Familial Isolated Café-Au-Lait Macules |
|
Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
Cafe-Au-Lait Spots, Multiple |
|
Multiple cafe-au-lait spots |
OMIM:114030 |
Hairy Palms And Soles |
|
Hypermelanotic macule |
OMIM:139650 |
Lentiginosis, Inherited Patterned |
|
Hypermelanotic macule |
OMIM:151001 |
Dowling-Degos Disease 1 |
|
Progressive reticulate hyperpigmentation |
OMIM:179850 |
Acroleukopathy, Symmetric |
|
Symmetric great toe depigmentation |
OMIM:102000 |
Hyperpigmentation Of Fuldauer And Kuijpers |
|
Hyperpigmentation of the skin |
OMIM:145200 |
Hyperpigmentation, Familial Progressive, 1 |
|
Hyperpigmentation of the skin |
OMIM:614233 |
Nasal Hyperpigmentation, Familial Transverse |
|
Hyperpigmentation of the skin |
OMIM:161530 |
Nevus, Epidermal |
|
Melanocytic nevus |
OMIM:162900 |
Dyschromatosis Universalis Hereditaria 3 |
|
Hypermelanotic macule |
OMIM:615402 |
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect |
|
Hyperpigmentation of the skin |
OMIM:202355 |
Uv-Sensitive Syndrome 2 |
|
Freckling |
OMIM:614621 |
Diamond-Blackfan Anemia 17 |
|
Hyperpigmentation of the skin |
OMIM:617409 |
Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
Congenital Disorder Of Glycosylation, Type I/Iix |
|
Abnormality of skin pigmentation |
OMIM:212067 |
Dyschromatosis Universalis Hereditaria |
|
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... |
ORPHA:241 |
Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation, Hearing impairment |
OMIM:300719 |
Dowling-Degos Disease 3 |
|
Hyperpigmented/hypopigmented macules |
OMIM:615674 |
Dyschromatosis Universalis Hereditaria 1 |
|
Hyperpigmented/hypopigmented macules |
OMIM:127500 |
Dyschromatosis Symmetrica Hereditaria |
|
Hyperpigmented/hypopigmented macules |
OMIM:127400 |
Glucocorticoid Deficiency 3 |
|
Hyperpigmentation of the skin |
OMIM:609197 |
Mediosternal Depigmentation Line |
|
Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
Tietz Syndrome |
|
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of th... |
ORPHA:42665 |
Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Multiple cafe-au-lait spots, Irregular hyperpigmentation |
ORPHA:1336 |
Erythrokeratoderma ''En Cocardes'' |
|
Abnormality of skin pigmentation |
ORPHA:315 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Dowling-Degos Disease 2 |
|
Hypomelanotic macule, Reticular hyperpigmentation |
OMIM:615327 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus |
ORPHA:2435 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome |
|
Hypopigmented skin patches, Hyperpigmentation of the skin |
ORPHA:2819 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... |
OMIM:145250 |
Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation |
OMIM:237450 |
Linear Atrophoderma Of Moulin |
|
Linear hyperpigmentation |
ORPHA:140933 |
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses |
|
Mottled pigmentation |
OMIM:620199 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Generalized hyperpigmentation |
ORPHA:2253 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, Congenital sensorineural hearing impairment, Sensorineural hearing impairm... |
OMIM:619947 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, Sensorineural hearing impairment, White hair, Spotty hy... |
OMIM:227010 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 |
|
Vitiligo |
OMIM:193200 |
Bullous Dystrophy, Hereditary Macular Type |
|
Short finger, Hyperpigmentation of the skin, Tapered finger |
OMIM:302000 |
Glucocorticoid Deficiency 5 |
|
Hyperpigmentation of the skin |
OMIM:617825 |
Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Congenital sensorineural hearing impairment, Blue irides, General... |
OMIM:103500 |
Hypertrichosis Lanuginosa Congenita |
|
Abnormality of skin pigmentation, Hearing impairment |
ORPHA:2222 |
Amyloidosis, Primary Localized Cutaneous, 3 |
|
Generalized hyperpigmentation, Hypermelanotic macule |
OMIM:617920 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Hyperpigmented streaks |
OMIM:614323 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Hypopigmentation of the skin, Short dista... |
ORPHA:2513 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Severe sensorineural hearing impairment, Numerous pigmented freckles, Patchy hypo- and hyperpigme... |
OMIM:601706 |
Uv-Sensitive Syndrome 1 |
|
Freckling, Pigmentation anomalies of sun-exposed skin |
OMIM:600630 |
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation |
|
Punctate palmoplantar hyperkeratosis, Discrete 2 to 5-mm hyper- and hypopigmented macules, Mottle... |
OMIM:131960 |
Drug-Induced Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90157 |
Uv-Sensitive Syndrome 3 |
|
Freckling |
OMIM:614640 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
Vitiligo |
OMIM:606579 |
Albinism-Deafness Syndrome |
|
Partial albinism, Albinism, Congenital sensorineural hearing impairment, Patchy hypo- and hyperpi... |
OMIM:300700 |
Albinism-Deafness Syndrome |
|
Partial albinism, Sensorineural hearing impairment, Piebaldism, Hypopigmented skin patches, Irreg... |
ORPHA:998 |
Albinism, Ocular, With Late-Onset Sensorineural Deafness |
|
Giant melanosomes in melanocytes, Adult onset sensorineural hearing impairment, Albinism |
OMIM:300650 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin pigmentati... |
ORPHA:79397 |
Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation |
OMIM:106750 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Diffuse palmoplantar hyperkeratosis, Hypopigmentation of the skin |
OMIM:617294 |
Autoimmune Disease, Susceptibility To, 1 |
|
Vitiligo |
OMIM:607836 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Hypopigmentation of the skin |
OMIM:610798 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Freckling, Short distal phalanx of finger, Brachytelomesophalangy |
ORPHA:1547 |
Albinism, Oculocutaneous, Type Vi |
|
Generalized hypopigmentation, Fair hair |
OMIM:113750 |
Porphyria Cutanea Tarda, Type I |
|
Hyperpigmentation of the skin |
OMIM:176090 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Sensorineural hearing impairment, Pre... |
OMIM:193510 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Short thumb, Hypopigmented skin patches, Protruding e... |
ORPHA:2251 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Sensorineural hearing impairment, Blue irides, Hypopigmented skin... |
OMIM:613265 |
Arterial Dissection-Lentiginosis Syndrome |
|
Melanocytic nevus |
ORPHA:1682 |
Glucocorticoid Deficiency 2 |
|
Hyperpigmentation of the skin |
OMIM:607398 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest, Hearing impairment |
OMIM:172850 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Deafness, Congenital, With Vitiligo And Achalasia |
|
Vitiligo, Hearing impairment |
OMIM:221350 |
Epidermolysis Bullosa Acquisita |
|
Hyperpigmentation of the skin |
ORPHA:46487 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Narrow palm, Small hand, Short foot, Abnormal ulnar metaphysis morpholo... |
ORPHA:177910 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Profuse pigmented skin lesions |
ORPHA:280785 |
Spastic Paraplegia 23, Autosomal Recessive |
|
Scapular winging, Premature graying of body hair, Multiple lentigines, Hyperpigmentation in sun-e... |
OMIM:270750 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Abnormality of skin pigmentation, Palmoplantar keratoderma |
ORPHA:79402 |
Xeroderma Pigmentosum Variant |
|
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin |
ORPHA:90342 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Palmoplantar hyperkeratosis, Generalized reticulate brown pigmentation, Spotty hyperpigmentation,... |
ORPHA:158681 |
Familial Cutaneous Collagenoma |
|
Abnormality of skin pigmentation |
ORPHA:53296 |
Darier Disease |
|
Abnormality of skin pigmentation, Palmoplantar keratoderma, Hypermelanotic macule |
ORPHA:218 |
Idiopathic Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90158 |
Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... |
OMIM:300244 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Abnormality of skin pigmentation |
ORPHA:745 |
Acral Peeling Skin Syndrome |
|
Hyperpigmentation of the skin, Excessive wrinkling of palmar skin |
ORPHA:263534 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Short distal phalanx of toe, Hypopigmentation of the skin, Brachydactyly, Single transverse palma... |
OMIM:601957 |
Limited Cutaneous Systemic Sclerosis |
|
Abnormality of skin pigmentation, Joint contracture of the hand, Hypopigmented skin patches |
ORPHA:220402 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Abnormality of skin pigmentation |
OMIM:225050 |
Vogt-Koyanagi-Harada Disease |
|
Poliosis, Sensorineural hearing impairment, Hypopigmented skin patches, Premature graying of hair... |
ORPHA:3437 |
X-Linked Sideroblastic Anemia |
|
Hyperpigmentation of the skin |
ORPHA:75563 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Freckling, Abnormal limb bone morphology, Melanocytic nevus |
ORPHA:1573 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Abnormality of skin pigmentation |
OMIM:613988 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Hyperpigmentation of the skin |
OMIM:613743 |
Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism |
OMIM:614171 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Large Congenital Melanocytic Nevus |
|
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches |
ORPHA:626 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:251270 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Abnormality of skin pigmentation |
ORPHA:743 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormality of skin pigmentation |
ORPHA:1810 |
Cranio-Osteoarthropathy |
|
Deviation of finger, Abnormal tibia morphology, Mottled pigmentation, Clubbing of toes |
ORPHA:1525 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Autosomal Recessive Spastic Paraplegia Type 23 |
|
Silver-gray hair, Multiple lentigines, Vitiligo |
ORPHA:101003 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Abnormality of skin pigmentation, Hearing impairment |
ORPHA:457260 |
Hypoadrenocorticism, Familial |
|
Abnormality of skin pigmentation |
OMIM:240200 |
Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Reti... |
ORPHA:50815 |
Neurofibromatosis, Familial Spinal |
|
Freckling, Cafe-au-lait spot |
OMIM:162210 |
Watson Syndrome |
|
Inguinal freckling, Posteriorly rotated ears, Axillary freckling, Low-set ears, Multiple cafe-au-... |
OMIM:193520 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Abnormality of skin pigmentation, Palmoplantar keratoderma, Mitten deformity |
ORPHA:79411 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Palmoplantar keratoderma, Hyperpigmentation of the skin |
OMIM:104100 |
Gastrointestinal Stromal Tumor |
|
Large hands, Hyperpigmentation of the skin |
OMIM:606764 |
X-Linked Recessive Ocular Albinism |
|
Freckling, Giant melanosomes in melanocytes, Ocular albinism, Iris hypopigmentation |
ORPHA:54 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Freckling, Palmoplantar keratoderma, Hypomelanotic macule, Hypermelanotic macule |
OMIM:618373 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Multiple ... |
ORPHA:3214 |
Free Sialic Acid Storage Disease |
|
Abnormality of skin pigmentation, Abnormality of the upper limb, Iris hypopigmentation |
ORPHA:834 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormality of skin pigmentation, Sandal gap, Low-set ears, Brachydactyly |
ORPHA:2180 |
Carney Complex, Type 1 |
|
Red hair, Freckling, Multiple lentigines, Profuse pigmented skin lesions |
OMIM:160980 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
Waardenburg Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Abnormality of skin pigmentation, Premature... |
ORPHA:3440 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Abnormality of skin pigmentation |
OMIM:616353 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormality of skin pigmentation, Premature graying of hair, Palmoplantar keratoderma, Abnormalit... |
ORPHA:1979 |
Cronkhite-Canada Syndrome |
|
Abnormality of skin pigmentation, Generalized hyperpigmentation, Tapered finger |
ORPHA:2930 |
Cholestasis-Lymphedema Syndrome |
|
Abnormality of skin pigmentation |
ORPHA:1414 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Abnormality of skin pigmentation, Low-set ears |
OMIM:612379 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormality of skin pigmentation, Long toe, Arachnodactyly, Palmoplantar cutis gyrata |
ORPHA:75496 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormality of skin pigmentation, Hearing impairment, Protruding ear |
ORPHA:1806 |
Hennekam-Beemer Syndrome |
|
Generalized hyperpigmentation, Camptodactyly of finger, Abnormality of skin pigmentation, Microti... |
ORPHA:2135 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finge... |
ORPHA:193 |
Fanconi Anemia, Complementation Group A |
|
Absent thumb, Absent radius, Short thumb, Abnormality of skin pigmentation, Complete duplication ... |
OMIM:227650 |
3Q29 Microdeletion Syndrome |
|
Tapered finger, Abnormality of skin pigmentation, Low-set ears, Clinodactyly of the 5th finger, M... |
ORPHA:65286 |
Mandibuloacral Dysplasia |
|
Abnormality of skin pigmentation, Acroosteolysis of distal phalanges (feet), Osteolytic defects o... |
ORPHA:2457 |
Dyskeratosis Congenita, Digenic |
|
Abnormality of skin pigmentation, Abnormal palmar dermatoglyphics |
OMIM:620040 |
Craniolenticulosutural Dysplasia |
|
Abnormality of skin pigmentation, Hyperpigmentation of the skin |
ORPHA:50814 |
Fanconi Anemia, Complementation Group D2 |
|
Absent thumb, Absent radius, Short thumb, Preaxial hand polydactyly, Partial duplication of thumb... |
OMIM:227646 |
Ring Chromosome 7 Syndrome |
|
Single transverse palmar crease, Prominent crus of helix, Small hand, Genu valgum, Abnormality of... |
ORPHA:1449 |
Alkaptonuria |
|
Abnormality of skin pigmentation, Irregular hyperpigmentation |
ORPHA:56 |
Ring Chromosome 13 Syndrome |
|
Aplasia/Hypoplasia of the thumb, Posteriorly rotated ears, Aplasia/hypoplasia involving bones of ... |
ORPHA:96176 |
Ablepharon Macrostomia Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Abnormality of skin pigmentation, Microtia, Atresia of t... |
ORPHA:920 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Abnormality of skin pigmentation, Palmoplantar kerato... |
ORPHA:2908 |
Proteus Syndrome |
|
Hallux valgus, Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigme... |
ORPHA:744 |
Gardner Syndrome |
|
Abnormality of skin pigmentation |
ORPHA:79665 |
Familial Colorectal Cancer Type X |
|
Memory impairment, Irritability, Attention deficit hyperactivity disorder, Depression |
ORPHA:440437 |
Diamond-Blackfan Anemia |
|
Absent thumb, Short thumb, Partial duplication of thumb phalanx, Microtia, Abnormality of the upp... |
ORPHA:124 |