Monarch Phenotypes

Explore Phenotypes

Monarch Phenotype integrates information from a variety of sources. Each specific page includes descriptions, diseases, curated and inferred genes whose mutations lead to the given phenotype, animal models, pathways, aggregated literature and external links to relevant resources. Here we summarizes the curated phenotype data in the system.

Phenotype Spotlight: Abnormality of hair pigmentation

Genes: a, a, a, a, Adam17, [and 268 more...]Adamts20, Alm, ao, ap, Ap3b1, Ap3d1, Aph1c, Arpc2, Atp7a, Atp7b, Atr, Atrn, baln2, Barx2, baw, BAZ1B, Bcl2, Bloc1s4, Bloc1s5, Bloc1s6, brwd, Bswt, bt2, Chic2, chtl, CLIP2, Crm, CTC1, CTNND2, Cux1, Cyb561, Cyp19a1, D430041D05Rik, Dct, din, dj, DKC1, Dkd, DLG4, Dlp1, Dlp2, Dlp3, Dmyaq1, Dmyaq2, Dmyaq3, Dock7, Dtnbp1, DTNBP1, Dwh, Eda, Edaradd, Edn3, EDN3, Ednrb, EDNRB, Eif3c, ELN, Elovl3, Endog, fe, Fig4, Fk, Frem2, Ga, Gata3, gdn, ge, Ggt1, Ggt5, Gli3, Gn, Gpc3, gr, gt, Gt(ROSA)26Sor, GTF2I, Gtf2ird1, GTF2IRD1, HPS1, Hps1, HPS3, Hps3, HPS4, Hps5, HPS5, Hps6, HPS6, hubb, IFNG, Igfbp3, In(D4Mit117;D4Mit281)1Brd, In(D4Mit281;D4Mit51)2Brd, Irs2, Kit, Kitl, Krt14, L1cam, l4Jus12, Lama4, lgr, LIMK1, Lmx1a, Lyst, Mbtps1, Mc1r, Mcm2, Mcoln3, Mfs, Mgrn1, Mhdaali19, Mhdaali20, Mhdawbs1, Mhdawbs5, Mitf, MITF, MLXIPL, Mpv17, Mpzl3, Mreg, Mreg, Myc, Myo5a, Mysm1, NHP2, NOP10, Notch1, Notch2, Ntrk1, OCA2, Oca2, Ostm1, Pax1, PAX3, Pax3, Pax6, Pcbd1, Pde3b, PDE4D, Per2, Ph, Pmel, Pomc, Ppp1r32, Ppp5c, PRF1, Primpol, PRKAR1A, Prodh, Ptch1, Pts, pwk, Rab27a, Rab27a, Rag1, Rbpj, rdp, Reph8, RFC2, Rgsc117, Rgsc1175, Rgsc1246, Rgsc1461, Rgsc1513, Rgsc1520, Rgsc1545, Rgsc1554, Rgsc1658, Rgsc1742, rgsc1820, Rgsc1843, Rgsc1855, rgsc1904, Rgsc212, Rgsc257, Rgsc269, Rgsc288, Rgsc396, Rgsc547, Rgsc58, Rgsc71, Rgsc713, Rgsc767, Rgsc779, Rgsc780, Rgsc796, Rgsc798, rgsc80, Rgsc803, rhg, Rlbp1, Rln3, ro, Rpl24, Rpl38, Rps7, rslk, RTEL1, ru2l, SBDS, SEMA5A, Shmu, skc9, Slc45a2, SLC45A2, Sls, Smc3, Smoc1, SNAI2, Snai2, SOX10, Sox10, Sox18, Sparc, Src, Srsf4, Sta2, Sta3, stn, Stol, Strx2, Strx3, Strx4, TBL2, Tbx10, Tbx15, TERC, TERT, Tfap2a, Tfe3, Tfec, TINF2, Tlr4, tmgc14, tmgc17, Tmgc18, Tmgc19, Tmgc21, tp, Trappc6a, Trp53, Tyr, TYR, Tyrp1, TYRP1, UBR1, Uqcrfs1, USB1, Vac14, Vps33a, vs, Vss, wam, WBSCR16, Wc, wn, Wnt10a, WRAP53, wuf, Xls, Xmo2, Xmo3, Xmo4, Xmo5, Xmo6, Zbtb17, Zdhhc21, Zeb1, Zic2 [hide]
Diseases: Abcd Syndrome, Acquired Hypertrichosis Lanuginosa, Acrodysostosis 2 With Or Without Hormone Resistance, Adult Syndrome, Aland Island Eye Disease, [and 141 more...]Albinism, Ocular, With Late-Onset Sensorineural Deafness, Albinism, Oculocutaneous, Type Ia, Albinism, Oculocutaneous, Type Ib, Albinism, Oculocutaneous, Type Ii, Albinism, Oculocutaneous, Type Iii, Albinism, Oculocutaneous, Type Iv, Albinism-Deafness Syndrome, Angelman Syndrome, Aniridia - Ptosis - Intellectual Disability - Familial Obesity, Ataxia-Telangiectasia, Autosomal Recessive Cerebelloparenchymal Disorder Type 3, Autosomal Recessive Facio-Digito-Genital Syndrome, Bird Headed-Dwarfism, Montreal Type, Book Syndrome, Branchio-Oculo-Facial Syndrome, Branchiooculofacial Syndrome, Brittle Cornea Syndrome 1, Böök Syndrome, Carney Complex, Type 1, Cartilage-Hair Hypoplasia, Chediak-Higashi Syndrome, Chromosome 9p Deletion Syndrome, Chédiak-Higashi Syndrome, Classical Phenylketonuria, Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome, Cri-Du-Chat Syndrome, Cystinosis, Nephropathic, Deaf Blind Hypopigmentation Syndrome, Yemenite Type, Deafness - White Hair - Contractures - Papillomas, Deafness, Congenital, With Total Albinism, Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma, Dilution, Pigmentary, Dyskeratosis Congenita, Dyskeratosis Congenita, Autosomal Dominant, 1, Dyskeratosis Congenita, Autosomal Dominant, 2, Dyskeratosis Congenita, Autosomal Dominant, 3, Dyskeratosis Congenita, X-Linked, Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type, Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1, Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3, Ehlers-Danlos Syndrome, Type V, Elejalde Disease, Ermine Phenotype, Ermine Phenotype, Graying Of Hair, Precocious, Griscelli Disease, Griscelli Disease Type 1, Griscelli Disease Type 2, Griscelli Disease Type 3, Griscelli Syndrome, Type 1, Griscelli Syndrome, Type 2, Griscelli Syndrome, Type 3, Heart Defect - Round Face - Congenital Developmental Delay, Hemifacial Atrophy, Progressive, Hermansky-Pudlak Syndrome, Hermansky-Pudlak Syndrome 1, Hermansky-Pudlak Syndrome 2, Hermansky-Pudlak Syndrome 4, Hermansky-Pudlak Syndrome 5, Hermansky-Pudlak Syndrome 6, Hermansky-Pudlak Syndrome 7, Hermansky-Pudlak Syndrome 8, Hoyeraal-Hreidarsson Syndrome, Hypohidrotic Ectodermal Dysplasia, Hypotrichosis 8, Infantile Sialic Acid Storage Disease, Johanson-Blizzard Syndrome, Koolen-De Vries Syndrome, Koolen-De Vries Syndrome, Lipodystrophy Due To Peptidic Growth Factors Deficiency, Loose Anagen Hair Syndrome, Menkes Disease, Mental Retardation, Buenos Aires Type, Methionine Malabsorption Syndrome, Microcephalic Primordial Dwarfism, Montreal Type, Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism, Neuroectodermal Melanolysosomal Disease, Neurologic Waardenburg-Shah Syndrome, Oculocerebral Hypopigmentation Syndrome, Cross Type, Oculocerebral Hypopigmentation Syndrome, Preus Type, Oculocerebral Syndrome With Hypopigmentation, Oculocutaneous Albinism, Oculocutaneous Albinism Type 1a, Oculocutaneous Albinism Type 1b, Oculocutaneous Albinism Type 2, Oculocutaneous Albinism Type 4, Oculoosteocutaneous Syndrome, Osteopathia Striata - Pigmentary Dermopathy - White Forelock, Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease, Phenylketonuria, Piebald Trait, Piebald Trait - Neurologic Defects, Piebald Trait With Neurologic Defects, Piebaldism, Prader-Willi Syndrome, Primary Immunodeficiency Syndrome Due To P14 Deficiency, Prolidase Deficiency, Proopiomelanocortin Deficiency, Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1, Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2, Retinal Ischemic Syndrome - Digestive Tract Small Vessel Hyalinosis - Diffuse Cerebral Calcifications, Rothmund-Thomson Syndrome, Rothmund-Thomson Syndrome, Sc Phocomelia Syndrome, Sensorineural Hearing Loss - Early Graying - Essential Tremor, Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency, Skin/Hair/Eye Pigmentation, Variation In, 11, Skin/Hair/Eye Pigmentation, Variation In, 2, Smith-Lemli-Opitz Syndrome, Spastic Paraplegia 23, Tietz Syndrome, Tietz Syndrome, Tremor Of Intention, Ataxia, And Lipofuscinosis, Trichodermal Syndrome - Intellectual Disability, Uncombable Hair Syndrome, Urocanase Deficiency, Vascular Hyalinosis, Vici Syndrome, Vici Syndrome, Vogt-Koyanagi-Harada Disease, Waardenburg Syndrome, Waardenburg Syndrome Type 1, Waardenburg Syndrome Type 2, Waardenburg Syndrome Type 3, Waardenburg Syndrome, Type 1, Waardenburg Syndrome, Type 2a, Waardenburg Syndrome, Type 2b, Waardenburg Syndrome, Type 2e, Waardenburg Syndrome, Type 3, Waardenburg Syndrome, Type 4a, Waardenburg Syndrome, Type 4b, Waardenburg Syndrome, Type 4c, Waardenburg-Shah Syndrome, Weaver-Like Syndrome, Werner Syndrome, White Forelock With Malformations, White Forelock With Malformations, Williams-Beuren Syndrome, Woolly Hair, Woolly Hair - Hypotrichosis - Everted Lower Lip - Outstanding Ears, X-Linked Intellectual Disability, Wittwer Type [hide]
Models: 1059
Publications: 168

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This interactive graph displays the number of phenotype associations for genes per major phenotypic category. You can explore the distribution of more specific phenotypes by clicking on the Y axis labels, or visit the phenotype page itself by clicking on the corresponding bar. You can navigate back to less-specific phenotypes by clicking on the breadcrumbs listed in the top left-hand corner. Organisms can be added and removed from the graph by clicking on the legend labels.

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Explore Phenotypes

Phenotype Spotlight: Abnormality of hair pigmentation