Neurofibromatosis Type 6 |
|
Freckling, Multiple cafe-au-lait spots |
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 |
|
Spotty hypopigmentation, Hypopigmented skin patches, Freckling, Multiple cafe-au-lait spots, Hype... |
ORPHA:241 |
Schizophrenia 19 |
|
Cognitive impairment |
OMIM:617629 |
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 |
Mediosternal Depigmentation Line |
|
Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
Glucocorticoid Deficiency 3 |
|
Hyperpigmentation of the skin |
OMIM:609197 |
Tietz Syndrome |
|
Hypopigmentation of the skin, Abnormality of skin pigmentation, White eyebrow, Hypopigmentation o... |
ORPHA:42665 |
Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Irregular hyperpigmentation, Multiple cafe-au-lait spots |
ORPHA:1336 |
Erythrokeratoderma ''En Cocardes'' |
|
Abnormality of skin pigmentation |
ORPHA:315 |
Dowling-Degos Disease 2 |
|
Hypomelanotic macule, Reticular hyperpigmentation |
OMIM:615327 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Irregular hyperpigmentation, Melanocytic nevus, Hypopigmented skin patches |
ORPHA:2435 |
Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
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 |
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome |
|
Hyperpigmentation of the skin, Hypopigmented skin patches |
ORPHA:2819 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Cafe-au-lait spot, Multiple lentigines, Hypopigmented skin patches, Progressive hyperpigmentation... |
OMIM:145250 |
Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation |
OMIM:237450 |
Linear Atrophoderma Of Moulin |
|
Linear hyperpigmentation |
ORPHA:140933 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism |
ORPHA:79478 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Sensorineural hearing impairment, Premature gray... |
OMIM:619947 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Generalized hyperpigmentation |
ORPHA:2253 |
Ermine Phenotype |
|
Sensorineural hearing impairment, Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentat... |
OMIM:227010 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Retinitis Pigmentosa 35 |
|
Abnormality of skin pigmentation |
OMIM:610282 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 |
|
Vitiligo |
OMIM:193200 |
Hypertrichosis Lanuginosa Congenita |
|
Abnormality of skin pigmentation, Hearing impairment |
ORPHA:2222 |
Bullous Dystrophy, Hereditary Macular Type |
|
Hyperpigmentation of the skin, Short finger, Tapered finger |
OMIM:302000 |
Tietz Albinism-Deafness Syndrome |
|
Generalized hypopigmentation, White eyelashes, White eyebrow, Heterochromia iridis, Blue irides, ... |
OMIM:103500 |
Glucocorticoid Deficiency 5 |
|
Hyperpigmentation of the skin |
OMIM:617825 |
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 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Short distal phalanx of finger, Aplasia/Hypo... |
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, White forelock, Patchy hypo- and hyperpigmentation, Nume... |
OMIM:601706 |
Uv-Sensitive Syndrome 1 |
|
Freckling, Pigmentation anomalies of sun-exposed skin |
OMIM:600630 |
Drug-Induced Localized Lipodystrophy |
|
Hyperpigmentation of the skin, Hypopigmentation of the skin |
ORPHA:90157 |
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 |
Uv-Sensitive Syndrome 3 |
|
Freckling |
OMIM:614640 |
Albinism-Deafness Syndrome |
|
Patchy hypo- and hyperpigmentation, Piebaldism, Albinism, Congenital sensorineural hearing impair... |
OMIM:300700 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
Vitiligo |
OMIM:606579 |
Albinism-Deafness Syndrome |
|
Irregular hyperpigmentation, Sensorineural hearing impairment, Piebaldism, Hypopigmented skin pat... |
ORPHA:998 |
Albinism, Ocular, With Late-Onset Sensorineural Deafness |
|
Albinism, Giant melanosomes in melanocytes, Adult onset sensorineural hearing impairment |
OMIM:300650 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Mottled pigmentation, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Ret... |
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 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect |
OMIM:619165 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Hypopigmentation of the skin |
OMIM:610798 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... |
OMIM:607624 |
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Brachytelomesophalangy, Freckling, Short distal phalanx of finger |
ORPHA:1547 |
Albinism, Oculocutaneous, Type Vi |
|
Fair hair, Generalized hypopigmentation |
OMIM:113750 |
Waardenburg Syndrome, Type 2A |
|
Sensorineural hearing impairment, Premature graying of hair, Albinism, White eyelashes, White eye... |
OMIM:193510 |
Waardenburg Syndrome, Type 4B |
|
Sensorineural hearing impairment, Premature graying of hair, White eyelashes, White eyebrow, Hypo... |
OMIM:613265 |
Porphyria Cutanea Tarda, Type I |
|
Hyperpigmentation of the skin |
OMIM:176090 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Hypopigmented skin patches, Palm... |
ORPHA:2251 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest, Hearing impairment |
OMIM:172850 |
Arterial Dissection-Lentiginosis Syndrome |
|
Melanocytic nevus |
ORPHA:1682 |
Glucocorticoid Deficiency 2 |
|
Hyperpigmentation of the skin |
OMIM:607398 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... |
OMIM:256710 |
Deafness, Congenital, With Vitiligo And Achalasia |
|
Vitiligo, Hearing impairment |
OMIM:221350 |
Epidermolysis Bullosa Acquisita |
|
Hyperpigmentation of the skin |
ORPHA:46487 |
Oculocutaneous Albinism Type 3 |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... |
ORPHA:79433 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... |
OMIM:203200 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... |
OMIM:172800 |
Spastic Paraplegia 23, Autosomal Recessive |
|
Premature graying of body hair, Multiple lentigines, Vitiligo, Scapular winging, Hyperpigmentatio... |
OMIM:270750 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Palmoplantar keratoderma, Abnormality of skin pigmentation |
ORPHA:79402 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Profuse pigmented skin lesions |
ORPHA:280785 |
Porokeratosis |
|
Abnormality of skin pigmentation |
ORPHA:79358 |
Xeroderma Pigmentosum Variant |
|
Freckles in sun-exposed areas, Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90342 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Small hand, Iris hypopigmentation, Abnormal ulnar metaphysis morpho... |
ORPHA:177910 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Generalized hypopigmentation, Palmoplantar hyperkeratosis, Spotty hyperpigmentation, Hyperpigment... |
ORPHA:158681 |
Familial Cutaneous Collagenoma |
|
Abnormality of skin pigmentation |
ORPHA:53296 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Abnormality of skin pigmentation |
ORPHA:745 |
Idiopathic Localized Lipodystrophy |
|
Hyperpigmentation of the skin, Hypopigmentation of the skin |
ORPHA:90158 |
Darier Disease |
|
Hypermelanotic macule, Palmoplantar keratoderma, Abnormality of skin pigmentation |
ORPHA:218 |
Acral Peeling Skin Syndrome |
|
Hyperpigmentation of the skin, Excessive wrinkling of palmar skin |
ORPHA:263534 |
Albinism, Ocular, Type I |
|
Giant melanosomes in melanocytes, Ocular albinism |
OMIM:300500 |
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 |
Terminal Osseous Dysplasia |
|
Camptodactyly of finger, Short toe, Abnormality of skin pigmentation, Camptodactyly of toe, Clino... |
OMIM:300244 |
X-Linked Sideroblastic Anemia |
|
Hyperpigmentation of the skin |
ORPHA:75563 |
Vogt-Koyanagi-Harada Disease |
|
Sensorineural hearing impairment, Premature graying of hair, Hypopigmented skin patches, Vitiligo... |
ORPHA:3437 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Hypopigmentation of the skin, Prominent interdigital folds, Short 1st metacarpal, Short distal ph... |
OMIM:601957 |
Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism |
OMIM:614171 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Abnormality of skin pigmentation |
OMIM:613988 |
Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... |
ORPHA:79435 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Hyperpigmentation of the skin |
OMIM:613743 |
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 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormality of skin pigmentation |
ORPHA:1810 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Abnormality of skin pigmentation |
ORPHA:743 |
Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... |
ORPHA:79434 |
Autosomal Recessive Spastic Paraplegia Type 23 |
|
Silver-gray hair, Vitiligo, Multiple lentigines |
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 |
|
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os... |
ORPHA:50815 |
Neurofibromatosis, Familial Spinal |
|
Freckling, Cafe-au-lait spot |
OMIM:162210 |
Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... |
ORPHA:79432 |
Watson Syndrome |
|
Inguinal freckling, Multiple cafe-au-lait spots, Axillary freckling, Low-set ears, Posteriorly ro... |
OMIM:193520 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Mitten deformity, Palmoplantar keratoderma, Abnormality of skin pigmentation |
ORPHA:79411 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Hyperpigmentation of the skin, Palmoplantar keratoderma |
OMIM:104100 |
Gastrointestinal Stromal Tumor |
|
Hyperpigmentation of the skin, Large hands |
OMIM:606764 |
X-Linked Recessive Ocular Albinism |
|
Giant melanosomes in melanocytes, Iris hypopigmentation, Freckling, Ocular albinism |
ORPHA:54 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... |
ORPHA:79431 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Hypermelanotic macule, Freckling, Palmoplantar keratoderma, Hypomelanotic macule |
OMIM:618373 |
Oculocutaneous Albinism |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... |
ORPHA:55 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Sensorineural hearing impairment, Iris hypopigmentation, Hypopigmented skin patches, Hypopigmenta... |
ORPHA:3214 |
Carney Complex, Type 1 |
|
Red hair, Profuse pigmented skin lesions, Freckling, Multiple lentigines |
OMIM:160980 |
Free Sialic Acid Storage Disease |
|
Iris hypopigmentation, Abnormality of the upper limb, Abnormality of skin pigmentation |
ORPHA:834 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Low-set ears, Abnormality of skin pigmentation, Sandal gap, Brachydactyly |
ORPHA:2180 |
Porphyria |
|
Abnormality of skin pigmentation, Dupuytren contracture |
ORPHA:738 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Abnormality of skin pigmentation |
OMIM:616353 |
Waardenburg Syndrome |
|
Abnormality of skin pigmentation, Conductive hearing impairment, Premature graying of hair, Hypop... |
ORPHA:3440 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Palmoplantar keratoderma, Abnormality of skin pigmentation, Premature graying of hair, Abnormalit... |
ORPHA:1979 |
Cronkhite-Canada Syndrome |
|
Abnormality of skin pigmentation, Tapered finger, Generalized hyperpigmentation |
ORPHA:2930 |
Cholestasis-Lymphedema Syndrome |
|
Abnormality of skin pigmentation |
ORPHA:1414 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Long toe, Abnormality of skin pigmentation, Palmoplantar cutis gyrata, Arachnodactyly |
ORPHA:75496 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Low-set ears, Abnormality of skin pigmentation |
OMIM:612379 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormality of skin pigmentation, Hearing impairment, Protruding ear |
ORPHA:1806 |
Hennekam-Beemer Syndrome |
|
Camptodactyly of finger, Irregular hyperpigmentation, Conductive hearing impairment, Abnormality ... |
ORPHA:2135 |
Cohen Syndrome |
|
Abnormality of skin pigmentation, Sensorineural hearing impairment, Tapered finger, Aplasia/Hypop... |
ORPHA:193 |
Fanconi Anemia, Complementation Group A |
|
Absent thumb, Abnormality of skin pigmentation, Cafe-au-lait spot, Complete duplication of thumb ... |
OMIM:227650 |
Mandibuloacral Dysplasia |
|
Osteolytic defects of the distal phalanges of the hand, Abnormality of skin pigmentation, Acroost... |
ORPHA:2457 |
3Q29 Microdeletion Syndrome |
|
Macrotia, Abnormality of skin pigmentation, Tapered finger, Clinodactyly of the 5th finger, Low-s... |
ORPHA:65286 |
Dyskeratosis Congenita, Digenic |
|
Abnormality of skin pigmentation, Abnormal palmar dermatoglyphics |
OMIM:620040 |
Bone Marrow Failure Syndrome 3 |
|
Cupped ear, Abnormality of skin pigmentation, Hearing impairment |
OMIM:617052 |
Craniolenticulosutural Dysplasia |
|
Hyperpigmentation of the skin, Abnormality of skin pigmentation |
ORPHA:50814 |
Mastocytosis |
|
Abnormality of skin pigmentation |
ORPHA:98292 |
Fanconi Anemia, Complementation Group D2 |
|
Aplasia of the 1st metacarpal, Absent thumb, Abnormality of skin pigmentation, Cafe-au-lait spot,... |
OMIM:227646 |
Alkaptonuria |
|
Irregular hyperpigmentation, Abnormality of skin pigmentation |
ORPHA:56 |
Ring Chromosome 7 Syndrome |
|
Small earlobe, Abnormality of skin pigmentation, Cafe-au-lait spot, Prominent crus of helix, Shor... |
ORPHA:1449 |
Ablepharon Macrostomia Syndrome |
|
Camptodactyly of finger, Abnormality of skin pigmentation, Microtia, Toe syndactyly, Hearing impa... |
ORPHA:920 |
Ring Chromosome 13 Syndrome |
|
Aplasia/hypoplasia involving bones of the hand, Macrotia, Abnormality of skin pigmentation, Cafe-... |
ORPHA:96176 |
Kindler Epidermolysis Bullosa |
|
Camptodactyly of finger, Abnormality of skin pigmentation, Short 4th metacarpal, Finger syndactyl... |
ORPHA:2908 |
Proteus Syndrome |
|
Irregular hyperpigmentation, Abnormality of skin pigmentation, Melanocytic nevus, Macrotia, Narro... |
ORPHA:744 |
Gardner Syndrome |
|
Abnormality of skin pigmentation |
ORPHA:79665 |
Familial Colorectal Cancer Type X |
|
Irritability, Memory impairment, Anxiety |
ORPHA:440437 |
Blackfan-Diamond Anemia |
|
Triphalangeal thumb, Absent thumb, Abnormality of the upper limb, Abnormality of the thenar emine... |
ORPHA:124 |