Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin physiology (HP:0011122)help
Grandparent Node:
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Increased inflammatory response (HP:0012649)help
Parent Node:
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Inflammatory abnormality of the skin (HP:0011123)help
..Starting node
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Eczema (HP:0000964)help
Term ID: 964
Name: Eczema
Synonym: Eczema
Definition: Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding.
Comments:
Reference: HP:0000964
Genes and Diseases:
 
       Child Nodes:
........expandEczematoid dermatitis (HP:0000976) help
........expandSeborrheic dermatitis (HP:0001051) help
................... HP:0007569 Generalized seborrheic dermatitis
........expandPerioral eczema (HP:0011127) help

 Sister Nodes: 
..expandAcne (HP:0001061) help
..expandAtopic dermatitis (HP:0001047) help
..expandCrusting erythematous dermatitis (HP:0007473) help
..expandCutaneous abscess (HP:0031292) help
..expandDeep dermal perivascular inflammatory infiltrate (HP:0031191) help
..expandErysipelas (HP:0001055) help
..expandErythema nodosum (HP:0012219) help
..expandErythroderma (HP:0001019) help
..expandFolliculitis (HP:0025084) help
..expandNeutrophilic infiltration of the skin (HP:0031234) help
..expandPerifolliculitis (HP:0012322) help
..expandPsoriasiform dermatitis (HP:0003765) help
..expandPustule (HP:0200039) help
..expandRecurrent skin infections (HP:0001581) help
..expandSkin rash (HP:0000988) help
..expandSuperficial dermal perivascular inflammatory infiltrate (HP:0031190) 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:0000964HP:0000964Eczema0AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000964HP:0000964Eczema0ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0000964HP:0000964Eczema0ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0000964HP:0000964Eczema0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0000964HP:0000964Eczema0AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiencyHP:0040283 - Occasional61
HP:0000964HP:0000964Eczema0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0000964HP:0000964Eczema0BTD CL E G H6861122ORPHA:79241Biotinidase deficiency223
HP:0000964HP:0000964Eczema0BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset223
HP:0000964HP:0000964Eczema0C5 CL E G H7271331OMIM:609536C5 deficiency16
HP:0000964HP:0000964Eczema0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0000964HP:0000964Eczema0CARD11 CL E G H8443316393OMIM:617638Immunodeficiency 11B with atopic dermatitis45
HP:0000964HP:0000964Eczema0CARD14 CL E G H7909216446ORPHA:2897Pityriasis rubra pilarisHP:0040283 - Occasional33
HP:0000964HP:0000964Eczema0CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0000964HP:0000964Eczema0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000964HP:0000964Eczema0CASP8 CL E G H8411509OMIM:607271CASPASE 8 DEFICIENCY37
HP:0000964HP:0000964Eczema0CASR CL E G H8461514ORPHA:428Autosomal dominant hypocalcemiaHP:0040283 - Occasional272
HP:0000964HP:0000964Eczema0CD28 CL E G H9401653ORPHA:2584Classic mycosis fungoidesHP:0040281 - Very frequent
HP:0000964HP:0000964Eczema0CD3G CL E G H9171675OMIM:615607Immunodeficiency 17.19
HP:0000964HP:0000964Eczema0CDSN CL E G H10411802ORPHA:90368Hypotrichosis simplex of the scalp7
HP:0000964HP:0000964Eczema0CFTR CL E G H10801884ORPHA:498359Aquagenic palmoplantar keratoderma1371
HP:0000964HP:0000964Eczema0CIB1 CL E G H1051916920ORPHA:302Epidermodysplasia verruciformis
HP:0000964HP:0000964Eczema0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0000964HP:0000964Eczema0CST6 CL E G H14742478OMIM:618535Ectodermal dysplasia 15, Hypohidrotic/hair type
HP:0000964HP:0000964Eczema0CSTA CL E G H14752481ORPHA:263534Acral peeling skin syndromeHP:0040282 - Frequent4
HP:0000964HP:0000964Eczema0CTLA4 CL E G H14932505OMIM:616100AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS510
HP:0000964HP:0000964Eczema0CTLA4 CL E G H14932505ORPHA:2584Classic mycosis fungoidesHP:0040281 - Very frequent10
HP:0000964HP:0000964Eczema0CYBA CL E G H15352577ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional27
HP:0000964HP:0000964Eczema0CYBA CL E G H15352577OMIM:233690GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE27
HP:0000964HP:0000964Eczema0CYBB CL E G H15362578ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional111
HP:0000964HP:0000964Eczema0CYBB CL E G H15362578OMIM:306400Chronic granulomatous disease, X-linked111
HP:0000964HP:0000964Eczema0CYBC1 CL E G H7941528672ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional
HP:0000964HP:0000964Eczema0CYBC1 CL E G H7941528672OMIM:618935GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0000964HP:0000964Eczema0DDX41 CL E G H5142818674OMIM:616871Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to.23
HP:0000964HP:0000964Eczema0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome.159
HP:0000964HP:0000964Eczema0DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 3.5
HP:0000964HP:0000964Eczema0DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare5
HP:0000964HP:0000964Eczema0DOCK8 CL E G H8170419191ORPHA:217390Combined immunodeficiency due to DOCK8 deficiency217
HP:0000964HP:0000964Eczema0DOCK8 CL E G H8170419191OMIM:243700Hyper-Ige recurrent infection syndrome, autosomal recessive.217
HP:0000964HP:0000964Eczema0EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0000964HP:0000964Eczema0EDAR CL E G H109132895ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040283 - Occasional86
HP:0000964HP:0000964Eczema0EDARADD CL E G H12817814341ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040283 - Occasional56
HP:0000964HP:0000964Eczema0EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare1
HP:0000964HP:0000964Eczema0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0000964HP:0000964Eczema0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0000964HP:0000964Eczema0FECH CL E G H22353647ORPHA:79278Autosomal erythropoietic protoporphyriaHP:0040283 - Occasional145
HP:0000964HP:0000964Eczema0FECH CL E G H22353647OMIM:177000Protoporphyria, erythropoietic, 1.145
HP:0000964HP:0000964Eczema0FLG CL E G H23123748OMIM:146700ICHTHYOSIS VULGARIS63
HP:0000964HP:0000964Eczema0FLI1 CL E G H23133749OMIM:617443Bleeding disorder, platelet-type, 21HP:0040284 - Very rare8
HP:0000964HP:0000964Eczema0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040283 - Occasional8
HP:0000964HP:0000964Eczema0FOCAD CL E G H5491423377OMIM:6199913
HP:0000964HP:0000964Eczema0FOXN1 CL E G H845612765OMIM:618806T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND54
HP:0000964HP:0000964Eczema0FOXP3 CL E G H509436106ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndromeHP:0040282 - Frequent32
HP:0000964HP:0000964Eczema0FOXP3 CL E G H509436106OMIM:304790Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked32
HP:0000964HP:0000964Eczema0GINS1 CL E G H983728980OMIM:617827Immunodeficiency 55.
HP:0000964HP:0000964Eczema0GNA11 CL E G H27674379ORPHA:428Autosomal dominant hypocalcemiaHP:0040283 - Occasional16
HP:0000964HP:0000964Eczema0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000964HP:0000964Eczema0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0000964HP:0000964Eczema0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0000964HP:0000964Eczema0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000964HP:0000964Eczema0H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0000964HP:0000964Eczema0HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndromeHP:0040282 - Frequent33
HP:0000964HP:0000964Eczema0HDAC4 CL E G H975914063OMIM:600430Chromosome 2q37 deletion syndrome.33
HP:0000964HP:0000964Eczema0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0000964HP:0000964Eczema0HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1.
HP:0000964HP:0000964Eczema0HLA-DQB1 CL E G H31194944ORPHA:703Bullous pemphigoidHP:0040281 - Very frequent
HP:0000964HP:0000964Eczema0HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1.
HP:0000964HP:0000964Eczema0HLA-DRB1 CL E G H31234948ORPHA:703Bullous pemphigoidHP:0040281 - Very frequent2
HP:0000964HP:0000964Eczema0HLCS CL E G H31414976ORPHA:79242Holocarboxylase synthetase deficiencyHP:0040283 - Occasional148
HP:0000964HP:0000964Eczema0HPGD CL E G H32485154ORPHA:1525Cranio-osteoarthropathyHP:0040283 - Occasional55
HP:0000964HP:0000964Eczema0HPGD CL E G H32485154OMIM:259100Hypertrophic osteoarthropathy, primary, autosomal recessive 155
HP:0000964HP:0000964Eczema0HPGD CL E G H32485154ORPHA:2796Pachydermoperiostosis55
HP:0000964HP:0000964Eczema0HSPA9 CL E G H33135244OMIM:616854Even-Plus syndrome6
HP:0000964HP:0000964Eczema0IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 728
HP:0000964HP:0000964Eczema0IGHG2 CL E G H35015526ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency1
HP:0000964HP:0000964Eczema0IGKC CL E G H35145716ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency5
HP:0000964HP:0000964Eczema0IL17RA CL E G H237655985OMIM:613953Immunodeficiency 51196
HP:0000964HP:0000964Eczema0IL2RA CL E G H35596008OMIM:606367IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD4165
HP:0000964HP:0000964Eczema0IL4R CL E G H35666015OMIM:147050Ige responsiveness, atopic.3
HP:0000964HP:0000964Eczema0IL6R CL E G H35706019OMIM:618944HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES51
HP:0000964HP:0000964Eczema0IL6ST CL E G H35726021OMIM:619752HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0000964HP:0000964Eczema0IL6ST CL E G H35726021OMIM:618523HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0000964HP:0000964Eczema0IL6ST CL E G H35726021OMIM:619751STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0000964HP:0000964Eczema0IL7 CL E G H35746023ORPHA:302Epidermodysplasia verruciformis
HP:0000964HP:0000964Eczema0IL7R CL E G H35756024OMIM:608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive.94
HP:0000964HP:0000964Eczema0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0000964HP:0000964Eczema0JAK1 CL E G H37166190OMIM:618999AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE12
HP:0000964HP:0000964Eczema0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0000964HP:0000964Eczema0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0000964HP:0000964Eczema0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome.283
HP:0000964HP:0000964Eczema0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0000964HP:0000964Eczema0KDF1 CL E G H12669526624ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040283 - Occasional1
HP:0000964HP:0000964Eczema0KRT1 CL E G H38486412ORPHA:530838KRT1-related diffuse nonepidermolytic keratoderma100
HP:0000964HP:0000964Eczema0KRT74 CL E G H12139128929ORPHA:90368Hypotrichosis simplex of the scalp5
HP:0000964HP:0000964Eczema0LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0000964HP:0000964Eczema0LGI3 CL E G H20319018711OMIM:620007
HP:0000964HP:0000964Eczema0LIG1 CL E G H39786598OMIM:619774IMMUNODEFICIENCY 96; IMD969
HP:0000964HP:0000964Eczema0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040282 - Frequent88
HP:0000964HP:0000964Eczema0LRRC32 CL E G H26154161OMIM:619074CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0000964HP:0000964Eczema0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040282 - Frequent22
HP:0000964HP:0000964Eczema0MCCC2 CL E G H640876937OMIM:2102103-Methylcrotonyl-CoA carboxylase 2 deficiency77
HP:0000964HP:0000964Eczema0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2Z8
HP:0000964HP:0000964Eczema0MPDU1 CL E G H95267207ORPHA:79323MPDU1-CDG32
HP:0000964HP:0000964Eczema0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0000964HP:0000964Eczema0MS4A2 CL E G H22067316OMIM:147050Ige responsiveness, atopic.1
HP:0000964HP:0000964Eczema0MSN CL E G H44787373OMIM:300988Immunodeficiency 50.2
HP:0000964HP:0000964Eczema0MTHFD1 CL E G H45227432OMIM:617780Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia.5
HP:0000964HP:0000964Eczema0MYSM1 CL E G H11480329401OMIM:618116Bone marrow failure syndrome 4.
HP:0000964HP:0000964Eczema0MYSM1 CL E G H11480329401ORPHA:508542Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndromeHP:0040283 - Occasional
HP:0000964HP:0000964Eczema0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0000964HP:0000964Eczema0NBEA CL E G H269607648OMIM:619157NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE3
HP:0000964HP:0000964Eczema0NCF1 CL E G H6533617660ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional13
HP:0000964HP:0000964Eczema0NCF1 CL E G H6533617660OMIM:233700Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I13
HP:0000964HP:0000964Eczema0NCF2 CL E G H46887661ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional67
HP:0000964HP:0000964Eczema0NCF2 CL E G H46887661OMIM:233710Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II67
HP:0000964HP:0000964Eczema0NCF4 CL E G H46897662ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional37
HP:0000964HP:0000964Eczema0NCF4 CL E G H46897662OMIM:613960Chronic granulomatous disease 3, autosomal recessive37
HP:0000964HP:0000964Eczema0NEK9 CL E G H9175418591OMIM:614262Arthrogryposis, perthes disease, and upward gaze palsy9
HP:0000964HP:0000964Eczema0NOD2 CL E G H641275331OMIM:186580Blau syndrome.187
HP:0000964HP:0000964Eczema0NSMCE3 CL E G H561607677OMIM:617241LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS2
HP:0000964HP:0000964Eczema0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040282 - Frequent84
HP:0000964HP:0000964Eczema0NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 5HP:0040283 - Occasional84
HP:0000964HP:0000964Eczema0NUP107 CL E G H5712229914OMIM:618348Galloway-Mowat syndrome 75
HP:0000964HP:0000964Eczema0PAH CL E G H50538582ORPHA:79254Classic phenylketonuriaHP:0040282 - Frequent641
HP:0000964HP:0000964Eczema0PCCA CL E G H50958653OMIM:606054Propionic acidemia.96
HP:0000964HP:0000964Eczema0PCCB CL E G H50968654OMIM:606054Propionic acidemia.92
HP:0000964HP:0000964Eczema0PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0000964HP:0000964Eczema0PGM3 CL E G H52388907OMIM:615816Immunodeficiency 2315
HP:0000964HP:0000964Eczema0PGM3 CL E G H52388907ORPHA:443811PGM3-CDGHP:0040281 - Very frequent15
HP:0000964HP:0000964Eczema0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 246
HP:0000964HP:0000964Eczema0PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0000964HP:0000964Eczema0PIK3CA CL E G H52908975ORPHA:276280Hemihyperplasia-multiple lipomatosis syndrome162
HP:0000964HP:0000964Eczema0PIK3CG CL E G H52948978OMIM:619802IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD972
HP:0000964HP:0000964Eczema0PLA2G7 CL E G H79419040OMIM:147050Ige responsiveness, atopic.5
HP:0000964HP:0000964Eczema0POLE CL E G H54269177OMIM:618336Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency.1129
HP:0000964HP:0000964Eczema0PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndromeHP:0040282 - Frequent6
HP:0000964HP:0000964Eczema0RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 48.3
HP:0000964HP:0000964Eczema0RAC1 CL E G H58799801ORPHA:500159Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromHP:0040283 - Occasional3
HP:0000964HP:0000964Eczema0RBCK1 CL E G H1061615864OMIM:615895Polyglucosan body myopathy 1 with or without immunodeficiencyHP:0040283 - Occasional10
HP:0000964HP:0000964Eczema0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0000964HP:0000964Eczema0RIT1 CL E G H601610023OMIM:615355NOONAN SYNDROME 8; NS839
HP:0000964HP:0000964Eczema0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000964HP:0000964Eczema0RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndromeHP:0040282 - Frequent15
HP:0000964HP:0000964Eczema0RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome15
HP:0000964HP:0000964Eczema0RRAS2 CL E G H2280017271OMIM:618624NOONAN SYNDROME 12; NS121
HP:0000964HP:0000964Eczema0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0000964HP:0000964Eczema0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040283 - Occasional113
HP:0000964HP:0000964Eczema0SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare26
HP:0000964HP:0000964Eczema0SCNN1A CL E G H633710599ORPHA:171876Generalized pseudohypoaldosteronism type 167
HP:0000964HP:0000964Eczema0SCNN1B CL E G H633810600ORPHA:171876Generalized pseudohypoaldosteronism type 161
HP:0000964HP:0000964Eczema0SCNN1G CL E G H634010602ORPHA:171876Generalized pseudohypoaldosteronism type 157
HP:0000964HP:0000964Eczema0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0000964HP:0000964Eczema0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0000964HP:0000964Eczema0SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type.
HP:0000964HP:0000964Eczema0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000964HP:0000964Eczema0SLC30A2 CL E G H778011013OMIM:608118Zinc deficiency, transient neonatal.3
HP:0000964HP:0000964Eczema0SLC39A7 CL E G H79224927OMIM:619693AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0000964HP:0000964Eczema0SLCO2A1 CL E G H657810955OMIM:167100Hypertrophic osteoarthropathy, primary, autosomal dominant13
HP:0000964HP:0000964Eczema0SLCO2A1 CL E G H657810955OMIM:614441Hypertrophic osteoarthropathy, primary, autosomal recessive 213
HP:0000964HP:0000964Eczema0SLCO2A1 CL E G H657810955ORPHA:2796Pachydermoperiostosis13
HP:0000964HP:0000964Eczema0SMARCA2 CL E G H659511098ORPHA:3051Nicolaides-Baraitser syndromeHP:0040282 - Frequent146
HP:0000964HP:0000964Eczema0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0000964HP:0000964Eczema0SMARCC2 CL E G H660111105OMIM:618362Coffin-Siris syndrome 8HP:0040284 - Very rare1
HP:0000964HP:0000964Eczema0SMG8 CL E G H5518125551OMIM:619268ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000964HP:0000964Eczema0SPINK5 CL E G H1100515464ORPHA:634Netherton syndromeHP:0040281 - Very frequent100
HP:0000964HP:0000964Eczema0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0000964HP:0000964Eczema0SRD5A3 CL E G H7964425812OMIM:612379Congenital disorder of glycosylation, type IQ.80
HP:0000964HP:0000964Eczema0SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare
HP:0000964HP:0000964Eczema0STAT1 CL E G H677211362ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeHP:0040282 - Frequent89
HP:0000964HP:0000964Eczema0STAT1 CL E G H677211362OMIM:614162Immunodeficiency 31CHP:0040283 - Occasional89
HP:0000964HP:0000964Eczema0STAT3 CL E G H677411364OMIM:615952AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1110
HP:0000964HP:0000964Eczema0STAT3 CL E G H677411364ORPHA:2314Autosomal dominant hyper-IgE syndromeHP:0040281 - Very frequent110
HP:0000964HP:0000964Eczema0STAT3 CL E G H677411364OMIM:147060Hyper-IgE recurrent infection syndrome110
HP:0000964HP:0000964Eczema0STAT5B CL E G H677711367OMIM:618985GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID212
HP:0000964HP:0000964Eczema0SUOX CL E G H682111460OMIM:272300SULFOCYSTEINURIA.40
HP:0000964HP:0000964Eczema0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0000964HP:0000964Eczema0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000964HP:0000964Eczema0TBC1D2B CL E G H2310229183ORPHA:397973Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
HP:0000964HP:0000964Eczema0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040284 - Very rare13
HP:0000964HP:0000964Eczema0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0000964HP:0000964Eczema0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0000964HP:0000964Eczema0TGM5 CL E G H933311781ORPHA:263534Acral peeling skin syndromeHP:0040282 - Frequent44
HP:0000964HP:0000964Eczema0TKT CL E G H708611834ORPHA:488618Transketolase deficiency4
HP:0000964HP:0000964Eczema0TMC6 CL E G H1132218021ORPHA:302Epidermodysplasia verruciformis10
HP:0000964HP:0000964Eczema0TMC8 CL E G H14713820474ORPHA:302Epidermodysplasia verruciformis4
HP:0000964HP:0000964Eczema0TNFRSF1B CL E G H713311917ORPHA:2584Classic mycosis fungoidesHP:0040281 - Very frequent
HP:0000964HP:0000964Eczema0TOM1 CL E G H1004311982ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeHP:0040282 - Frequent
HP:0000964HP:0000964Eczema0TOM1 CL E G H1004311982OMIM:619510IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0000964HP:0000964Eczema0TP63 CL E G H862615979OMIM:103285Adult syndrome.140
HP:0000964HP:0000964Eczema0TRAF3IP2 CL E G H107581343OMIM:615527Candidiasis, familial, 84
HP:0000964HP:0000964Eczema0TRAF6 CL E G H718912036ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040283 - Occasional
HP:0000964HP:0000964Eczema0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0000964HP:0000964Eczema0WAS CL E G H745412731OMIM:313900Thrombocytopenia 1.65
HP:0000964HP:0000964Eczema0WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndromeHP:0040283 - Occasional65
HP:0000964HP:0000964Eczema0WAS CL E G H745412731OMIM:301000Wiskott-Aldrich syndrome.65
HP:0000964HP:0000964Eczema0WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndromeHP:0040283 - Occasional6
HP:0000964HP:0000964Eczema0WIPF1 CL E G H745612736OMIM:614493WISKOTT-ALDRICH SYNDROME 2; WAS26
HP:0000964HP:0000964Eczema0ZAP70 CL E G H753512858OMIM:269840SELECTIVE T-CELL DEFECT46
HP:0000964HP:0000964Eczema0ZNF341 CL E G H8490515992OMIM:618282Hyper-Ige recurrent infection syndrome 3, autosomal recessive.1
HP:0000964HP:0000964Eczema0ZNF750 CL E G H7975525843OMIM:610227Seborrhea-Like dermatitis with psoriasiform elements2
HP:0000964HP:0032282Contact dermatitis1 CL E G H
HP:0000964HP:0033564Stasis dermatitis1 CL E G H
HP:0000964HP:0033120Nummular eczema1 CL E G H
HP:0000964HP:0001047Atopic dermatitis1ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0000964HP:0001051Seborrheic dermatitis1ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent1
HP:0000964HP:0001047Atopic dermatitis1BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1.276
HP:0000964HP:0000976Eczematoid dermatitis1BTD CL E G H6861122ORPHA:79241Biotinidase deficiencyHP:0040283 - Occasional223
HP:0000964HP:0001051Seborrheic dermatitis1BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset.223
HP:0000964HP:0001051Seborrheic dermatitis1C5 CL E G H7271331OMIM:609536C5 deficiency16
HP:0000964HP:0001047Atopic dermatitis1CARD11 CL E G H8443316393OMIM:617638Immunodeficiency 11B with atopic dermatitis.45
HP:0000964HP:0001051Seborrheic dermatitis1CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0000964HP:0001047Atopic dermatitis1CDSN CL E G H10411802ORPHA:90368Hypotrichosis simplex of the scalp7
HP:0000964HP:0001047Atopic dermatitis1CFTR CL E G H10801884ORPHA:498359Aquagenic palmoplantar keratodermaHP:0040283 - Occasional1371
HP:0000964HP:0001051Seborrheic dermatitis1CIB1 CL E G H1051916920ORPHA:302Epidermodysplasia verruciformisHP:0040281 - Very frequent
HP:0000964HP:0001051Seborrheic dermatitis1COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent6
HP:0000964HP:0000976Eczematoid dermatitis1CYBA CL E G H15352577OMIM:233690GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE.27
HP:0000964HP:0000976Eczematoid dermatitis1CYBB CL E G H15362578OMIM:306400Chronic granulomatous disease, X-linked.111
HP:0000964HP:0001047Atopic dermatitis1DOCK8 CL E G H8170419191ORPHA:217390Combined immunodeficiency due to DOCK8 deficiencyHP:0040281 - Very frequent217
HP:0000964HP:0001047Atopic dermatitis1DOCK8 CL E G H8170419191OMIM:243700Hyper-Ige recurrent infection syndrome, autosomal recessive.217
HP:0000964HP:0000976Eczematoid dermatitis1FLG CL E G H23123748OMIM:146700ICHTHYOSIS VULGARIS63
HP:0000964HP:0001047Atopic dermatitis1FOXN1 CL E G H845612765OMIM:618806T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND54
HP:0000964HP:0000976Eczematoid dermatitis1FOXP3 CL E G H509436106ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndromeHP:0040282 - Frequent32
HP:0000964HP:0001047Atopic dermatitis1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000964HP:0001051Seborrheic dermatitis1GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent8
HP:0000964HP:0001051Seborrheic dermatitis1HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent3
HP:0000964HP:0011127Perioral eczema1HLCS CL E G H31414976ORPHA:79242Holocarboxylase synthetase deficiencyHP:0040281 - Very frequent148
HP:0000964HP:0001051Seborrheic dermatitis1HPGD CL E G H32485154OMIM:259100Hypertrophic osteoarthropathy, primary, autosomal recessive 1.55
HP:0000964HP:0000976Eczematoid dermatitis1HPGD CL E G H32485154OMIM:259100Hypertrophic osteoarthropathy, primary, autosomal recessive 1.55
HP:0000964HP:0001051Seborrheic dermatitis1HPGD CL E G H32485154ORPHA:2796PachydermoperiostosisHP:0040281 - Very frequent55
HP:0000964HP:0000976Eczematoid dermatitis1HPGD CL E G H32485154ORPHA:2796PachydermoperiostosisHP:0040283 - Occasional55
HP:0000964HP:0001047Atopic dermatitis1HSPA9 CL E G H33135244OMIM:616854Even-Plus syndrome.6
HP:0000964HP:0001047Atopic dermatitis1IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 7.28
HP:0000964HP:0001047Atopic dermatitis1IGHG2 CL E G H35015526ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency1
HP:0000964HP:0001047Atopic dermatitis1IGKC CL E G H35145716ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency5
HP:0000964HP:0001047Atopic dermatitis1IL6R CL E G H35706019OMIM:618944HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES51
HP:0000964HP:0001047Atopic dermatitis1IL6ST CL E G H35726021OMIM:619752HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0000964HP:0001051Seborrheic dermatitis1IL7 CL E G H35746023ORPHA:302Epidermodysplasia verruciformisHP:0040281 - Very frequent
HP:0000964HP:0001047Atopic dermatitis1IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0000964HP:0001047Atopic dermatitis1JAK1 CL E G H37166190OMIM:618999AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE12
HP:0000964HP:0001051Seborrheic dermatitis1JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent2
HP:0000964HP:0001047Atopic dermatitis1KRT1 CL E G H38486412ORPHA:530838KRT1-related diffuse nonepidermolytic keratodermaHP:0040283 - Occasional100
HP:0000964HP:0001047Atopic dermatitis1KRT74 CL E G H12139128929ORPHA:90368Hypotrichosis simplex of the scalp5
HP:0000964HP:0001047Atopic dermatitis1LRRC32 CL E G H26154161OMIM:619074CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0000964HP:0001051Seborrheic dermatitis1MCCC2 CL E G H640876937OMIM:2102103-Methylcrotonyl-CoA carboxylase 2 deficiency.77
HP:0000964HP:0001047Atopic dermatitis1MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040283 - Occasional8
HP:0000964HP:0000976Eczematoid dermatitis1NCF1 CL E G H6533617660OMIM:233700Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I.13
HP:0000964HP:0000976Eczematoid dermatitis1NCF2 CL E G H46887661OMIM:233710Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II.67
HP:0000964HP:0011127Perioral eczema1NCF4 CL E G H46897662OMIM:613960Chronic granulomatous disease 3, autosomal recessive.37
HP:0000964HP:0001047Atopic dermatitis1NEK9 CL E G H9175418591OMIM:614262Arthrogryposis, perthes disease, and upward gaze palsy.9
HP:0000964HP:0001047Atopic dermatitis1PGM3 CL E G H52388907ORPHA:443811PGM3-CDGHP:0040282 - Frequent15
HP:0000964HP:0001051Seborrheic dermatitis1PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 2HP:0040283 - Occasional46
HP:0000964HP:0001051Seborrheic dermatitis1PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0000964HP:0001051Seborrheic dermatitis1PIK3CA CL E G H52908975ORPHA:276280Hemihyperplasia-multiple lipomatosis syndromeHP:0040283 - Occasional162
HP:0000964HP:0001051Seborrheic dermatitis1RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome.10
HP:0000964HP:0001047Atopic dermatitis1RRAS2 CL E G H2280017271OMIM:618624NOONAN SYNDROME 12; NS121
HP:0000964HP:0001051Seborrheic dermatitis1RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0000964HP:0001047Atopic dermatitis1SCNN1A CL E G H633710599ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040283 - Occasional67
HP:0000964HP:0001047Atopic dermatitis1SCNN1B CL E G H633810600ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040283 - Occasional61
HP:0000964HP:0001047Atopic dermatitis1SCNN1G CL E G H634010602ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040283 - Occasional57
HP:0000964HP:0001051Seborrheic dermatitis1SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0000964HP:0001051Seborrheic dermatitis1SLC39A7 CL E G H79224927OMIM:619693AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0000964HP:0000976Eczematoid dermatitis1SLC39A7 CL E G H79224927OMIM:619693AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0000964HP:0001051Seborrheic dermatitis1SLCO2A1 CL E G H657810955OMIM:167100Hypertrophic osteoarthropathy, primary, autosomal dominant13
HP:0000964HP:0001051Seborrheic dermatitis1SLCO2A1 CL E G H657810955OMIM:614441Hypertrophic osteoarthropathy, primary, autosomal recessive 213
HP:0000964HP:0000976Eczematoid dermatitis1SLCO2A1 CL E G H657810955ORPHA:2796PachydermoperiostosisHP:0040283 - Occasional13
HP:0000964HP:0001051Seborrheic dermatitis1SLCO2A1 CL E G H657810955ORPHA:2796PachydermoperiostosisHP:0040281 - Very frequent13
HP:0000964HP:0001047Atopic dermatitis1SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0000964HP:0000976Eczematoid dermatitis1STAT3 CL E G H677411364OMIM:147060Hyper-IgE recurrent infection syndrome110
HP:0000964HP:0001047Atopic dermatitis1TBC1D2B CL E G H2310229183ORPHA:397973Intellectual disability-obesity-prognathism-eye and skin anomalies syndromeHP:0040282 - Frequent
HP:0000964HP:0001051Seborrheic dermatitis1TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent32
HP:0000964HP:0001051Seborrheic dermatitis1TBX1 CL E G H689911592OMIM:188400Digeorge syndrome.32
HP:0000964HP:0001051Seborrheic dermatitis1TKT CL E G H708611834ORPHA:488618Transketolase deficiencyHP:0040283 - Occasional4
HP:0000964HP:0001051Seborrheic dermatitis1TMC6 CL E G H1132218021ORPHA:302Epidermodysplasia verruciformisHP:0040281 - Very frequent10
HP:0000964HP:0001051Seborrheic dermatitis1TMC8 CL E G H14713820474ORPHA:302Epidermodysplasia verruciformisHP:0040281 - Very frequent4
HP:0000964HP:0001051Seborrheic dermatitis1TRAF3IP2 CL E G H107581343OMIM:615527Candidiasis, familial, 8.4
HP:0000964HP:0001051Seborrheic dermatitis1UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0000964HP:0000976Eczematoid dermatitis1ZAP70 CL E G H753512858OMIM:269840SELECTIVE T-CELL DEFECT.46
HP:0000964HP:0001047Atopic dermatitis1ZNF341 CL E G H8490515992OMIM:618282Hyper-Ige recurrent infection syndrome 3, autosomal recessive.1
HP:0000964HP:0001051Seborrheic dermatitis1ZNF750 CL E G H7975525843OMIM:610227Seborrhea-Like dermatitis with psoriasiform elements.2
HP:0000964HP:0007573Late onset atopic dermatitis2 CL E G H
HP:0000964HP:0007569Generalized seborrheic dermatitis2C5 CL E G H7271331OMIM:609536C5 deficiency.16


Genes (161) :AARS1 ABCC9 ADA2 ARVCF AUTS2 BRAF BTD C5 CAMK2B CARD11 CARD14 CARMIL2 CARS1 CASP8 CASR CD28 CD3G CDSN CFTR CIB1 COMT CST6 CSTA CTLA4 CYBA CYBB CYBC1 DDX41 DHCR7 DNAJC21 DOCK8 EDA EDAR EDARADD EFL1 ERCC2 ERCC3 FECH FLG FLI1 FOCAD FOXN1 FOXP3 GINS1 GNA11 GNB2 GP1BB GTF2E2 GTF2H5 H3-3B HDAC4 HIRA HLA-DQA1 HLA-DQB1 HLA-DRB1 HLCS HPGD HSPA9 IFIH1 IGHG2 IGKC IL17RA IL2RA IL4R IL6R IL6ST IL7 IL7R IPO8 JAK1 JMJD1C KANSL1 KDF1 KRT1 KRT74 LBR LGI3 LIG1 LIG4 LRRC32 MBTPS2 MCCC2 MORC2 MPDU1 MPLKIP MS4A2 MSN MTHFD1 MYSM1 NAA10 NBEA NCF1 NCF2 NCF4 NEK9 NOD2 NSMCE3 NSUN2 NUP107 PAH PCCA PCCB PEPD PGM3 PIGA PIK3CA PIK3CG PLA2G7 POLE PRMT7 RAC1 RBCK1 RBM8A RIT1 RNF113A RNU4ATAC RRAS2 RREB1 RTTN SBDS SCNN1A SCNN1B SCNN1G SEC24C SHOC2 SIK3 SIN3A SLC30A2 SLC39A7 SLCO2A1 SMARCA2 SMARCC2 SMG8 SPINK5 SRCAP SRD5A3 SRP54 STAT1 STAT3 STAT5B SUOX TAF1 TARS1 TBC1D2B TBCK TBX1 TGM5 TKT TMC6 TMC8 TNFRSF1B TOM1 TP63 TRAF3IP2 TRAF6 UFD1 WAS WIPF1 ZAP70 ZNF341 ZNF750

Diseases (153) :OMIM:619691 OMIM:619719 OMIM:615688 ORPHA:567 ORPHA:352490 OMIM:115150 ORPHA:79241 OMIM:253260 OMIM:609536 OMIM:617799 OMIM:617638 ORPHA:2897 OMIM:618131 ORPHA:33364 OMIM:607271 ORPHA:428 ORPHA:2584 OMIM:615607 ORPHA:90368 ORPHA:498359 ORPHA:302 OMIM:618535 ORPHA:263534 OMIM:616100 ORPHA:379 OMIM:233690 OMIM:306400 OMIM:618935 OMIM:616871 OMIM:270400 OMIM:617052 ORPHA:811 ORPHA:217390 OMIM:243700 OMIM:305100 ORPHA:1810 ORPHA:79278 OMIM:177000 OMIM:146700 OMIM:617443 ORPHA:2308 OMIM:619991 OMIM:618806 ORPHA:37042 OMIM:304790 OMIM:617827 OMIM:619503 OMIM:619721 ORPHA:1001 OMIM:600430 OMIM:212750 ORPHA:703 ORPHA:79242 ORPHA:1525 OMIM:259100 ORPHA:2796 OMIM:616854 OMIM:615846 ORPHA:183675 OMIM:613953 OMIM:606367 OMIM:147050 OMIM:618944 OMIM:619752 OMIM:618523 OMIM:619751 OMIM:608971 OMIM:619472 OMIM:618999 ORPHA:363958 OMIM:610443 ORPHA:363965 ORPHA:530838 OMIM:169400 OMIM:620007 OMIM:619774 ORPHA:235 OMIM:619074 ORPHA:2273 OMIM:210210 ORPHA:466768 ORPHA:79323 OMIM:300988 OMIM:617780 OMIM:618116 ORPHA:508542 OMIM:300855 OMIM:619157 OMIM:233700 OMIM:233710 OMIM:613960 OMIM:614262 OMIM:186580 OMIM:617241 OMIM:611091 OMIM:618348 ORPHA:79254 OMIM:606054 OMIM:170100 OMIM:615816 ORPHA:443811 OMIM:300868 OMIM:301072 ORPHA:276280 OMIM:619802 OMIM:618336 ORPHA:464288 OMIM:617751 ORPHA:500159 OMIM:615895 OMIM:274000 OMIM:615355 ORPHA:353298 OMIM:616651 OMIM:618624 ORPHA:468631 ORPHA:171876 OMIM:607721 OMIM:618162 OMIM:613406 OMIM:608118 OMIM:619693 OMIM:167100 OMIM:614441 ORPHA:3051 OMIM:601358 OMIM:618362 OMIM:619268 ORPHA:634 OMIM:136140 OMIM:612379 ORPHA:391487 OMIM:614162 OMIM:615952 ORPHA:2314 OMIM:147060 OMIM:618985 OMIM:272300 OMIM:300966 ORPHA:397973 ORPHA:488632 OMIM:188400 ORPHA:488618 OMIM:619510 OMIM:103285 OMIM:615527 OMIM:313900 ORPHA:906 OMIM:301000 OMIM:614493 OMIM:269840 OMIM:618282 OMIM:610227
 

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