Peeling Skin Syndrome 3 |
|
Abnormal hair morphology, Erythema, White scaling skin |
OMIM:616265 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Peeling Skin Syndrome 5 |
|
Epidermal acanthosis, Scaling skin |
OMIM:617115 |
Peeling Skin Syndrome 2 |
|
Erythema, Scaling skin |
OMIM:609796 |
Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
Keratosis Palmoplantaris Striata Ii |
|
Epidermal acanthosis |
OMIM:612908 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Epidermal acanthosis, Absent facial hair, Abnorma... |
ORPHA:90368 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Short stature, Partial albinism |
ORPHA:90023 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Concave nail, Erythema, Palmoplantar scaling skin, Scaling skin, Dry skin |
ORPHA:530838 |
Peeling Skin Syndrome 1 |
|
Brittle hair, Short stature, Onycholysis, Nail dystrophy, Scaling skin |
OMIM:270300 |
Acral Peeling Skin Syndrome |
|
Erythema, Scaling skin, Hyperpigmentation of the skin, Excessive wrinkling of palmar skin |
ORPHA:263534 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Scaling skin, Nail dystrophy, Sparse hair, Alopecia of scalp, D... |
OMIM:604536 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Dry skin, Scaling skin |
OMIM:105250 |
Epidermolytic Hyperkeratosis 1 |
|
Epidermal acanthosis, Scaling skin |
OMIM:113800 |
Idiopathic Localized Lipodystrophy |
|
Erythema, Hypopigmentation of the skin, Scaling skin, Hyperpigmentation of the skin |
ORPHA:90158 |
Acrokeratosis Verruciformis |
|
Ridged nail, Epidermal acanthosis |
OMIM:101900 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Absent pubic hair, Cutis laxa,... |
ORPHA:2269 |
Ichthyosis Hystrix, Curth-Macklin Type |
|
Scaling skin |
OMIM:146590 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Epidermal acanthosis |
OMIM:615028 |
Dowling-Degos Disease 4 |
|
Epidermal acanthosis |
OMIM:615696 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Erythema, Scaling skin |
OMIM:617571 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Short stature, Albinism, Pallor, Hypopigmentation of the skin |
ORPHA:2786 |
Acral Self-Healing Collodion Baby |
|
Palmoplantar scaling skin, Erythema, Lack of skin elasticity |
ORPHA:281127 |
Peeling Skin Syndrome 4 |
|
Nail dystrophy, Epidermal acanthosis, Scaling skin |
OMIM:607936 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Hypermelanotic macule, Dry skin, Hypomelanotic macule, Scaling skin, Nail dystrophy, Fr... |
OMIM:618373 |
Psoriasis 2 |
|
Epidermal acanthosis, Scaling skin |
OMIM:602723 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Ichthyosis With Confetti |
|
Hypoplastic nipples, Short stature, Scaling skin, Hypertrichosis |
OMIM:609165 |
Bathing Suit Ichthyosis |
|
Alopecia, Epidermal acanthosis, Palmoplantar scaling skin, Nail dystrophy, Scaling skin, Sparse hair |
ORPHA:100976 |
Palmoplantar Keratoderma, Nagashima Type |
|
Epidermal acanthosis |
OMIM:615598 |
Lupus Erythematosus Tumidus |
|
Scaling skin, Depigmentation/hyperpigmentation of skin |
ORPHA:90283 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Abnormal hair morphology, Erythema, Scaling skin, Abnormality of the nail |
OMIM:607602 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Short stature |
ORPHA:1355 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Verrucous Hemangioma |
|
Epidermal acanthosis |
ORPHA:464318 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Epidermal acanthosis, Sparse axillary hair, Sparse eyebrow, ... |
OMIM:613102 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Centrifugal Lipodystrophy |
|
Alopecia, Erythema, Scaling skin |
ORPHA:90156 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Oculocerebral Syndrome With Hypopigmentation |
|
Growth delay, Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Peeling Skin Syndrome 6 |
|
Dry skin, Scaling skin |
OMIM:618084 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Erythema, Epidermal acanthosis |
OMIM:617526 |
Familial Reactive Perforating Collagenosis |
|
Spotty hyperpigmentation, Abnormal epidermal morphology, Abnormal fingernail morphology |
ORPHA:79147 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Scaling skin |
OMIM:620148 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Ichthyosis Vulgaris |
|
Absent keratohyalin granules, Dry skin |
OMIM:146700 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Epidermal acanthosis, Acantholysis, Leukonychia, Onycholysis, Scaling skin, Dry skin |
OMIM:616295 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Facial erythema... |
ORPHA:1010 |
Bazex Syndrome |
|
Yellow nails, Nail dystrophy, Scaling skin, Lip hyperpigmentation |
ORPHA:166113 |
Aicardi-Goutieres Syndrome 5 |
|
Dry skin, Scaling skin |
OMIM:612952 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Woolly hair, Palmoplantar scaling skin,... |
OMIM:605676 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Growth delay, Erythema, Dry skin, Scaling skin |
OMIM:614457 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Scaling skin on fingertip, Epidermal acanthosis, Nail dystrophy, Onychogryposis |
ORPHA:79395 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Short stature, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scal... |
ORPHA:35173 |
Cutaneous Mastocytoma |
|
Erythema, Scaling skin, Hyperpigmentation of the skin, Hypermelanotic macule |
ORPHA:79455 |
Obesity And Hypopigmentation |
|
Red hair, Overgrowth |
OMIM:620195 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Dry skin, Epidermal acanthosis, Scaling skin |
OMIM:612281 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Short stature, Poliosis, Abnormal eyelash morphol... |
ORPHA:3437 |
Recon Progeroid Syndrome |
|
Short stature, Hyperconvex thumb nails, Absent lower eyelashes, Growth delay, Scaling skin, Dry s... |
OMIM:620370 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
White Sponge Nevus 2 |
|
Epidermal acanthosis |
OMIM:615785 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Singleton-Merten Syndrome 2 |
|
Psoriasiform lesion, Short stature |
OMIM:616298 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Epidermal acanthosis, White scaling skin |
OMIM:604777 |
Basan Syndrome |
|
Nail dystrophy, Epidermal acanthosis, Hypermelanotic macule |
OMIM:129200 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Elastosis Perforans Serpiginosa |
|
Epidermal acanthosis, Cutis laxa |
ORPHA:79148 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Psoriasiform lesion, Scaling skin |
ORPHA:284426 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Short stature, Iris hypopigmentation |
ORPHA:177910 |
Pemphigus Foliaceus |
|
Skin vesicle, Erythema, Scaling skin, Acantholysis |
ORPHA:79481 |
Atrophoderma Vermiculata |
|
Abnormal epidermal morphology, Erythema |
ORPHA:79100 |
Acute Radiation Syndrome |
|
Hypopigmentation of the skin, Scaling skin, Skin ulcer, Hyperpigmentation of the skin |
ORPHA:454831 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Epidermal acanthosis |
OMIM:618267 |
Acute Generalized Exanthematous Pustulosis |
|
Acantholysis, Scaling skin, Skin vesicle, Hyperpigmentation of the skin, Purpura |
ORPHA:293173 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Anonychia, Short stature, Nail dystrophy, Epidermal acanthosis |
OMIM:616029 |
Huriez Syndrome |
|
Epidermal acanthosis, Nail dystrophy, Small nail |
OMIM:181600 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock |
OMIM:601706 |
Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Erythema, Epidermal acanthosis, Leukonychia |
OMIM:617525 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Yellow nails, Onycholysis, Epidermal acanthosis, Nail dystrophy |
OMIM:148700 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Epidermal acanthosis, Alopecia totalis |
OMIM:300918 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Patchy alopecia, Reduced epidermal extracellular matrix protein 1 protein expression |
OMIM:247100 |
Mal De Meleda |
|
Erythema, Epidermal acanthosis |
ORPHA:87503 |
Epidermolytic Palmoplantar Keratoderma |
|
Abnormal fingernail morphology, Epidermal acanthosis |
ORPHA:2199 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Erythema, Horizontal eyebrow, Scaling skin, Slow-growing scalp hair, Chronic monilial nail infect... |
ORPHA:294023 |
Congenital Disorder Of Glycosylation, Type If |
|
Dry skin, Scaling skin |
OMIM:609180 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Short stature, Highly arched eyebrow, Sparse eyebrow, Sparse pubic hair, Frontal upsweep of hair,... |
OMIM:618419 |
Infantile Digital Fibromatosis |
|
Epidermal acanthosis |
ORPHA:199267 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Epidermal acanthosis, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:242300 |
Diffuse Cutaneous Mastocytosis |
|
Scaling skin, Mixed hypo- and hyperpigmentation of the skin |
ORPHA:79456 |
Vulvovaginal Gingival Syndrome |
|
Ridged nail, Erythema, Epidermal acanthosis |
ORPHA:83453 |
Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Epidermal acanthosis, Alopecia universalis |
OMIM:619208 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Ermine Phenotype |
|
Hypopigmentation of hair, Short stature, Ocular albinism, Hypopigmented skin patches, Irregular h... |
ORPHA:999 |
Acrokeratosis Verruciformis Of Hopf |
|
Epidermal acanthosis, Acantholysis, Leukonychia, Nail dystrophy, Anonychia |
ORPHA:79151 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Epidermal acanthosis, Thin nail, Short nail, Sparse eye... |
OMIM:257980 |
Chronic Actinic Dermatitis |
|
Progressive hyperpigmentation, Epidermal acanthosis, Hypopigmented skin patches |
ORPHA:330064 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Patchy alopecia, Scaling skin, Alopecia universalis |
OMIM:606367 |
Porphyria Cutanea Tarda |
|
Hirsutism, Scaling skin, Hypopigmentation of the skin, Hyperpigmentation of the skin, Hypertrichosis |
ORPHA:101330 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Epidermal acanthosis, Thin nail, Abnormal hair morphology, Erythema, Growth delay, Smal... |
OMIM:242100 |
Kid Syndrome |
|
Epidermal acanthosis, Sparse eyelashes, Postnatal growth retardation, Scarring alopecia of scalp,... |
ORPHA:477 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Short stature, Growth delay, Intrauterine growth retardation, Cafe-au-l... |
OMIM:618541 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Epidermal acanthosis |
OMIM:615022 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Short stature, Generalized hypopigmentation of ... |
ORPHA:3322 |
Mpdu1-Cdg |
|
Scaling skin |
ORPHA:79323 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Growth delay, Hypopigmentation of the skin, Red hair, Delayed puberty |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Growth delay, Hypopigmentation of the skin, Red hair, Delayed puberty |
ORPHA:71526 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Short stature, Nail dystrophy, Scaling skin, Sparse hair, Alopecia universalis |
ORPHA:158668 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Epidermal acanthosis |
OMIM:610227 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Epidermal acanthosis |
OMIM:148600 |
Immunodeficiency 58 |
|
Psoriasiform lesion, Short stature, Scaling skin |
OMIM:618131 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Epidermal acanthosis |
OMIM:133200 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Erythema, Epidermal acanthosis |
OMIM:613943 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Epidermal acanthosis |
OMIM:615735 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Abnormality of retinal pigmentation, Severe short stature, Abnormal eyelash morphol... |
ORPHA:2526 |
Ichthyosis Prematurity Syndrome |
|
Alopecia of scalp, Epidermal acanthosis, Hyperpigmentation of the skin |
OMIM:608649 |
Proteus Syndrome |
|
Epidermal acanthosis, Depigmentation/hyperpigmentation of skin |
OMIM:176920 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Psoriasiform lesion |
ORPHA:169154 |
Familial Benign Chronic Pemphigus |
|
Skin vesicle, Erythema, Acantholysis |
ORPHA:2841 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Long eyelashes, Epidermal acanthosis |
OMIM:616069 |
Classic Phenylketonuria |
|
Growth delay, Hypopigmentation of hair, Hypopigmentation of the skin, Lack of skin elasticity |
ORPHA:79254 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Short stature, Premature graying of hair, Delayed puberty, Multiple caf... |
ORPHA:100 |
Autosomal Recessive Spastic Paraplegia Type 23 |
|
Silver-gray hair, Short stature, Vitiligo, Multiple lentigines |
ORPHA:101003 |
Griscelli Syndrome Type 2 |
|
Hypopigmentation of hair, Partial albinism, Premature graying of hair, Petechiae, Iris hypopigmen... |
ORPHA:79477 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Blue irides, Red hair, Mild short stature, Fair hair, Intrauterine growth retardation |
OMIM:614613 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Riddle Syndrome |
|
Erythema, Short stature, Scaling skin |
ORPHA:420741 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Growth delay, Psoriasiform lesion, Vitiligo |
OMIM:614700 |
Subacute Cutaneous Lupus Erythematosus |
|
Psoriasiform lesion |
ORPHA:163525 |
Graft Versus Host Disease |
|
Scaling skin |
ORPHA:39812 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Perianal erythema, Short stature, Sparse scal... |
OMIM:308205 |
Bacterial Toxic-Shock Syndrome |
|
Ecchymosis, Scaling skin |
ORPHA:36234 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Epidermal acanthosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair, Dry skin |
OMIM:607626 |
Squalene Synthase Deficiency |
|
Intrauterine growth retardation, Dry skin, Abnormality of hair pigmentation |
OMIM:618156 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal epidermal morphology |
ORPHA:398189 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Growth delay, Scaling skin, Delayed puberty, Aplasia/Hypoplasia of the eyebrow |
ORPHA:3464 |
Brittle Cornea Syndrome 1 |
|
Palmoplantar cutis laxa, Disproportionate tall stature, Red hair |
OMIM:229200 |
Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Onychol... |
OMIM:601214 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Freckling, Albinism, Ocular albinism, Me... |
OMIM:203300 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis |
OMIM:609638 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Restrictive Dermopathy |
|
Short nail, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Sparse or absent eye... |
ORPHA:1662 |
Psoriasis 14, Pustular |
|
Erythema, Epidermal acanthosis, Nail dystrophy |
OMIM:614204 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Medial flaring of the eyebrow, Sparse scalp hair, Thick eyebrow, Few cafe-au-lait spots, Curly ha... |
OMIM:619503 |
Superficial Epidermolytic Ichthyosis |
|
Erythema, Acantholysis |
ORPHA:455 |
Restrictive Dermopathy 1 |
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Sparse eyelashes, Short nail, Absent eyelashes, Sparse eyebrow, Scaling skin, Intrauterine growth... |
OMIM:275210 |
Hypohidrotic Ectodermal Dysplasia |
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Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... |
ORPHA:238468 |
Carney Complex, Type 1 |
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Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Parkes Weber Syndrome |
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Scaling skin, Skin ulcer |
ORPHA:90307 |
Waardenburg Syndrome, Type 4C |
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White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
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Hypopigmentation of hair |
ORPHA:70472 |
Palmoplantar Carcinoma, Multiple Self-Healing |
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Epidermal acanthosis, Nail dystrophy |
OMIM:615225 |
Rat-Bite Fever |
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Scaling skin |
ORPHA:31205 |
Acrokeratoelastoidosis Of Costa |
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Epidermal acanthosis |
ORPHA:38 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
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Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... |
ORPHA:3214 |
Darier-White Disease |
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Ridged nail, Hypermelanotic macule, Subungual hyperkeratotic fragments, Acantholysis |
OMIM:124200 |
Autoinflammation With Arthritis And Dyskeratosis |
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Growth delay, Dry skin, Epidermal acanthosis |
OMIM:617388 |
Muenke Syndrome |
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Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
Cole Disease |
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Epidermal acanthosis |
OMIM:615522 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
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Onycholysis, Psoriasiform lesion, Nail pits |
ORPHA:85436 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
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Epidermal acanthosis |
OMIM:615023 |
Syndromic Diarrhea |
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Hypopigmentation of hair, Brittle hair, Short stature, Woolly hair, Cafe-au-lait spot, Uncombable... |
ORPHA:84064 |
Koolen-De Vries Syndrome |
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Hypopigmentation of hair, Dry skin, Short stature, Abnormality of hair texture |
ORPHA:96169 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
Punctate Palmoplantar Keratoderma Type 1 |
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Abnormal epidermal morphology, Epidermal acanthosis, Nail dystrophy |
ORPHA:79501 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
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Dry skin, Epidermal acanthosis |
OMIM:618527 |
Angelman Syndrome Due To A Point Mutation |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411511 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
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Alopecia, Short stature, Epidermal acanthosis, Erythema, Mild intrauterine growth retardation, Sm... |
OMIM:308050 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Hypopigmentation of hair, Short stature, Ocular albinism, Growth delay, Iris hypopigmentation |
ORPHA:2719 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Red hair |
OMIM:609734 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Dry hair, Hypopigmentation of hair, Short stature, Widow's peak, Coarse hair |
ORPHA:1974 |
Prader-Willi Syndrome |
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Hypopigmentation of hair, Short stature, Iris hypopigmentation, Frontal upsweep of hair, Delayed ... |
OMIM:176270 |
Chediak-Higashi Syndrome |
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Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... |
OMIM:214500 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98794 |
Pseudoxanthoma Elasticum |
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Civatte bodies, Cutis laxa |
OMIM:264800 |
Prader-Willi Syndrome Due To Translocation |
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Hypopigmentation of hair, Short stature, Intrauterine growth retardation, Stellate iris, Hypopigm... |
ORPHA:177907 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Hypopigmentation of hair, Short stature, Delayed puberty, Hypopigmentation of the skin, Iris hypo... |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Hypopigmentation of hair, Short stature, Delayed puberty, Hypopigmentation of the skin, Iris hypo... |
ORPHA:98793 |
Hermansky-Pudlak Syndrome |
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Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Long eyelashes, H... |
ORPHA:79430 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Hypopigmentation of hair, Short stature, Delayed puberty, Hypopigmentation of the skin, Iris hypo... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Hypopigmentation of hair, Short stature, Delayed puberty, Hypopigmentation of the skin, Iris hypo... |
ORPHA:177901 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
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Epidermal acanthosis |
OMIM:612852 |
Magel2-Related Prader-Willi-Like Syndrome |
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Hypopigmentation of the skin, Hypopigmentation of hair, Short stature |
ORPHA:398069 |
Menkes Disease |
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Hypopigmentation of hair, Woolly hair, Sparse hair, Intrauterine growth retardation, Dry skin |
ORPHA:565 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... |
ORPHA:163746 |
Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation |
ORPHA:90354 |
Prader-Willi Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Short stature |
ORPHA:739 |
Vici Syndrome |
|
Hypopigmentation of hair, Albinism, Postnatal growth retardation, Ocular albinism, Hypopigmentati... |
OMIM:242840 |
Sim1-Related Prader-Willi-Like Syndrome |
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Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398079 |
Degcags Syndrome |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Synophrys, Lo... |
OMIM:619488 |
Chédiak-Higashi Syndrome |
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Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... |
ORPHA:167 |
Smith-Lemli-Opitz Syndrome |
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Hypopigmentation of hair, Rhizomelia, Short stature, Abnormal eyelash morphology, Growth delay, I... |
ORPHA:818 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Postnatal growth retardation, Intrauterine growth retardation, Coarse hair, Epidermal acanthosis |
ORPHA:83617 |
Cystinosis, Nephropathic |
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Hypopigmentation of hair, Short stature, Retinal pigment epithelial mottling, Growth delay, Pigme... |
OMIM:219800 |