Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratos... |
ORPHA:505 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Absent facial hair, Allergic rhini... |
ORPHA:90368 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey... |
OMIM:601952 |
Keratosis, Focal Palmoplantar And Gingival |
|
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... |
OMIM:148730 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Posterior blepharitis, Palmoplantar hy... |
OMIM:300918 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Generalized hirsutism |
ORPHA:2297 |
Olmsted Syndrome 2 |
|
Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke... |
OMIM:619208 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Alopecia, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform eryt... |
OMIM:242300 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Parakeratosis, Alopecia, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyp... |
ORPHA:79395 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Ridged nail, Acrokeratosis |
OMIM:101900 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, I... |
ORPHA:79503 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera... |
ORPHA:2722 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Anonychia With Flexural Pigmentation |
|
Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis, Anonychia |
ORPHA:69125 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... |
OMIM:614594 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Porokeratosis Plantaris Palmaris Et Disseminata |
|
Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis, Pruritus |
ORPHA:737 |
Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis, Nail dystrophy |
OMIM:175900 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Plantar hyperkeratosis, Nail dystrophy, Pruritus |
OMIM:616487 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis, Porokeratosis |
ORPHA:735 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, I... |
OMIM:615821 |
Congenital Panfollicular Nevus |
|
Pruritus, Hyperkeratosis |
ORPHA:139414 |
Bathing Suit Ichthyosis |
|
Parakeratosis, Alopecia, Thickened skin, Erythroderma, Palmoplantar hyperkeratosis, Nail dystroph... |
ORPHA:100976 |
Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... |
ORPHA:189 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin, Generalized hirsutism |
ORPHA:2812 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa... |
OMIM:617294 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis |
OMIM:602723 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Abnormal hair morphology, Hyperparakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital... |
OMIM:607602 |
Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis, Nail dystrophy |
OMIM:131850 |
Bazex Syndrome |
|
Parakeratosis, Yellow nails, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, ... |
ORPHA:166113 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair |
OMIM:300652 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:173200 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ... |
ORPHA:79151 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
Ulerythema Ophryogenesis |
|
Acne, Miscarriage, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermatitis, Sparse l... |
ORPHA:3406 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Eosinophilic i... |
OMIM:615508 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... |
OMIM:602540 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Abnormal fingernail morphology, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosi... |
ORPHA:89838 |
Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Nail dystrophy |
OMIM:614204 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Nail dysplasia, Sc... |
OMIM:212360 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Netherton Syndrome |
|
Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infections, Brittle scalp hair, Ec... |
OMIM:256500 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... |
OMIM:618546 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Vulvovaginal Gingival Syndrome |
|
Ridged nail, Parakeratosis, Pruritus |
ORPHA:83453 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... |
OMIM:158000 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Peeling Skin Syndrome 6 |
|
Orthokeratosis, Parakeratosis, Atopic dermatitis, Pruritus |
OMIM:618084 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu... |
OMIM:612281 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Pruritus, Parakeratosis, Nail dystrophy, Palmoplantar hyperkeratosis |
ORPHA:158681 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Pruritis on hand, Pruritis on bre... |
ORPHA:64745 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr... |
OMIM:604777 |
Moynahan Syndrome |
|
Sparse hair, Hyperkeratosis, Alopecia |
ORPHA:2574 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Hyperkeratotic papule |
ORPHA:464318 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Pruritus, Follicular hyperkeratosis, Sparse hair,... |
OMIM:607903 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis |
OMIM:618339 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... |
OMIM:104100 |
White Sponge Nevus 2 |
|
Hyperparakeratosis |
OMIM:615785 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Recurrent otitis media, Nail dystrop... |
OMIM:618625 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis |
ORPHA:79399 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Kerion Celsi |
|
Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Alopecia, Recurrent ... |
ORPHA:499 |
Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis, Alopecia, Alopecia of scalp |
OMIM:260910 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Abnormal fingernail morphology, Maculopap... |
ORPHA:79147 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Pruritus, Sclerosing chola... |
OMIM:607626 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Plantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Hyperker... |
ORPHA:79397 |
Aquagenic Palmoplantar Keratoderma |
|
Orthokeratotic hyperkeratosis, Palmar pruritus, Palmoplantar keratoderma, Atopic dermatitis |
ORPHA:498359 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Thickened skin, Patchy alopecia |
OMIM:247100 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Chronic rhinitis |
OMIM:615225 |
Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi... |
OMIM:224750 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Generalized keratosis follicula... |
ORPHA:2890 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617526 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... |
ORPHA:284426 |
Epidermolytic Palmoplantar Keratoderma |
|
Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar h... |
ORPHA:2199 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Abnormal toenail mor... |
ORPHA:494 |
Focal Palmoplantar And Gingival Keratoderma |
|
Subungual hyperkeratosis, Abnormal fingernail morphology, Focal friction-related palmoplantar hyp... |
ORPHA:2200 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... |
ORPHA:79481 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform eryt... |
OMIM:617571 |
Kid Syndrome |
|
Angular cheilitis, Scarring alopecia of scalp, Posterior blepharitis, Recurrent cutaneous fungal ... |
ORPHA:477 |
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome |
|
Psoriasiform dermatitis, Ichthyosis |
ORPHA:3052 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Pruritus, Hyperkerat... |
OMIM:602400 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Erythrokeratodermia Variabilis |
|
Alopecia, Skin rash, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Generalized hi... |
ORPHA:317 |
Psoriasis 1, Susceptibility To |
|
Psoriasiform dermatitis, Nail pits, Arthritis, Onycholysis, Onychomadesis |
OMIM:177900 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmop... |
OMIM:148700 |
Candidiasis, Familial, 1 |
|
Alopecia, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Acquired Ichthyosis |
|
Recurrent skin infections, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis |
ORPHA:454 |
Flynn-Aird Syndrome |
|
Hyperkeratosis, Alopecia, Alopecia of scalp |
OMIM:136300 |
Classic Mycosis Fungoides |
|
Alopecia, Skin rash, Eczema, Pruritus, Hyperkeratosis, Abnormality of the nail |
ORPHA:2584 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair, Onychogryposis of fingerna... |
ORPHA:2251 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop... |
ORPHA:79153 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa... |
OMIM:129500 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
Congenital Ichthyosiform Erythroderma |
|
Alopecia, Keratitis, Pruritus, Erythroderma, Palmoplantar keratoderma, Ichthyosis, Abnormality of... |
ORPHA:79394 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti |
ORPHA:1573 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Hyperkeratosis, Abnormal toenail morphology, Nail dystrophy |
ORPHA:89843 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosifor... |
OMIM:613576 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pruritus, Thickened skin, Pustule, Erythroderma, Palmoplantar k... |
ORPHA:2897 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Pruritus, Hepatitis, Hyperkeratosis, Onycholysis |
ORPHA:525 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Psoriasiform dermatitis, Eczema |
OMIM:617443 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratod... |
ORPHA:312 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Hyperkeratosis, Pruritis on ... |
ORPHA:90280 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma |
OMIM:133200 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Angular cheilitis, Sparse axillary hair, Sparse eyebrow, Leu... |
OMIM:613102 |
Ichthyosis Prematurity Syndrome |
|
Allergic rhinitis, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma, Alo... |
OMIM:608649 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Folliculitis, ... |
OMIM:612843 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Peeling Skin Syndrome 4 |
|
Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Orthokeratosis |
OMIM:607936 |
Neonatal Lupus Erythematosus |
|
Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash |
ORPHA:398124 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Eczema, Scarring alopecia of scalp, Hypoplastic sweat glands, Nail dyst... |
OMIM:617337 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia totalis, Acantholysis, Absent fingernail, Neonatal death, Anonychia, Alopecia universalis |
OMIM:609638 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Psoriasis 15, Pustular, Susceptibility To |
|
Psoriasiform dermatitis, Nail dystrophy |
OMIM:616106 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Acanthosis nigricans, Hyperkeratosis, Parakeratosis, Ichthyosis |
OMIM:618527 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Psoriasiform dermatitis, Blepharitis, Ichthyosis |
OMIM:616834 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Folliculitis, Palmoplant... |
OMIM:308800 |
Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia univers... |
ORPHA:1008 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Thin nail, Hypergranulosis, Abnormal hair morphology, Hyperkeratosis, Congenital ichthy... |
OMIM:242100 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail, Death in childhood |
OMIM:302000 |
Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Psoriasiform dermatitis, Alopecia totalis, Recurrent pneumonia, Recurrent sinusiti... |
OMIM:615577 |
Darier Disease |
|
Acrokeratosis, Abnormal hair morphology, Thickened skin, Pruritus, Palmoplantar keratoderma, Abno... |
ORPHA:218 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails |
OMIM:226650 |
Lamellar Ichthyosis |
|
Pruritus, Chronic otitis media, Erythroderma, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormalit... |
ORPHA:313 |
Pachyonychia Congenita |
|
Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyp... |
ORPHA:2309 |
Quinquaud Folliculitis Decalvans |
|
Recurrent skin infections, Abnormal hair morphology, Scarring alopecia of scalp, Pustule, Patchy ... |
ORPHA:346 |
Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis, Osteomyelitis |
OMIM:615632 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in early adulthood, Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar ... |
OMIM:605676 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Lichen Planus Pemphigoides |
|
Pruritus, Hyperkeratosis, Conjunctivitis, Blepharitis, Abnormality of the nail |
ORPHA:254478 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Pachyonychia Congenita 1 |
|
Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis |
OMIM:167200 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Atrophoderma Vermiculata |
|
Pruritus, Hyperkeratotic papule, Follicular hyperkeratosis |
ORPHA:79100 |
L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Hyperkeratosis, Coarse hair, Brittle hair |
ORPHA:1883 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Leuko... |
OMIM:616295 |
Chromomycosis |
|
Pruritus, Keratitis, Hyperparakeratosis, Hyperkeratosis, Keratoconjunctivitis sicca, Hyperkeratot... |
ORPHA:182 |
Lipoid Proteinosis |
|
Acne, Pustule, Thickened skin, Hyperkeratosis, Alopecia of scalp |
ORPHA:530 |
Mycosis Fungoides |
|
Pruritus, Psoriasiform dermatitis, Eczema |
OMIM:254400 |
Porphyria Cutanea Tarda |
|
Facial hypertrichosis, Scleroderma, Alopecia, Onycholysis |
OMIM:176100 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Eczema, Erythroderma, Thyroiditis, Patchy alopecia, Chronic oral candidi... |
OMIM:606367 |
Superficial Epidermolytic Ichthyosis |
|
Ichthyosis, Palmoplantar keratoderma, Thin skin, Acantholysis |
ORPHA:455 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis |
OMIM:613943 |
Lymphatic Malformation 4 |
|
Hyperkeratosis, Toenail dysplasia |
OMIM:615907 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Pruritus, Arthritis, Inflammation of the... |
ORPHA:324964 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ... |
OMIM:615023 |
Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Hyperkeratosis, Alopecia, Fine hair |
ORPHA:1839 |
Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
Congenital Disorder Of Glycosylation, Type Im |
|
Death in infancy, Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebro... |
OMIM:610768 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Generalized ichthyosis, Absent ax... |
ORPHA:2269 |
Cole Disease |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... |
OMIM:615522 |
Ramon Syndrome |
|
Hyperkeratosis, Generalized hirsutism |
ORPHA:3019 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Alopecia, Myositis, Psoriasiform dermatitis, Eczema, Pneumonia, Osteomyelitis, Recurrent skin inf... |
ORPHA:37042 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Darier-White Disease |
|
Ridged nail, Acrokeratosis, Acantholysis, Pruritus, Subungual hyperkeratotic fragments |
OMIM:124200 |
Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis |
ORPHA:461 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Parakeratosis, Alopecia, Hyperkeratosis, Congenital ichthyosiform erythroderma, Stillbirth, Small... |
OMIM:308050 |
Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Palmoplantar keratoderma |
OMIM:146590 |
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Leukonychia, Palmoplantar keratoderma, Palmoplantar hyperkeratosis |
ORPHA:2698 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Bronchiectasis, Chronic rhinitis,... |
ORPHA:168569 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Palmoplantar keratoderma, Alopecia totalis |
ORPHA:1366 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Comedonal acne, Follicular hyperkeratosis |
OMIM:615147 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno... |
ORPHA:129 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Bronchiectasis, Atopic dermatitis... |
ORPHA:436159 |
Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Hyperkeratosis lenticularis perstans |
ORPHA:409 |
Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Crusting erythematous dermatitis |
ORPHA:79148 |
Mental Retardation And Psoriasis |
|
Psoriasiform dermatitis |
OMIM:309480 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... |
ORPHA:183675 |
Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis, Curly hair, Webbed neck |
OMIM:615279 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
Transgrediens Et Progrediens Palmoplantar Keratoderma |
|
Recurrent bacterial skin infections, Plantar hyperkeratosis, Hyperconvex nail, Angular cheilitis,... |
ORPHA:495 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema |
ORPHA:703 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis, Anonychia, Palmoplantar keratoderma, Nail dystrophy |
OMIM:616029 |
Leopard Syndrome 3 |
|
Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Webbed neck |
OMIM:613707 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia, Erythroderma, Ichthyosis |
OMIM:618840 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Eczema, Pruritus, Palmoplantar keratoderm... |
OMIM:618535 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Hyperkeratosis, Aplasia/Hypoplasia ... |
ORPHA:238468 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Hyperkeratosis, Eczema, Hypertrichosis, Ichthyosis |
OMIM:612379 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis |
ORPHA:1028 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Ichthyosis, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2850 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Acne, Hirsutism |
OMIM:604931 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Bronchiectasis, Arthritis, Crohn's disease |
OMIM:616100 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Psoriasiform dermatitis, Thickened skin, Hepatitis, Nail dystrophy, Sparse hair, ... |
ORPHA:436252 |
Immunodeficiency 49 |
|
Psoriasiform dermatitis, Hirsutism |
OMIM:617237 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Horizontal ey... |
ORPHA:294023 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Erythroderma, Palmoplantar keratoderma, Conjunctivitis, Ichthyosis, Sparse hair, Fragil... |
OMIM:242150 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:620148 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Abs... |
OMIM:148210 |
Sjögren-Larsson Syndrome |
|
Hyperkeratosis, Inflammatory abnormality of the eye, Ichthyosis |
ORPHA:816 |
Acrokeratoelastoidosis Of Costa |
|
Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis |
ORPHA:38 |
Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Brittle hair, Trichoschisis, Erythroderma, Fine hair, Hyperkeratosis, Fragile n... |
OMIM:601675 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
Sézary Syndrome |
|
Alopecia, Pruritus, Palmoplantar keratoderma, Nail dystrophy, Erythroderma |
ORPHA:3162 |
Dowling-Degos Disease |
|
Abnormal fingernail morphology, Pruritus, Hyperkeratosis, Arthritis, Hyperkeratotic papule, Acne ... |
ORPHA:79145 |
Oliver-Mcfarlane Syndrome |
|
Sparse hair, Alopecia, Long eyelashes, Long eyebrows |
OMIM:275400 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Acantholysis |
ORPHA:704 |
Pachyonychia Congenita 2 |
|
Subungual hyperkeratosis, Dry hair, Sparse scalp hair, Angular cheilitis, Sparse eyebrow, Palmopl... |
OMIM:167210 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Psoriasiform dermatitis, Alopecia totalis, Recurrent pneumonia, Bronchiectasis, Thyroid... |
ORPHA:293978 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia, Ichthyosis |
OMIM:242510 |
Lig4 Syndrome |
|
Psoriasiform dermatitis, Low anterior hairline, Chronic sinusitis |
OMIM:606593 |
Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker... |
OMIM:601214 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
Prolidase Deficiency |
|
Abnormal fingernail morphology, Pruritus, Crusting erythematous dermatitis, Low anterior hairline... |
ORPHA:742 |
Harlequin Ichthyosis |
|
Hyperkeratosis, Congenital ichthyosiform erythroderma, Erythroderma, Ichthyosis |
ORPHA:457 |
Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Recurrent pneumonia, Bronch... |
OMIM:618282 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Plantar hyperkeratosis, Dry hair, Thin nail, Hypergranulosis, Sho... |
OMIM:257980 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Syno... |
ORPHA:793 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair |
ORPHA:2985 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Pruritus, Iridocyclitis, Oligoarthritis, Uv... |
ORPHA:85436 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... |
ORPHA:2325 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Ichth... |
OMIM:606545 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Recurrent sinusitis |
OMIM:617765 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail d... |
OMIM:615726 |
Lymphatic Malformation 12 |
|
Neonatal death, Hyperkeratosis, Death in adolescence |
OMIM:620014 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Familial Benign Chronic Pemphigus |
|
Hyperkeratosis, Acantholysis |
ORPHA:2841 |
Noonan Syndrome 8 |
|
Hyperkeratosis, Curly hair, Eczema, Webbed neck |
OMIM:615355 |
Proteus Syndrome |
|
Hyperkeratosis |
OMIM:176920 |
Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis, Sparse scalp hair |
ORPHA:2611 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis... |
OMIM:158310 |
Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Skin rash, Sparse eyebrow, Recurrent pneumonia, Low posterior hairline, H... |
OMIM:604173 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Psoriasiform dermatitis, Low posterior hairline, Arthritis, Chronic oral candidiasis, Recurrent a... |
ORPHA:221139 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Acantholysis, Pruritus, Pustule, Ulcerative colitis, Cutan... |
ORPHA:555905 |
Irida Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:209981 |
Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
Warty Dyskeratoma |
|
Abnormal fingernail morphology, Acrokeratosis, Epidermal thickening, Acantholysis |
ORPHA:69745 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Chronic Mucocutaneous Candidiasis |
|
Abnormal fingernail morphology, Skin rash, Pruritus, Broad nail, Hepatitis, Cheilitis, Hyperkerat... |
ORPHA:1334 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Death in infancy, Psoriasiform dermatitis, Enterocolitis, Interface hepatitis, Death in childhood |
OMIM:243150 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Sparse hair, Alope... |
OMIM:604536 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Follicular hyperkeratosis |
ORPHA:300179 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Death in childhood, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis |
OMIM:614457 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo... |
ORPHA:158687 |
Milroy Disease |
|
Hyperkeratosis, Erysipelas, Toenail dysplasia |
ORPHA:79452 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormal fingernail morphology, Fine hair, Hyperkeratosis, Keratoconjunctivitis sicca, Sparse hair |
ORPHA:1806 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Sparse hair, Alopecia, Long eyelashes |
ORPHA:3363 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Maculopapular exanthema, Supernumerary nipple, Keratitis, Nail pits, Fine ... |
OMIM:308300 |
De Sanctis-Cacchione Syndrome |
|
Keratitis, Parakeratosis, Conjunctivitis |
OMIM:278800 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Erysipelas |
OMIM:615704 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail |
ORPHA:1882 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
Subacute Cutaneous Lupus Erythematosus |
|
Discoid lupus rash, Hyperkeratosis, Malar rash, Cheilitis |
ORPHA:163525 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Recurrent pneumonia, Bronchiectasis, Hyperkeratosis, Colitis, Frontal upsweep of hair, Broad eyebrow |
OMIM:301220 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Thickened skin, Palmoplantar keratoderma, Sparse hair |
ORPHA:659 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Membranoproliferative glomerulonep... |
OMIM:137940 |
Limb-Mammary Syndrome |
|
Alopecia, Absent nipple, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Sparse eyebr... |
ORPHA:69085 |
Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Albinism |
ORPHA:79431 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia of scalp, Alopecia, Palmoplantar keratoderma, Nail dystrophy |
OMIM:618373 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermat... |
ORPHA:83617 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormal toenail morphology |
ORPHA:1005 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis |
ORPHA:281090 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Rec... |
OMIM:616576 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Eczema, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Long eyelashes, ... |
ORPHA:3051 |
Systemic Lupus Erythematosus 17 |
|
Alopecia, Malar rash, Optic neuritis, Myelitis |
OMIM:301080 |
Pemphigus Erythematosus |
|
Malar rash, Acantholysis |
ORPHA:79480 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hyperparakeratosis, Seborrheic dermatitis |
ORPHA:276280 |
Spinocerebellar Ataxia Type 42 |
|
Psoriasiform dermatitis |
ORPHA:458803 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Sparse body hair, Ichthyosis |
ORPHA:177 |
Congenital Disorder Of Glycosylation, Type If |
|
Hyperkeratosis, Death in infancy, Erythroderma |
OMIM:609180 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Dystrophic toenail, Nail... |
ORPHA:3253 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail |
ORPHA:28378 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
ORPHA:337 |
Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... |
OMIM:129400 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia, Ichthyosis |
OMIM:215100 |
Costello Syndrome |
|
Deep-set nails, Abnormal fingernail morphology, Concave nail, Hypoplastic toenails, Abnormal hair... |
ORPHA:3071 |
Intermediate Uveitis |
|
Anterior uveitis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Optic neuritis |
ORPHA:279914 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Spinocerebellar Ataxia 34 |
|
Erythroderma, Epidermal hyperkeratosis |
OMIM:133190 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:848 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Omenn Syndrome |
|
Alopecia, Pneumonia, Pruritus, Thickened skin, Thyroiditis, Erythroderma, Aplasia/Hypoplasia of t... |
ORPHA:39041 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Palmoplantar ke... |
ORPHA:158668 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Abnormal fingernail morphology, Pruritus, Gastrointestinal inflammation, Anonychia, Palmoplantar ... |
ORPHA:79410 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis |
ORPHA:79279 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Cheilitis, Eosinop... |
ORPHA:293173 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Hyperkeratosis with erythema, Coarse hair |
OMIM:118650 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis, Osteomyelitis |
ORPHA:36386 |
Bresek Syndrome |
|
Neonatal death, Alopecia, Ichthyosis |
ORPHA:85284 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Pustule, Enthesitis, Hyperkeratosis, Inflammation of the large intes... |
ORPHA:29207 |
Donohue Syndrome |
|
Acanthosis nigricans, Hyperkeratosis, Nail dysplasia, Hypertrichosis |
OMIM:246200 |
Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Follicular hyperkeratosis |
OMIM:617066 |
Igg4-Related Retroperitoneal Fibrosis |
|
Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Membranous nephropathy... |
ORPHA:49041 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Cronkhite-Canada Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec... |
ORPHA:2930 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteomyelitis, Skin rash, Pustule, Hyperkeratosis, Stomatitis |
OMIM:612852 |
Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... |
OMIM:262000 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, T... |
OMIM:607823 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Small nail, Sclerodactyly |
OMIM:610644 |
Familial Keratoacanthoma |
|
Hyperkeratosis |
ORPHA:493 |
Zinc Deficiency, Transient Neonatal |
|
Alopecia, Eczema |
OMIM:608118 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hyperkeratosis, Death in infancy |
ORPHA:163966 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Recurrent p... |
ORPHA:47 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Alopecia |
OMIM:203550 |
Incontinentia Pigmenti |
|
Alopecia, Abnormal fingernail morphology, Skin rash, Supernumerary nipple, Abnormal hair morpholo... |
ORPHA:464 |
Hypotrichosis 2 |
|
Sparse scalp hair |
OMIM:146520 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, Pneumonia, Nail dystrophy, Atrichia |
ORPHA:1867 |
Acute Radiation Syndrome |
|
Hyperkeratosis, Inflammatory abnormality of the skin, Interstitial pneumonitis |
ORPHA:454831 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Follicular hyperkeratosis |
ORPHA:486815 |
Chanarin-Dorfman Syndrome |
|
Alopecia, Congenital nonbullous ichthyosiform erythroderma |
OMIM:275630 |
Werner Syndrome |
|
Sparse scalp hair, Miscarriage, Abnormal hair whorl, Premature graying of hair, Hyperkeratosis, W... |
ORPHA:902 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Low posterior hairline, Fine hair, ... |
ORPHA:1340 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Thyroiditis, Uveitis, Palmoplantar hyperkeratosis, Keratoconjunctivitis sicca, Follicular hyperke... |
OMIM:617388 |
Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Trichiasis, Hyperkeratosis, Nail dysplasia, Trichodysplasia |
OMIM:601701 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Palmoplantar keratode... |
OMIM:106260 |
Centrifugal Lipodystrophy |
|
Inflammatory abnormality of the skin, Lymphadenitis, Alopecia |
ORPHA:90156 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis |
OMIM:616298 |
Hypomelanosis Of Ito |
|
Alopecia |
OMIM:300337 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Subungual hyperkeratosis, Alopecia, Absent eyebrow, Sparse scalp hair, E... |
OMIM:308205 |
Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Alopecia, Eczema, Keratoconjunctivitis |
ORPHA:79242 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Orthokera... |
ORPHA:79501 |
Alpha-Heavy Chain Disease |
|
Alopecia |
ORPHA:100025 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Eczema, Webbed neck, Hyperkeratosis, Loose anagen hair, Long eyela... |
OMIM:607721 |
Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair, Death in childhood |
OMIM:309400 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow |
OMIM:614564 |
Macs Syndrome |
|
Alopecia, Sparse eyebrow, Bronchiectasis, Recurrent aphthous stomatitis, Ichthyosis, Sparse hair,... |
OMIM:613075 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Thin eyebrow |
ORPHA:3242 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hyperkeratosis, Inflammation of the large intestine, Death in infancy |
OMIM:614576 |
Mycetoma |
|
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Osteomyelitis |
ORPHA:2583 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Alopecia, Arthritis, Membranous nephropathy, Recurrent sinusitis, Recurrent otitis media |
OMIM:615559 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... |
ORPHA:978 |
Rothmund-Thomson Syndrome |
|
Plantar hyperkeratosis, Porokeratosis, Sparse eyelashes, Alopecia totalis, Skin rash, Sparse eyeb... |
ORPHA:2909 |
Mandibuloacral Dysplasia |
|
Alopecia, Sparse hair, Thin skin, Acanthosis nigricans, Hypoplastic fingernail |
ORPHA:2457 |
Sialidosis Type 1 |
|
Hyperkeratosis |
ORPHA:812 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair |
ORPHA:69735 |
Mixed Connective Tissue Disease |
|
Alopecia, Pericarditis, Myositis, Skin rash, Gastritis, Myocarditis, Arthritis, Keratoconjunctivi... |
ORPHA:809 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
Bone Marrow Failure Syndrome 3 |
|
Eczema, Hyperkeratosis, Nail dystrophy, Small nail, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
OMIM:617052 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Atopic dermatitis, Low posterior... |
OMIM:115150 |
Ramon Syndrome |
|
Hyperkeratosis, Juvenile rheumatoid arthritis, Hypertrichosis |
OMIM:266270 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Acne, Hirsutism |
OMIM:615830 |
Omenn Syndrome |
|
Thickened skin, Alopecia, Pneumonia, Erythroderma |
OMIM:603554 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair |
ORPHA:50812 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma |
OMIM:304790 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia |
ORPHA:88630 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Fragile nails, Small nail, Recurrent otitis media, Pili torti, Trichorrhexis nodosa, Sp... |
OMIM:261990 |
Oculocerebrocutaneous Syndrome |
|
Alopecia |
OMIM:164180 |
Meige Disease |
|
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Recurrent skin infections |
ORPHA:90186 |
Monosomy 18P |
|
Webbed neck, Alopecia, Low posterior hairline |
ORPHA:1598 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Pustule, Paronychia, Cheilitis, Conjunctiviti... |
ORPHA:37 |
Noonan Syndrome 10 |
|
Sparse eyebrow, Hyperkeratosis, Curly hair, Webbed neck |
OMIM:616564 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Aplasia/Hypoplasia of the optic nerve, Hb... |
ORPHA:423479 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Coarse hair, Brittle hair, Nail dystrophy |
ORPHA:75389 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Alopecia, Chronic active hepatitis, Atrophic gastritis, Iridocyclitis, Chronic mucocutaneous cand... |
OMIM:240300 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Small nail, Ichthyosis |
ORPHA:166035 |
Hemifacial Atrophy, Progressive |
|
Patchy alopecia, Poliosis |
OMIM:141300 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Kury-Isidor Syndrome |
|
Recurrent otitis media, Alopecia, Hypertrichosis |
OMIM:619762 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Premature Aging Syndrome, Penttinen Type |
|
Thickened skin, Palmoplantar hyperkeratosis, Hyperkeratosis, Thin skin, Sparse hair |
OMIM:601812 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Low anterior hairline, Small nail |
OMIM:614219 |
Satoyoshi Syndrome |
|
Alopecia, Alopecia universalis |
OMIM:600705 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Hyperkeratosis, Pilomatrixoma |
OMIM:620189 |
Eec Syndrome |
|
Slow-growing hair, Sparse eyebrow, Keratitis, Nail pits, Fine hair, Inflammatory abnormality of t... |
ORPHA:1896 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Erythroderma... |
ORPHA:35173 |
Keutel Syndrome |
|
Recurrent otitis media, Alopecia, Recurrent sinusitis |
ORPHA:85202 |
Gaucher Disease, Perinatal Lethal |
|
Neonatal death, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis |
OMIM:608013 |
Alstrom Syndrome |
|
Alopecia, Chronic active hepatitis, Recurrent pneumonia, Tubulointerstitial nephritis, Otitis med... |
OMIM:203800 |
Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia, Hashimoto thyroiditis |
ORPHA:3143 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Recurrent skin infections, Palmoplantar keratoderma, Nail dystrophy, Onychogryposis |
ORPHA:79396 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Hyperkeratosis, High anterior hairline |
OMIM:615510 |
Pediatric Systemic Lupus Erythematosus |
|
Alopecia, Myositis, Skin rash, Discoid lupus rash, Arthritis, Malar rash, Nephritis |
ORPHA:93552 |
Fucosidosis |
|
Generalized hyperkeratosis, Abnormality of the nail |
ORPHA:349 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Absent eyebrow, Alopecia, Thin fingernail, Eczema, Abnormal eyelash morphology, Abn... |
ORPHA:2273 |
Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Abnormal fingernail morphology, Chronic mucocutaneous candidiasis |
ORPHA:3453 |
Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Abnormal eyelash morpholog... |
ORPHA:1775 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia |
OMIM:612079 |
Flynn-Aird Syndrome |
|
Alopecia |
ORPHA:2047 |
Johnson Neuroectodermal Syndrome |
|
Sparse hair, Absent eyebrow, Alopecia, Absent eyelashes |
ORPHA:2316 |
Leprosy |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Uveitis, Hyperkeratosis, Iritis, Sparse body hair |
ORPHA:548 |
Xeroderma Pigmentosum |
|
Alopecia, Keratitis, Thickened skin, Hyperkeratosis, Thin skin, Blepharitis |
ORPHA:910 |
Biotinidase Deficiency |
|
Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Conjunctivitis |
OMIM:253260 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Cheilitis, Hyperkeratosis, Inflammation of the large intestine, Palmop... |
ORPHA:2908 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Noonan Syndrome 2 |
|
Sparse eyebrow, Hyperkeratosis, Curly hair, Low posterior hairline |
OMIM:605275 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Sparse hair, Alopecia, Nail dystrophy |
OMIM:616353 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Psoriasiform dermatitis |
ORPHA:2237 |
Hermansky-Pudlak Syndrome |
|
Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Long eyelashes |
ORPHA:79430 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Iridocyclitis, Alopecia, Pancreatitis |
ORPHA:412057 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Follicular hyperkeratosis |
OMIM:254090 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail |
ORPHA:257 |
Bethlem Myopathy |
|
Hyperkeratosis |
ORPHA:610 |
Systemic Sclerosis |
|
Alopecia, Pericarditis, Osteomyelitis, Nail bed telangiectasia, Glomerulonephritis, Recurrent ski... |
ORPHA:90291 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Sparse eyelashes |
OMIM:616367 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia, Ichthyosis |
OMIM:163200 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Nai... |
OMIM:129900 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Fine hair |
ORPHA:228390 |
Gomez-Lopez-Hernandez Syndrome |
|
Alopecia |
OMIM:601853 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Supernumerary nipple |
ORPHA:3224 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Nai... |
OMIM:604292 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Erythroderma |
ORPHA:169154 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Thickened skin, Loss of eyelashes, Conjunctivitis, Scleroderma, Hypertr... |
OMIM:263700 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Sparse hair, Death in early adulthood, Alopecia, Brittle hair |
OMIM:608612 |
Chime Syndrome |
|
Sparse hair, Hyperkeratosis, Fine hair, Ichthyosis |
ORPHA:3474 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia |
OMIM:600785 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Hypoplastic toenails, Absent eyela... |
ORPHA:544488 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Premature graying of hair, Aortic root aneurysm, Sparse hair, S... |
ORPHA:363618 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Skin rash |
OMIM:253270 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Abnormal hair morphology, Alopecia, Nail dystrophy, Thin skin |
ORPHA:90154 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Johanson-Blizzard Syndrome |
|
Death in infancy, Alopecia, Abnormal hair pattern |
ORPHA:2315 |
Hemochromatosis, Type 1 |
|
Alopecia |
OMIM:235200 |
Bartsocas-Papas Syndrome |
|
Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye... |
ORPHA:1234 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Nail pits, Premature graying of hair, Interstitial pneumonitis, Nail dystr... |
OMIM:127550 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Eczema, Thyroiditis, Recurrent aphthous stomatitis, Stomatitis |
OMIM:212750 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:175500 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Conjunctivitis, Nail dystrophy, Nail dysplasia |
OMIM:226600 |
Adams-Oliver Syndrome |
|
Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Hypoplastic fingernail |
ORPHA:974 |
Lymphatic Filariasis |
|
Glomerulonephritis, Orchitis, Lymphadenitis, Knee osteoarthritis, Epididymitis, Hyperkeratosis |
ORPHA:2035 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Sparse eyebrow, Congenital ichthyosiform erythroderma, Patchy alopecia, Congeni... |
OMIM:302960 |
Rothmund-Thomson Syndrome Type 1 |
|
Plantar hyperkeratosis, Porokeratosis, Alopecia totalis, Sparse or absent eyelashes, Nail dysplas... |
ORPHA:221008 |
Insulin-Resistance Syndrome Type B |
|
Alopecia, Skin rash, Pneumonia, Osteoarthritis, Acanthosis nigricans, Nephritis, Hirsutism |
ORPHA:2298 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia |
OMIM:600142 |
Atypical Werner Syndrome |
|
Abnormal hair quantity, Alopecia, Abnormal hair morphology, Abnormal hair whorl, Premature grayin... |
ORPHA:79474 |
Satoyoshi Syndrome |
|
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis |
ORPHA:3130 |
Giant Cell Arteritis |
|
Arthritis, Alopecia, Abdominal aortic aneurysm, Pericarditis |
ORPHA:397 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
OMIM:135100 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Breast aplasia, Thin skin |
ORPHA:90153 |
Hutchinson-Gilford Progeria Syndrome |
|
Alopecia |
OMIM:176670 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Abnormal fingernail morphology |
ORPHA:1647 |
Immunodeficiency 7 |
|
Recurrent otitis media, Patchy alopecia, Chronic oral candidiasis |
OMIM:615387 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Abnormality of hair texture, Thickened skin, Synophrys, Hypoplastic sweat glands, Epidermal thick... |
ORPHA:73223 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
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Persistence of hemoglobin F |
OMIM:617101 |
Gapo Syndrome |
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Sparse eyebrow, Early balding, Alopecia, Sparse eyelashes |
ORPHA:2067 |
Stevens-Johnson Syndrome |
|
Conjunctivitis, Pancreatitis, Acantholysis |
ORPHA:36426 |
Adrenoleukodystrophy |
|
Alopecia |
OMIM:300100 |
Leprechaunism |
|
Facial hypertrichosis, Thickened skin, Hyperkeratosis, Acanthosis nigricans, Hypertrichosis |
ORPHA:508 |
Short Syndrome |
|
Sparse hair, Alopecia |
ORPHA:3163 |
Neutral Lipid Storage Disease With Ichthyosis |
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Alopecia, Congenital nonbullous ichthyosiform erythroderma |
ORPHA:98907 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Alopecia, Eczema, Hyperkeratosis, Ichthyosis, Recurrent otitis media, Fair hair, Aortic aneurysm |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Alopecia, Eczema, Hyperkeratosis, Ichthyosis, Recurrent otitis media, Fair hair, Aortic aneurysm |
ORPHA:363958 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
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Alopecia, Seborrheic dermatitis |
OMIM:210210 |
Toxic Epidermal Necrolysis |
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Conjunctivitis, Pancreatitis, Acantholysis |
ORPHA:537 |
Rothmund-Thomson Syndrome Type 2 |
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Plantar hyperkeratosis, Porokeratosis, Alopecia totalis, Sparse or absent eyelashes, Nail dysplas... |
ORPHA:221016 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
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Premature graying of hair, Alopecia, Nail dysplasia, Fine hair |
OMIM:613990 |
Relapsing Polychondritis |
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Episcleritis, Alopecia, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uve... |
ORPHA:728 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Hyperkeratosis |
ORPHA:79280 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Trichiasis, Acantho... |
ORPHA:95455 |
Biotinidase Deficiency |
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Skin rash, Alopecia, Eczematoid dermatitis, Conjunctivitis |
ORPHA:79241 |
Juvenile Dermatomyositis |
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Alopecia, Pericarditis, Skin rash, Myositis, Pruritus, Arthritis |
ORPHA:93672 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Acanthosis nigricans, Sparse scalp hair, Alopecia, Onychogryposis |
OMIM:248370 |
Autoimmune Polyendocrine Syndrome, Type Ii |
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Alopecia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic hepatitis |
OMIM:269200 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Alopecia, Acne, Hirsutism |
ORPHA:189427 |
Leigh Syndrome |
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Alopecia, Frontal hirsutism, Eczema, Hypertrichosis |
ORPHA:506 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
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Alopecia, Acne, Hirsutism |
ORPHA:90795 |
Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia |
ORPHA:453533 |
Restrictive Dermopathy 1 |
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Sparse eyelashes, Short nail, Epidermal hyperkeratosis, Absent eyelashes, Sparse eyebrow, Stillbi... |
OMIM:275210 |
Autoimmune Polyendocrinopathy Type 4 |
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Alopecia, Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulo... |
ORPHA:227990 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:268400 |
Trichotillomania |
|
Alopecia |
OMIM:613229 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Eczema, Abnormal fingernail morphology, Abnormality of the nail |
ORPHA:428 |
Mogs-Cdg |
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Alopecia, Fair hair, Long eyelashes, Hirsutism |
ORPHA:79330 |
Restrictive Dermopathy |
|
Short nail, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat gl... |
ORPHA:1662 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Alopecia, Low posterior hairline |
ORPHA:2959 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Uveitis, Sparse hair, Sp... |
ORPHA:2108 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
Localized Scleroderma |
|
Abnormal skin adnexa morphology, Fasciitis, Thickened skin, Uveitis, Arthritis, Patchy alopecia, ... |
ORPHA:90289 |
Ane Syndrome |
|
Alopecia |
ORPHA:157954 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo... |
ORPHA:2232 |
Autoimmune Polyendocrinopathy Type 3 |
|
Alopecia, Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulo... |
ORPHA:227982 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sparse hair, Bre... |
OMIM:230740 |
6Q Terminal Deletion Syndrome |
|
Hyperkeratosis, Low anterior hairline, Highly arched eyebrow |
ORPHA:75857 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:613451 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Alopecia, Keratoconjunctivitis sicca, Aortic root aneurysm, Periodontitis, Webbed neck |
ORPHA:536532 |
Peeling Skin Syndrome 1 |
|
Brittle hair, Pruritus, Onycholysis, Nail dystrophy, Erythroderma |
OMIM:270300 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia |
ORPHA:93160 |
Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Patchy alopecia, Iritis |
OMIM:109650 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Nail dystrophy |
OMIM:620040 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Synophrys, Thin skin, Follicular hyperkeratosis, Aortic aneurysm |
ORPHA:536545 |
Systemic Lupus Erythematosus |
|
Alopecia, Lupus nephritis, Discoid lupus rash, Cheilitis, Arthritis, Malar rash, Serositis |
ORPHA:536 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Death in infancy, Sparse eyelashes, Sparse eyebrow, Fine hair, Hyperkeratosis,... |
OMIM:210710 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy |
OMIM:614008 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Optic atrophy, Abnormal hemoglobin, Anemia |
ORPHA:847 |
Kanzaki Disease |
|
Hyperkeratosis |
OMIM:609242 |
Vitamin D-Dependent Rickets, Type 2A |
|
Alopecia universalis |
OMIM:277440 |
Focal Dermal Hypoplasia |
|
Alopecia, Abnormality of the nail, Thin skin |
ORPHA:2092 |
Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology |
ORPHA:330015 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia |
OMIM:613001 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Recurrent pneumonia, Thin skin, Follicular hyperkeratosis |
OMIM:225400 |
Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Small nail, Anon... |
OMIM:263650 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Recurrent skin infections, Pneumonia, Paronychia, Gastrointestinal inflammation, Pyoder... |
ORPHA:79404 |
Colchicine Poisoning |
|
Myocarditis, Alopecia |
ORPHA:31824 |
Autosomal Recessive Robinow Syndrome |
|
Death in infancy, Alopecia, Long eyelashes, Fingernail dysplasia, Chronic otitis media |
ORPHA:1507 |
Chronic Graft Versus Host Disease |
|
Alopecia, Fasciitis, Thickened skin, Urinary bladder inflammation, Bronchiectasis, Arthritis, Ker... |
ORPHA:99921 |
Distal Deletion 19P |
|
Alopecia, Thick eyebrow |
ORPHA:96129 |
Fabry Disease |
|
Hyperkeratosis, Arthritis |
ORPHA:324 |
Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Coarse hair, Sparse hair, Chronic otitis media |
ORPHA:2750 |
Kikuchi-Fujimoto Disease |
|
Alopecia, Skin rash, Pruritus, Myocarditis, Pustule, Malar rash |
ORPHA:50918 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Alopecia totalis |
OMIM:618775 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Sparse eyelashes, Pterygium of nails, Premature graying of hai... |
OMIM:305000 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Follicular hyperkeratosis |
OMIM:614557 |
Scalp-Ear-Nipple Syndrome |
|
Sparse axillary hair, Sparse pubic hair, Thickened skin, Fine hair, Pyelonephritis, Patchy alopec... |
OMIM:181270 |
Warburg-Cinotti Syndrome |
|
Thin skin, Follicular hyperkeratosis |
OMIM:618175 |
Orofaciodigital Syndrome I |
|
Sparse hair, Alopecia, Dry hair |
OMIM:311200 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Aortic arch aneurysm, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Thyroiditis... |
ORPHA:99413 |
Turner Syndrome |
|
Aortic arch aneurysm, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Thyroiditis... |
ORPHA:881 |
Mosaic Monosomy X |
|
Aortic arch aneurysm, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Thyroiditis... |
ORPHA:99228 |
Monosomy X |
|
Aortic arch aneurysm, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Thyroiditis... |
ORPHA:99226 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Pneumonia, Absent eyelashes, Spars... |
OMIM:264090 |
Linear Nevus Sebaceus Syndrome |
|
Alopecia |
ORPHA:2612 |
Autosomal Dominant Robinow Syndrome |
|
Alopecia, Curly eyelashes, Long eyelashes, Fingernail dysplasia, Ridged fingernail, Onychogryposi... |
ORPHA:3107 |
Bloom Syndrome |
|
Sparse eyelashes, Pneumonia, Skin rash, Paronychia, Cheilitis, Uveitis, Patchy alopecia, Rhinitis... |
ORPHA:125 |
Sympathetic Ophthalmia |
|
Alopecia, Posterior uveitis, Poliosis |
ORPHA:79098 |
Woodhouse-Sakati Syndrome |
|
Sparse hair, Alopecia, Fine hair |
OMIM:241080 |
Encephalocraniocutaneous Lipomatosis |
|
Abnormal eyelash morphology, Alopecia |
ORPHA:2396 |
Cowden Syndrome |
|
Palmoplantar keratoderma, Generalized hyperkeratosis |
ORPHA:201 |
African Trypanosomiasis |
|
Alopecia, Pericarditis, Miscarriage, Keratitis, Myocarditis, Pruritus, Optic neuritis, Conjunctiv... |
ORPHA:3385 |
Sarcoidosis |
|
Alopecia, Maculopapular exanthema, Erythema nodosum, Bronchiectasis, Uveitis, Tubulointerstitial ... |
ORPHA:797 |
Viss Syndrome |
|
Sparse scalp hair, Alopecia, Chronic gastritis, Eczema, Atopic dermatitis, Ascending tubular aort... |
OMIM:619472 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Sparse hair, Alopecia, Loss of eyelashes, Thin eyebrow |
ORPHA:2636 |
Adams-Oliver Syndrome 1 |
|
Alopecia, Supernumerary nipple, Small nail |
OMIM:100300 |
Proteus Syndrome |
|
Thickened skin, Generalized hyperkeratosis, Abnormality of the nail, Generalized hirsutism |
ORPHA:744 |
Steinert Myotonic Dystrophy |
|
Early balding, Alopecia |
ORPHA:273 |
Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Abnormality of hair texture, Abnormal eyelash morphology, Osteoarthritis, Ascending tub... |
ORPHA:286 |
Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Alopecia totalis, Osteoarthritis, Loss of eyelashes, Patchy alopecia, Dystrophic ... |
ORPHA:740 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:3464 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia |
OMIM:619321 |
Ring Chromosome 13 Syndrome |
|
Alopecia |
ORPHA:96176 |
Pallister-Killian Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter... |
OMIM:601803 |