Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Phenotypic abnormality (HP:0000118)

Parent Node:
Abnormality of the integument (HP:0001574)

..Starting node
..Abnormality of skin adnexa morphology (HP:0011138)

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:

........

Abnormality of the sweat gland (HP:0000971)

................... HP:0007500 Decreased number of sweat glands
................... HP:0011135 Aplasia/Hypoplasia of the sweat glands

........

Abnormality of the hair (HP:0001595)

................... 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

........

Abnormality of the nail (HP:0001597)

................... 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

........

Skin appendage neoplasm (HP:0012842)

................... 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:

Abnormality of platysma (HP:3000013)

Abnormality of skin adnexa physiology (HP:0025276)

Abnormality of the skin (HP:0000951)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011138	HP:0011138	Abnormality of skin adnexa morphology	0	CL E G H
HP:0011138	HP:0000971	Abnormal sweat gland morphology	1	CL E G H
HP:0011138	HP:0012842	Skin appendage neoplasm	1	CL E G H
HP:0011138	HP:0001595	Abnormal hair morphology	1	CL E G H
HP:0011138	HP:0001597	Abnormality of the nail	1	CL E G H
HP:0011138	HP:0032226	Abnormal sebaceous gland morphology	1	CL E G H
HP:0011138	HP:0007500	Decreased number of sweat glands	2	CL E G H
HP:0011138	HP:0008396	Chronic monilial nail infection	2	CL E G H
HP:0011138	HP:0031454	Apocrine hidrocystoma	2	CL E G H
HP:0011138	HP:0002164	Nail dysplasia	2	CL E G H
HP:0011138	HP:0033327	Nail psoriasis	2	CL E G H
HP:0011138	HP:0002552	Trichodysplasia	2	CL E G H
HP:0011138	HP:0000499	Abnormal eyelash morphology	2	CL E G H
HP:0011138	HP:0030434	Pilomatrixoma	2	CL E G H
HP:0011138	HP:0040170	Abnormality of hair growth	2	CL E G H
HP:0011138	HP:0009887	Abnormality of hair pigmentation	2	CL E G H
HP:0011138	HP:0030807	Abnormal nail growth	2	CL E G H
HP:0011138	HP:0030808	Ragged cuticle	2	CL E G H
HP:0011138	HP:0008388	Abnormal toenail morphology	2	CL E G H
HP:0011138	HP:0030254	Nail bed hemorrhage	2	CL E G H
HP:0011138	HP:0012843	Hair follicle neoplasm	2	CL E G H
HP:0011138	HP:0003328	Abnormal hair laboratory examination	2	CL E G H
HP:0011138	HP:0001805	Onychogryposis	2	CL E G H
HP:0011138	HP:0032227	Sebaceous hyperplasia	2	CL E G H
HP:0011138	HP:0008386	Aplasia/Hypoplasia of the nails	2	CL E G H
HP:0011138	HP:0011362	Abnormal hair quantity	2	CL E G H
HP:0011138	HP:0010719	Abnormality of hair texture	2	CL E G H
HP:0011138	HP:0001806	Onycholysis	2	CL E G H
HP:0011138	HP:0032228	Trichodiscoma	2	CL E G H
HP:0011138	HP:0009758	Pyramidal skinfold extending from the base to the top of the nails	2	CL E G H
HP:0011138	HP:0030817	Beaked nails	2	CL E G H
HP:0011138	HP:0001816	Thin nail	2	CL E G H
HP:0011138	HP:0000534	Abnormal eyebrow morphology	2	CL E G H
HP:0011138	HP:0001231	Abnormal fingernail morphology	2	CL E G H
HP:0011138	HP:0012710	Ingrown nail	2	CL E G H
HP:0011138	HP:0009723	Abnormality of the subungual region	2	CL E G H
HP:0011138	HP:0031548	Follicular infundibulum tumor	2	CL E G H
HP:0011138	HP:0100826	Neoplasm of the nail	2	CL E G H
HP:0011138	HP:0410400	Absent sebaceous glands	2	CL E G H
HP:0011138	HP:0030805	Absent lunula	2	CL E G H
HP:0011138	HP:0030410	Sebaceous gland carcinoma	2	CL E G H
HP:0011138	HP:0002165	Pterygium of nails	2	CL E G H
HP:0011138	HP:0100803	Abnormality of the periungual region	2	CL E G H
HP:0011138	HP:0030819	Ski jump nail	2	CL E G H
HP:0011138	HP:0001808	Fragile nails	2	CL E G H
HP:0011138	HP:0008404	Nail dystrophy	2	CL E G H
HP:0011138	HP:0009888	Abnormality of secondary sexual hair	2	CL E G H
HP:0011138	HP:0031024	Cylindroma	2	CL E G H
HP:0011138	HP:0001232	Nail bed telangiectasia	2	CL E G H
HP:0011138	HP:0100037	Abnormality of the scalp hair	2	CL E G H
HP:0011138	HP:0033250	Nailfold capillary tortuosity	2	CL E G H
HP:0011138	HP:0011135	Aplasia/Hypoplasia of the sweat glands	2	CL E G H
HP:0011138	HP:0031405	Poroma	2	CL E G H
HP:0011138	HP:0100643	Abnormality of nail color	2	CL E G H
HP:0011138	HP:0010720	Abnormal hair pattern	2	CL E G H
HP:0011138	HP:0007733	Laterally curved eyebrow	3	CL E G H
HP:0011138	HP:0010624	Aplastic/hypoplastic toenail	3	CL E G H
HP:0011138	HP:0030804	Trachyonychia	3	CL E G H
HP:0011138	HP:0430006	Ectopic cilia of eyelid	3	CL E G H
HP:0011138	HP:0033425	Periungual erythema	3	CL E G H
HP:0011138	HP:0100840	Aplasia/Hypoplasia of the eyebrow	3	CL E G H
HP:0011138	HP:0002227	White eyelashes	3	CL E G H
HP:0011138	HP:0100798	Fingernail dysplasia	3	CL E G H
HP:0011138	HP:0000664	Synophrys	3	CL E G H
HP:0011138	HP:0011361	Congenital abnormal hair pattern	3	CL E G H
HP:0011138	HP:0008496	Multiple rows of eyelashes	3	CL E G H
HP:0011138	HP:0008392	Subungual hyperkeratosis	3	CL E G H
HP:0011138	HP:0012844	Trichilemmoma	3	CL E G H
HP:0011138	HP:0032495	Abnormal terminal:vellus ratio	3	CL E G H
HP:0011138	HP:0008394	Congenital onychodystrophy	3	CL E G H
HP:0011138	HP:0002216	Premature graying of hair	3	CL E G H
HP:0011138	HP:0031282	Malalignment of the great toenail	3	CL E G H
HP:0011138	HP:0012542	Onychauxis	3	CL E G H
HP:0011138	HP:0010764	Short eyelashes	3	CL E G H
HP:0011138	HP:0001798	Anonychia	3	CL E G H
HP:0011138	HP:0032470	Monilethrix	3	CL E G H
HP:0011138	HP:0002298	Absent hair	3	CL E G H
HP:0011138	HP:0002299	Brittle hair	3	CL E G H
HP:0011138	HP:0032344	Upslanting toenail	3	CL E G H
HP:0011138	HP:0025088	Onychomadesis	3	CL E G H
HP:0011138	HP:0007592	Aplasia/Hypoplastia of the eccrine sweat glands	3	CL E G H
HP:0011138	HP:0010730	Double eyebrow	3	CL E G H
HP:0011138	HP:0009886	Trichorrhexis nodosa	3	CL E G H
HP:0011138	HP:0011313	Narrow nail	3	CL E G H
HP:0011138	HP:0001596	Alopecia	3	CL E G H
HP:0011138	HP:0011359	Dry hair	3	CL E G H
HP:0011138	HP:0011367	Yellow nails	3	CL E G H
HP:0011138	HP:0011228	Horizontal eyebrow	3	CL E G H
HP:0011138	HP:0001809	Split nail	3	CL E G H
HP:0011138	HP:0007665	Curly eyelashes	3	CL E G H
HP:0011138	HP:0002224	Woolly hair	3	CL E G H
HP:0011138	HP:0001818	Paronychia	3	CL E G H
HP:0011138	HP:0040296	Abnormal location of the eyebrow	3	CL E G H
HP:0011138	HP:0001128	Trichiasis	3	CL E G H
HP:0011138	HP:0008070	Sparse hair	3	CL E G H
HP:0011138	HP:0008391	Dystrophic fingernails	3	CL E G H
HP:0011138	HP:0010747	Medial flaring of the eyebrow	3	CL E G H
HP:0011138	HP:0030818	Central nail canal	3	CL E G H
HP:0011138	HP:0011457	Loss of eyelashes	3	CL E G H
HP:0011138	HP:0001007	Hirsutism	3	CL E G H
HP:0011138	HP:0100133	Abnormality of the pubic hair	3	CL E G H
HP:0011138	HP:0009724	Subungual fibromas	3	CL E G H
HP:0011138	HP:0001598	Concave nail	3	CL E G H
HP:0011138	HP:0002226	White eyebrow	3	CL E G H
HP:0011138	HP:0001810	Dystrophic toenail	3	CL E G H
HP:0011138	HP:0011231	Prominent eyelashes	3	CL E G H
HP:0011138	HP:0025367	Trichoepithelioma	3	CL E G H
HP:0011138	HP:0011229	Broad eyebrow	3	CL E G H
HP:0011138	HP:0003329	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes	3	CL E G H
HP:0011138	HP:0100874	Thick hair	3	CL E G H
HP:0011138	HP:0040039	Onycholysis of fingernails	3	CL E G H
HP:0011138	HP:0001795	Hyperconvex nail	3	CL E G H
HP:0011138	HP:0040040	Toenail onycholysis	3	CL E G H
HP:0011138	HP:0031623	Brow ptosis	3	CL E G H
HP:0011138	HP:0045055	Tiger tail banding	3	CL E G H
HP:0011138	HP:0040169	Loose anagen hair	3	CL E G H
HP:0011138	HP:0033976	Volar fingernail	3	CL E G H
HP:0011138	HP:0001803	Nail pits	3	CL E G H
HP:0011138	HP:0002212	Curly hair	3	CL E G H
HP:0011138	HP:0100644	Melanonychia	3	CL E G H
HP:0011138	HP:0002209	Sparse scalp hair	3	CL E G H
HP:0011138	HP:0007387	Hypoplastic sweat glands	3	CL E G H
HP:0011138	HP:0030056	Uncombable hair	3	CL E G H
HP:0011138	HP:0008399	Circumungual hyperkeratosis	3	CL E G H
HP:0011138	HP:0004523	Long eyebrows	3	CL E G H
HP:0011138	HP:0041093	Beau's lines	3	CL E G H
HP:0011138	HP:0500262	Atrichia	3	CL E G H
HP:0011138	HP:0100134	Abnormality of the axillary hair	3	CL E G H
HP:0011138	HP:0001821	Broad nail	3	CL E G H
HP:0011138	HP:0009553	Abnormality of the hairline	3	CL E G H
HP:0011138	HP:0000574	Thick eyebrow	3	CL E G H
HP:0011138	HP:0002220	Melanin pigment aggregation in hair shafts	3	CL E G H
HP:0011138	HP:0008393	Congenital curved nail of fourth toe	3	CL E G H
HP:0011138	HP:0025470	Telogen effluvium	3	CL E G H
HP:0011138	HP:0011312	Fused nails	3	CL E G H
HP:0011138	HP:0002297	Red hair	3	CL E G H
HP:0011138	HP:0100797	Toenail dysplasia	3	CL E G H
HP:0011138	HP:0008401	Onychogryposis of toenails	3	CL E G H
HP:0011138	HP:0011136	Aplasia of the sweat glands	3	CL E G H
HP:0011138	HP:0003777	Pili torti	3	CL E G H
HP:0011138	HP:0012742	Thin fingernail	3	CL E G H
HP:0011138	HP:0040051	Abnormality of upper eyelashes	3	CL E G H
HP:0011138	HP:0002208	Coarse hair	3	CL E G H
HP:0011138	HP:0001820	Leukonychia	3	CL E G H
HP:0011138	HP:0007397	Axillary apocrine gland hypoplasia	3	CL E G H
HP:0011138	HP:0001792	Small nail	3	CL E G H
HP:0011138	HP:0002553	Highly arched eyebrow	3	CL E G H
HP:0011138	HP:0011360	Acquired abnormal hair pattern	3	CL E G H
HP:0011138	HP:0008383	Slow-growing nails	3	CL E G H
HP:0011138	HP:0001807	Ridged nail	3	CL E G H
HP:0011138	HP:0002213	Fine hair	3	CL E G H
HP:0011138	HP:0011230	Laterally extended eyebrow	3	CL E G H
HP:0011138	HP:0000527	Long eyelashes	3	CL E G H
HP:0011138	HP:0025469	Anagen effluvium	3	CL E G H
HP:0011138	HP:0100804	Ungual fibroma	3	CL E G H
HP:0011138	HP:0001804	Hypoplastic fingernail	3	CL E G H
HP:0011138	HP:0010793	Bifid nail	3	CL E G H
HP:0011138	HP:0008410	Subungual hyperkeratotic fragments	3	CL E G H
HP:0011138	HP:0001814	Deep-set nails	3	CL E G H
HP:0011138	HP:0040052	Abnormality of lower eyelashes	3	CL E G H
HP:0011138	HP:0012746	Thin toenail	3	CL E G H
HP:0011138	HP:0040036	Onychogryposis of fingernail	3	CL E G H
HP:0011138	HP:0002293	Alopecia of scalp	3	CL E G H
HP:0011138	HP:0200102	Sparse or absent eyelashes	3	CL E G H
HP:0011138	HP:0000998	Hypertrichosis	3	CL E G H
HP:0011138	HP:0002235	Pili canaliculi	3	CL E G H
HP:0011138	HP:0011363	Abnormality of hair growth rate	3	CL E G H
HP:0011138	HP:0008402	Ridged fingernail	3	CL E G H
HP:0011138	HP:0008390	Recurrent loss of toenails and fingernails	3	CL E G H
HP:0011138	HP:0100038	Slow-growing scalp hair	3	CL E G H
HP:0011138	HP:0001799	Short nail	3	CL E G H
HP:0011138	HP:0005599	Hypopigmentation of hair	3	CL E G H
HP:0011138	HP:0030806	Fast-growing nails	3	CL E G H
HP:0011138	HP:0030803	Platonychia	3	CL E G H
HP:0011138	HP:0002209	Sparse scalp hair	4	CL E G H
HP:0011138	HP:0011913	Lumbar hypertrichosis	4	CL E G H
HP:0011138	HP:0002292	Frontal balding	4	CL E G H
HP:0011138	HP:0002287	Progressive alopecia	4	CL E G H
HP:0011138	HP:0040149	Woolly scalp hair	4	CL E G H
HP:0011138	HP:0004528	Generalized hypotrichosis	4	CL E G H
HP:0011138	HP:0001800	Hypoplastic toenails	4	CL E G H
HP:0011138	HP:0002230	Generalized hirsutism	4	CL E G H
HP:0011138	HP:0007464	Sparse facial hair	4	CL E G H
HP:0011138	HP:0000599	Abnormality of the frontal hairline	4	CL E G H
HP:0011138	HP:0007933	Broad lateral eyebrow	4	CL E G H
HP:0011138	HP:0008400	Onycholysis of distal fingernails	4	CL E G H
HP:0011138	HP:0001812	Hyperconvex fingernails	4	CL E G H
HP:0011138	HP:0007776	Sparse lower eyelashes	4	CL E G H
HP:0011138	HP:0004780	Elbow hypertrichosis	4	CL E G H
HP:0011138	HP:0040054	Short upper eyelashes	4	CL E G H
HP:0011138	HP:0002234	Early balding	4	CL E G H
HP:0011138	HP:0011358	Generalized hypopigmentation of hair	4	CL E G H
HP:0011138	HP:0002289	Alopecia universalis	4	CL E G H
HP:0011138	HP:0031283	Tufted hairs	4	CL E G H
HP:0011138	HP:0011365	Patchy hypopigmentation of hair	4	CL E G H
HP:0011138	HP:0002231	Sparse body hair	4	CL E G H
HP:0011138	HP:0008398	Hypoplastic fifth fingernail	4	CL E G H
HP:0011138	HP:0009553	Abnormality of the hairline	4	CL E G H
HP:0011138	HP:0004527	Large clumps of pigment irregularly distributed along hair shaft	4	CL E G H
HP:0011138	HP:0009554	Preauricular hair displacement	4	CL E G H
HP:0011138	HP:0040055	Short lower eyelashes	4	CL E G H
HP:0011138	HP:0004552	Scarring alopecia of scalp	4	CL E G H
HP:0011138	HP:0004540	Congenital, generalized hypertrichosis	4	CL E G H
HP:0011138	HP:0040042	Aplasia of the eccrine sweat glands	4	CL E G H
HP:0011138	HP:0007840	Long upper eyelashes	4	CL E G H
HP:0011138	HP:0002555	Absent pubic hair	4	CL E G H
HP:0011138	HP:0004554	Generalized hypertrichosis	4	CL E G H
HP:0011138	HP:0004768	Sparse anterior scalp hair	4	CL E G H
HP:0011138	HP:0000653	Sparse eyelashes	4	CL E G H
HP:0011138	HP:0011914	Thoracic hypertrichosis	4	CL E G H
HP:0011138	HP:0007740	Long eyelashes in irregular rows	4	CL E G H
HP:0011138	HP:0045075	Sparse eyebrow	4	CL E G H
HP:0011138	HP:0002215	Sparse axillary hair	4	CL E G H
HP:0011138	HP:0001804	Hypoplastic fingernail	4	CL E G H
HP:0011138	HP:0008009	Three rows of eyelashes	4	CL E G H
HP:0011138	HP:0012845	Single trichilemmoma	4	CL E G H
HP:0011138	HP:0045074	Thin eyebrow	4	CL E G H
HP:0011138	HP:0032497	Reduced terminal:vellus ratio	4	CL E G H
HP:0011138	HP:0040053	Long lower eyelashes	4	CL E G H
HP:0011138	HP:0004524	Temporal hypotrichosis	4	CL E G H
HP:0011138	HP:0002293	Alopecia of scalp	4	CL E G H
HP:0011138	HP:0000561	Absent eyelashes	4	CL E G H
HP:0011138	HP:0004535	Anterior cervical hypertrichosis	4	CL E G H
HP:0011138	HP:0010731	Extension of eyebrows towards upper eyelid	4	CL E G H
HP:0011138	HP:0002217	Slow-growing hair	4	CL E G H
HP:0011138	HP:0030055	Hyperconvex toenail	4	CL E G H
HP:0011138	HP:0002550	Absent facial hair	4	CL E G H
HP:0011138	HP:0001022	Albinism	4	CL E G H
HP:0011138	HP:0004532	Sacral hypertrichosis	4	CL E G H
HP:0011138	HP:0002232	Patchy alopecia	4	CL E G H
HP:0011138	HP:0001802	Absent toenail	4	CL E G H
HP:0011138	HP:0030141	Abnormality of the posterior hairline	4	CL E G H
HP:0011138	HP:0002223	Absent eyebrow	4	CL E G H
HP:0011138	HP:0002296	Progressive hypotrichosis	4	CL E G H
HP:0011138	HP:0010721	Abnormal hair whorl	4	CL E G H
HP:0011138	HP:0009743	Distichiasis	4	CL E G H
HP:0011138	HP:0009889	Localized hirsutism	4	CL E G H
HP:0011138	HP:0012846	Multiple trichilemmomata	4	CL E G H
HP:0011138	HP:0032496	Elevated terminal:vellus ratio	4	CL E G H
HP:0011138	HP:0002225	Sparse pubic hair	4	CL E G H
HP:0011138	HP:0012553	Hypoplastic thumbnail	4	CL E G H
HP:0011138	HP:0007534	Congenital posterior occipital alopecia	4	CL E G H
HP:0011138	HP:0004771	Premature graying of body hair	4	CL E G H
HP:0011138	HP:0001817	Absent fingernail	4	CL E G H
HP:0011138	HP:0034003	Broad medial eyebrow	4	CL E G H
HP:0011138	HP:0008407	Hyperconvex thumb nails	4	CL E G H
HP:0011138	HP:0002221	Absent axillary hair	4	CL E G H
HP:0011138	HP:0004779	Brittle scalp hair	4	CL E G H
HP:0011138	HP:0002219	Facial hypertrichosis	4	CL E G H
HP:0011138	HP:0040043	Hypoplasia of the eccrine sweat glands	4	CL E G H
HP:0011138	HP:0045018	Partial duplication of eyebrows	4	CL E G H
HP:0011138	HP:0040050	Sparse upper eyelashes	4	CL E G H
HP:0011138	HP:0007418	Alopecia totalis	4	CL E G H
HP:0011138	HP:0040056	Absent upper eyelashes	5	CL E G H
HP:0011138	HP:0002286	Fair hair	5	CL E G H
HP:0011138	HP:0002290	Poliosis	5	CL E G H
HP:0011138	HP:0005338	Sparse lateral eyebrow	5	CL E G H
HP:0011138	HP:0008398	Hypoplastic fifth fingernail	5	CL E G H
HP:0011138	HP:0002236	Frontal upsweep of hair	5	CL E G H
HP:0011138	HP:0009554	Preauricular hair displacement	5	CL E G H
HP:0011138	HP:0009747	Lumbosacral hirsutism	5	CL E G H
HP:0011138	HP:0009890	High anterior hairline	5	CL E G H
HP:0011138	HP:0004552	Scarring alopecia of scalp	5	CL E G H
HP:0011138	HP:0007708	Absent inner eyelashes	5	CL E G H
HP:0011138	HP:0012554	Absent thumbnail	5	CL E G H
HP:0011138	HP:0000294	Low anterior hairline	5	CL E G H
HP:0011138	HP:0004768	Sparse anterior scalp hair	5	CL E G H
HP:0011138	HP:0012555	Absent nail of hallux	5	CL E G H
HP:0011138	HP:0012891	High posterior hairline	5	CL E G H
HP:0011138	HP:0000535	Sparse and thin eyebrow	5	CL E G H
HP:0011138	HP:0010814	Abnormal position of hair whorl	5	CL E G H
HP:0011138	HP:0009937	Facial hirsutism	5	CL E G H
HP:0011138	HP:0000561	Absent eyelashes	5	CL E G H
HP:0011138	HP:0033975	Absent second fingernail	5	CL E G H
HP:0011138	HP:0040050	Sparse upper eyelashes	5	CL E G H
HP:0011138	HP:0005597	Congenital alopecia totalis	5	CL E G H
HP:0011138	HP:0004529	Atrophic, patchy alopecia	5	CL E G H
HP:0011138	HP:0011364	White hair	5	CL E G H
HP:0011138	HP:0200105	Absent fifth toenail	5	CL E G H
HP:0011138	HP:0030141	Abnormality of the posterior hairline	5	CL E G H
HP:0011138	HP:0010813	Abnormal number of hair whorls	5	CL E G H
HP:0011138	HP:0034042	Dorsal hirsutism	5	CL E G H
HP:0011138	HP:0012553	Hypoplastic thumbnail	5	CL E G H
HP:0011138	HP:0005325	Extension of hair growth on temples to lateral eyebrow	5	CL E G H
HP:0011138	HP:0200104	Absent fifth fingernail	5	CL E G H
HP:0011138	HP:0100038	Slow-growing scalp hair	5	CL E G H
HP:0011138	HP:0007646	Absent lower eyelashes	5	CL E G H
HP:0011138	HP:0032313	Frontotemporal hypertrichosis	5	CL E G H
HP:0011138	HP:0002218	Silver-gray hair	5	CL E G H
HP:0011138	HP:0000664	Synophrys	5	CL E G H
HP:0011138	HP:0002211	White forelock	5	CL E G H
HP:0011138	HP:0011937	Hypoplastic fifth toenail	5	CL E G H
HP:0011138	HP:0002162	Low posterior hairline	5	CL E G H
HP:0011138	HP:0025325	Sparse medial eyebrow	5	CL E G H
HP:0011138	HP:0000599	Abnormality of the frontal hairline	5	CL E G H
HP:0011138	HP:0007776	Sparse lower eyelashes	5	CL E G H
HP:0011138	HP:0004768	Sparse anterior scalp hair	6	CL E G H
HP:0011138	HP:0012891	High posterior hairline	6	CL E G H
HP:0011138	HP:0005325	Extension of hair growth on temples to lateral eyebrow	6	CL E G H
HP:0011138	HP:0007646	Absent lower eyelashes	6	CL E G H
HP:0011138	HP:0002162	Low posterior hairline	6	CL E G H
HP:0011138	HP:0000349	Widow's peak	6	CL E G H
HP:0011138	HP:0011335	Frontal hirsutism	6	CL E G H
HP:0011138	HP:0040056	Absent upper eyelashes	6	CL E G H
HP:0011138	HP:0009890	High anterior hairline	6	CL E G H
HP:0011138	HP:0007708	Absent inner eyelashes	6	CL E G H
HP:0011138	HP:0000294	Low anterior hairline	6	CL E G H
HP:0011138	HP:0000349	Widow's peak	7	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.

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