Hairy Palms And Soles |
|
Hypermelanotic macule |
OMIM:139650 |
Cafe-Au-Lait Spots, Multiple |
|
Multiple cafe-au-lait spots |
OMIM:114030 |
Hyperpigmentation, Familial Progressive, 1 |
|
Hyperpigmentation of the skin |
OMIM:614233 |
Nasal Hyperpigmentation, Familial Transverse |
|
Hyperpigmentation of the skin |
OMIM:161530 |
Acroleukopathy, Symmetric |
|
Symmetric great toe depigmentation |
OMIM:102000 |
Dowling-Degos Disease 1 |
|
Progressive reticulate hyperpigmentation |
OMIM:179850 |
Lentiginosis, Inherited Patterned |
|
Hypermelanotic macule |
OMIM:151001 |
Hyperpigmentation Of Fuldauer And Kuijpers |
|
Hyperpigmentation of the skin |
OMIM:145200 |
Familial Isolated Café-Au-Lait Macules |
|
Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
Nevus, Epidermal |
|
Melanocytic nevus |
OMIM:162900 |
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect |
|
Hyperpigmentation of the skin |
OMIM:202355 |
Dyschromatosis Symmetrica Hereditaria |
|
Hyperpigmented/hypopigmented macules |
OMIM:127400 |
Mediosternal Depigmentation Line |
|
Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
Dowling-Degos Disease 3 |
|
Hyperpigmented/hypopigmented macules |
OMIM:615674 |
Dyschromatosis Universalis Hereditaria 1 |
|
Hyperpigmented/hypopigmented macules |
OMIM:127500 |
Diamond-Blackfan Anemia 17 |
|
Hyperpigmentation of the skin |
OMIM:617409 |
Uv-Sensitive Syndrome 2 |
|
Freckling |
OMIM:614621 |
Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
Glucocorticoid Deficiency 3 |
|
Hyperpigmentation of the skin |
OMIM:609197 |
Dyschromatosis Universalis Hereditaria |
|
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... |
ORPHA:241 |
Congenital Disorder Of Glycosylation, Type I/Iix |
|
Abnormality of skin pigmentation |
OMIM:212067 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... |
OMIM:145250 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
Vitiligo |
OMIM:606579 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Dowling-Degos Disease 2 |
|
Hypomelanotic macule, Reticular hyperpigmentation |
OMIM:615327 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation |
OMIM:300719 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus |
ORPHA:2435 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Multiple cafe-au-lait spots, Irregular hyperpigmentation |
ORPHA:1336 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation |
OMIM:237450 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome |
|
Hypopigmented skin patches, Hyperpigmentation of the skin |
ORPHA:2819 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 |
|
Vitiligo |
OMIM:193200 |
Erythrokeratoderma ''En Cocardes'' |
|
Abnormality of skin pigmentation |
ORPHA:315 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Hyperpigmented streaks |
OMIM:614323 |
Albinism-Deafness Syndrome |
|
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Autoimmune Disease, Susceptibility To, 1 |
|
Vitiligo |
OMIM:607836 |
Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis |
OMIM:103500 |
Glucocorticoid Deficiency 5 |
|
Hyperpigmentation of the skin |
OMIM:617825 |
Uv-Sensitive Syndrome 1 |
|
Freckling, Pigmentation anomalies of sun-exposed skin |
OMIM:600630 |
Drug-Induced Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90157 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin pigmentati... |
ORPHA:79397 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock |
OMIM:601706 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Uv-Sensitive Syndrome 3 |
|
Freckling |
OMIM:614640 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Premature graying of hair, Numerous p... |
OMIM:193510 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
Hypertrichosis Lanuginosa Congenita |
|
Abnormality of skin pigmentation |
ORPHA:2222 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Glucocorticoid Deficiency 2 |
|
Hyperpigmentation of the skin |
OMIM:607398 |
Deafness, Congenital, With Vitiligo And Achalasia |
|
Vitiligo |
OMIM:221350 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Limited Cutaneous Systemic Sclerosis |
|
Abnormality of skin pigmentation, Hypopigmented skin patches |
ORPHA:220402 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Abnormality of skin pigmentation |
ORPHA:79402 |
Large Congenital Melanocytic Nevus |
|
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches |
ORPHA:626 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Abnormality of skin pigmentation |
ORPHA:745 |
Darier Disease |
|
Abnormality of skin pigmentation, Hypermelanotic macule |
ORPHA:218 |
Familial Cutaneous Collagenoma |
|
Abnormality of skin pigmentation |
ORPHA:53296 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Abnormality of skin pigmentation |
OMIM:613988 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Abnormality of skin pigmentation |
OMIM:225050 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Abnormality of skin pigmentation |
ORPHA:743 |
Hypoadrenocorticism, Familial |
|
Abnormality of skin pigmentation |
OMIM:240200 |
Waardenburg Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Abnormality of skin pigmentation, Premature... |
ORPHA:3440 |