Human Phenotype Ontology 
Grandparent Node:
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Abnormal hair morphology (HP:0001595)help
Parent Node:
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Abnormal hair quantity (HP:0011362)help
..Starting node
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Alopecia (HP:0001596)help
Term ID: 1596
Name: Alopecia
Synonym: Hair loss
Definition: A noncongenital process of hair loss, which may progress to partial or complete baldness.
Comments:
Reference: HP:0001596
Genes and Diseases:
 
       Child Nodes:
........expandAlopecia areata (HP:0002229) help
........expandPatchy alopecia (HP:0002232) help
................... HP:0004529 Atrophic, patchy alopecia
........expandProgressive alopecia (HP:0002287) help
........expandAlopecia universalis (HP:0002289) help
........expandAlopecia of scalp (HP:0002293) help
................... HP:0004552 Scarring alopecia of scalp
........expandAlopecia totalis (HP:0007418) help
................... HP:0005597 Congenital alopecia totalis

 Sister Nodes: 
..expandAbsent hair (HP:0002298) help
..expandAnagen effluvium (HP:0025469) help
..expandHirsutism (HP:0001007) help
..expandHypertrichosis (HP:0000998) help
..expandobsolete Hypotrichosis (HP:0001006) help
..expandTelogen effluvium (HP:0025470) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001596HP:0001596Alopecia0ABCA12 CL E G H2615414637ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent130
HP:0001596HP:0001596Alopecia0ABCD1 CL E G H21561OMIM:300100Adrenoleukodystrophy135
HP:0001596HP:0001596Alopecia0ABHD5 CL E G H5109921396OMIM:275630Chanarin-Dorfman syndrome.90
HP:0001596HP:0001596Alopecia0ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosisHP:0040282 - Frequent90
HP:0001596HP:0001596Alopecia0ACVR1 CL E G H90171OMIM:135100Fibrodysplasia ossificans progressiva.49
HP:0001596HP:0001596Alopecia0ACVR1 CL E G H90171ORPHA:337Fibrodysplasia ossificans progressivaHP:0040282 - Frequent49
HP:0001596HP:0001596Alopecia0ADA CL E G H100186ORPHA:39041Omenn syndromeHP:0040281 - Very frequent75
HP:0001596HP:0001596Alopecia0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040283 - Occasional
HP:0001596HP:0001596Alopecia0AHSG CL E G H197349ORPHA:2850Alopecia-intellectual disability syndromeHP:0040281 - Very frequent5
HP:0001596HP:0001596Alopecia0AHSG CL E G H197349OMIM:203650Alopecia-Mental retardation syndrome 15
HP:0001596HP:0001596Alopecia0AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0001596HP:0001596Alopecia0AIRE CL E G H326360ORPHA:3453Autoimmune polyendocrinopathy type 1HP:0040283 - Occasional92
HP:0001596HP:0001596Alopecia0ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome.404
HP:0001596HP:0001596Alopecia0ALOX12B CL E G H242430ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent75
HP:0001596HP:0001596Alopecia0ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 2HP:0040283 - Occasional75
HP:0001596HP:0001596Alopecia0ALOXE3 CL E G H5934413743ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent63
HP:0001596HP:0001596Alopecia0ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 2HP:0040283 - Occasional63
HP:0001596HP:0001596Alopecia0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2HP:0040283 - Occasional132
HP:0001596HP:0001596Alopecia0ALX4 CL E G H60529450ORPHA:228390Frontonasal dysplasia-alopecia-genital anomalies syndromeHP:0040281 - Very frequent132
HP:0001596HP:0001596Alopecia0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 12
HP:0001596HP:0001596Alopecia0ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndromeHP:0040281 - Very frequent8
HP:0001596HP:0001596Alopecia0ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome.8
HP:0001596HP:0001596Alopecia0AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness.
HP:0001596HP:0001596Alopecia0APCDD1 CL E G H14749515718ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent1
HP:0001596HP:0001596Alopecia0ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional147
HP:0001596HP:0001596Alopecia0ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1.147
HP:0001596HP:0001596Alopecia0ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia7
HP:0001596HP:0001596Alopecia0ATP7A CL E G H538869OMIM:309400Menkes disease192
HP:0001596HP:0001596Alopecia0ATR CL E G H545882OMIM:614564Cutaneous telangiectasia and cancer syndrome, familial.168
HP:0001596HP:0001596Alopecia0BANF1 CL E G H881517397OMIM:614008Nestor-Guillermo progeria syndrome22
HP:0001596HP:0001596Alopecia0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0001596HP:0001596Alopecia0BCS1L CL E G H6171020ORPHA:123Björnstad syndromeHP:0040281 - Very frequent72
HP:0001596HP:0001596Alopecia0BCS1L CL E G H6171020OMIM:262000Bjornstad syndrome.72
HP:0001596HP:0001596Alopecia0BLM CL E G H6411058ORPHA:125Bloom syndrome314
HP:0001596HP:0001596Alopecia0BMP2 CL E G H6501069OMIM:235200Hemochromatosis, type 1.13
HP:0001596HP:0001596Alopecia0BTD CL E G H6861122ORPHA:79241Biotinidase deficiencyHP:0040283 - Occasional223
HP:0001596HP:0001596Alopecia0BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset.223
HP:0001596HP:0001596Alopecia0BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemiaHP:0040283 - Occasional109
HP:0001596HP:0001596Alopecia0BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040283 - Occasional1
HP:0001596HP:0001596Alopecia0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0001596HP:0001596Alopecia0CASR CL E G H8461514ORPHA:428Autosomal dominant hypocalcemiaHP:0040282 - Frequent272
HP:0001596HP:0001596Alopecia0CD28 CL E G H9401653ORPHA:2584Classic mycosis fungoidesHP:0040282 - Frequent
HP:0001596HP:0001596Alopecia0CD28 CL E G H9401653ORPHA:3162Sézary syndromeHP:0040282 - Frequent
HP:0001596HP:0001596Alopecia0CDSN CL E G H10411802ORPHA:90368Hypotrichosis simplex of the scalp7
HP:0001596HP:0001596Alopecia0CERS3 CL E G H20421923752ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent5
HP:0001596HP:0001596Alopecia0CHD7 CL E G H5563620626ORPHA:39041Omenn syndromeHP:0040281 - Very frequent515
HP:0001596HP:0001596Alopecia0CLDN1 CL E G H90762032OMIM:607626Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis.11
HP:0001596HP:0001596Alopecia0CLDN1 CL E G H90762032ORPHA:59303Neonatal ichthyosis-sclerosing cholangitis syndrome11
HP:0001596HP:0001596Alopecia0COL17A1 CL E G H13082194OMIM:619787EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4129
HP:0001596HP:0001596Alopecia0COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosa129
HP:0001596HP:0001596Alopecia0COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosa129
HP:0001596HP:0001596Alopecia0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1.177
HP:0001596HP:0001596Alopecia0COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0001596HP:0001596Alopecia0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0001596HP:0001596Alopecia0COL7A1 CL E G H12942214OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.263
HP:0001596HP:0001596Alopecia0CSTB CL E G H14762482ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasiaHP:0040282 - Frequent51
HP:0001596HP:0001596Alopecia0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional160
HP:0001596HP:0001596Alopecia0CTLA4 CL E G H14932505ORPHA:2584Classic mycosis fungoidesHP:0040282 - Frequent10
HP:0001596HP:0001596Alopecia0CTLA4 CL E G H14932505ORPHA:3162Sézary syndromeHP:0040282 - Frequent10
HP:0001596HP:0001596Alopecia0CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndromeHP:0040283 - Occasional4
HP:0001596HP:0001596Alopecia0CYP11B1 CL E G H15842591ORPHA:90795Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiencyHP:0040283 - Occasional112
HP:0001596HP:0001596Alopecia0DCAF17 CL E G H8006725784ORPHA:3464Woodhouse-Sakati syndromeHP:0040281 - Very frequent87
HP:0001596HP:0001596Alopecia0DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome.87
HP:0001596HP:0001596Alopecia0DCLRE1C CL E G H6442117642OMIM:603554Omenn syndrome.94
HP:0001596HP:0001596Alopecia0DCLRE1C CL E G H6442117642ORPHA:39041Omenn syndromeHP:0040281 - Very frequent94
HP:0001596HP:0001596Alopecia0DCLRE1C CL E G H6442117642OMIM:602450Severe combined immunodeficiency with sensitivity to ionizing radiation94
HP:0001596HP:0001596Alopecia0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional30
HP:0001596HP:0001596Alopecia0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional65
HP:0001596HP:0001596Alopecia0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0001596HP:0001596Alopecia0DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional9
HP:0001596HP:0001596Alopecia0DMXL2 CL E G H233122938ORPHA:453533Polyendocrine-polyneuropathy syndromeHP:0040282 - Frequent3
HP:0001596HP:0001596Alopecia0DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional18
HP:0001596HP:0001596Alopecia0DOLK CL E G H2284523406OMIM:610768Congenital disorder of glycosylation, type Im55
HP:0001596HP:0001596Alopecia0DSG4 CL E G H14740921307ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent63
HP:0001596HP:0001596Alopecia0DSG4 CL E G H14740921307ORPHA:573Monilethrix63
HP:0001596HP:0001596Alopecia0DSP CL E G H18323052OMIM:609638EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA747
HP:0001596HP:0001596Alopecia0DSP CL E G H18323052ORPHA:158687Lethal acantholytic erosive disorder747
HP:0001596HP:0001596Alopecia0DSP CL E G H18323052OMIM:607655Skin fragility-woolly hair syndrome.747
HP:0001596HP:0001596Alopecia0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional14
HP:0001596HP:0001596Alopecia0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional5
HP:0001596HP:0001596Alopecia0EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant.51
HP:0001596HP:0001596Alopecia0EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0001596HP:0001596Alopecia0ECM1 CL E G H18933153ORPHA:530Lipoid proteinosis14
HP:0001596HP:0001596Alopecia0ECM1 CL E G H18933153OMIM:247100Urbach-Wiethe disease14
HP:0001596HP:0001596Alopecia0EDAR CL E G H109132895ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasiaHP:0040282 - Frequent86
HP:0001596HP:0001596Alopecia0EDARADD CL E G H12817814341ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasiaHP:0040282 - Frequent56
HP:0001596HP:0001596Alopecia0EDNRA CL E G H19093179OMIM:616367Mandibulofacial dysostosis with alopecia.3
HP:0001596HP:0001596Alopecia0EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional4
HP:0001596HP:0001596Alopecia0EPS8L3 CL E G H7957421297OMIM:612841Hypotrichosis 5.
HP:0001596HP:0001596Alopecia0EPS8L3 CL E G H7957421297ORPHA:444Marie Unna hereditary hypotrichosisHP:0040281 - Very frequent
HP:0001596HP:0001596Alopecia0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0001596HP:0001596Alopecia0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional106
HP:0001596HP:0001596Alopecia0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0001596HP:0001596Alopecia0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional54
HP:0001596HP:0001596Alopecia0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional158
HP:0001596HP:0001596Alopecia0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional83
HP:0001596HP:0001596Alopecia0EXOSC2 CL E G H2340417097OMIM:617763Short stature, hearing loss, retinitis pigmentosa, and distinctive facies.
HP:0001596HP:0001596Alopecia0FAM111B CL E G H37439324200OMIM:615704Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis.6
HP:0001596HP:0001596Alopecia0FGFR1 CL E G H22603688OMIM:613001Encephalocraniocutaneous lipomatosis.172
HP:0001596HP:0001596Alopecia0FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040281 - Very frequent172
HP:0001596HP:0001596Alopecia0FLI1 CL E G H23133749OMIM:617443Bleeding disorder, platelet-type, 21HP:0040284 - Very rare8
HP:0001596HP:0001596Alopecia0FLNA CL E G H23163754ORPHA:88630Terminal osseous dysplasia-pigmentary defects syndrome493
HP:0001596HP:0001596Alopecia0FOXN1 CL E G H845612765ORPHA:169095Severe combined immunodeficiency due to FOXN1 deficiency54
HP:0001596HP:0001596Alopecia0FOXN1 CL E G H845612765OMIM:601705T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY.HP:0003577 - Congenital onset54
HP:0001596HP:0001596Alopecia0FOXP3 CL E G H509436106ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndromeHP:0040284 - Very rare32
HP:0001596HP:0001596Alopecia0FOXP3 CL E G H509436106OMIM:304790Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked32
HP:0001596HP:0001596Alopecia0FTL CL E G H25123999OMIM:615604L-ferritin deficiency, dominant and recessive.33
HP:0001596HP:0001596Alopecia0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional
HP:0001596HP:0001596Alopecia0GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyria29
HP:0001596HP:0001596Alopecia0GJA1 CL E G H26974274ORPHA:317Erythrokeratodermia variabilisHP:0040282 - Frequent68
HP:0001596HP:0001596Alopecia0GJA1 CL E G H26974274OMIM:104100Palmoplantar keratoderma with congenital alopecia68
HP:0001596HP:0001596Alopecia0GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness199
HP:0001596HP:0001596Alopecia0GJB2 CL E G H27064284ORPHA:494Keratoderma hereditarium mutilansHP:0040283 - Occasional199
HP:0001596HP:0001596Alopecia0GJB2 CL E G H27064284ORPHA:477KID syndromeHP:0040282 - Frequent199
HP:0001596HP:0001596Alopecia0GJB3 CL E G H27074285ORPHA:317Erythrokeratodermia variabilisHP:0040282 - Frequent74
HP:0001596HP:0001596Alopecia0GJB4 CL E G H1275344286ORPHA:317Erythrokeratodermia variabilisHP:0040282 - Frequent12
HP:0001596HP:0001596Alopecia0GJB6 CL E G H108044288OMIM:129500Clouston syndrome.56
HP:0001596HP:0001596Alopecia0GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasiaHP:0040281 - Very frequent56
HP:0001596HP:0001596Alopecia0GJB6 CL E G H108044288ORPHA:477KID syndromeHP:0040282 - Frequent56
HP:0001596HP:0001596Alopecia0GNA11 CL E G H27674379ORPHA:428Autosomal dominant hypocalcemiaHP:0040282 - Frequent16
HP:0001596HP:0001596Alopecia0GNAS CL E G H27784392ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia101
HP:0001596HP:0001596Alopecia0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0001596HP:0001596Alopecia0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0001596HP:0001596Alopecia0H6PD CL E G H95634795OMIM:604931Cortisone reductase deficiency 18
HP:0001596HP:0001596Alopecia0HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0001596HP:0001596Alopecia0HFE CL E G H30774886OMIM:235200Hemochromatosis, type 1.38
HP:0001596HP:0001596Alopecia0HFE CL E G H30774886OMIM:176100Porphyria cutanea tarda.38
HP:0001596HP:0001596Alopecia0HLA-B CL E G H31064932ORPHA:397Giant cell arteritisHP:0040282 - Frequent4
HP:0001596HP:0001596Alopecia0HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1.
HP:0001596HP:0001596Alopecia0HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1.
HP:0001596HP:0001596Alopecia0HLA-DRA CL E G H31224947ORPHA:505Graham Little-Piccardi-Lassueur syndromeHP:0040281 - Very frequent
HP:0001596HP:0001596Alopecia0HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritisHP:0040282 - Frequent2
HP:0001596HP:0001596Alopecia0HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040283 - Occasional2
HP:0001596HP:0001596Alopecia0HLCS CL E G H31414976ORPHA:79242Holocarboxylase synthetase deficiencyHP:0040283 - Occasional148
HP:0001596HP:0001596Alopecia0HLCS CL E G H31414976OMIM:253270Holocarboxylase synthetase deficiency.148
HP:0001596HP:0001596Alopecia0HR CL E G H558065172ORPHA:701Alopecia universalis106
HP:0001596HP:0001596Alopecia0HR CL E G H558065172OMIM:203655Alopecia universalis congenita.106
HP:0001596HP:0001596Alopecia0HR CL E G H558065172ORPHA:444Marie Unna hereditary hypotrichosisHP:0040281 - Very frequent106
HP:0001596HP:0001596Alopecia0HRAS CL E G H32655173ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent113
HP:0001596HP:0001596Alopecia0HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0001596HP:0001596Alopecia0HRAS CL E G H32655173OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.113
HP:0001596HP:0001596Alopecia0HRURF CL E G H12076613755085OMIM:146550Marie unna hereditary hypotrichosis 1.
HP:0001596HP:0001596Alopecia0HTRA1 CL E G H56549476OMIM:600142Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).34
HP:0001596HP:0001596Alopecia0HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0001596HP:0001596Alopecia0IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti52
HP:0001596HP:0001596Alopecia0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040282 - Frequent52
HP:0001596HP:0001596Alopecia0IL2RA CL E G H35596008OMIM:606367IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD4165
HP:0001596HP:0001596Alopecia0IL2RG CL E G H35616010ORPHA:39041Omenn syndromeHP:0040281 - Very frequent48
HP:0001596HP:0001596Alopecia0IL7R CL E G H35756024ORPHA:39041Omenn syndromeHP:0040281 - Very frequent94
HP:0001596HP:0001596Alopecia0IL7R CL E G H35756024ORPHA:169154T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiencyHP:0040283 - Occasional94
HP:0001596HP:0001596Alopecia0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0001596HP:0001596Alopecia0IRAK1 CL E G H36546112ORPHA:93552Pediatric systemic lupus erythematosusHP:0040284 - Very rare
HP:0001596HP:0001596Alopecia0ITGB4 CL E G H36916158ORPHA:158684Epidermolysis bullosa simplex with pyloric atresia124
HP:0001596HP:0001596Alopecia0ITGB4 CL E G H36916158OMIM:619816EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A124
HP:0001596HP:0001596Alopecia0ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosa124
HP:0001596HP:0001596Alopecia0ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosa124
HP:0001596HP:0001596Alopecia0ITGB6 CL E G H36946161ORPHA:2850Alopecia-intellectual disability syndromeHP:0040281 - Very frequent8
HP:0001596HP:0001596Alopecia0JUP CL E G H37286207ORPHA:158687Lethal acantholytic erosive disorder222
HP:0001596HP:0001596Alopecia0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0001596HP:0001596Alopecia0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0001596HP:0001596Alopecia0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0001596HP:0001596Alopecia0KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutation81
HP:0001596HP:0001596Alopecia0KDSR CL E G H25314021ORPHA:317Erythrokeratodermia variabilisHP:0040282 - Frequent4
HP:0001596HP:0001596Alopecia0KLHL24 CL E G H5480025947OMIM:617294Epidermolysis bullosa simplex, generalized, with scarring and hair loss5
HP:0001596HP:0001596Alopecia0KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040281 - Very frequent196
HP:0001596HP:0001596Alopecia0KRAS CL E G H38456407ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent196
HP:0001596HP:0001596Alopecia0KRAS CL E G H38456407OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.196
HP:0001596HP:0001596Alopecia0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040282 - Frequent110
HP:0001596HP:0001596Alopecia0KRT14 CL E G H38616416OMIM:125595Dermatopathia pigmentosa reticularis110
HP:0001596HP:0001596Alopecia0KRT14 CL E G H38616416ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040283 - Occasional110
HP:0001596HP:0001596Alopecia0KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenitaHP:0040284 - Very rare27
HP:0001596HP:0001596Alopecia0KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenitaHP:0040284 - Very rare23
HP:0001596HP:0001596Alopecia0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040282 - Frequent173
HP:0001596HP:0001596Alopecia0KRT5 CL E G H38526442ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040283 - Occasional173
HP:0001596HP:0001596Alopecia0KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenitaHP:0040284 - Very rare41
HP:0001596HP:0001596Alopecia0KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenitaHP:0040284 - Very rare4
HP:0001596HP:0001596Alopecia0KRT74 CL E G H12139128929OMIM:614929Ectodermal dysplasia 7, Hair/nail type.5
HP:0001596HP:0001596Alopecia0KRT74 CL E G H12139128929ORPHA:90368Hypotrichosis simplex of the scalp5
HP:0001596HP:0001596Alopecia0KRT81 CL E G H38876458OMIM:158000MONILETHRIX.3
HP:0001596HP:0001596Alopecia0KRT81 CL E G H38876458ORPHA:573Monilethrix3
HP:0001596HP:0001596Alopecia0KRT83 CL E G H38896460ORPHA:573Monilethrix65
HP:0001596HP:0001596Alopecia0KRT83 CL E G H38896460OMIM:158000MONILETHRIX.65
HP:0001596HP:0001596Alopecia0KRT85 CL E G H38916462OMIM:602032Ectodermal dysplasia 4, Hair/nail type.2
HP:0001596HP:0001596Alopecia0KRT86 CL E G H38926463OMIM:158000MONILETHRIX.10
HP:0001596HP:0001596Alopecia0KRT86 CL E G H38926463ORPHA:573Monilethrix10
HP:0001596HP:0001596Alopecia0LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosa116
HP:0001596HP:0001596Alopecia0LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional116
HP:0001596HP:0001596Alopecia0LAMB3 CL E G H39146490OMIM:226650Epidermolysis bullosa, junctional, Non-Herlitz type167
HP:0001596HP:0001596Alopecia0LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosa167
HP:0001596HP:0001596Alopecia0LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional167
HP:0001596HP:0001596Alopecia0LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosa135
HP:0001596HP:0001596Alopecia0LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional135
HP:0001596HP:0001596Alopecia0LIG4 CL E G H39816601ORPHA:39041Omenn syndromeHP:0040281 - Very frequent88
HP:0001596HP:0001596Alopecia0LIPH CL E G H20087918483ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent12
HP:0001596HP:0001596Alopecia0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0001596HP:0001596Alopecia0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndrome645
HP:0001596HP:0001596Alopecia0LMNA CL E G H40006636OMIM:176670Hutchinson-Gilford progeria syndrome.645
HP:0001596HP:0001596Alopecia0LMNA CL E G H40006636ORPHA:363618LMNA-related cardiocutaneous progeria syndrome645
HP:0001596HP:0001596Alopecia0LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia.645
HP:0001596HP:0001596Alopecia0LMNA CL E G H40006636ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophyHP:0040281 - Very frequent645
HP:0001596HP:0001596Alopecia0LORICRIN CL E G H40146663ORPHA:79395Keratoderma hereditarium mutilans with ichthyosis
HP:0001596HP:0001596Alopecia0LPAR6 CL E G H1016115520ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent8
HP:0001596HP:0001596Alopecia0LSS CL E G H40476708ORPHA:2850Alopecia-intellectual disability syndromeHP:0040281 - Very frequent2
HP:0001596HP:0001596Alopecia0LSS CL E G H40476708OMIM:618840ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR42
HP:0001596HP:0001596Alopecia0LSS CL E G H40476708ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent2
HP:0001596HP:0001596Alopecia0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0001596HP:0001596Alopecia0MBTPS2 CL E G H5136015455ORPHA:85284BRESEK syndromeHP:0040281 - Very frequent22
HP:0001596HP:0001596Alopecia0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040281 - Very frequent22
HP:0001596HP:0001596Alopecia0MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome.22
HP:0001596HP:0001596Alopecia0MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked22
HP:0001596HP:0001596Alopecia0MBTPS2 CL E G H5136015455ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040283 - Occasional22
HP:0001596HP:0001596Alopecia0MBTPS2 CL E G H5136015455OMIM:300918Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked22
HP:0001596HP:0001596Alopecia0MCCC2 CL E G H640876937OMIM:2102103-Methylcrotonyl-CoA carboxylase 2 deficiency.77
HP:0001596HP:0001596Alopecia0MGP CL E G H42567060ORPHA:85202Keutel syndromeHP:0040283 - Occasional33
HP:0001596HP:0001596Alopecia0MMP1 CL E G H43127155OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.6
HP:0001596HP:0001596Alopecia0MOGS CL E G H784124862ORPHA:79330MOGS-CDGHP:0040283 - Occasional37
HP:0001596HP:0001596Alopecia0MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0001596HP:0001596Alopecia0MTX2 CL E G H106517506ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophyHP:0040281 - Very frequent
HP:0001596HP:0001596Alopecia0NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndromeHP:0040282 - Frequent4
HP:0001596HP:0001596Alopecia0NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 1.7
HP:0001596HP:0001596Alopecia0NFKB1 CL E G H47907794OMIM:616576IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID127
HP:0001596HP:0001596Alopecia0NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndromeHP:0040282 - Frequent11
HP:0001596HP:0001596Alopecia0NFKB2 CL E G H47917795OMIM:615577Immunodeficiency, common variable, 1011
HP:0001596HP:0001596Alopecia0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional27
HP:0001596HP:0001596Alopecia0NIPAL4 CL E G H34893828018ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent60
HP:0001596HP:0001596Alopecia0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional17
HP:0001596HP:0001596Alopecia0NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional452
HP:0001596HP:0001596Alopecia0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional12
HP:0001596HP:0001596Alopecia0NRAS CL E G H48937989ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent102
HP:0001596HP:0001596Alopecia0NRAS CL E G H48937989OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.102
HP:0001596HP:0001596Alopecia0NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0001596HP:0001596Alopecia0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional2
HP:0001596HP:0001596Alopecia0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040283 - Occasional1
HP:0001596HP:0001596Alopecia0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I.201
HP:0001596HP:0001596Alopecia0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040283 - Occasional201
HP:0001596HP:0001596Alopecia0P4HA2 CL E G H89748547ORPHA:397Giant cell arteritisHP:0040282 - Frequent3
HP:0001596HP:0001596Alopecia0PADI3 CL E G H5170218337ORPHA:1410Uncombable hair syndrome3
HP:0001596HP:0001596Alopecia0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional26
HP:0001596HP:0001596Alopecia0PARN CL E G H50738609OMIM:616353Dyskeratosis congenita, autosomal recessive 6.26
HP:0001596HP:0001596Alopecia0PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0001596HP:0001596Alopecia0PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0001596HP:0001596Alopecia0PERP CL E G H6406517637ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040283 - Occasional
HP:0001596HP:0001596Alopecia0PERP CL E G H6406517637OMIM:619208OLMSTED SYNDROME 2; OLMS2
HP:0001596HP:0001596Alopecia0PEX7 CL E G H51918860OMIM:215100Rhizomelic chondrodysplasia punctata, type 1.72
HP:0001596HP:0001596Alopecia0PI4KA CL E G H52978983ORPHA:436252Combined immunodeficiency-enteropathy spectrum11
HP:0001596HP:0001596Alopecia0PIK3R1 CL E G H52958979ORPHA:3163SHORT syndromeHP:0040282 - Frequent43
HP:0001596HP:0001596Alopecia0PKP1 CL E G H53179023ORPHA:158668Ectodermal dysplasia-skin fragility syndrome107
HP:0001596HP:0001596Alopecia0PKP1 CL E G H53179023OMIM:604536ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME107
HP:0001596HP:0001596Alopecia0PLEC CL E G H53399069OMIM:226670Epidermolysis bullosa simplex with muscular dystrophy759
HP:0001596HP:0001596Alopecia0PLEC CL E G H53399069ORPHA:257Epidermolysis bullosa simplex with muscular dystrophyHP:0040281 - Very frequent759
HP:0001596HP:0001596Alopecia0PLEC CL E G H53399069ORPHA:158684Epidermolysis bullosa simplex with pyloric atresia759
HP:0001596HP:0001596Alopecia0PNPLA1 CL E G H28584821246ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent47
HP:0001596HP:0001596Alopecia0PNPLA6 CL E G H1090816268OMIM:275400Oliver-Mcfarlane syndrome.103
HP:0001596HP:0001596Alopecia0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0001596HP:0001596Alopecia0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040282 - Frequent20
HP:0001596HP:0001596Alopecia0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:0001596HP:0001596Alopecia0PRKACA CL E G H55669380OMIM:615830Pigmented nodular adrenocortical disease, primary, 4.2
HP:0001596HP:0001596Alopecia0PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical disease2
HP:0001596HP:0001596Alopecia0PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical disease134
HP:0001596HP:0001596Alopecia0PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0001596HP:0001596Alopecia0PTPN22 CL E G H261919652ORPHA:397Giant cell arteritisHP:0040282 - Frequent3
HP:0001596HP:0001596Alopecia0RAG1 CL E G H58969831OMIM:603554Omenn syndrome.127
HP:0001596HP:0001596Alopecia0RAG1 CL E G H58969831ORPHA:39041Omenn syndromeHP:0040281 - Very frequent127
HP:0001596HP:0001596Alopecia0RAG2 CL E G H58979832ORPHA:39041Omenn syndromeHP:0040281 - Very frequent50
HP:0001596HP:0001596Alopecia0RAG2 CL E G H58979832OMIM:603554Omenn syndrome.50
HP:0001596HP:0001596Alopecia0RBM28 CL E G H5513121863OMIM:612079Alopecia, neurologic defects, and endocrinopathy syndrome.1
HP:0001596HP:0001596Alopecia0RBM28 CL E G H5513121863ORPHA:157954ANE syndromeHP:0040282 - Frequent1
HP:0001596HP:0001596Alopecia0RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional3
HP:0001596HP:0001596Alopecia0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2445
HP:0001596HP:0001596Alopecia0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0001596HP:0001596Alopecia0RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0001596HP:0001596Alopecia0RIN2 CL E G H5445318750OMIM:613075Macs syndrome.43
HP:0001596HP:0001596Alopecia0RIPK4 CL E G H54101496ORPHA:1234Bartsocas-Papas syndrome69
HP:0001596HP:0001596Alopecia0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0001596HP:0001596Alopecia0RMRP CL E G H602310031ORPHA:39041Omenn syndromeHP:0040281 - Very frequent37
HP:0001596HP:0001596Alopecia0RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0001596HP:0001596Alopecia0RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and IIIHP:0040281 - Very frequent15
HP:0001596HP:0001596Alopecia0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional120
HP:0001596HP:0001596Alopecia0RPL21 CL E G H614410313ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent1
HP:0001596HP:0001596Alopecia0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional77
HP:0001596HP:0001596Alopecia0SASH1 CL E G H2332819182OMIM:618373Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma.1
HP:0001596HP:0001596Alopecia0SLC27A4 CL E G H1099910998OMIM:608649ICHTHYOSIS PREMATURITY SYNDROME; IPS26
HP:0001596HP:0001596Alopecia0SLC29A3 CL E G H5531523096ORPHA:168569H syndromeHP:0040283 - Occasional68
HP:0001596HP:0001596Alopecia0SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0001596HP:0001596Alopecia0SLC30A2 CL E G H778011013OMIM:608118Zinc deficiency, transient neonatal3
HP:0001596HP:0001596Alopecia0SLC39A4 CL E G H5563017129ORPHA:37Acrodermatitis enteropathicaHP:0040281 - Very frequent55
HP:0001596HP:0001596Alopecia0SLC39A4 CL E G H5563017129OMIM:201100Acrodermatitis enteropathica, Zinc-Deficiency type55
HP:0001596HP:0001596Alopecia0SLITRK1 CL E G H11479820297OMIM:613229TRICHOTILLOMANIA.58
HP:0001596HP:0001596Alopecia0SMARCA2 CL E G H659511098ORPHA:3051Nicolaides-Baraitser syndromeHP:0040281 - Very frequent146
HP:0001596HP:0001596Alopecia0SNRPE CL E G H663511161OMIM:615059Hypotrichosis 11.2
HP:0001596HP:0001596Alopecia0SNRPE CL E G H663511161ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent2
HP:0001596HP:0001596Alopecia0SOX18 CL E G H5434511194OMIM:607823Hypotrichosis-Lymphedema-Telangiectasia syndrome.7
HP:0001596HP:0001596Alopecia0SOX18 CL E G H5434511194ORPHA:69735Hypotrichosis-lymphedema-telangiectasia-renal defect syndromeHP:0040281 - Very frequent7
HP:0001596HP:0001596Alopecia0SOX18 CL E G H5434511194OMIM:137940Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome.7
HP:0001596HP:0001596Alopecia0SPP1 CL E G H669611255ORPHA:93552Pediatric systemic lupus erythematosusHP:0040284 - Very rare
HP:0001596HP:0001596Alopecia0SREBF1 CL E G H672011289OMIM:158310Mucoepithelial dysplasia, hereditary.1
HP:0001596HP:0001596Alopecia0STAT4 CL E G H677511365ORPHA:93552Pediatric systemic lupus erythematosusHP:0040284 - Very rare2
HP:0001596HP:0001596Alopecia0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040284 - Very rare14
HP:0001596HP:0001596Alopecia0TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0001596HP:0001596Alopecia0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional48
HP:0001596HP:0001596Alopecia0TERC CL E G H701211727OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.48
HP:0001596HP:0001596Alopecia0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional238
HP:0001596HP:0001596Alopecia0TERT CL E G H701511730OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.238
HP:0001596HP:0001596Alopecia0TGM1 CL E G H705111777ORPHA:100976Bathing suit ichthyosisHP:0040283 - Occasional98
HP:0001596HP:0001596Alopecia0TGM1 CL E G H705111777ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent98
HP:0001596HP:0001596Alopecia0TGM1 CL E G H705111777OMIM:242300Ichthyosis, congenital, autosomal recessive 1HP:0040283 - Occasional98
HP:0001596HP:0001596Alopecia0TGM3 CL E G H705311779ORPHA:1410Uncombable hair syndrome1
HP:0001596HP:0001596Alopecia0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional60
HP:0001596HP:0001596Alopecia0TINF2 CL E G H2627711824OMIM:613990Dyskeratosis congenita, autosomal dominant 3.60
HP:0001596HP:0001596Alopecia0TINF2 CL E G H2627711824OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.60
HP:0001596HP:0001596Alopecia0TLR7 CL E G H5128415631OMIM:301080
HP:0001596HP:0001596Alopecia0TNFRSF1B CL E G H713311917ORPHA:2584Classic mycosis fungoidesHP:0040282 - Frequent
HP:0001596HP:0001596Alopecia0TNFRSF1B CL E G H713311917ORPHA:3162Sézary syndromeHP:0040282 - Frequent
HP:0001596HP:0001596Alopecia0TP63 CL E G H862615979OMIM:103285Adult syndrome140
HP:0001596HP:0001596Alopecia0TP63 CL E G H862615979ORPHA:978ADULT syndromeHP:0040282 - Frequent140
HP:0001596HP:0001596Alopecia0TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate140
HP:0001596HP:0001596Alopecia0TP63 CL E G H862615979ORPHA:69085Limb-mammary syndromeHP:0040284 - Very rare140
HP:0001596HP:0001596Alopecia0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0001596HP:0001596Alopecia0TRPV3 CL E G H16251418084ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040283 - Occasional151
HP:0001596HP:0001596Alopecia0TRPV3 CL E G H16251418084OMIM:614594Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques151
HP:0001596HP:0001596Alopecia0TTC7A CL E G H5721719750ORPHA:436252Combined immunodeficiency-enteropathy spectrum26
HP:0001596HP:0001596Alopecia0TYMS CL E G H729812441OMIM:6200401
HP:0001596HP:0001596Alopecia0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional1
HP:0001596HP:0001596Alopecia0UBR1 CL E G H19713116808ORPHA:2315Johanson-Blizzard syndromeHP:0040281 - Very frequent25
HP:0001596HP:0001596Alopecia0UQCRFS1 CL E G H738612587OMIM:618775MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001596HP:0001596Alopecia0UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyria31
HP:0001596HP:0001596Alopecia0UROD CL E G H738912591OMIM:176100Porphyria cutanea tarda.31
HP:0001596HP:0001596Alopecia0UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyria41
HP:0001596HP:0001596Alopecia0UROS CL E G H739012592OMIM:263700Porphyria, congenital erythropoietic.41
HP:0001596HP:0001596Alopecia0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional8
HP:0001596HP:0001596Alopecia0VDR CL E G H742112679ORPHA:93160Hypocalcemic vitamin D-resistant ricketsHP:0040282 - Frequent104
HP:0001596HP:0001596Alopecia0VDR CL E G H742112679OMIM:277440Vitamin d-dependent rickets, type 2A104
HP:0001596HP:0001596Alopecia0WNT10A CL E G H8032613829ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasiaHP:0040282 - Frequent71
HP:0001596HP:0001596Alopecia0WNT10A CL E G H8032613829ORPHA:50944Schöpf-Schulz-Passarge syndromeHP:0040282 - Frequent71
HP:0001596HP:0001596Alopecia0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional98
HP:0001596HP:0001596Alopecia0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional40
HP:0001596HP:0001596Alopecia0WRN CL E G H748612791OMIM:277700Werner syndrome310
HP:0001596HP:0001596Alopecia0XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional34
HP:0001596HP:0001596Alopecia0XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional86
HP:0001596HP:0001596Alopecia0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndrome83
HP:0001596HP:0001596Alopecia0ZMPSTE24 CL E G H1026912877ORPHA:90154Mandibuloacral dysplasia with type B lipodystrophyHP:0040282 - Frequent83
HP:0001596HP:0001596Alopecia0ZMPSTE24 CL E G H1026912877OMIM:608612Mandibuloacral dysplasia with type B lipodystrophy.83
HP:0001596HP:0001596Alopecia0ZNF341 CL E G H8490515992OMIM:618282Hyper-Ige recurrent infection syndrome 3, autosomal recessiveHP:0040284 - Very rare1
HP:0001596HP:0001596Alopecia0ZPR1 CL E G H888213051OMIM:619321GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0001596HP:0002289Alopecia universalis1AHSG CL E G H197349OMIM:203650Alopecia-Mental retardation syndrome 1.5
HP:0001596HP:0002289Alopecia universalis1AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0001596HP:0007418Alopecia totalis1ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0001596HP:0007418Alopecia totalis1ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040283 - Occasional2
HP:0001596HP:0002232Patchy alopecia1BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040283 - Occasional314
HP:0001596HP:0002293Alopecia of scalp1CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0001596HP:0002293Alopecia of scalp1CDSN CL E G H10411802ORPHA:90368Hypotrichosis simplex of the scalp7
HP:0001596HP:0002293Alopecia of scalp1CLDN1 CL E G H90762032ORPHA:59303Neonatal ichthyosis-sclerosing cholangitis syndrome11
HP:0001596HP:0002293Alopecia of scalp1COL17A1 CL E G H13082194OMIM:619787EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4129
HP:0001596HP:0002293Alopecia of scalp1COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosa129
HP:0001596HP:0002293Alopecia of scalp1COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosa129
HP:0001596HP:0002232Patchy alopecia1COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosa129
HP:0001596HP:0002293Alopecia of scalp1COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0001596HP:0002293Alopecia of scalp1COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type.749
HP:0001596HP:0002293Alopecia of scalp1DCLRE1C CL E G H6442117642OMIM:602450Severe combined immunodeficiency with sensitivity to ionizing radiation94
HP:0001596HP:0002232Patchy alopecia1DSG4 CL E G H14740921307ORPHA:573MonilethrixHP:0040281 - Very frequent63
HP:0001596HP:0002289Alopecia universalis1DSP CL E G H18323052OMIM:609638EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA747
HP:0001596HP:0007418Alopecia totalis1DSP CL E G H18323052OMIM:609638EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA747
HP:0001596HP:0007418Alopecia totalis1DSP CL E G H18323052ORPHA:158687Lethal acantholytic erosive disorder747
HP:0001596HP:0002232Patchy alopecia1EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant51
HP:0001596HP:0002232Patchy alopecia1EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0001596HP:0002293Alopecia of scalp1EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0001596HP:0002293Alopecia of scalp1ECM1 CL E G H18933153ORPHA:530Lipoid proteinosisHP:0040282 - Frequent14
HP:0001596HP:0002232Patchy alopecia1ECM1 CL E G H18933153OMIM:247100Urbach-Wiethe disease.14
HP:0001596HP:0002293Alopecia of scalp1ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0001596HP:0002293Alopecia of scalp1ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0001596HP:0007418Alopecia totalis1FOXN1 CL E G H845612765ORPHA:169095Severe combined immunodeficiency due to FOXN1 deficiency54
HP:0001596HP:0002293Alopecia of scalp1GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyria29
HP:0001596HP:0002293Alopecia of scalp1GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness199
HP:0001596HP:0002293Alopecia of scalp1GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0001596HP:0007418Alopecia totalis1GJB6 CL E G H108044288OMIM:129500Clouston syndrome.56
HP:0001596HP:0002293Alopecia of scalp1GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0001596HP:0002293Alopecia of scalp1GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0001596HP:0002293Alopecia of scalp1GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0001596HP:0002232Patchy alopecia1HR CL E G H558065172ORPHA:701Alopecia universalisHP:0040281 - Very frequent106
HP:0001596HP:0002289Alopecia universalis1HR CL E G H558065172ORPHA:701Alopecia universalisHP:0040281 - Very frequent106
HP:0001596HP:0002289Alopecia universalis1HR CL E G H558065172OMIM:203655Alopecia universalis congenita.106
HP:0001596HP:0002232Patchy alopecia1HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0001596HP:0002293Alopecia of scalp1HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0001596HP:0002232Patchy alopecia1IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti52
HP:0001596HP:0002232Patchy alopecia1IL2RA CL E G H35596008OMIM:606367IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD4165
HP:0001596HP:0002289Alopecia universalis1IL2RA CL E G H35596008OMIM:606367IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD4165
HP:0001596HP:0002293Alopecia of scalp1ITGB4 CL E G H36916158ORPHA:158684Epidermolysis bullosa simplex with pyloric atresia124
HP:0001596HP:0002293Alopecia of scalp1ITGB4 CL E G H36916158OMIM:619816EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A124
HP:0001596HP:0002293Alopecia of scalp1ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosa124
HP:0001596HP:0002232Patchy alopecia1ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosa124
HP:0001596HP:0002293Alopecia of scalp1ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosa124
HP:0001596HP:0007418Alopecia totalis1JUP CL E G H37286207ORPHA:158687Lethal acantholytic erosive disorder222
HP:0001596HP:0002232Patchy alopecia1KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0001596HP:0002232Patchy alopecia1KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutationHP:0040281 - Very frequent81
HP:0001596HP:0002293Alopecia of scalp1KLHL24 CL E G H5480025947OMIM:617294Epidermolysis bullosa simplex, generalized, with scarring and hair loss5
HP:0001596HP:0002293Alopecia of scalp1KRT14 CL E G H38616416OMIM:125595Dermatopathia pigmentosa reticularis.110
HP:0001596HP:0002293Alopecia of scalp1KRT74 CL E G H12139128929ORPHA:90368Hypotrichosis simplex of the scalp5
HP:0001596HP:0002232Patchy alopecia1KRT81 CL E G H38876458ORPHA:573MonilethrixHP:0040281 - Very frequent3
HP:0001596HP:0002232Patchy alopecia1KRT83 CL E G H38896460ORPHA:573MonilethrixHP:0040281 - Very frequent65
HP:0001596HP:0002232Patchy alopecia1KRT86 CL E G H38926463ORPHA:573MonilethrixHP:0040281 - Very frequent10
HP:0001596HP:0002293Alopecia of scalp1LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosa116
HP:0001596HP:0002232Patchy alopecia1LAMB3 CL E G H39146490OMIM:226650Epidermolysis bullosa, junctional, Non-Herlitz type167
HP:0001596HP:0002293Alopecia of scalp1LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosa167
HP:0001596HP:0002293Alopecia of scalp1LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosa135
HP:0001596HP:0007418Alopecia totalis1LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent645
HP:0001596HP:0002232Patchy alopecia1LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent645
HP:0001596HP:0002289Alopecia universalis1LMNA CL E G H40006636ORPHA:363618LMNA-related cardiocutaneous progeria syndromeHP:0040281 - Very frequent645
HP:0001596HP:0002293Alopecia of scalp1MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0001596HP:0002293Alopecia of scalp1MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked22
HP:0001596HP:0007418Alopecia totalis1MBTPS2 CL E G H5136015455OMIM:300918Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked.22
HP:0001596HP:0002293Alopecia of scalp1MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0001596HP:0002232Patchy alopecia1NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 1.7
HP:0001596HP:0007418Alopecia totalis1NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndromeHP:0040283 - Occasional11
HP:0001596HP:0007418Alopecia totalis1NFKB2 CL E G H47917795OMIM:615577Immunodeficiency, common variable, 1011
HP:0001596HP:0002232Patchy alopecia1PADI3 CL E G H5170218337ORPHA:1410Uncombable hair syndromeHP:0040283 - Occasional3
HP:0001596HP:0002289Alopecia universalis1PERP CL E G H6406517637OMIM:619208OLMSTED SYNDROME 2; OLMS2
HP:0001596HP:0002293Alopecia of scalp1PI4KA CL E G H52978983ORPHA:436252Combined immunodeficiency-enteropathy spectrumHP:0040283 - Occasional11
HP:0001596HP:0002289Alopecia universalis1PKP1 CL E G H53179023ORPHA:158668Ectodermal dysplasia-skin fragility syndromeHP:0040282 - Frequent107
HP:0001596HP:0002293Alopecia of scalp1PKP1 CL E G H53179023OMIM:604536ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME107
HP:0001596HP:0002293Alopecia of scalp1PLEC CL E G H53399069OMIM:226670Epidermolysis bullosa simplex with muscular dystrophy759
HP:0001596HP:0002293Alopecia of scalp1PLEC CL E G H53399069ORPHA:158684Epidermolysis bullosa simplex with pyloric atresia759
HP:0001596HP:0002293Alopecia of scalp1POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0001596HP:0002232Patchy alopecia1PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0001596HP:0007418Alopecia totalis1RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2HP:0040283 - Occasional445
HP:0001596HP:0002293Alopecia of scalp1RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0001596HP:0007418Alopecia totalis1RIPK4 CL E G H54101496ORPHA:1234Bartsocas-Papas syndromeHP:0040281 - Very frequent69
HP:0001596HP:0007418Alopecia totalis1RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0001596HP:0002293Alopecia of scalp1RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0001596HP:0002293Alopecia of scalp1SLC27A4 CL E G H1099910998OMIM:608649ICHTHYOSIS PREMATURITY SYNDROME; IPS26
HP:0001596HP:0002293Alopecia of scalp1SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0001596HP:0002293Alopecia of scalp1SLC39A4 CL E G H5563017129OMIM:201100Acrodermatitis enteropathica, Zinc-Deficiency type.55
HP:0001596HP:0002289Alopecia universalis1SNRPE CL E G H663511161OMIM:615059Hypotrichosis 112
HP:0001596HP:0002293Alopecia of scalp1TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0001596HP:0002232Patchy alopecia1TGM3 CL E G H705311779ORPHA:1410Uncombable hair syndromeHP:0040283 - Occasional1
HP:0001596HP:0002293Alopecia of scalp1TP63 CL E G H862615979OMIM:103285Adult syndrome.140
HP:0001596HP:0002232Patchy alopecia1TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate.140
HP:0001596HP:0002287Progressive alopecia1TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome.140
HP:0001596HP:0002289Alopecia universalis1TRPV3 CL E G H16251418084OMIM:614594Palmoplantar keratoderma, mutilating, with periorificial keratoticplaquesHP:0040283 - Occasional151
HP:0001596HP:0002293Alopecia of scalp1TTC7A CL E G H5721719750ORPHA:436252Combined immunodeficiency-enteropathy spectrumHP:0040283 - Occasional26
HP:0001596HP:0007418Alopecia totalis1UQCRFS1 CL E G H738612587OMIM:618775MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001596HP:0002293Alopecia of scalp1UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyria31
HP:0001596HP:0002293Alopecia of scalp1UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyria41
HP:0001596HP:0002289Alopecia universalis1VDR CL E G H742112679OMIM:277440Vitamin d-dependent rickets, type 2A.104
HP:0001596HP:0002293Alopecia of scalp1WRN CL E G H748612791OMIM:277700Werner syndrome310
HP:0001596HP:0002232Patchy alopecia1ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent83
HP:0001596HP:0007418Alopecia totalis1ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent83
HP:0001596HP:0004552Scarring alopecia of scalp2CLDN1 CL E G H90762032ORPHA:59303Neonatal ichthyosis-sclerosing cholangitis syndromeHP:0040281 - Very frequent11
HP:0001596HP:0004552Scarring alopecia of scalp2COL17A1 CL E G H13082194OMIM:619787EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4129
HP:0001596HP:0004552Scarring alopecia of scalp2COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent129
HP:0001596HP:0004552Scarring alopecia of scalp2COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosaHP:0040283 - Occasional129
HP:0001596HP:0004529Atrophic, patchy alopecia2COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosaHP:0040282 - Frequent129
HP:0001596HP:0005597Congenital alopecia totalis2DSP CL E G H18323052ORPHA:158687Lethal acantholytic erosive disorderHP:0040282 - Frequent747
HP:0001596HP:0004552Scarring alopecia of scalp2EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctataHP:0040281 - Very frequent51
HP:0001596HP:0005597Congenital alopecia totalis2FOXN1 CL E G H845612765ORPHA:169095Severe combined immunodeficiency due to FOXN1 deficiencyHP:0040281 - Very frequent54
HP:0001596HP:0004552Scarring alopecia of scalp2GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyriaHP:0040283 - Occasional29
HP:0001596HP:0004552Scarring alopecia of scalp2GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness.199
HP:0001596HP:0004552Scarring alopecia of scalp2GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0001596HP:0004552Scarring alopecia of scalp2GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0001596HP:0004529Atrophic, patchy alopecia2IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti.52
HP:0001596HP:0004552Scarring alopecia of scalp2ITGB4 CL E G H36916158ORPHA:158684Epidermolysis bullosa simplex with pyloric atresiaHP:0040283 - Occasional124
HP:0001596HP:0004552Scarring alopecia of scalp2ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent124
HP:0001596HP:0004529Atrophic, patchy alopecia2ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosaHP:0040282 - Frequent124
HP:0001596HP:0004552Scarring alopecia of scalp2ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosaHP:0040283 - Occasional124
HP:0001596HP:0005597Congenital alopecia totalis2JUP CL E G H37286207ORPHA:158687Lethal acantholytic erosive disorderHP:0040282 - Frequent222
HP:0001596HP:0004552Scarring alopecia of scalp2LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent116
HP:0001596HP:0004552Scarring alopecia of scalp2LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent167
HP:0001596HP:0004552Scarring alopecia of scalp2LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent135
HP:0001596HP:0004552Scarring alopecia of scalp2MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked.22
HP:0001596HP:0004552Scarring alopecia of scalp2PLEC CL E G H53399069OMIM:226670Epidermolysis bullosa simplex with muscular dystrophy.759
HP:0001596HP:0004552Scarring alopecia of scalp2PLEC CL E G H53399069ORPHA:158684Epidermolysis bullosa simplex with pyloric atresiaHP:0040283 - Occasional759
HP:0001596HP:0004552Scarring alopecia of scalp2RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0001596HP:0004552Scarring alopecia of scalp2UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyriaHP:0040283 - Occasional31
HP:0001596HP:0004552Scarring alopecia of scalp2UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyriaHP:0040283 - Occasional41


Genes (228) :ABCA12 ABCD1 ABHD5 ACVR1 ADA AEBP1 AHSG AIRE ALMS1 ALOX12B ALOXE3 ALX4 ANAPC1 ANTXR1 AP1B1 APCDD1 ARHGAP31 ARMC5 ATP7A ATR BANF1 BAP1 BCS1L BLM BMP2 BTD BTK BTNL2 CARS1 CASR CD28 CDSN CERS3 CHD7 CLDN1 COL17A1 COL18A1 COL3A1 COL7A1 CSTB CTC1 CTLA4 CWC27 CYP11B1 DCAF17 DCLRE1C DDB2 DKC1 DLL4 DMXL2 DOCK6 DOLK DSG4 DSP DVL1 DVL3 EBP ECM1 EDAR EDARADD EDNRA EOGT EPS8L3 ERCC2 ERCC3 ERCC4 ERCC5 EXOSC2 FAM111B FGFR1 FLI1 FLNA FOXN1 FOXP3 FTL FZD2 GATA1 GJA1 GJB2 GJB3 GJB4 GJB6 GNA11 GNAS GTF2E2 GTF2H5 H6PD HEPHL1 HFE HLA-B HLA-DQA1 HLA-DQB1 HLA-DRA HLA-DRB1 HLCS HR HRAS HRURF HTRA1 IKBKG IL2RA IL2RG IL7R IPO8 IRAK1 ITGB4 ITGB6 JUP KANSL1 KDM5C KDSR KLHL24 KRAS KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B KRT74 KRT81 KRT83 KRT85 KRT86 LAMA3 LAMB3 LAMC2 LIG4 LIPH LMNA LORICRIN LPAR6 LSS MAP2K2 MBTPS2 MCCC2 MGP MMP1 MOGS MPLKIP MTX2 NECTIN1 NECTIN4 NFKB1 NFKB2 NHP2 NIPAL4 NOP10 NOTCH1 NPM1 NRAS NSDHL NXN ODC1 OFD1 P4HA2 PADI3 PARN PDE11A PDE8B PERP PEX7 PI4KA PIK3R1 PKP1 PLEC PNPLA1 PNPLA6 POLR3A PORCN PRKACA PRKAR1A PRKCD PTPN22 RAG1 RAG2 RBM28 RBPJ RECQL4 RHOA RIN2 RIPK4 RMRP RNF113A RNU4ATAC ROR2 RPL21 RTEL1 SASH1 SLC27A4 SLC29A3 SLC30A2 SLC39A4 SLITRK1 SMARCA2 SNRPE SOX18 SPP1 SREBF1 STAT4 STUB1 TARS1 TERC TERT TGM1 TGM3 TINF2 TLR7 TNFRSF1B TP63 TRPV3 TTC7A TYMS UBR1 UQCRFS1 UROD UROS USB1 VDR WNT10A WNT5A WRAP53 WRN XPA XPC ZMPSTE24 ZNF341 ZPR1

Diseases (224) :ORPHA:79394 OMIM:300100 OMIM:275630 ORPHA:98907 OMIM:135100 ORPHA:337 ORPHA:39041 ORPHA:536532 ORPHA:2850 OMIM:203650 OMIM:240300 ORPHA:3453 OMIM:203800 OMIM:242100 OMIM:613451 ORPHA:228390 ORPHA:221008 ORPHA:2067 OMIM:230740 OMIM:242150 ORPHA:55654 ORPHA:974 OMIM:100300 ORPHA:189427 OMIM:309400 OMIM:614564 OMIM:614008 OMIM:619762 ORPHA:123 OMIM:262000 ORPHA:125 OMIM:235200 ORPHA:79241 OMIM:253260 ORPHA:47 ORPHA:797 ORPHA:33364 ORPHA:428 ORPHA:2584 ORPHA:3162 ORPHA:90368 OMIM:607626 ORPHA:59303 OMIM:619787 ORPHA:79402 ORPHA:251393 OMIM:267750 OMIM:130050 ORPHA:286 OMIM:226600 ORPHA:248 ORPHA:1775 ORPHA:166035 ORPHA:90795 ORPHA:3464 OMIM:241080 OMIM:603554 OMIM:602450 ORPHA:910 OMIM:305000 ORPHA:453533 OMIM:610768 ORPHA:573 OMIM:609638 ORPHA:158687 OMIM:607655 ORPHA:3107 OMIM:302960 ORPHA:35173 ORPHA:530 OMIM:247100 OMIM:616367 OMIM:612841 ORPHA:444 OMIM:617763 OMIM:615704 OMIM:613001 ORPHA:2396 OMIM:617443 ORPHA:88630 ORPHA:169095 OMIM:601705 ORPHA:37042 OMIM:304790 OMIM:615604 ORPHA:79277 ORPHA:317 OMIM:104100 OMIM:602540 ORPHA:494 ORPHA:477 OMIM:129500 ORPHA:189 OMIM:604931 OMIM:261990 OMIM:176100 ORPHA:397 OMIM:212750 ORPHA:505 ORPHA:79242 OMIM:253270 ORPHA:701 OMIM:203655 ORPHA:2612 ORPHA:2874 OMIM:163200 OMIM:146550 OMIM:600142 ORPHA:199354 OMIM:308300 ORPHA:464 OMIM:606367 ORPHA:169154 OMIM:619472 ORPHA:93552 ORPHA:158684 OMIM:619816 ORPHA:363958 ORPHA:363965 OMIM:300534 ORPHA:85279 OMIM:617294 ORPHA:79396 OMIM:125595 ORPHA:79397 ORPHA:2309 OMIM:614929 OMIM:158000 OMIM:602032 ORPHA:79404 OMIM:226650 ORPHA:79474 ORPHA:740 OMIM:176670 ORPHA:363618 OMIM:248370 ORPHA:90153 ORPHA:79395 OMIM:618840 OMIM:615280 ORPHA:85284 ORPHA:2273 OMIM:308205 OMIM:308800 ORPHA:659 OMIM:300918 OMIM:210210 ORPHA:85202 ORPHA:79330 ORPHA:3253 OMIM:613573 OMIM:616576 ORPHA:293978 OMIM:615577 OMIM:308050 ORPHA:1507 ORPHA:544488 OMIM:311200 ORPHA:2750 ORPHA:1410 OMIM:616353 ORPHA:189439 OMIM:619208 OMIM:215100 ORPHA:436252 ORPHA:3163 ORPHA:158668 OMIM:604536 OMIM:226670 ORPHA:257 OMIM:275400 OMIM:264090 ORPHA:2092 OMIM:305600 OMIM:615830 OMIM:615559 OMIM:612079 ORPHA:157954 ORPHA:221016 OMIM:268400 OMIM:618727 OMIM:613075 ORPHA:1234 OMIM:263650 ORPHA:2636 OMIM:618373 OMIM:608649 ORPHA:168569 OMIM:602782 OMIM:608118 ORPHA:37 OMIM:201100 OMIM:613229 ORPHA:3051 OMIM:615059 OMIM:607823 ORPHA:69735 OMIM:137940 OMIM:158310 ORPHA:412057 OMIM:127550 ORPHA:100976 OMIM:242300 OMIM:613990 OMIM:301080 OMIM:103285 ORPHA:978 OMIM:106260 ORPHA:69085 OMIM:129400 OMIM:614594 OMIM:620040 ORPHA:2315 OMIM:618775 ORPHA:95159 OMIM:263700 ORPHA:93160 OMIM:277440 ORPHA:50944 OMIM:277700 ORPHA:90154 OMIM:608612 OMIM:618282 OMIM:619321
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.