Griscelli Syndrome, Type 3 |
|
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft |
OMIM:609227 |
Neurofibromatosis Type 6 |
|
Freckling, Multiple cafe-au-lait spots |
ORPHA:2678 |
Dyschromatosis Universalis Hereditaria 1 |
|
Hyperpigmented/hypopigmented macules |
OMIM:127500 |
Dowling-Degos Disease 3 |
|
Hyperpigmented/hypopigmented macules |
OMIM:615674 |
Dyschromatosis Symmetrica Hereditaria |
|
Hyperpigmented/hypopigmented macules |
OMIM:127400 |
Mediosternal Depigmentation Line |
|
Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
Cafe-Au-Lait Spots, Multiple |
|
Multiple cafe-au-lait spots |
OMIM:114030 |
Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
Lentiginosis, Inherited Patterned |
|
Hypermelanotic macule |
OMIM:151001 |
Hairy Palms And Soles |
|
Hypermelanotic macule |
OMIM:139650 |
Dowling-Degos Disease 1 |
|
Progressive reticulate hyperpigmentation |
OMIM:179850 |
Hyperpigmentation Of Fuldauer And Kuijpers |
|
Hyperpigmentation of the skin |
OMIM:145200 |
Acroleukopathy, Symmetric |
|
Symmetric great toe depigmentation |
OMIM:102000 |
Hyperpigmentation, Familial Progressive, 1 |
|
Hyperpigmentation of the skin |
OMIM:614233 |
Nasal Hyperpigmentation, Familial Transverse |
|
Hyperpigmentation of the skin |
OMIM:161530 |
Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... |
ORPHA:42665 |
Dilution, Pigmentary |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:126070 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... |
OMIM:214450 |
Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism |
ORPHA:79478 |
Nevus, Epidermal |
|
Melanocytic nevus |
OMIM:162900 |
Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect |
|
Hyperpigmentation of the skin |
OMIM:202355 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Uv-Sensitive Syndrome 2 |
|
Freckling |
OMIM:614621 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... |
OMIM:619947 |
Dyschromatosis Universalis Hereditaria |
|
Spotty hypopigmentation, Hypopigmented skin patches, Freckling, Multiple cafe-au-lait spots, Hype... |
ORPHA:241 |
Diamond-Blackfan Anemia 17 |
|
Hyperpigmentation of the skin |
OMIM:617409 |
Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Sparse body hair, Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Alopecia of scalp, ... |
OMIM:617294 |
Congenital Disorder Of Glycosylation, Type I/Iix |
|
Abnormality of skin pigmentation |
OMIM:212067 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Book Syndrome |
|
Premature graying of hair |
OMIM:112300 |
Tietz Albinism-Deafness Syndrome |
|
Generalized hypopigmentation, White eyelashes, White eyebrow, Heterochromia iridis, Blue irides |
OMIM:103500 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Irregular hyperpigmentation, Melanocytic nevus, Hypopigmented skin patches |
ORPHA:2435 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Dowling-Degos Disease 2 |
|
Hypomelanotic macule, Reticular hyperpigmentation |
OMIM:615327 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Heterochromia iridis, Premature graying of hair |
OMIM:600193 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Glucocorticoid Deficiency 3 |
|
Hyperpigmentation of the skin |
OMIM:609197 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Cafe-au-lait spot, Multiple lentigines, Hypopigmented skin patches, Progressive hyperpigmentation... |
OMIM:145250 |
Albinism-Deafness Syndrome |
|
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Heterochromia iridis, Partia... |
ORPHA:998 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect |
OMIM:619165 |
Uncombable Hair Syndrome |
|
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology |
ORPHA:1410 |
Albinism-Deafness Syndrome |
|
Albinism, Partial albinism, Patchy hypo- and hyperpigmentation, Piebaldism |
OMIM:300700 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome |
|
Hyperpigmentation of the skin, Hypopigmented skin patches |
ORPHA:2819 |
Waardenburg Syndrome, Type 4B |
|
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:613265 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation |
OMIM:300719 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Pseudopili Annulati |
|
Abnormality of hair texture, Abnormality of the scalp hair |
OMIM:613241 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... |
OMIM:607624 |
Anonychia With Flexural Pigmentation |
|
Anonychia, Axillary and groin hyperpigmentation and hypopigmentation |
OMIM:106750 |
Thumb Deformity And Alopecia |
|
Alopecia, Increased groin pigmentation with raindrop depigmentation |
OMIM:188150 |
Oculocutaneous Albinism Type 3 |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... |
ORPHA:79433 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:2513 |
Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Albinism, White eyelashes, Synophrys, White eyebrow, Numerous pigmente... |
OMIM:193510 |
Drug-Induced Localized Lipodystrophy |
|
Hyperpigmentation of the skin, Hypopigmentation of the skin |
ORPHA:90157 |
Albinism, Oculocutaneous, Type Vi |
|
Fair hair, Generalized hypopigmentation |
OMIM:113750 |
Ermine Phenotype |
|
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo |
OMIM:227010 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Mottled pigmentation, Alopecia, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigment... |
ORPHA:79397 |
Oocyte/Zygote/Embryo Maturation Arrest 16 |
|
Infertility |
OMIM:617234 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... |
OMIM:203200 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Irregular hyperpigmentation, Multiple cafe-au-lait spots |
ORPHA:1336 |
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation |
|
Mottled pigmentation of the trunk and proximal extremities, Discrete 2 to 5-mm hyper- and hypopig... |
OMIM:131960 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Macular hyperpigmented dermopathy, White forelock |
ORPHA:2779 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... |
OMIM:172800 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Erythrokeratoderma ''En Cocardes'' |
|
Abnormality of skin pigmentation |
ORPHA:315 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... |
OMIM:256710 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Premature graying of hair |
OMIM:190200 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Alopecia of scalp, Abnormal hair morph... |
ORPHA:69125 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Dystrophic toenail, Hypopigmentation of the skin, Absent toenail, Abnormal fingernail morphology,... |
ORPHA:89838 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles |
OMIM:601706 |
Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation |
OMIM:237450 |
Hypertrichosis Lanuginosa Congenita |
|
Thick eyebrow, Abnormality of skin pigmentation, Generalized hirsutism |
ORPHA:2222 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Hypopigmentation of the skin |
OMIM:610798 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment... |
ORPHA:2885 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Spotty hyperpigmentation,... |
ORPHA:79399 |
Alopecia, Congenital |
|
Alopecia, Sparse hair |
OMIM:300042 |
Waardenburg Syndrome Type 2 |
|
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... |
ORPHA:895 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Waardenburg Syndrome, Type 4A |
|
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:277580 |
Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... |
ORPHA:79435 |
Gemignani Syndrome |
|
Hypopigmented skin patches |
ORPHA:2074 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Bullous Dystrophy, Hereditary Macular Type |
|
Hyperpigmentation of the skin, Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
Griscelli Syndrome Type 1 |
|
Iris hypopigmentation, Partial albinism, White hair, Premature graying of hair |
ORPHA:79476 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Woolly Hair |
|
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... |
ORPHA:170 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... |
ORPHA:33445 |
Hidrotic Ectodermal Dysplasia |
|
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... |
ORPHA:189 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 |
|
Vitiligo |
OMIM:193200 |
Retinitis Pigmentosa 35 |
|
Abnormality of skin pigmentation |
OMIM:610282 |
Hypotrichosis 8 |
|
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... |
OMIM:278150 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:177910 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Fingernail dysplasia, Hypopigmented skin patches, Onychogryposis of fingernail, Hyperpi... |
ORPHA:2251 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Cafe-au-lait spot |
ORPHA:436151 |
Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... |
ORPHA:79432 |
White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... |
ORPHA:79434 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Focal Facial Dermal Dysplasia Type I |
|
Sparse lateral eyebrow, Absent eyelashes, Spotty hypopigmentation, Spotty hyperpigmentation, Dist... |
ORPHA:79133 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Hyperpigmented streaks |
OMIM:614323 |
Glucocorticoid Deficiency 5 |
|
Hyperpigmentation of the skin |
OMIM:617825 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Premature graying of hair, Hypopigmented skin pat... |
ORPHA:3437 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
Vitiligo |
OMIM:606579 |
Oculocutaneous Albinism |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... |
ORPHA:55 |
Uv-Sensitive Syndrome 1 |
|
Freckling, Pigmentation anomalies of sun-exposed skin |
OMIM:600630 |
Xeroderma Pigmentosum Variant |
|
Freckles in sun-exposed areas, Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90342 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Trichorrhexis nodosa, Curly hair, Fine hair, Sparse eyelashes, Sparse hair |
OMIM:616760 |
Uv-Sensitive Syndrome 3 |
|
Freckling |
OMIM:614640 |
Epidermolysis Bullosa Acquisita |
|
Hyperpigmentation of the skin, Abnormal hair morphology, Nail dystrophy |
ORPHA:46487 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Irregular hyperpigmentation, Abnormal eyebrow morphology, Generalized hirsutism, Generalized hypo... |
ORPHA:1816 |
Uncombable Hair Syndrome 3 |
|
Pili canaliculi, Curly hair, Uncombable hair, Brittle hair |
OMIM:617252 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... |
ORPHA:79414 |
Idiopathic Localized Lipodystrophy |
|
Hyperpigmentation of the skin, Hypopigmentation of the skin |
ORPHA:90158 |
Spermatogenic Failure 21 |
|
Infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617644 |
Hermansky-Pudlak Syndrome 3 |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
Asherman Syndrome |
|
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... |
ORPHA:137686 |
Oculocutaneous Albinism Type 1 |
|
Generalized hypopigmentation, Generalized hypopigmentation of hair, Iris transillumination defect... |
ORPHA:352731 |
Porphyria Cutanea Tarda, Type I |
|
Hyperpigmentation of the skin, Hypertrichosis |
OMIM:176090 |
Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism |
OMIM:614171 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... |
ORPHA:79431 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Hypopigmented skin patches |
ORPHA:3239 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Generalized hypopigmentation, Spotty hyperpigmentation, Hyperpigmentation of the skin, Nail dystr... |
ORPHA:158681 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Sparse body hair, Abnormality of skin pigmentation, Scarring alopecia of scalp, Anonychia, Nail d... |
ORPHA:79402 |
Piebaldism |
|
Piebaldism, White eyelashes, Synophrys, White eyebrow, Hypopigmented skin patches, White forelock... |
ORPHA:2884 |
Autoimmune Disease, Susceptibility To, 1 |
|
Vitiligo |
OMIM:607836 |
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Melanocytic nevus, Pili torti, Brittle hair, Fine hair, Freckling |
ORPHA:1573 |
Waardenburg Syndrome, Type 3 |
|
Premature graying of hair, Synophrys, Hypopigmented skin patches, White forelock, Heterochromia i... |
OMIM:148820 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Heterochromia iridis, Premature graying of hair |
ORPHA:66633 |
Uncombable Hair Syndrome 1 |
|
Dry hair, Pili canaliculi, Uncombable hair |
OMIM:191480 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:411515 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Sparse eyebrow, Alopecia, Leukonychia, Brittle hair, Nail dysplasia, Hyperpigmentation of the ski... |
OMIM:104100 |
Ermine Phenotype |
|
Irregular hyperpigmentation, Ocular albinism, Iris hypopigmentation, Hypopigmented skin patches, ... |
ORPHA:999 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Hypopigmentation of the skin, Abnormality of hair texture, Nail dystrophy, Nail dysplasia |
OMIM:601957 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Spermatogenic Failure 12 |
|
Infertility, Azoospermia |
OMIM:615413 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Infertility, Hirsutism, Oligomenorrhea |
OMIM:604931 |
Waardenburg Syndrome, Type 4C |
|
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:613266 |
Idiopathic Trachyonychia |
|
Toenail dysplasia, Fingernail dysplasia, Nail pits, Thin nail, Circumungual hyperkeratosis, Ridge... |
ORPHA:79153 |
Phenylketonuria |
|
Fair hair, Blue irides, Generalized hypopigmentation |
OMIM:261600 |
Albinism, Oculocutaneous, Type Ia |
|
Ocular albinism, Albinism, Hypopigmentation of hair, White hair, Blue irides, Absent skin pigment... |
OMIM:203100 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Sparse eyebrow, Nail dysplasia, Abnormality of skin pigmentation, Sparse scalp hair |
OMIM:225050 |
Darier Disease |
|
Abnormality of skin pigmentation, Abnormality of the nail, Abnormal hair morphology, Hypermelanot... |
ORPHA:218 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... |
OMIM:203300 |
Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair |
ORPHA:79477 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Premature graying of hair, Synophrys, White eyelashes, White eyebrow... |
ORPHA:897 |
Waardenburg Syndrome Type 1 |
|
Premature graying of hair, White eyelashes, Synophrys, White eyebrow, Hypopigmented skin patches,... |
ORPHA:894 |
Lichen Planus Pemphigoides |
|
Hypopigmented streaks, Abnormality of the nail |
ORPHA:254478 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse body hair, Abnormality of skin pigmentation, Sparse hair, Abnormal fingernail morphology |
ORPHA:1810 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Sparse axillary hair, Infertility, Sparse pubic hair, Primary amenorrhea, Hypogonadotropic hypogo... |
OMIM:146110 |
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Freckling, Hypoplastic toenails |
ORPHA:1547 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lateral eyebrow, Hypopigmented skin patches, Multiple cafe-au-lait spots, Abnormal hair pa... |
ORPHA:1807 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow, Sparse hair |
ORPHA:261304 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot |
OMIM:618541 |
Sea-Blue Histiocytosis |
|
Hyperpigmentation of the skin, Hypopigmentation of the skin |
ORPHA:158029 |
Clouston Syndrome |
|
Alopecia, Sparse eyebrow, Small nail, Brittle hair, Alopecia totalis, Fine hair, Onycholysis, Nai... |
OMIM:129500 |
Glucocorticoid Deficiency 2 |
|
Hyperpigmentation of the skin |
OMIM:607398 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Dystrophic toenail, Hypopigmentation of the skin, Malalignment of the great toenail, Decreased nu... |
ORPHA:69087 |
Spastic Paraplegia 23, Autosomal Recessive |
|
Vitiligo, Premature graying of body hair, Hyperpigmentation in sun-exposed areas, Multiple lentig... |
OMIM:270750 |
Large Congenital Melanocytic Nevus |
|
Abnormality of skin pigmentation, Generalized hirsutism, Congenital giant melanocytic nevus, Hypo... |
ORPHA:626 |
Methionine Malabsorption Syndrome |
|
White hair, Blue irides |
OMIM:250900 |
Attenuated Chédiak-Higashi Syndrome |
|
Generalized hypopigmentation, Ocular albinism |
ORPHA:352723 |
Alazami-Yuan Syndrome |
|
Hyperactivity, Synophrys, Long eyelashes, Hirsutism, Thick eyebrow, Highly arched eyebrow, Low an... |
OMIM:617126 |
Infantile Sialic Acid Storage Disease |
|
Fair hair, Hypopigmentation of the skin |
OMIM:269920 |
Chronic Actinic Dermatitis |
|
Hypopigmented skin patches, Progressive hyperpigmentation |
ORPHA:330064 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Hypopigmented skin patches, Hypopigmentation of hair, Freckling, Multiple ... |
ORPHA:3214 |
Maternal Uniparental Disomy Of Chromosome X |
|
Hypopigmentation of the skin, Low posterior hairline |
ORPHA:261519 |
Classic Mycosis Fungoides |
|
Alopecia, Irregular hyperpigmentation, Abnormality of the nail, Hypopigmented skin patches |
ORPHA:2584 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Lichen Planopilaris |
|
Abnormal fingernail morphology, Alopecia, Onycholysis, Hypopigmented skin patches |
ORPHA:525 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98795 |
Menkes Disease |
|
Alopecia, Hypopigmentation of the skin, Sparse hair, Brittle hair |
OMIM:309400 |
Albinism, Ocular, Type I |
|
Giant melanosomes in melanocytes, Ocular albinism |
OMIM:300500 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Deafness, Congenital, With Vitiligo And Achalasia |
|
Vitiligo |
OMIM:221350 |
Waardenburg Syndrome, Type 2E |
|
Cafe-au-lait spot, Premature graying of hair, Ocular albinism, White eyelashes, Iris hypopigmenta... |
OMIM:611584 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Freckling, Alopecia of scalp, Hypermelanotic macule, Hypomelanotic macule, Nail dystrophy |
OMIM:618373 |
Limited Cutaneous Systemic Sclerosis |
|
Abnormality of skin pigmentation, Hypopigmented skin patches |
ORPHA:220402 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Phakomatosis Pigmentovascularis |
|
Generalized hyperpigmentation, Hypopigmented skin patches |
ORPHA:2875 |
Localized Epidermolysis Bullosa Simplex |
|
Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin |
ORPHA:79400 |
Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia, Hypopigmented skin patches |
ORPHA:3143 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Spotty hypopigmentation, Congenital abnormal hair pattern, Hyperpigmentation of the ski... |
ORPHA:1867 |
Developmental And Epileptic Encephalopathy 43 |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Hermansky-Pudlak Syndrome 6 |
|
Albinism, Hypopigmentation of the skin, Ocular albinism |
OMIM:614075 |
Al-Raqad Syndrome |
|
Hypopigmentation of the skin |
OMIM:616459 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Profuse pigmented skin lesions |
ORPHA:280785 |
Porokeratosis |
|
Abnormality of skin pigmentation |
ORPHA:79358 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hypopigmentation of the skin |
OMIM:615980 |
Waardenburg Syndrome |
|
Abnormality of skin pigmentation, Abnormal eyebrow morphology, Premature graying of hair, Synophr... |
ORPHA:3440 |
Carney Complex, Type 1 |
|
Profuse pigmented skin lesions, Multiple lentigines, Freckling, Hirsutism, Red hair |
OMIM:160980 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Hypopigmented skin patches |
ORPHA:1825 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Abnormality of skin pigmentation, Nail dystrophy |
OMIM:613988 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Premature graying of hair, Iris hypopigmentation, Hypopigmented skin... |
ORPHA:381 |
Familial Cutaneous Collagenoma |
|
Abnormality of skin pigmentation |
ORPHA:53296 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Abnormality of skin pigmentation |
ORPHA:745 |
Angelman Syndrome Due To A Point Mutation |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:411511 |
Autosomal Recessive Spastic Paraplegia Type 23 |
|
Silver-gray hair, Vitiligo, Multiple lentigines |
ORPHA:101003 |
Waardenburg Syndrome, Type 1 |
|
Premature graying of hair, White eyelashes, Synophrys, White eyebrow, Thick eyebrow, White forelo... |
OMIM:193500 |
Bazex Syndrome |
|
Trichorrhexis nodosa, Pili torti, Coarse hair, Trichoepithelioma, Hyperpigmentation of the skin, ... |
OMIM:301845 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:251270 |
Epidermodysplasia Verruciformis |
|
Multiple cafe-au-lait spots, Hypopigmented skin patches |
ORPHA:302 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Infertility, Hypogonadism |
OMIM:240950 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches |
ORPHA:53271 |
Cronkhite-Canada Syndrome |
|
Sparse body hair, Alopecia, Dystrophic toenail, Abnormality of skin pigmentation, Aplasia/Hypopla... |
ORPHA:2930 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Abnormality of skin pigmentation, Sparse hair, Nail dystrophy |
OMIM:616353 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility |
OMIM:264110 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Iris hypopigmentation, White hair, Generalized hypopigmentation, Ocular albinism |
ORPHA:2720 |
Lelis Syndrome |
|
Sparse lateral eyebrow, Yellow nails, Absent lower eyelashes, Perioral hyperpigmentation, Abnorma... |
ORPHA:140936 |
Hypomelanosis Of Ito |
|
Alopecia, Macular hypopigmented whorls, streaks, and patches |
OMIM:300337 |
X-Linked Recessive Ocular Albinism |
|
Giant melanosomes in melanocytes, Iris hypopigmentation, Freckling, Ocular albinism |
ORPHA:54 |
Hermansky-Pudlak Syndrome 11 |
|
Melanocytic nevus, Iris transillumination defect, Ocular albinism, Albinism, Fair hair |
OMIM:619172 |
Dowling-Degos Disease |
|
Progressive reticulate hyperpigmentation, Mixed hypo- and hyperpigmentation of the skin, Abnormal... |
ORPHA:79145 |
Hermansky-Pudlak Syndrome 8 |
|
Generalized hypopigmentation, Ocular albinism, Albinism, Iris transillumination defect, Silver-gr... |
OMIM:614077 |
Xeroderma Pigmentosum, Complementation Group C |
|
Hypopigmentation of the skin, Freckling |
OMIM:278720 |
Chediak-Higashi Syndrome |
|
Giant melanosomes in melanocytes, Hypopigmentation of the skin, Ocular albinism, Iris hypopigment... |
OMIM:214500 |
Acquired Hypertrichosis Lanuginosa |
|
Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Angelman Syndrome |
|
Fair hair, Hypopigmentation of the skin, Blue irides |
OMIM:105830 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Hyperpigmentation of the skin |
OMIM:613743 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Abnormality of skin pigmentation |
ORPHA:743 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98794 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Iris hypopigmentation, Long eye... |
ORPHA:79430 |
Vici Syndrome |
|
Hypopigmentation of the skin, Abnormality of retinal pigmentation |
ORPHA:1493 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Abnormality of the subungual region, Abnormality of skin pigmentation, Anonychia, Nail dystrophy |
ORPHA:79411 |
Alg3-Cdg |
|
Hypopigmentation of the skin |
ORPHA:79321 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Multiple cafe-au-lait spots, Melanocytic nevus, Generalized hypopigmentation, Abnormality of reti... |
ORPHA:1969 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Autoimmune Polyendocrinopathy Type 1 |
|
Abnormal fingernail morphology, Alopecia, Hypopigmented skin patches |
ORPHA:3453 |
Hypoadrenocorticism, Familial |
|
Abnormality of skin pigmentation |
OMIM:240200 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hypopigmentation of the skin, Brittle hair |
OMIM:236200 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Abnormality of skin pigmentation |
ORPHA:457260 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
Adult Syndrome |
|
Alopecia, Toenail dysplasia, Sparse scalp hair, Melanocytic nevus, Fingernail dysplasia, Absent n... |
ORPHA:978 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Synophrys, Aplastic/hypoplastic toenail, Hypopigmented skin patches |
ORPHA:1295 |
Intellectual Disability And Myopathy Syndrome |
|
Spotty hypopigmentation, Cafe-au-lait spot |
OMIM:619719 |
Ocular Albinism With Late-Onset Sensorineural Deafness |
|
Ocular albinism |
ORPHA:1000 |
Acrofrontofacionasal Dysostosis |
|
Brushfield spots, Aplasia/Hypoplasia of the eyebrow, Anonychia, Hypopigmented skin patches |
ORPHA:1784 |
Epidermal Nevus Syndrome |
|
Hyperpigmentation of the skin, Hypopigmentation of the skin |
ORPHA:35125 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Spotty hypopigmentation, Synophrys, Hirsutism, Abnormal hair whorl, Low posterior hairline, Nail ... |
OMIM:300860 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Hypopigmentation of the skin, Onychogryposis, Depigmentation/hyperpigmentation of skin,... |
ORPHA:79396 |
Neurofibromatosis, Familial Spinal |
|
Freckling, Cafe-au-lait spot |
OMIM:162210 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair |
ORPHA:100 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia, Hypopigmentation of the skin |
OMIM:163200 |
Crouzon Syndrome |
|
Melanocytic nevus, Hypopigmented skin patches |
ORPHA:207 |
Papillon-Lefèvre Syndrome |
|
Sparse body hair, Abnormality of the nail, Hypopigmented skin patches, Abnormal fingernail morpho... |
ORPHA:678 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Fair hair, Red hair, Blue irides |
OMIM:614613 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Impulsivity, Hyperactivity, Synophrys |
OMIM:300143 |
Free Sialic Acid Storage Disease |
|
Iris hypopigmentation, Abnormality of skin pigmentation |
ORPHA:834 |
Pontocerebellar Hypoplasia, Type 7 |
|
Synophrys, Hypopigmentation of the skin, Hirsutism |
OMIM:614969 |
Porphyria Variegata |
|
Hyperpigmentation of the skin, Hypopigmentation of the skin, Hypertrichosis |
ORPHA:79473 |
Porphyria, Congenital Erythropoietic |
|
Alopecia, Hypopigmentation of the skin, Absent eyebrow, Hyperpigmentation of the skin, Loss of ey... |
OMIM:263700 |
Curry-Jones Syndrome |
|
Generalized hirsutism, Hypopigmented skin patches |
ORPHA:1553 |
Porphyria Cutanea Tarda |
|
Hyperpigmentation of the skin, Hypopigmentation of the skin, Hirsutism, Hypertrichosis |
ORPHA:101330 |
Hartnup Disease |
|
Irregular hyperpigmentation, Hypopigmented skin patches |
ORPHA:2116 |
Pemphigus Erythematosus |
|
Hypopigmented skin patches |
ORPHA:79480 |
Mismatch Repair Cancer Syndrome 1 |
|
Axillary freckling, Hypopigmentation of the skin, Multiple cafe-au-lait spots |
OMIM:276300 |
Slc35A2-Cdg |
|
Hypopigmentation of the skin |
ORPHA:356961 |
Hermansky-Pudlak Syndrome 4 |
|
Albinism, Ocular albinism |
OMIM:614073 |
Oculocutaneous Albinism Type 5 |
|
Ocular albinism |
ORPHA:370091 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormal hair morphology, Abnormality of skin pigmentation, Premature graying of hair |
ORPHA:1979 |
Hermansky-Pudlak Syndrome 2 |
|
Generalized hypopigmentation, Ocular albinism, Fair hair, Albinism, Aberrant melanosome maturation |
OMIM:608233 |
Buschke-Ollendorff Syndrome |
|
Generalized hypopigmentation |
ORPHA:1306 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormal fingernail morphology, Abnormality of skin pigmentation, Sparse hair, Fine hair |
ORPHA:1806 |
Rothmund-Thomson Syndrome |
|
Sparse eyebrow, Hypopigmentation of the skin, Small nail, Alopecia totalis, Abnormality of the na... |
ORPHA:2909 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Cafe-au-lait spot, Hypopigmented skin patches |
ORPHA:457485 |
Angelman Syndrome |
|
Fair hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:72 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmented skin patches |
ORPHA:2715 |
Hermansky-Pudlak Syndrome 7 |
|
Albinism, Ocular albinism |
OMIM:614076 |
Ruvalcaba Syndrome |
|
Generalized hirsutism, Hypopigmented skin patches |
ORPHA:3121 |
Bloom Syndrome |
|
Spotty hypopigmentation, Hypopigmentation of the skin, Cafe-au-lait spot, Hypertrichosis |
OMIM:210900 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse eyelashes, Abnormality of skin pigmentation, Sparse eyebrow, Sparse scalp hair |
ORPHA:75496 |
Prader-Willi Syndrome |
|
Hypopigmentation of the skin, Generalized hypopigmentation, Frontal upsweep of hair, Iris hypopig... |
OMIM:176270 |
Mosaic Trisomy 8 |
|
Hypopigmentation of the skin, Hypopigmented skin patches |
ORPHA:96061 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair |
ORPHA:70472 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Abnormality of skin pigmentation, Hypertrichosis |
OMIM:612379 |
X-Linked Agammaglobulinemia |
|
Alopecia, Hypopigmented skin patches |
ORPHA:47 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Premature graying of hair, Hypopigmented skin patches, Hypopigmentat... |
ORPHA:163746 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398079 |
Chédiak-Higashi Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation, Large clumps of pigment irregularly distribu... |
ORPHA:167 |
Hermansky-Pudlak Syndrome 5 |
|
Albinism, Iris transillumination defect, Ocular albinism |
OMIM:614074 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98754 |
Oculocerebrocutaneous Syndrome |
|
Abnormal fingernail morphology, Alopecia, Hypopigmented skin patches |
ORPHA:1647 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98793 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Stellate iris, Hyp... |
ORPHA:177907 |
Rothmund-Thomson Syndrome Type 1 |
|
Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow, Alopecia totalis, Nail dysplasia... |
ORPHA:221008 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:177901 |
Incontinentia Pigmenti |
|
Atrophic, patchy alopecia, Alopecia, Abnormality of skin pigmentation, Breast aplasia, Supernumer... |
OMIM:308300 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Cafe-au-lait spot, Trichorrhexis nodosa, Generalized hypopigmentation, Brittle hair, ... |
OMIM:222470 |
Cholestasis-Lymphedema Syndrome |
|
Abnormality of skin pigmentation |
ORPHA:1414 |
Incontinentia Pigmenti |
|
Alopecia, Irregular hyperpigmentation, Abnormality of skin pigmentation, Dystrophic toenail, Supe... |
ORPHA:464 |
Syndromic Diarrhea |
|
Trichorrhexis nodosa, Cafe-au-lait spot, Generalized hypopigmentation, Brittle hair, Woolly hair,... |
ORPHA:84064 |
Porphyria |
|
Abnormality of skin pigmentation |
ORPHA:738 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hypopigmentation of hair, Premature graying of hair, Generalized h... |
ORPHA:3322 |
Vici Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Ocular albinism |
OMIM:242840 |
Prader-Willi-Like Syndrome |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:398073 |
Rothmund-Thomson Syndrome Type 2 |
|
Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow, Alopecia totalis, Nail dysplasia... |
ORPHA:221016 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398069 |
Harrod Syndrome |
|
Hypopigmented skin patches |
ORPHA:2115 |
Hepatoerythropoietic Porphyria |
|
Hypopigmentation of the skin, Scarring alopecia of scalp, Facial hypertrichosis, Hyperpigmentatio... |
ORPHA:95159 |
Localized Scleroderma |
|
Hypopigmented skin patches, Abnormality of skin adnexa morphology, Patchy alopecia, Vitiligo, Hyp... |
ORPHA:90289 |
Gapo Syndrome |
|
Alopecia, Sparse eyebrow, Hypopigmented skin patches, Sparse eyelashes, Early balding |
ORPHA:2067 |
Diffuse Cutaneous Mastocytosis |
|
Mixed hypo- and hyperpigmentation of the skin |
ORPHA:79456 |
Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation |
OMIM:618156 |
Craniolenticulosutural Dysplasia |
|
Abnormality of skin pigmentation, Brittle hair, Coarse hair, Hyperpigmentation of the skin, Spars... |
ORPHA:50814 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
Short Stature With Microcephaly And Distinctive Facies |
|
Spotty hypopigmentation, Sparse scalp hair, Spotty hyperpigmentation, Sparse eyebrow |
OMIM:615789 |
Hypohidrotic Ectodermal Dysplasia |
|
Irregular hyperpigmentation, Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodosa, Generalized... |
ORPHA:238468 |
Dyskeratosis Congenita |
|
Alopecia, Abnormal eyebrow morphology, Premature graying of hair, Hypopigmented skin patches, Abn... |
ORPHA:1775 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse eyebrow, Sparse scalp hair, Generalized hypopigmentation, Fair hair, Sparse axillary hair,... |
OMIM:604292 |
Dyskeratosis Congenita, Digenic |
|
Sparse eyelashes, Abnormality of skin pigmentation, Nail dystrophy, Alopecia |
OMIM:620040 |
Bloom Syndrome |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Patchy alopecia, Paronychia, Sparse eyelashes |
ORPHA:125 |
Galloway-Mowat Syndrome 1 |
|
Hypopigmentation of the skin, Small nail |
OMIM:251300 |
Eec Syndrome |
|
Sparse eyebrow, Generalized hypopigmentation, Fine hair, Nail pits, Coarse hair, Thick eyebrow, N... |
ORPHA:1896 |
Mandibuloacral Dysplasia |
|
Hypoplastic fingernail, Alopecia, Abnormality of skin pigmentation, Sparse hair |
ORPHA:2457 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Aplasia/Hypoplasia of the eyebrow, Multiple cafe-au-lait spots, Fine hair, Hypopigmented skin pat... |
ORPHA:2637 |
Brittle Cornea Syndrome 1 |
|
Red hair |
OMIM:229200 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse eyebrow, Sparse scalp hair, Generalized hypopigmentation, Fair hair, Sparse axillary hair,... |
OMIM:129900 |
Mucolipidosis Ii Alpha/Beta |
|
Sparse eyebrow, Hypopigmentation of the skin, Sparse hair, Brittle hair |
OMIM:252500 |
Familial Tumoral Calcinosis |
|
Hypopigmented skin patches |
ORPHA:53715 |
Chromomycosis |
|
Hypopigmented skin patches |
ORPHA:182 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Synophrys, Hypopigmentation of the skin |
OMIM:301066 |
Bone Marrow Failure Syndrome 3 |
|
Small nail, Abnormality of skin pigmentation, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Nai... |
OMIM:617052 |
Duane Retraction Syndrome |
|
Irregular hyperpigmentation, Patchy hypopigmentation of hair, Central heterochromia, Hypopigmente... |
ORPHA:233 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock, Heterochromia iridis |
OMIM:609136 |
Tetragametic Chimerism |
|
Hypopigmented skin patches |
ORPHA:199310 |
Degcags Syndrome |
|
Hypopigmentation of the skin, Abnormality of skin pigmentation, Abnormal eyebrow morphology, Prem... |
OMIM:619488 |
Rare Cutaneous Lupus Erythematosus |
|
Leukonychia, Nail bed telangiectasia, Mixed hypo- and hyperpigmentation of the skin, Nail bed hem... |
ORPHA:535 |
Congenital Erythropoietic Porphyria |
|
Hypopigmentation of the skin, Scarring alopecia of scalp, Facial hypertrichosis, Hyperpigmentatio... |
ORPHA:79277 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Alopecia, Hypopigmentation of the skin, Cafe-au-lait spot, Fair hair, Vitiligo |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Alopecia, Hypopigmentation of the skin, Cafe-au-lait spot, Fair hair, Vitiligo |
ORPHA:363958 |
Focal Dermal Hypoplasia |
|
Hypopigmentation of the skin, Linear hyperpigmentation, Brittle hair, Absent toenail, Absent fing... |
OMIM:305600 |
Cystinosis, Nephropathic |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Pigmentary retinopathy, Retinal pigment e... |
OMIM:219800 |
Infantile Krabbe Disease |
|
Hypopigmented skin patches |
ORPHA:206436 |
Hereditary Acrokeratotic Poikiloderma |
|
Dystrophic toenail, Irregular hyperpigmentation, Hypopigmented skin patches, Dystrophic fingernai... |
ORPHA:2907 |
Neurofibromatosis Type 1 |
|
Melanocytic nevus, Generalized hyperpigmentation, Hypopigmented skin patches, Abnormality of reti... |
ORPHA:636 |
Mosaic Trisomy 20 |
|
Depigmentation/hyperpigmentation of skin, Hypopigmented streaks |
ORPHA:1724 |
Xeroderma Pigmentosum |
|
Alopecia, Melanocytic nevus, Hypopigmented skin patches, Freckling, Hypermelanotic macule |
ORPHA:910 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hypopigmentation of the skin, Abnormality of skin pigmentation, Melanocytic nevus, Synophrys, Bro... |
OMIM:619475 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Hypopigmented skin patches |
ORPHA:183 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Hypopigmentation of hair, Ocular albinism |
ORPHA:2719 |
Koolen-De Vries Syndrome |
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Hypopigmentation of hair, Abnormality of hair texture |
ORPHA:96169 |
Kindler Syndrome |
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Spotty hypopigmentation, Ridged nail, Spotty hyperpigmentation |
OMIM:173650 |
Histidinemia |
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Hyperactivity |
ORPHA:2157 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
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Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Cafe-au-lait s... |
OMIM:210720 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Vitiligo, Hypermelanotic macule, Hypopigmented skin patches on arms |
OMIM:607944 |
Scleroderma |
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Spotty hypopigmentation, Irregular hyperpigmentation, Alopecia |
ORPHA:801 |
X-Linked Intellectual Disability, Nascimento Type |
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Patchy hypo- and hyperpigmentation, Synophrys, Lumbar hypertrichosis, Abnormal hair whorl, Low po... |
ORPHA:163956 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Alopecia, Generalized hypopigmentation |
OMIM:619321 |
Ablepharon Macrostomia Syndrome |
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Abnormality of skin pigmentation, Absent eyelashes, Fine hair, Absent eyebrow, Abnormal hair patt... |
ORPHA:920 |
Brittle Cornea Syndrome |
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Abnormality of hair pigmentation |
ORPHA:90354 |
Alkaptonuria |
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Irregular hyperpigmentation, Abnormality of skin pigmentation, Abnormality of the nail |
ORPHA:56 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Hypopigmentation of hair, Widow's peak, Dry hair, Coarse hair |
ORPHA:1974 |
Systemic Sclerosis |
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Spotty hypopigmentation, Irregular hyperpigmentation, Nail bed telangiectasia, Alopecia |
ORPHA:90291 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Hypopigmentation of the skin, Hyperpigmentation of the skin, Anonychia, Nail dystrophy, Trichiasis |
ORPHA:95455 |
Microphthalmia With Linear Skin Defects Syndrome |
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Abnormality of skin pigmentation, Abnormality of the nail, Abnormality of retinal pigmentation, H... |
ORPHA:2556 |
Pitt-Hopkins Syndrome |
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Supernumerary nipple, Hypopigmented skin patches |
ORPHA:2896 |
Atypical Werner Syndrome |
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Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Patchy hypo- and hyperpigmentation... |
ORPHA:79474 |
Oculocerebrorenal Syndrome Of Lowe |
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Fine hair, Sparse scalp hair, Generalized hypopigmentation |
ORPHA:534 |
Sarcoidosis |
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Hyperpigmentation of the skin, Hypopigmentation of the skin, Alopecia |
ORPHA:797 |
Cowden Syndrome |
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Multiple cafe-au-lait spots, Melanocytic nevus, Hypopigmented skin patches |
ORPHA:201 |
Fanconi Anemia |
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Irregular hyperpigmentation, Abnormality of skin pigmentation, Multiple cafe-au-lait spots, Hypop... |
ORPHA:84 |
Acrodysostosis With Multiple Hormone Resistance |
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Hyperactivity, Hypogonadism, Fair hair, Blue irides, Red hair |
ORPHA:280651 |
X-Linked Intellectual Disability, Snyder Type |
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Synophrys, Patchy hypo- and hyperpigmentation, Sparse eyebrow |
ORPHA:3063 |
Menkes Disease |
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Hypopigmentation of hair, Sparse hair, Woolly hair |
ORPHA:565 |
Pallister-Killian Syndrome |
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Sparse eyebrow, Hypopigmentation of the skin, Sparse scalp hair, Alopecia, Hypopigmented streaks,... |
OMIM:601803 |
Sotos Syndrome |
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Hyperpigmentation of the skin, Hypopigmentation of the skin, Small nail, Sparse anterior scalp hair |
ORPHA:821 |
Mend Syndrome |
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Spotty hypopigmentation |
ORPHA:401973 |
22Q11.2 Deletion Syndrome |
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Hypopigmented skin patches |
ORPHA:567 |
Mend Syndrome |
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Spotty hypopigmentation |
OMIM:300960 |
Smith-Lemli-Opitz Syndrome |
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Hypopigmentation of hair, Abnormal eyelash morphology |
ORPHA:818 |