upper eyelashes5 CL E G H
HP:0011138HP:0002286Fair hair5 CL E G H
HP:0011138HP:0002290Poliosis5 CL E G H
HP:0011138HP:0005338Sparse lateral eyebrow5 CL E G H
HP:0011138HP:0008398Hypoplastic fifth fingernail5 CL E G H
HP:0011138HP:0002236Frontal upsweep of hair5 CL E G H
HP:0011138HP:0009554Preauricular hair displacement5 CL E G H
HP:0011138HP:0009747Lumbosacral hirsutism5 CL E G H
HP:0011138HP:0009890High anterior hairline5 CL E G H
HP:0011138HP:0004552Scarring alopecia of scalp5 CL E G H
HP:0011138HP:0007708Absent inner eyelashes5 CL E G H
HP:0011138HP:0012554Absent thumbnail5 CL E G H
HP:0011138HP:0000294Low anterior hairline5 CL E G H
HP:0011138HP:0004768Sparse anterior scalp hair5 CL E G H
HP:0011138HP:0012555Absent nail of hallux5 CL E G H
HP:0011138HP:0012891High posterior hairline5 CL E G H
HP:0011138HP:0000535Sparse and thin eyebrow5 CL E G H
HP:0011138HP:0010814Abnormal position of hair whorl5 CL E G H
HP:0011138HP:0009937Facial hirsutism5 CL E G H
HP:0011138HP:0000561Absent eyelashes5 CL E G H
HP:0011138HP:0033975Absent second fingernail5 CL E G H
HP:0011138HP:0040050Sparse upper eyelashes5 CL E G H
HP:0011138HP:0005597Congenital alopecia totalis5 CL E G H
HP:0011138HP:0004529Atrophic, patchy alopecia5 CL E G H
HP:0011138HP:0011364White hair5 CL E G H
HP:0011138HP:0200105Absent fifth toenail5 CL E G H
HP:0011138HP:0030141Abnormality of the posterior hairline5 CL E G H
HP:0011138HP:0010813Abnormal number of hair whorls5 CL E G H
HP:0011138HP:0034042Dorsal hirsutism5 CL E G H
HP:0011138HP:0012553Hypoplastic thumbnail5 CL E G H
HP:0011138HP:0005325Extension of hair growth on temples to lateral eyebrow5 CL E G H
HP:0011138HP:0200104Absent fifth fingernail5 CL E G H
HP:0011138HP:0100038Slow-growing scalp hair5 CL E G H
HP:0011138HP:0007646Absent lower eyelashes5 CL E G H
HP:0011138HP:0032313Frontotemporal hypertrichosis5 CL E G H
HP:0011138HP:0002218Silver-gray hair5 CL E G H
HP:0011138HP:0000664Synophrys5 CL E G H
HP:0011138HP:0002211White forelock5 CL E G H
HP:0011138HP:0011937Hypoplastic fifth toenail5 CL E G H
HP:0011138HP:0002162Low posterior hairline5 CL E G H
HP:0011138HP:0025325Sparse medial eyebrow5 CL E G H
HP:0011138HP:0000599Abnormality of the frontal hairline5 CL E G H
HP:0011138HP:0007776Sparse lower eyelashes5 CL E G H
HP:0011138HP:0004768Sparse anterior scalp hair6 CL E G H
HP:0011138HP:0012891High posterior hairline6 CL E G H
HP:0011138HP:0005325Extension of hair growth on temples to lateral eyebrow6 CL E G H
HP:0011138HP:0007646Absent lower eyelashes6 CL E G H
HP:0011138HP:0002162Low posterior hairline6 CL E G H
HP:0011138HP:0000349Widow's peak6 CL E G H
HP:0011138HP:0011335Frontal hirsutism6 CL E G H
HP:0011138HP:0040056Absent upper eyelashes6 CL E G H
HP:0011138HP:0009890High anterior hairline6 CL E G H
HP:0011138HP:0007708Absent inner eyelashes6 CL E G H
HP:0011138HP:0000294Low anterior hairline6 CL E G H
HP:0011138HP:0000349Widow's peak7 CL E G H


Genes (1035) :A2ML1 AAGAB ABCA1 ABCA12 ABCA5 ABCC9 ABHD5 ACAN ACD ACER3 ACSL4 ACTB ACTG1 ACTG2 ACVR1 ACVRL1 ADA ADAM17 ADAMTS2 ADAMTS3 ADAMTSL2 ADNP AEBP1 AFF4 AGPAT2 AHCY AHI1 AHSG AIP AIRE AKT1 ALDH18A1 ALDOA ALG3 ALMS1 ALOX12B ALOXE3 ALX1 ALX3 ALX4 AMMECR1 ANKRD11 ANOS1 ANTXR1 ANTXR2 AP3B1 APC APC2 APCDD1 APOE APTX AR ARHGAP31 ARHGEF2 ARID1A ARID1B ARID2 ARL13B ARL3 ARL6 ARMC5 ARMC9 ARSB ARX ASL ASPM ASXL1 ASXL2 ASXL3 ATL1 ATM ATP2A2 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATR ATRIP AUTS2 AXIN2 AXL B3GALT6 B3GAT3 B3GLCT B4GALT7 B9D1 BANF1 BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL11B BCOR BCR BCS1L BHLHA9 BLM BLOC1S3 BMP1 BMP15 BMP2 BMP4 BMPER BMPR1B BPTF BRAF BRCA1 BRF1 BSCL2 BTD BTK BTNL2 C12ORF57 C15ORF41 C8ORF37 CACNA1F CACNA1G CAMKMT CANT1 CARD14 CARD9 CASR CAST CAV1 CAVIN1 CBL CBS CC2D2A CCBE1 CCDC141 CCDC22 CCDC47 CCDC8 CCNK CD151 CD28 CD96 CDC42 CDC45 CDH1 CDH11 CDH23 CDH3 CDK10 CDK4 CDK5 CDKL5 CDKN2A CDKN2B CDKN2D CDON CDSN CENPE CENPJ CEP104 CEP120 CEP152 CEP290 CEP41 CERS3 CHD1 CHD7 CHMP1A CHN1 CHRNA7 CHRNG CHST3 CHSY1 CHUK CKAP2L CLCN7 CLDN1 CLEC7A CLIP2 CLP1 CNBP COG4 COG7 COL11A1 COL11A2 COL14A1 COL17A1 COL18A1 COL25A1 COL2A1 COL3A1 COL4A3BP COL5A1 COL7A1 COLEC10 COLEC11 COX1 COX10 COX15 COX2 COX3 COX7B CPLANE1 CPLX1 CPOX CPT2 CREBBP CRIPT CRKL CSNK2A1 CSPP1 CSTA CTBP1 CTC1 CTDP1 CTLA4 CTNNB1 CTNND1 CTNS CTSC CTSK CTU2 CUL4B CUL7 CWC27 CWF19L1 CYB5A CYP11B1 CYP17A1 CYP19A1 CYP4F22 DCAF17 DCLRE1C DDB2 DEAF1 DENND5A DHCR7 DHX30 DICER1 DKC1 DLL4 DLX3 DLX4 DLX5 DMPK DMRT3 DNAJC21 DOCK6 DOCK7 DOLK DPF2 DPH1 DPM1 DSC2 DSC3 DSG1 DSG4 DSP DST DSTYK DTNBP1 DUSP6 DUX4 DVL1 DVL3 DYNC2LI1 EBF3 EBP ECE1 ECEL1 ECHS1 ECM1 EDA EDA2R EDAR EDARADD EDN3 EDNRA EDNRB EED EFNB1 EGFR EHMT1 ELMO2 ELN EMC1 ENG EOGT EP300 EPG5 EPS8L3 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERMARD ESCO2 EVC EVC2 EXOSC2 EXT1 EZH2 FAM111B FAM20C FAR1 FAS FAT4 FBN1 FBXL4 FBXO11 FBXO31 FERMT1 FEZF1 FGD1 FGF17 FGF3 FGF5 FGF8 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FHL1 FIG4 FLCN FLI1 FLII FLNA FLNB FLRT3 FLT4 FMR1 FOS FOXC2 FOXE1 FOXG1 FOXL2 FOXN1 FOXRED1 FRAS1 FREM1 FREM2 FRG1 FRMD4A FSHB FSHR FTL FTO FUCA1 FZD2 FZD6 GABBR2 GABRD GAN GATA1 GATA4 GATAD2B GDF3 GDF5 GDF6 GJA1 GJB2 GJB3 GJB4 GJB6 GLB1 GLI1 GLI2 GLI3 GNA11 GNAS GNE GNPTAB GNRH1 GNRHR GNS GPC3 GPC4 GPR101 GPRASP2 GRHL2 GRIP1 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTPBP2 GUSB H6PD HBA1 HBA2 HCCS HDAC4 HDAC8 HECW2 HERC1 HERC2 HESX1 HFE HGD HGSNAT HLA-DRA HLA-DRB1 HLCS HMGA2 HNRNPK HNRNPU HOXA13 HOXC13 HPD HPGD HPS1 HPS4 HPS5 HPS6 HR HRAS HS6ST1 HSD3B2 HSPA9 HSPG2 HTRA1 HUWE1 HYLS1 HYMAI IARS2 IDS IDUA IFIH1 IFT122 IFT172 IFT27 IFT43 IFT52 IGF1 IGF1R IHH IKBKG IL11RA IL17F IL17RA IL17RC IL17RD IL1RAPL1 IL2RA IL2RG IL36RN IL7R INPP5E INPPL1 INSR INTU IPW IQSEC2 IRF6 IRX5 ITGA3 ITGA6 ITGB4 ITGB6 JUP KANK2 KANSL1 KAT6B KCNAB2 KCNE5 KCNH1 KCNJ8 KCNK9 KCTD1 KDF1 KDM1A KDM6A KDSR KEAP1 KIAA0556 KIAA0586 KIAA0753 KIF11 KIF1A KIF1BP KIF22 KIF7 KISS1 KISS1R KIT KITLG KLF13 KLHL24 KLHL7 KLLN KMT2A KMT2D KNL1 KRAS KREMEN1 KRT1 KRT10 KRT14 KRT16 KRT17 KRT25 KRT5 KRT6A KRT6B KRT71 KRT74 KRT81 KRT83 KRT85 KRT86 KRT9 LAMA3 LAMB3 LAMC2 LAMTOR2 LAS1L LBR LEMD3 LETM1 LHB LHCGR LHX4 LIG4 LIMK1 LIPH LIPN LIPT1 LMNA LMNB2 LMX1B LOR LPAR6 LRMDA LRP1 LRP2 LRP4 LRPPRC LSS LTBP3 LYST LZTFL1 LZTR1 MAB21L2 MAF MAFB MAGEL2 MAN1B1 MAN2B1 MAP2K1 MAP2K2 MAP3K1 MAP3K7 MAPK1 MAPRE2 MASP1 MBD5 MBTPS2 MC1R MCCC2 MCTP2 MECP2 MED12 MED25 MEF2C MEGF8 MEIS2 MEOX1 MGAT2 MGMT MGP MID1 MITF MKKS MKRN3 MKRN3-AS1 MKS1 MLH1 MLPH MLXIPL MMP1 MMP2 MOGS MPLKIP MRPS22 MSH2 MSTO1 MSX1 MTAP MTFMT MTOR MUTYH MVK MYO18B MYO5A NAA10 NAGLU NANS NBAS NBN ND1 ND4 ND5 ND6 NDN NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF5 NDUFAF6 NDUFB11 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NECTIN1 NECTIN4 NEK1 NEK9 NELFA NF1 NFIB NFIX NFKB1 NFKB2 NFKBIA NHP2 NIPAL4 NIPBL NKX6-2 NLRP1 NOG NOP10 NOTCH1 NOTCH2 NOTCH3 NPAP1 NPHP1 NPR2 NR0B1 NR3C1 NR5A1 NRAS NSD1 NSD2 NSDHL NSMF NSUN2 NTNG1 NTRK1 NUP107 NUS1 NXN OBSL1 OCA2 OCRL OFD1 ORC1 ORC6 OTUD6B OTX2 PACS1 PACS2 PADI3 PAH PAPSS2 PARN PAX3 PCNT PCSK1 PDE4D PDE6D PDGFRB PDHA1 PEPD PET100 PEX1 PEX19 PEX6 PEX7 PHF6 PHF8 PHGDH PHIP PHYH PIBF1 PIGA PIGL PIGN PIGS PIGV PIK3R1 PITX1 PKP1 PLAA PLAGL1 PLCD1 PLEC PLK4 PLOD3 PMPCA PNPLA1 PNPLA6 POC1A POLA1 POLR1C POLR1D POLR3A POLR3B POMC POMP POP1 POR PORCN POT1 POU1F1 PPARG PPM1B PPM1D PPP1CB PPP1R15B PPP2R1A PQBP1 PRDM16 PRDM5 PREPL PRKACA PRKAR1A PRKD1 PROK2 PROKR2 PROP1 PRRX1 PSAT1 PSMC3IP PSMD12 PTDSS1 PTEN PTPN11 PTPN22 PUF60 PUS1 PWAR1 PWRN1 PYCR1 RAB18 RAB27A RAB3GAP1 RAB3GAP2 RAB7A RAC1 RAD21 RAF1 RAG1 RAG2 RAI1 RAP1A RAP1B RASA2 RBBP8 RBM28 RBPJ RECQL4 RERE RET RETREG1 RFC2 RIN2 RIPK4 RIT1 RLIM RMRP RNF113A RNF125 RNU4ATAC ROR2 RPGRIP1L RPL21 RPS23 RPS28 RPS6KA3 RRAS RSPO1 RSPO4 RTEL1 RUNX2 RUSC2 SATB2 SCARF2 SCN9A SDCCAG8 SDHA SDR9C7 SEC23A SEC23B SEMA3E SETBP1 SETD2 SETD5 SF3B4 SGSH SH2B1 SHANK3 SHOC2 SHOX SHROOM4 SIN3A SKI SKIV2L SLC12A6 SLC17A5 SLC19A3 SLC24A5 SLC25A24 SLC29A3 SLC35A2 SLC35C1 SLC35D1 SLC39A4 SLC3A1 SLC45A1 SLC45A2 SLC6A9 SLC7A7 SLC9A6 SLCO2A1 SLITRK1 SLURP1 SMAD4 SMARCA2 SMARCA4 SMARCAD1 SMARCAL1 SMARCB1 SMARCD2 SMARCE1 SMC1A SMC3 SMCHD1 SMO SMOC1 SNAI2 SNORD115-1 SNORD116-1 SNRPE SNRPN SNX10 SNX14 SON SOS1 SOS2 SOST SOX10 SOX11 SOX18 SOX3 SOX9 SPECC1L SPIDR SPINK5 SPRED1 SPRY4 SRA1 SRCAP SRD5A2 SRD5A3 SRY ST14 STAG1 STAMBP STAT3 STIM1 STK11 STN1 STUB1 STXBP1 SUCLA2 SULT2B1 SUMF1 SUOX SURF1 SUZ12 SZT2 TAC3 TACO1 TACR3 TAF1 TAF6 TALDO1 TAT TBC1D20 TBC1D24 TBCD TBCK TBL1XR1 TBL2 TBX15 TBX2 TBX3 TBX4 TCF12 TCHH TCIRG1 TCOF1 TCTN1 TCTN2 TCTN3 TECPR2 TENT5A TERC TERF2IP TERT TFAP2A TFAP2B TGDS TGM1 TGM3 THOC6 TINF2 TMCO1 TMEM138 TMEM173 TMEM216 TMEM231 TMEM237 TMEM67 TMEM94 TNFRSF1B TNFSF11 TP53 TP63 TRAF3IP2 TRAF6 TRAIP TRAPPC9 TREX1 TRIM32 TRIO TRMT1 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNT1 TRNW TRPS1 TRPV3 TSC1 TSC2 TSR2 TTC37 TTC7A TTC8 TTI2 TUBB TUBGCP4 TUBGCP6 TWIST1 TWIST2 TYR TYRP1 UBA1 UBE2A UBE3A UBE3B UBR1 UMPS UQCC2 UROC1 UROD UROS USB1 USP8 USP9X VAC14 VAMP7 VARS VDR VEGFC VPS13B VPS33A VPS37A WAC WASHC5 WDPCP WDR11 WDR19 WDR26 WDR35 WDR73 WDR81 WHCR WNK1 WNT10A WNT10B WNT4 WNT5A WNT7A WRAP53 WRN WT1 WWOX XPA XPC XRCC4 XYLT1 XYLT2 YARS2 ZBTB20 ZC4H2 ZDHHC15 ZEB2 ZFPM2 ZIC1 ZIC2 ZMPSTE24 ZNF423 ZNF469 ZSWIM6

Diseases (1148) :79501 79394 313 171866 618 86818 744 242100 2028 208900 218 212050 2584 601553 1571 2556 190320 220600 50942 573 609638 133540 3237 1555 110100 248450 349 317 56 203300 1300 181270 79399 3000 2348 280365 308800 64754 2591 308050 950 158668 2092 309500 250460 303600 113750 2963 206920 607823 264600 2314 28378 610448 243800 277700 648 31150 205400 3322 616553 600376 614328 88618 963 3453 601110 2332 261250 247806 79665 821 2508 23 613708 278250 124480 904 139471 93384 1425 428 616295 609057 3162 1308 1997 3095 270300 667 1334 79402 79406 226650 286 79411 231568 89842 89841 89843 158673 79409 132000 604129 131750 131850 226600 131705 607936 612199 1775 132600 678 245010 763 85293 818 276399 305000 3352 273 617052 608799 148700 615821 607655 615425 269 180700 289 35173 129490 1810 248 3447 617561 304110 187300 601675 952 225500 193530 277590 615704 3437 969 2908 2396 3472 216340 135150 311300 153100 1226 601705 2052 2717 254704 614157 104100 2710 164200 494 477 148210 189 129500 95494 672 146510 373 616029 614931 2796 3071 218040 800 85328 182250 1515 218330 308300 614204 3144 769 246200 119500 614748 79403 226730 601214 610443 2036 617337 2526 93360 79503 2199 79400 79397 79396 125595 131760 601001 131900 161000 2309 167200 167210 131960 615726 615728 614929 158000 602032 79404 226700 79405 235 79474 90153 740 2614 79395 614305 601088 659 2273 308205 158320 2228 175900 647 225060 293978 615577 224230 613987 615225 611377 955 256800 1410 616353 742 3220 773 79351 2671 1275 2387 79401 226670 616487 2518 612394 614813 601952 617396 305600 2701 93947 90354 617364 90695 1387 212720 221016 268400 1401 214350 1824 268310 610644 615190 612313 600920 168569 37 87503 248300 3051 617475 1106 269500 163746 2044 1772 612783 79500 220500 3138 127550 242300 613990 268130 615934 69085 1896 604292 106260 603543 129400 77258 190350 614594 436252 1807 920 1145 300860 2315 30 176100 257980 224750 2879 613988 85194 90154 608612 603671 1827 601277 135400 2026 1517 965 239850 98907 275630 617762 243310 2995 614583 2604 337 135100 39041 225410 231050 616368 608594 220493 475 608629 2850 219090 240300 219150 64 203800 228390 613451 148050 2067 230740 55654 1168 100300 974 617523 1465 614607 135900 618161 110 253200 300004 207900 608716 97297 605039 617190 615485 100 101900 124200 357074 2834 219200 3473 616455 198 565 304150 309400 808 614564 615834 608615 75496 615349 271640 245600 130070 209900 617237 2712 300166 261330 123 256000 124000 262000 607539 210900 614856 300510 617877 608022 529962 115150 1340 613707 617883 616202 269700 79241 253260 47 797 218340 615631 618087 163693 2897 173200 612526 613327 613563 394 236200 2318 1454 235510 7 618268 2616 616737 119580 1299 211380 1897 1573 225280 617694 616342 614226 146520 529965 617682 138 614961 612001 263463 143095 605282 613630 272440 3255 607626 411493 615803 263501 613489 608779 2021 228520 166011 130050 2500 616351 79408 79410 158676 293843 248340 265050 255241 300887 2754 194190 79273 180849 617062 48431 219800 265800 618142 273750 250410 453521 90795 3464 241080 603554 910 819 615828 617281 617804 614219 615859 618027 610476 613102 607903 65282 158687 605676 3107 616894 617330 302960 613870 615065 530 181 305100 614940 614941 897 613265 616367 895 277580 1520 616069 96147 610253 194050 615297 613684 242840 444 616390 214150 216400 75857 3103 269000 268300 617763 502 259775 616154 102370 615471 618089 615979 173650 90024 190330 3366 613001 190440 313855 614592 123790 53271 300280 2308 305620 309350 503 150250 169095 466688 616819 64739 612938 230000 1606 643 256850 79277 314050 615074 228900 1010 2698 149200 230500 175700 269921 252940 312870 301018 616943 616395 253220 604931 98791 1001 3459 199 300882 617268 176270 465508 235200 252930 505 79242 253270 94063 238769 2118 203655 146550 163200 2612 90791 616854 600142 96191 436174 309900 93473 607014 607015 614099 270450 63446 607778 464 614188 300143 606367 213300 262190 34217 616099 85201 606170 135500 612292 616728 2322 147920 300867 970 201300 66629 609460 2884 617294 615107 319182 605130 604321 615278 609165 69087 170 616760 615896 613981 194300 245660 90023 309585 215140 280 604379 1662 363618 151660 176670 275210 248370 161200 278150 3152 220111 601216 214500 616564 615877 615547 614202 248500 615279 613762 617137 257920 228402 156200 85284 300918 210210 1596 778 305450 616449 228384 614976 600987 212066 85202 42665 103500 193510 79478 609227 259600 606056 234050 502423 189500 112250 616638 33445 79476 214450 276432 300855 252920 610442 614800 3253 613573 2751 602535 616576 612132 122470 527497 186500 616028 102500 130720 220497 602875 786 615962 613224 117550 611091 617082 1507 203200 534 2750 300804 311200 300209 224690 505237 617452 990 615009 618067 191480 79254 612847 616371 894 896 148820 193500 2637 210720 71528 280651 614613 601812 234580 614886 616617 215100 127 85287 300263 617991 300868 3474 280000 2059 280633 618143 239300 3163 521426 151600 257 131950 275400 301220 264090 71526 609734 95699 604367 617450 617506 616817 615830 1359 160980 2658 151050 65285 397 508488 614438 614222 79477 607624 600882 617751 614701 611554 182290 612079 616975 162300 217335 613075 1234 263650 615355 300978 175 250250 300953 616260 2636 210710 616651 113000 615885 617412 192 206800 1452 617773 251019 50814 607812 616858 616078 269150 616831 615761 245 252900 48652 606232 607721 240 300434 94065 613406 614602 2095 612289 300896 201100 617532 606574 617301 222700 85278 300243 613229 139210 601358 614609 384 181600 242900 614608 616938 300590 610759 603457 601707 615059 616354 500150 610733 616559 609136 611584 613266 615866 69735 137940 1519 145420 634 256500 136140 612379 602400 614261 2869 617341 412057 585 272300 615476 300966 617126 606003 615663 616900 181450 261279 617252 617952 1297 113620 169100 1388 617251 1394 213980 614424 618316 1501 1071 978 103285 616777 352530 613192 617061 618302 616084 190351 805 538 191100 613254 222470 615541 1231 209885 227260 606952 79433 203290 244450 615824 263700 300968 617802 93160 615907 193 216550 617303 614898 616708 613610 614091 251300 610185 50944 150400 617073 247768 158330 276820 902 3042 259050 235730 609637 229200 617865 966 2136 618000 528 203650 306542 613456 432 308700 608233 261584 3258 605389 269600 99429 300068 189427 79499 146110 261540 614008 618092 614077 243 363400 300600 618147 617063 96253 233 59303 602668 560 550 608836 617681 90796 90793 91 616589 616788 160900 251510 610768 616901 270750 614076 247100 224900 600501 3019 166250 261483 33001 153400 219000 52901 257850 602540 576 617988 617011 614073 614074 614075 701 255800 93476 508 2297 611816 617392 228300 79087 615179 604093 618275 615280 2505 626 79432 139474 618286 561 140908 612964 613803 256520 861 79083 616362 2598 600462 2510 600118 93383 798 154400 79435 1553 617635 1933 617193 238578 154500 2753 300946 617746 200110 79434 79431 203100 2707 277440 228930 615873 611881 163950 300963 2990 615789 101003 616875 915 794 101400 602849 2345 118100 252500 616580 2438 73272 617925 611174 172800 99812 167 214300 616549 601321 2789 261600 170100 1170 614225 606164 261222 218000 269920 611431 602342 93333 260660 618223 615314 320385 615031 613680 105830 276880 220210 617616 605822 314580 300577 616602 391474 136760 305400 2143 300000 266265 145410
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.