Acne Inversa, Familial, 3 |
|
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation |
OMIM:613737 |
Alopecia Areata 2 |
|
Alopecia totalis, Alopecia universalis, Patchy alopecia, Alopecia of scalp |
OMIM:610753 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Alopecia Universalis Congenita |
|
Alopecia universalis, Absent eyebrow, Absent pubic hair, Absent eyelashes, Absent axillary hair |
OMIM:203655 |
Hypotrichosis 5 |
|
Sparse eyelashes, Alopecia, Thin eyebrow, Absent pubic hair, Absent axillary hair |
OMIM:612841 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes |
ORPHA:55654 |
Alopecia Universalis |
|
Alopecia universalis, Absent eyebrow, Absent eyelashes, Patchy alopecia |
ORPHA:701 |
Hypotrichosis 4 |
|
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair |
OMIM:146550 |
Acne Inversa, Familial, 1 |
|
Acne inversa |
OMIM:142690 |
Alopecia Areata 1 |
|
Alopecia universalis, Patchy alopecia, Alopecia totalis, Trachyonychia, Nail pits |
OMIM:104000 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Peeling Skin Syndrome 3 |
|
White scaling skin |
OMIM:616265 |
Alopecia-Mental Retardation Syndrome 1 |
|
Alopecia universalis |
OMIM:203650 |
Hypotrichosis 11 |
|
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... |
OMIM:615059 |
Peeling Skin Syndrome 2 |
|
Erythema, Scaling skin |
OMIM:609796 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Oculotrichodysplasia |
|
Nail dysplasia, Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Fragile nails, Dry ski... |
OMIM:257960 |
Kerion Celsi |
|
Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Lymphadenopathy, Rec... |
ORPHA:499 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... |
ORPHA:3361 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia |
OMIM:614928 |
Keratosis Palmoplantaris Striata Ii |
|
Epidermal acanthosis |
OMIM:612908 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse pubic hair, Sparse axillary hair |
ORPHA:505 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Epidermal acanthosis, Congenital alopecia totalis, Cutis laxa, Sparse eyebrow, Absent pubic hair,... |
ORPHA:2269 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Skin rash, Splenomegaly, Alopecia, Eczema, Erythema, Dry skin, Abnormality of the n... |
ORPHA:2584 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality |
|
Alopecia universalis, Congenital alopecia totalis |
OMIM:104130 |
Dowling-Degos Disease 4 |
|
Epidermal acanthosis |
OMIM:615696 |
Netherton Syndrome |
|
Sparse scalp hair, Asthma, Urticaria, Congenital nonbullous ichthyosiform erythroderma, Decreased... |
OMIM:256500 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... |
OMIM:613953 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumonia, Pancy... |
OMIM:614700 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Lymphadenitis, Abnormal B cell count, Abnormal T cell count, Decreased circulating ... |
ORPHA:331206 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Nail pits, Congenital alopecia totalis, Ridged nail |
ORPHA:169095 |
Pgm3-Cdg |
|
High palate, Abnormal proportion of CD8-positive T cells, Vasculitis in the skin, Eczema, Chronic... |
ORPHA:443811 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
Acrokeratosis Verruciformis |
|
Epidermal acanthosis, Ridged nail |
OMIM:101900 |
Sézary Syndrome |
|
Ectropion, Hepatomegaly, Splenomegaly, Alopecia, Dry skin, Abnormal pleura morphology, Abnormal i... |
ORPHA:3162 |
Hypotrichosis 1 |
|
Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Sparse axillary hair, Sparse pub... |
OMIM:605389 |
Caspase 8 Deficiency |
|
Asthma, Decreased circulating IgA level, Failure to thrive, Decreased circulating IgG level, Recu... |
OMIM:607271 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Eczema, B lymphocytopenia, Erythroderma, Decreased proportion of CD4+CD25+ regulatory T cells, Fa... |
OMIM:606367 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Erythroderma, Increased circulating antibody level, Increased circulating IgG level, T ... |
ORPHA:169154 |
Selective Igm Deficiency |
|
Keratitis, Recurrent infection of the gastrointestinal tract, Otitis media, Stomach cancer, Rheum... |
ORPHA:331235 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Pneumonia, Absence of CD8-posit... |
ORPHA:911 |
Dissecting Cellulitis Of The Scalp |
|
Pruritus, Recurrent skin infections |
ORPHA:345 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, ... |
OMIM:616100 |
Cerebellar Ataxia And Ectodermal Dysplasia |
|
Sparse hair, Alopecia |
OMIM:212835 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Abnormal fingernai... |
ORPHA:2722 |
Roifman Syndrome |
|
Hip contracture, Short stature, Delayed proximal femoral epiphyseal ossification, Hyperconvex nai... |
ORPHA:353298 |
Parc Syndrome |
|
Absent eyebrow, Absent eyelashes, Alopecia |
OMIM:600331 |
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Alopecia, Sparse body hair, Onychogryposis of toenails, Dystrophic toenail, Alopecia of scalp |
OMIM:617294 |
Peeling Skin Syndrome 5 |
|
Epidermal acanthosis |
OMIM:617115 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Eczema, Abscess, Anal fissure, Recurrent tonsillitis, Splenomegaly, Oral ulcer, Ul... |
OMIM:618935 |
Skin Fragility-Woolly Hair Syndrome |
|
Woolly hair, Sparse eyebrow, Sparse eyelashes, Alopecia, Palmoplantar erythema, Palmoplantar scal... |
OMIM:607655 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, B lymphocytopenia, Pancytopenia, Monocytopenia, Chronic bronchitis, T lymphocytope... |
OMIM:618986 |
Hypotrichosis Simplex Of The Scalp |
|
Sparse scalp hair, Epidermal acanthosis, Scaling skin, Fine hair, Slow-growing scalp hair, Alopec... |
ORPHA:90368 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Sparse hair, Absent eyebrow, Scaling skin, Absent eyelashes, Dystrophic fingernails, Nail dystrop... |
OMIM:604536 |
Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Paget Disease, Extramammary |
|
Eczematoid dermatitis |
OMIM:167300 |
Mixed Connective Tissue Disease |
|
Hepatomegaly, Gastritis, Alopecia, Myocarditis, Osteolysis, Gastrointestinal hemorrhage, Pericard... |
ORPHA:809 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Recurrent gastroenteritis, Urticaria, Gastritis, Alopecia, Eczema, Vomiting... |
ORPHA:37042 |
Hypotrichosis 14 |
|
Sparse body hair, Sparse hair |
OMIM:618275 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Sparse or absent eye... |
ORPHA:444 |
Immunodeficiency 58 |
|
Eczema, Helicobacter pylori infection, Decreased specific antibody response to vaccination, Colit... |
OMIM:618131 |
Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Eczema, Diarrhea, Decreased proportion of CD4+CD25+ regulatory T cells, Monocyt... |
OMIM:619802 |
Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
Psoriasis 14, Pustular |
|
Epidermal acanthosis, Oligoarthritis, Parakeratosis, Neutrophilia, Leukocytosis, Pustule, Erythem... |
OMIM:614204 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Chronic pulmonary obstruction, Recurrent sinopulmonary infections, Recurrent skin infections, Alo... |
OMIM:616576 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... |
OMIM:602032 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Skin rash, Decreas... |
OMIM:619924 |
Autoimmune Lymphoproliferative Syndrome |
|
Urticaria, Abnormal proportion of CD8-positive T cells, Hepatomegaly, Gastritis, Uveitis, Bone ma... |
ORPHA:3261 |
Immunodeficiency 14A, Autosomal Dominant |
|
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... |
OMIM:615513 |
Omenn Syndrome |
|
Failure to thrive, Hepatomegaly, Leukocytosis, Splenomegaly, Alopecia, Aplasia/Hypoplasia of the ... |
ORPHA:39041 |
Severe Combined Immunodeficiency, X-Linked |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly... |
OMIM:300400 |
Schnitzler Syndrome |
|
Urticaria, Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Skin rash, A... |
ORPHA:37748 |
Epidermolytic Hyperkeratosis |
|
Epidermal acanthosis, Scaling skin |
OMIM:113800 |
Immunodeficiency 57 With Autoinflammation |
|
Failure to thrive, Gastritis, Skin rash, Recurrent respiratory infections, Diarrhea, Chronic lung... |
OMIM:618108 |
Familial Reactive Perforating Collagenosis |
|
Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Crusting erythem... |
ORPHA:79147 |
Diffuse Cutaneous Mastocytosis |
|
Urticaria, Hepatomegaly, Diarrhea, Vomiting, Pruritus, Erythroderma, Gastrointestinal hemorrhage,... |
ORPHA:79456 |
Immunodeficiency 64 |
|
Failure to thrive, Decreased lymphocyte proliferation in response to mitogen, Increased circulati... |
OMIM:618534 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Erythema, Scaling skin |
OMIM:617571 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Erythema, Dry skin, Palmoplantar scaling skin, Scaling skin, Concave nail |
ORPHA:530838 |
Neonatal Lupus Erythematosus |
|
Neutropenia, Hepatomegaly, Parakeratosis, Skin rash, Splenomegaly, Hepatic failure, Maculopapular... |
ORPHA:398124 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Epidermal acanthosis |
OMIM:615028 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Epidermal acanthosis, Hepatomegaly, Increased circulating IgA level, Splenomeg... |
OMIM:617388 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Failure to thrive, Hepatomegaly, Leukocytosis, Splenomegaly, Abdominal pain, Lymphadenitis, Eczem... |
OMIM:615895 |
Immunodeficiency 102 |
|
Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... |
OMIM:301082 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Asthma, Growth delay, Eosinophilic infiltration of the esophagus, Eosinophilia, Decreased circula... |
OMIM:243700 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... |
OMIM:619824 |
Roifman Syndrome |
|
Hip contracture, Hepatomegaly, Splenomegaly, Short stature, Eosinophilia, Eczema, Prominent eyela... |
OMIM:616651 |
Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Patchy alopecia |
ORPHA:346 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Urticaria, Hepatomegaly, Gastrointestinal hemorrhage, Lymphadenopathy, Splenomegaly, Follicular h... |
OMIM:603909 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par... |
OMIM:240500 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Sparse hair, Cutis marmorata, Periungual erythema, Joint stiffness, Follicular hyperplasia, Eryth... |
OMIM:615934 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Deep dermatophytosis, Abno... |
OMIM:212050 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... |
ORPHA:169160 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenom... |
OMIM:619220 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Onycholysis, Epidermal acanthosis, Leukonychia, Scaling skin |
OMIM:616295 |
Immunodeficiency 82 With Systemic Inflammation |
|
Gastritis, Vasculitis in the skin, Diarrhea, Vomiting, B lymphocytopenia, Pneumonia, Weight loss,... |
OMIM:619381 |
L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
Monilethrix |
|
Nail dysplasia, Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia, Nail dystrophy |
OMIM:158000 |
Bazex Syndrome |
|
Lung adenocarcinoma, Yellow nails, Acanthosis nigricans, Hyperkeratosis, Scaling skin, Pruritus, ... |
ORPHA:166113 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Anorexia, Hepatospleno... |
OMIM:209950 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Cutaneous abscess, Chronic furunculosis |
OMIM:619986 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Diarrhea, Pneumonia, Jaundice, Decreased proportion of naive T cells, Decreased cir... |
ORPHA:276 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Cutaneous abscess, Recurrent fractures, High palate, Eczematoid dermatitis, Persistence of primar... |
OMIM:147060 |
Bathing Suit Ichthyosis |
|
Multiple joint contractures, Congenital nonbullous ichthyosiform erythroderma, Ectropion, Epiderm... |
ORPHA:100976 |
Hypotrichosis 10 |
|
Sparse body hair, Sparse eyebrow, Sparse eyelashes |
OMIM:614238 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Ileus, Failure to thrive, Coombs-positive hemolytic anemia, Alopecia, Eosinophilia, Eczema, Autoi... |
OMIM:304790 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Trichodysplasia, Alopecia of scalp |
ORPHA:79129 |
Prolidase Deficiency |
|
Hirsutism, Generalized hirsutism, Hepatomegaly, Low anterior hairline, Splenomegaly, Reduced bone... |
ORPHA:742 |
Hyper-Igd Syndrome |
|
Increased circulating IgA level, Neutrophilia, Leukocytosis, Splenomegaly, Chronic oral candidias... |
OMIM:260920 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Dry skin, Abnormal fingernail morphology, Fine hair, Abnormal toenail morphology, Abnor... |
ORPHA:248 |
Intellectual Developmental Disorder, Fra12A Type |
|
Erythroderma |
OMIM:136630 |
Immunodeficiency 104 |
|
Hepatomegaly, Gastroesophageal reflux, Otitis media, Splenomegaly, Eczema, Diarrhea, T lymphocyto... |
OMIM:608971 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Absent isohemagglutinin level, Alopecia, Increased proportion autoreactive unrespon... |
OMIM:615559 |
Erythrokeratodermia Variabilis |
|
Generalized hirsutism, Skin rash, Alopecia, Short stature, Erythema, Dry skin, Patchy palmoplanta... |
ORPHA:317 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Impaired memory B cell generation, Diarrhea, Absence of lymph node germinal center,... |
OMIM:308230 |
Acral Self-Healing Collodion Baby |
|
Lack of skin elasticity, Erythema, Palmoplantar scaling skin |
ORPHA:281127 |
Omenn Syndrome |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Alopecia, Eosinophilia, Hypoplasia of the thymus, ... |
OMIM:603554 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Nail dysplasia, Epidermal acanthosis, Congenital nonbullous ichthyosiform erythroderma, Ectropion... |
OMIM:242300 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG level, Lymphopenia, Tu... |
OMIM:619510 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Scaling skin, Dry skin, Cutis laxa |
OMIM:105250 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation |
OMIM:613736 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low... |
OMIM:602450 |
Erythema Nodosum, Familial |
|
Erythema nodosum |
OMIM:132990 |
Hypertrichosis Lanuginosa Congenita |
|
Congenital, generalized hypertrichosis, Double eyebrow |
OMIM:145700 |
Lymphatic Filariasis |
|
Predominantly lower limb lymphedema, Orchitis, Circulating immune complexes, Lymphadenitis, Glome... |
ORPHA:2035 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Respiratory distress, Hepatomegaly, Cleft palate, Severe B lymphocytopenia, Eczem... |
ORPHA:83617 |
X-Linked Agammaglobulinemia |
|
Alopecia, Abnormality of the tonsils, Skin ulcer, Abnormal lung morphology, Weight loss, Malabsor... |
ORPHA:47 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Skin rash, Splenomegaly |
OMIM:619175 |
Syndromic Diarrhea |
|
Hepatomegaly, Hepatoblastoma, Gastritis, Panhypogammaglobulinemia, Intrauterine growth retardatio... |
ORPHA:84064 |
Immunodeficiency 92 |
|
Decreased circulating IgA level, Osteomyelitis, Decreased circulating IgG level, Hepatomegaly, Ly... |
OMIM:619652 |
Bloom Syndrome |
|
Recurrent gastroenteritis, Cheilitis, Abnormal proportion of CD8-positive T cells, Otitis media, ... |
ORPHA:125 |
Palmoplantar Keratoderma, Nagashima Type |
|
Epidermal acanthosis |
OMIM:615598 |
Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma |
OMIM:227090 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
High palate, Recurrent otitis media, Recurrent skin infections, Alopecia, Abnormality of the dent... |
OMIM:618282 |
Chronic Actinic Dermatitis |
|
Eczema, Allergic rhinitis, Late onset atopic dermatitis, Pruritus, Erythroderma |
ORPHA:330064 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hepatomegaly, Coarse hair, Enlarged kidney, Long eyelashes, Bone marrow hyp... |
OMIM:617303 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Nail dystrophy, Alopecia |
OMIM:616487 |
Autoimmune Lymphoproliferative Syndrome |
|
Urticaria, Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Increased circulat... |
OMIM:601859 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Failure to thrive, Hepatomegaly, Splenomegaly, Extramedulla... |
OMIM:615285 |
Peeling Skin Syndrome 4 |
|
Epidermal acanthosis, Scaling skin, Nail dystrophy |
OMIM:607936 |
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Woolly scalp hair, Woolly hair, Alopecia |
OMIM:601217 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Alopecia, Abnormality of the small int... |
ORPHA:100025 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... |
OMIM:618394 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Decreased ci... |
ORPHA:183675 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Bronchiolitis obliterans, Feeding difficulties, Small for gestational age, Hypoplasia of the thym... |
OMIM:617241 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Nail pits, Ridged nail, Nail dystrophy, Alopecia |
OMIM:601705 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Lymp... |
ORPHA:277 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Keratitis, Dental crowding, Joint contracture of the hand, Macroglossia, Craniosynostosis, Eosino... |
OMIM:618523 |
Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Alopecia, Lymphadeniti... |
ORPHA:90156 |
Psoriasis 2 |
|
Epidermal acanthosis, Scaling skin |
OMIM:602723 |
Igg4-Related Kidney Disease |
|
Pancreatitis, Complement deficiency, Lymphadenitis, Decreased serum complement C4, Enlarged kidne... |
ORPHA:449395 |
Chromomycosis |
|
Keratitis, Predominantly lower limb lymphedema, Eyelid retraction, Vascular skin abnormality, Hyp... |
ORPHA:182 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Chronic gastritis, Apnea, Colitis, Decreased circulating IgG level, Failure to thrive, Eczema, Di... |
OMIM:608809 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
High palate, Decreased circulating IgA level, Decreased circulating total IgM, Increased suscepti... |
OMIM:619752 |
Mannose-Binding Lectin Deficiency |
|
Recurrent skin infections |
OMIM:614372 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hemophagocytosis, Maculopapular exanthema, Erythroderma, Jaundice, Lymphadenopathy,... |
ORPHA:540 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemophagocytosis, Splenomegaly, Lymph... |
OMIM:308240 |
Rat-Bite Fever |
|
Abdominal aseptic abscess, Oligoarthritis, Pancreatitis, Pustule, Skin rash, Maculopapular exanth... |
ORPHA:31205 |
Pili Torti |
|
Pili torti, Abnormal eyebrow morphology, Abnormality of hair texture, Brittle hair, Alopecia, Abn... |
ORPHA:2889 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Epidermal acanthosis, Leukonychia, Sparse hair, Sparse eyebrow, Sparse axillar... |
OMIM:613102 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin |
ORPHA:464318 |
Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
Hidrotic Ectodermal Dysplasia |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... |
ORPHA:189 |
Rare Cutaneous Lupus Erythematosus |
|
Telangiectasia of the skin, Urticaria, Vascular skin abnormality, Discoid lupus rash, Cheilitis, ... |
ORPHA:535 |
Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... |
OMIM:605258 |
Reticular Dysgenesis |
|
Failure to thrive, Malabsorption, Skin rash, Leukopenia, Diarrhea, Dehydration, Chronic otitis me... |
ORPHA:33355 |
Chilblain Lupus |
|
Increased circulating antibody level, Discoid lupus rash, Inflammatory abnormality of the skin, A... |
ORPHA:90280 |
Ulerythema Ophryogenesis |
|
Dry skin, Follicular hyperkeratosis, Facial erythema, Contact dermatitis, Acne, Hyperkeratotic pa... |
ORPHA:3406 |
Graft Versus Host Disease |
|
Recurrent gastroenteritis, Hemophagocytosis, Maculopapular exanthema, Diarrhea, Vomiting, Pneumon... |
ORPHA:39812 |
Immunodeficiency 70 |
|
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec... |
OMIM:618969 |
Aicardi-Goutieres Syndrome 7 |
|
Urticaria, Hepatomegaly, Diarrhea, Hematochezia, Pneumonia, Pancytopenia, Weight loss, Intrauteri... |
OMIM:615846 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... |
OMIM:619281 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion, Epidermal acanthosis, Erythema, Gingivitis, Ridge... |
ORPHA:83453 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Cleft palate, Craniosynostosis, Osteopenia, Eczema, Abnormality of the dentition, Delayed eruptio... |
ORPHA:2314 |
Erythrokeratodermia Variabilis Et Progressiva 2 |
|
Hypertrichosis, Erythema |
OMIM:617524 |
Iga Pemphigus |
|
Oral mucosal blisters, Increased circulating IgA level, Pustule, Eosinophilia, Generalized abnorm... |
ORPHA:555905 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Pruritis on hand, Eczematoid dermatitis, Pruritus on foot, Palmoplantar erythema, Palmar pruritus... |
ORPHA:64745 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas... |
OMIM:613502 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Urticaria, Eosinophilic microabscess formation in the esophagus, Vomiting, Lactose intolerance, F... |
ORPHA:411696 |
Peeling Skin Syndrome 1 |
|
Asthma, Brittle hair, Short stature, Eosinophilia, Scaling skin, Pruritus, Nail dystrophy, Erythr... |
OMIM:270300 |
Cole Disease |
|
Epidermal acanthosis |
OMIM:615522 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Erythroderma, Pruritus |
ORPHA:280785 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Trichothiodystrophy 1, Photosensitive |
|
Congenital nonbullous ichthyosiform erythroderma, Sparse hair, Triangular mouth, Hypogonadism, Er... |
OMIM:601675 |
Boutonneuse Fever |
|
Petechiae, Skin rash, Abdominal pain, Cervical lymphadenopathy, Maculopapular exanthema, Leukopen... |
ORPHA:83313 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Enlarged tonsils, ... |
OMIM:616005 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Epidermal acanthosis, Orthokeratosis, Hepatomegaly, Sparse hair, Hypodontia, Sparse eyelashes, Al... |
OMIM:607626 |
Kid Syndrome |
|
Keratitis, Progeroid facial appearance, Sparse hair, Sparse eyebrow, Abnormality of the dentition... |
ORPHA:477 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
Adult-Onset Still Disease |
|
Joint swelling, Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Skin rash, Abdominal pain... |
ORPHA:829 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... |
OMIM:608106 |
Netherton Syndrome |
|
Urticaria, Congenital nonbullous ichthyosiform erythroderma, Sparse eyebrow, Eczema, Erythroderma... |
ORPHA:634 |
Tooth Agenesis, Selective, 8 |
|
Sparse hair, Dry skin, Sparse eyebrow |
OMIM:617073 |
Immunodeficiency 48 |
|
Failure to thrive, Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Diarrhea, Panhypogammaglobu... |
OMIM:269840 |
Cinca Syndrome |
|
Patellar overgrowth, Leukocytosis, Skin rash, Eosinophilia, Hepatosplenomegaly, Arthritis, Uveiti... |
OMIM:607115 |
Immunodeficiency 68 |
|
Recurrent skin infections, Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal... |
OMIM:612260 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Impaired T cell function, Cholestasis, Esophageal varix, Pancytopenia, Intrauterine... |
OMIM:614576 |
Erythroderma Desquamativum |
|
Seborrheic dermatitis |
ORPHA:314 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, Diarrhea, B lymphocyto... |
OMIM:102700 |
Acral Peeling Skin Syndrome |
|
Erythema, Excessive wrinkling of palmar skin, Scaling skin |
ORPHA:263534 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Leukonychia, Woolly hair, Tooth agenesis, Fragile nails, Erythema, Gingival recession, Ichthyosis... |
OMIM:615821 |
Whim Syndrome |
|
Sinusitis, Lymphopenia, Otitis media, Lymphadenitis, Recurrent upper respiratory tract infections... |
ORPHA:51636 |
Microsporidiosis |
|
Keratitis, Pancreatitis, Lymphadenitis, Vomiting, Myocarditis, Biliary tract abnormality, Glossit... |
ORPHA:2552 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair |
OMIM:616760 |
Kindler Epidermolysis Bullosa |
|
Cheilitis, Carious teeth, Abnormal toenail morphology, Colitis, Flexion contracture, Erythema, In... |
ORPHA:2908 |
Immunodeficiency 23 |
|
High palate, Vasculitis in the skin, Eczema, Abscess, Erythema, Increased circulating IgG level, ... |
OMIM:615816 |
Crandall Syndrome |
|
Pili torti, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair |
ORPHA:202 |
Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Abnormal pleura morphology, Uveitis, Generalized hyperkeratosis, Abnormal joint mor... |
ORPHA:92 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... |
OMIM:618982 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic arthrit... |
OMIM:300755 |
Pachydermoperiostosis |
|
Hepatomegaly, Osteolysis, Acne, Gastrointestinal hemorrhage, Joint swelling, Malabsorption, Eczem... |
ORPHA:2796 |
Lamellar Ichthyosis |
|
Ectropion, Sparse hair, Everted lower lip vermilion, Aplasia/Hypoplasia of the eyebrow, Lack of s... |
ORPHA:313 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Urticaria, Lymphopenia, Eosinophilia, Abnormal pleura morphology, Arthritis, Limitation of joint ... |
ORPHA:2582 |
Rosaï-Dorfman Disease |
|
Erythema, Osteolysis, Dysgammaglobulinemia, Anemia, Lymphadenopathy |
ORPHA:158014 |
Poikiloderma With Neutropenia |
|
Sparse eyebrow, Carious teeth, Sparse lateral eyebrow, Blepharitis, Joint stiffness, Growth delay... |
OMIM:604173 |
Mal De Meleda |
|
Epidermal acanthosis, Inflammatory abnormality of the skin, Flexion contracture, Erythema, Ichthy... |
ORPHA:87503 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Urticaria, Pancreatitis, Neutrophilia, Vasculitis in the skin, Cervical lym... |
ORPHA:3260 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Pustule, Elevated hepatic transaminase, Psoriasiform lesion, Superficial dermal perivascular infl... |
ORPHA:284426 |
Acquired Ichthyosis |
|
Recurrent skin infections, Erythema, Dry skin, Hyperkeratosis, Ichthyosis, Pruritus, Palmoplantar... |
ORPHA:454 |
Pityriasis Rubra Pilaris |
|
Erythroderma, Eczema, Pustule, Pruritus |
ORPHA:2897 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Rec... |
OMIM:613500 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... |
OMIM:233710 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Urticaria, Hepatomegaly, Neutrophilia, Diarrhea, Pruritus, Weight loss, Lymphadenopathy, Abnormal... |
ORPHA:98849 |
Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Iridocyclitis, Alopecia, Hypergonadotropic hypogonadism, Rheumatoid arthritis, Leukopeni... |
ORPHA:227990 |
Prolidase Deficiency |
|
High palate, Increased circulating antibody level, Asthma, Petechiae, Hepatomegaly, Diffuse telan... |
OMIM:170100 |
Lymphatic Malformation 3 |
|
Recurrent skin infections |
OMIM:613480 |
Granulomatous Disease, Chronic, X-Linked |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... |
OMIM:306400 |
Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... |
OMIM:233690 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Erythroderma |
OMIM:615022 |
Brucellosis |
|
Hepatomegaly, Vomiting, Myocarditis, Epididymitis, Hypersplenism, Pulmonary granulomatosis, Knee ... |
ORPHA:1304 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Short philtrum, Pancytopenia, Gastrostomy tube feeding in infancy, Failure to thriv... |
OMIM:613385 |
Ichthyosis With Confetti |
|
Congenital nonbullous ichthyosiform erythroderma, Decreased body weight, Hypertrichosis, Ectropio... |
OMIM:609165 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of... |
OMIM:612840 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Nail dysplasia, Atrichia, Absent hair, Sparse hair, Absent eyelashes, Nail dystrophy, Concave nail |
OMIM:614931 |
Isolated Agammaglobulinemia |
|
Failure to thrive, Sinusitis, Malabsorption, Skin rash, Otitis media, Short stature, Diarrhea, Ab... |
ORPHA:229717 |
Aspergillosis |
|
Keratitis, Abnormality on pulmonary function testing, Pneumonia, Rhinorrhea, Osteomyelitis, Chron... |
ORPHA:1163 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dysplasia, Dry skin, Facial erythema, Alopecia totalis, Nail dystrophy |
OMIM:212360 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Failure to thrive, Decreased circulating IgA level, Sinusitis, Malabsorption, Chronic bronchitis,... |
OMIM:242860 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Epidermal acanthosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, White sca... |
OMIM:604777 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... |
OMIM:613493 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Enanthema, Lymphocytosis, Pustule, Skin rash, Acute hepatic failure, Eosinophilia, Interstitial p... |
ORPHA:139402 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... |
OMIM:615897 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Epidermal acanthosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Alopecia,... |
ORPHA:79395 |
Anonychia With Flexural Pigmentation |
|
Macular telangiectasia, Anonychia, Follicular hyperkeratosis, Carious teeth, Hyperkeratosis, Abno... |
ORPHA:69125 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cholelithiasis, Alopecia universalis, Iridocyclitis, Chronic active hepatitis, Chronic oral candi... |
OMIM:240300 |
Olmsted Syndrome, X-Linked |
|
Blepharitis, Posterior blepharitis, Epidermal acanthosis, Subungual hyperkeratosis, Palmoplantar ... |
OMIM:300918 |
Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Iridocyclitis, Alopecia, Hypergonadotropic hypogonadism, Rheumatoid arthritis, Osteopeni... |
ORPHA:227982 |
Olmsted Syndrome 2 |
|
Alopecia universalis, Cheilitis, Flexion contracture of digit, Woolly hair, Sparse hair, Epiderma... |
OMIM:619208 |
Zygomycosis |
|
Melena, Pancreatitis, Gastritis, Unusual gastrointestinal infection, Diarrhea, Vomiting, Acute in... |
ORPHA:73263 |
Plague |
|
Respiratory distress, Hepatomegaly, Lymphadenitis, Diarrhea, Vomiting, Acute infectious pneumonia... |
ORPHA:707 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Pancreatitis, Nephritis, Complement deficiency, Eosinophilia, Lymphadenitis, Increased... |
ORPHA:449427 |
Immunodeficiency 52 |
|
Failure to thrive, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia,... |
OMIM:617514 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Keratitis, Nail dysplasia, Absent eyebrow, Cleft palate, Alopecia, Short stature, Dry skin, Folli... |
OMIM:308205 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, ... |
ORPHA:2442 |
X-Linked Dominant Chondrodysplasia Punctata |
|
High palate, Anterior rib punctate calcifications, Sparse eyebrow, Abnormally ossified vertebrae,... |
ORPHA:35173 |
Immunodeficiency 15A |
|
Acne inversa, Decreased proportion of CD8-positive T cells, Recurrent sinusitis, Decreased propor... |
OMIM:618204 |
Riddle Syndrome |
|
Otitis media, Diarrhea, Chronic sinusitis, Pneumonia, Weight loss, Respiratory failure, Decreased... |
ORPHA:420741 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia universalis, Abnormal eyelash morphology, Sparse body hair |
ORPHA:1008 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythroderma |
OMIM:133200 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Nail dysplasia, Leukonychia, Sparse hair, Brittle hair, Alopecia, Sparse eyebrow, Palmoplantar er... |
OMIM:104100 |
Olmsted Syndrome 1 |
|
Nail dysplasia, Alopecia universalis, Sparse hair, Flexion contracture, Subungual hyperkeratosis,... |
OMIM:614594 |
Parana Hard Skin Syndrome |
|
Generalized hirsutism, Short stature, Respiratory insufficiency, Hyperkeratosis, Growth delay, Re... |
ORPHA:2812 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Generalized edema, Weight loss, Decreased circulating IgA level, Decreased c... |
ORPHA:90362 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Arthritis |
OMIM:216950 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hypertrichosis, Flexion contracture of finger, Progeroid facial appearance, Hepatomegaly, Increas... |
OMIM:256040 |
Leishmaniasis |
|
Increased circulating antibody level, Hepatomegaly, Rhinitis, Abnormal oral cavity morphology, Sp... |
ORPHA:507 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Asthma, Leukocytosis, Nonproductive cough, Atopic dermatitis, Generalized abnormality of skin, Cr... |
ORPHA:2902 |
Cystic Echinococcosis |
|
Urticaria, Hepatomegaly, Multiple pulmonary cysts, Abscess, Peritoneal abscess, Abnormality of th... |
ORPHA:400 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Lumbar hypertrichosis, Sacral hypertrichosis, Anterior cervical hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
Immunodeficiency 49 |
|
Hirsutism, Inflammatory abnormality of the skin, Lymphopenia, Short palpebral fissure, Cutis laxa... |
OMIM:617237 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Intrauterine growth retardation, Feeding difficulties, Hepatic failure, Hepatosplenomegaly, Chole... |
ORPHA:541423 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Partial IgA deficiency, Fai... |
ORPHA:35078 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly, Myeloproliferative disorder, Eosinophilia, Pruritus |
OMIM:607685 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Eosinophilia, Complete or near-complete absence of specific anti... |
OMIM:610163 |
Björnstad Syndrome |
|
Brittle hair, Alopecia |
ORPHA:123 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Mediastinal lymphadenopathy,... |
OMIM:300853 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Hypertrichosis, Dermatochalasis, Osteopenia, Diarrhea, B lymphocytopenia, Decreased specific anti... |
ORPHA:221139 |
Zika Virus Disease |
|
Intrauterine growth retardation, Subcutaneous hemorrhage, Skin rash, Maculopapular exanthema, Mye... |
ORPHA:448237 |
Tularemia |
|
Respiratory distress, Otitis media, Cervical lymphadenopathy, Pneumonia, Inflammatory abnormality... |
ORPHA:3392 |
Celiac Disease, Susceptibility To, 1 |
|
Steatorrhea, Alopecia, Eczema, Diarrhea, Vomiting, Macrocytic anemia, Weight loss, Decreased circ... |
OMIM:212750 |
Mogs-Cdg |
|
Respiratory distress, Apnea, High palate, Hepatomegaly, Alopecia, Long eyelashes, Generalized ede... |
ORPHA:79330 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland... |
OMIM:614929 |
Primary Myelofibrosis |
|
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Extramedullary hematopoiesis, Hepato... |
ORPHA:824 |
Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Abnormal salivary gland morphology, Increased circulating I... |
ORPHA:482 |
Scleroderma |
|
Keratitis, Alopecia, Myocarditis, Osteolytic defects of the phalanges of the hand, Uveitis, Pruri... |
ORPHA:801 |
Squamous Cell Carcinoma Of The Esophagus |
|
Esophageal carcinoma, Cough, Feeding difficulties in infancy, Nausea and vomiting, Lymphadenopathy |
ORPHA:99977 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Colitis, Hepatomegaly, Folliculitis, Hemophagocytosis, Splenomegaly, Recurrent skin infections, A... |
OMIM:300635 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis |
OMIM:610227 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent infection of the gastrointestinal tract, Osteopenia, Diarrhea, Aplastic anemia, Pneumon... |
ORPHA:486 |
Proteus Syndrome |
|
Epidermal acanthosis, Lymphangioma, Splenomegaly, Limbal dermoid, Downslanted palpebral fissures,... |
OMIM:176920 |
Aquagenic Palmoplantar Keratoderma |
|
Atopic dermatitis, Palmar pruritus, Edema, Palmoplantar keratoderma, Excessive skin wrinkling on ... |
ORPHA:498359 |
Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Flushing, Dermatographic urticaria, Abdominal pain, Telangiectasia ma... |
ORPHA:79455 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Vasculitis in the skin, Lymphadenitis, Abnormal circulating interleukin concentration, Pneumonia,... |
ORPHA:319552 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Growth delay, Urticaria, Increased circulating IgA level, Hepatomegaly, Abdominal pain, Peritonit... |
ORPHA:343 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Colitis, Lymphocytosis, Ski... |
OMIM:301074 |
Ichthyosis Prematurity Syndrome |
|
Asthma, Epidermal acanthosis, Dermatographic urticaria, Follicular hyperkeratosis, Allergic rhini... |
OMIM:608649 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Ileus, Decreased circulating IgA level, Failure to thrive, Hepatomegaly, Constipation, Flexion co... |
OMIM:613327 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Exocrine pancreatic insufficiency, Acute respiratory distress syndrome, Sparse hair, Craniosynost... |
OMIM:620005 |
Aicardi-Goutieres Syndrome 5 |
|
Flexion contracture, Dry skin, Chilblains, Feeding difficulties in infancy, Scaling skin, Arthrop... |
OMIM:612952 |
Incontinentia Pigmenti |
|
Keratitis, Sparse hair, Alopecia, Maculopapular exanthema, Coarse hair, Delayed eruption of teeth... |
OMIM:308300 |
Sjögren-Larsson Syndrome |
|
Joint stiffness, Urticaria, Short stature, Erythema, Dry skin, Hyperkeratosis, Ichthyosis, Inflam... |
ORPHA:816 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Vasculitis in the skin, Alopecia, Cervical lymphadenopathy, Myocarditis, Enlargemen... |
ORPHA:50918 |
Atrophoderma Vermiculata |
|
Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Pruritus, Hyperkeratotic papule |
ORPHA:79100 |
Ataxia-Telangiectasia |
|
Leukemia, Decreased circulating IgA level, Conjunctival telangiectasia, T lymphocytopenia, Recurr... |
OMIM:208900 |
Lupus Erythematosus Tumidus |
|
Deep dermal perivascular inflammatory infiltrate |
ORPHA:90283 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Superficial dermal perivascular inflammatory infiltrate, Pruritus |
OMIM:618531 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections |
OMIM:244850 |
Insulin-Resistance Syndrome Type A |
|
Generalized hirsutism, Hyperkeratosis, Delayed puberty |
ORPHA:2297 |
Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Abnormality of the lymphatic system, Septic arthritis |
ORPHA:36237 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Epidermal acanthosis, Erythema |
OMIM:617526 |
Localized Scleroderma |
|
Dental malocclusion, Gastroesophageal reflux, Flexion contracture, Patchy alopecia, Abnormality o... |
ORPHA:90289 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Decreased circulating IgA level, Feeding difficulties, Recurrent skin infectio... |
OMIM:617744 |
Mycosis Fungoides |
|
Psoriasiform dermatitis, Eczema, Lymphadenopathy, Pruritus |
OMIM:254400 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Epidermal acanthosis, Erythema |
OMIM:617525 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Recurrent sinopulmonary infections, Recurrent infection of the g... |
OMIM:609529 |
Pseudo-Torch Syndrome 3 |
|
Apnea, Leukocytosis, Lymphadenitis, Respiratory insufficiency, Congenital thrombocytopenia, Anemi... |
OMIM:618886 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Failure to thrive, Oral mucosal blisters, Palmoplantar hyperkeratosis, Abnormal fingernail morpho... |
ORPHA:89838 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Stomach cancer, Alopecia, Diarrhea, Furrowed tongue, Intestinal polyposis, Hypoplas... |
ORPHA:2930 |
Cyclic Neutropenia |
|
Otitis media, Cervical lymphadenopathy, Lymphadenopathy, Recurrent tonsillitis, Peritonitis, Cycl... |
ORPHA:2686 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Epidermal acanthosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Ectropion... |
OMIM:612281 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Cleft palate, Hepatic failure, Cervical lymphadenopathy, Elevated circulating aspar... |
OMIM:619573 |
Mantle Cell Lymphoma |
|
Splenomegaly, Anorexia, Abnormality of the gastrointestinal tract, Weight loss, Lymphadenopathy |
ORPHA:52416 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Erythema, Fragile skin, Palmoplantar hyperkeratosis, Esophageal stricture, Cutaneous photosensiti... |
ORPHA:158673 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Urticaria, Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell recep... |
OMIM:618987 |
Alveolar Echinococcosis |
|
Vomiting, Hepatic cysts, Pedal edema, Weight loss, Jaundice, Pancreatic cysts, Increased circulat... |
ORPHA:284 |
Lig4 Syndrome |
|
Telangiectasia of the skin, Malabsorption, Low anterior hairline, Hepatomegaly, Leukocytosis, Ups... |
ORPHA:99812 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Joint swelling, Increased circulating IgA level, Neutrophilia, Leukocytosis, Skin rash, Abdominal... |
OMIM:617099 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent gastroenteritis, Failure to thrive, Decreased circulating IgA level, Recurrent upper an... |
ORPHA:275 |
Congenital Disorder Of Glycosylation, Type If |
|
Failure to thrive, Flexion contracture, Feeding difficulties, Dry skin, Hyperkeratosis, Scaling s... |
OMIM:609180 |
Incontinentia Pigmenti |
|
Keratitis, Telangiectasia of the skin, Alopecia, Delayed eruption of teeth, Uveitis, Osteolysis, ... |
ORPHA:464 |
Pili Torti-Onychodysplasia Syndrome |
|
Alopecia universalis, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Congenital onycho... |
ORPHA:2890 |
Bloom Syndrome |
|
Hypertrichosis, Leukemia, Intrauterine growth retardation, Growth delay, Decreased circulating Ig... |
OMIM:210900 |
Immunodeficiency, Common Variable, 10 |
|
Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Frequent Giardia lambli... |
OMIM:615577 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacyt... |
ORPHA:60026 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Anisocytosis, Abnormality of the dentition, Diarrhea, Genu val... |
ORPHA:231226 |
Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
Okur-Chung Neurodevelopmental Syndrome |
|
High palate, Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:617062 |
Coccidioidomycosis |
|
Respiratory distress, Pancreatitis, Abscess, Osteolysis, Pneumonia, Pruritus, Pericarditis, Abnor... |
ORPHA:228123 |
Ige Responsiveness, Atopic |
|
Allergic rhinitis, Eczema |
OMIM:147050 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Enterocolitis, Decreased circulating total IgM, Interstitial pne... |
OMIM:614878 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Pruritus, Abnormality of the knee, Skin vesicle, Skin fragility with non-scarring blistering, Par... |
ORPHA:158681 |
Immunodeficiency 76 |
|
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Ch... |
OMIM:619164 |
Rothmund-Thomson Syndrome, Type 1 |
|
Sparse hair, Absent eyebrow, Short stature, Osteoporosis, Hyperkeratosis, Conical tooth, Absent e... |
OMIM:618625 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Megaloblastic anemia, Failure to thrive, Abnormality of hair texture, Gastroesophageal reflux, Fe... |
ORPHA:79351 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Asthma, Recurrent bacterial skin infections, Atopic dermatitis, Anal canal squamous carcinoma, Ch... |
ORPHA:217390 |
Ichthyosis Vulgaris |
|
Absent keratohyalin granules, Dry skin |
OMIM:146700 |
Idiopathic Localized Lipodystrophy |
|
Erythema, Scaling skin |
ORPHA:90158 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Failure to thrive, Growth delay, Oral mucosal blisters, Feeding difficulties, Craniosynostosis, R... |
ORPHA:79396 |
Keratolytic Winter Erythema |
|
Pustule |
ORPHA:50943 |
Candidiasis, Familial, 8 |
|
Blepharitis, Seborrheic dermatitis |
OMIM:615527 |
Immunodeficiency 7 |
|
Failure to thrive, Lymphadenopathy, Hypereosinophilia |
OMIM:615387 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Palmoplantar hyperkeratosis, Hyperkeratosis,... |
OMIM:602540 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Conjunctival hamartoma, Cutaneous photosensitivity, Hyperkeratosis, Ichthyosis, Skin ulcer, Palmo... |
ORPHA:312 |
Nocardiosis |
|
Keratitis, Respiratory distress, Lymphadenitis, Vomiting, Pneumonia, Pericarditis, Weight loss, R... |
ORPHA:31204 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Atopic dermatitis, Pneumonia |
OMIM:617638 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Failure to thrive, Decreased circulating IgG level, Mucoid diarrhea, Inflammatio... |
OMIM:615767 |
Deafness-Craniofacial Syndrome |
|
Alopecia |
OMIM:125230 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, Abnormal... |
ORPHA:129 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Hepatomegaly, Splenomegaly, Short stature, Leukopenia, Thrombocytope... |
ORPHA:381 |
Carcinoma Of Esophagus |
|
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Cough, Weight loss, Dysphagia, O... |
ORPHA:70482 |
Chronic Mucocutaneous Candidiasis |
|
Abnormal dental enamel morphology, Cheilitis, Dyspareunia, Skin rash, Erythema, Cough, Abnormal f... |
ORPHA:1334 |
Microgastria-Limb Reduction Defect Syndrome |
|
Anal atresia, Failure to thrive, Hepatomegaly, Hiatus hernia, Gastroesophageal reflux, Feeding di... |
ORPHA:2538 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Asthma, Failure to thrive, Eosinophilic liver infiltration, Short stature, Atopic dermatitis, Eos... |
OMIM:618999 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent gastroenteritis, Airway obstruction, Hypertrichosis, Enlarged kid... |
ORPHA:505248 |
Popov-Chang syndrome |
|
Failure to thrive, Lymphopenia, Gastroesophageal reflux, Feeding difficulties, Short stature, Coa... |
OMIM:618428 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperconvex nail, Linear arrays of macular hype... |
OMIM:601952 |
Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Abdominal distention, Spherocytosis, Splenomegaly, Pallor, Extramed... |
ORPHA:822 |
Panniculitis-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Vasculitis in the skin... |
ORPHA:90159 |
Monilethrix |
|
Abnormal eyebrow morphology, Sparse hair, Patchy alopecia, Brittle hair, Abnormal eyelash morphol... |
ORPHA:573 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomeg... |
OMIM:613101 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Constipation, Patellar dislocation, Abnormal shape of the palpebral fissure, Patellar aplasia, Pa... |
ORPHA:495818 |
Hypotrichosis 6 |
|
Pili torti, Sparse hair, Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Follicular hyp... |
OMIM:607903 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Failure to thrive, Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, In... |
OMIM:618048 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Abnormality of the wrist, Hyperkeratosis, Pruritus, Nail dystrophy, Abnormality of the elbow, Abn... |
ORPHA:89843 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Constipation, Diarrhea, Vomiting, Uveitis, Periorbital edema, Pericarditis, Splenomegaly, Periton... |
ORPHA:32960 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Pallor, Eosinophilia, Weight loss, Dyspnea, Anemia, Thrombocytopenia, Abnormality o... |
ORPHA:517 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski... |
OMIM:618944 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Flexion contracture, Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Ichthyosis, ... |
ORPHA:79503 |
Bone Marrow Failure Syndrome 3 |
|
Exocrine pancreatic insufficiency, Sparse hair, Eczema, Congenital hip dislocation, Aplastic anem... |
OMIM:617052 |
Aggressive Systemic Mastocytosis |
|
Abdominal cramps, Urticaria, Maculopapular exanthema, Diarrhea, Increased proportion of CD25+ mas... |
ORPHA:98850 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:611926 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Abnormality of ... |
ORPHA:231214 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Abscess, Diarrhea, Vomiting, Myocarditis, Pneumonia, Septic arthritis, Incr... |
ORPHA:36234 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Urticaria, Cutis marmorata, Myocarditis, Abnormal pleura morphology, Increased inflammatory respo... |
ORPHA:183 |
Erosive Pustular Dermatosis Of The Scalp |
|
Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Pustule |
ORPHA:222 |
Porokeratosis Of Mibelli |
|
Cutaneous photosensitivity, Porokeratosis, Hyperkeratosis, Pruritus |
ORPHA:735 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Anal atresia, Hypodontia, Sparse eyebrow, Small for gestational age, Thin vermilion border, Short... |
OMIM:618419 |
Immunodeficiency 44 |
|
Decreased circulating IgA level, Lymphopenia, Abnormal circulating IgG level, Decreased circulati... |
OMIM:616636 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Sparse scalp hair, Absent hair, Absent eyebrow, Sparse eyebrow, Sparse eyelashes, Trichorrhexis n... |
ORPHA:1010 |
Dyskeratosis Congenita |
|
Telangiectasia of the skin, Hepatomegaly, Sparse hair, Hepatic failure, Alopecia, Tracheoesophage... |
ORPHA:1775 |
Pediatric Systemic Lupus Erythematosus |
|
Discoid lupus rash, Alopecia, Decreased serum complement C4, Diarrhea, Vomiting, Microangiopathic... |
ORPHA:93552 |
Immunodeficiency 66 |
|
Pustule, Recurrent skin infections |
OMIM:618847 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Asthma, Narrow mouth, Short palpebral fissure, Hypodontia, Feeding difficulties, Thin eyebrow, Eo... |
OMIM:618092 |
Eosinophilic Gastroenteritis |
|
Asthma, Malabsorption, Leukocytosis, Steatorrhea, Abdominal pain, Atopic dermatitis, Eosinophilia... |
ORPHA:2070 |
Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Recurrent otitis media, Cleft palate, Osteopenia, Osteoporosis... |
OMIM:612562 |
Esophagitis, Eosinophilic, 2 |
|
Failure to thrive, Eosinophilia, Vomiting, Esophagitis, Dysphagia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Failure to thrive, Eosinophilia, Vomiting, Esophagitis, Dysphagia |
OMIM:610247 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
High palate, Asthma, Hypertrichosis, Short stature, Hepatosplenomegaly, Downslanted palpebral fis... |
OMIM:619750 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
ORPHA:859 |
Felty Syndrome |
|
Hepatomegaly, Osteolysis, Bone marrow hypocellularity, Pericarditis, Rhinitis, Abnormal joint mor... |
ORPHA:47612 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Ichthyosis, Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Smith-Kingsmore Syndrome |
|
Wide mouth, Decreased circulating IgA level, Feeding difficulties, Long philtrum, Large for gesta... |
OMIM:616638 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Cutis marmorata, Eczema, Esophageal varix, Pancytopenia, Bone marrow hypocellularit... |
OMIM:615688 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Failure to thrive, Hypertrichosis, Cutis laxa, Eczema, Dry skin, Elevated hepatic transaminase, M... |
OMIM:612379 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... |
ORPHA:231222 |
Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Hypertrichosis, Viral hepatitis, Periportal fibrosis, Hirsut... |
ORPHA:101330 |
Wiskott-Aldrich Syndrome |
|
Melena, Eczema, Diarrhea, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin ... |
OMIM:301000 |
Jessner Lymphocytic Infiltration Of The Skin |
|
Abnormal lymphocyte morphology, Cutaneous photosensitivity, Erythema, Pruritus |
ORPHA:33314 |
Immunodeficiency 61 |
|
Malabsorption, Frequent Giardia lamblia infestation, Arthritis, Recurrent sinusitis, Colon cancer... |
OMIM:300310 |
Ichthyosis, Spastic Quadriplegia, And Mental Retardation |
|
Asthma, Flexion contracture, Erythema, Dry skin, Hyperkeratosis, Ichthyosis, Scaling skin, Growth... |
OMIM:614457 |
Immunodeficiency 50 |
|
Lymphopenia, Eczema, Decreased circulating antibody level, Neutropenia, Recurrent respiratory inf... |
OMIM:300988 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Cheilitis, Failure to thrive, Gastroesophageal reflux, Pallor, Anorexia, Eo... |
ORPHA:90045 |
Necrobiosis Lipoidica |
|
Telangiectasia of the skin, Inflammatory abnormality of the skin, Abnormality of neutrophil physi... |
ORPHA:542592 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Joint stiffness, Joint dislocation, Hiatus hernia, Gastroesophageal reflux, Severe short stature,... |
ORPHA:1901 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Diarrhea, Incr... |
OMIM:618495 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Abdominal p... |
ORPHA:2494 |
Rothmund-Thomson Syndrome Type 2 |
|
High palate, Facial edema, Sparse hair, Cleft palate, Osteopenia, Abnormality of the dentition, D... |
ORPHA:221016 |
H Syndrome |
|
Hypertrichosis, Alopecia, Enlarged kidney, Osteolysis, Facial telangiectasia, Hypogonadism, Cleft... |
ORPHA:168569 |
Immunodeficiency 47 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Elevated circulating aspartate aminotransferase ... |
OMIM:300972 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Respiratory distress, Joint swelling, Epidermal acanthosis, Osteomyelitis, Hepatomegaly, Neutroph... |
OMIM:612852 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Maculopapular exanthema, Hypereosinophilia, Pruritus, Leukemia |
ORPHA:157991 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Perioral erythema, Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Paronychia, Diar... |
OMIM:201100 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Perioral erythema, Blepharitis, Bloody diarrhea, Failure to thrive, Pustule, Paronychia, Villous ... |
OMIM:614328 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Dislocated radial head, Anal atresia, Delayed ossification of carpal bones, Lymphopenia, Eosinoph... |
OMIM:617425 |
Bjornstad Syndrome |
|
Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th... |
OMIM:262000 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Epidermal acanthosis, Finger joint hypermobility, Long philtrum, Follicular hyperkeratosis, Nail ... |
OMIM:615225 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Erythroderma |
OMIM:615024 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Perianal abscess |
OMIM:613148 |
Reynolds Syndrome |
|
Telangiectasia of the skin, Abnormal gastric mucosa morphology, Mucosal telangiectasiae, Hepatome... |
ORPHA:779 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Neoplasm of the oral cavity, Hepatitis, Hyperkeratosis,... |
ORPHA:525 |
Igg4-Related Ophthalmic Disease |
|
Keratitis, Pancreatitis, Abnormal morphology of bony orbit of skull, Enlarged lacrimal glands, Pe... |
ORPHA:449563 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in... |
ORPHA:69126 |
Autosomal Agammaglobulinemia |
|
High palate, Failure to thrive, Sinusitis, Osteomyelitis, Malabsorption, Skin rash, Recurrent ski... |
ORPHA:33110 |
Stevens-Johnson Syndrome |
|
Pancreatitis, Dyspareunia, Diarrhea, Abnormal pleura morphology, Gastrointestinal hemorrhage, Wei... |
ORPHA:36426 |
Congenital Non-Bullous Ichthyosiform Erythroderma |
|
Keratitis, Failure to thrive, Ectropion, Alopecia, Short stature, Ichthyosis, Pruritus, Erythrode... |
ORPHA:79394 |
Trichothiodystrophy 3, Photosensitive |
|
Congenital nonbullous ichthyosiform erythroderma, Eclabion, Carious teeth, Pyloric stenosis, Intr... |
OMIM:616395 |
Simple Cryoglobulinemia |
|
Vascular skin abnormality, Complement deficiency, Monoclonal elevation of circulating IgA, Gastro... |
ORPHA:91139 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Colitis, Hepatosplenomegaly, Sterile abscess, Arthritis, Acne, Thrombocytosis, Micro... |
OMIM:604416 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Eczema, Diar... |
OMIM:619991 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Pruritus |
OMIM:146750 |
Indolent Systemic Mastocytosis |
|
Abdominal cramps, Urticaria, Flushing, Hepatomegaly, Abnormal mast cell morphology, Skin rash, Sp... |
ORPHA:98848 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent gastroenteritis, Hepatomegaly, Pulmonary hemorrhage, Diarrhea, Absence of lymph node ge... |
ORPHA:79124 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Osteopor... |
ORPHA:100024 |
Esophageal Atresia |
|
Respiratory distress, Cleft palate, Tracheoesophageal fistula, Vomiting, Pyloric stenosis, Pulmon... |
ORPHA:1199 |
Viss Syndrome |
|
High palate, Chronic gastritis, Alopecia, Eczema, Pulmonary artery aneurysm, Genu valgum, Broad u... |
OMIM:619472 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Pancreatitis, Tracheoesophageal fistula, Abnormal pleura morphology, Skin u... |
ORPHA:537 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Failure to thrive, Cheilitis, Alopecia universalis, Anoperineal fistula, Sparse hair, Recurrent s... |
ORPHA:158668 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Gastritis, Folate-unresponsive megaloblastic anemia, Diarrhea, Telecanthus,... |
ORPHA:2575 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Keratitis, Blepharitis, Ectropion, Folliculitis, Sparse eyebrow, Sparse eyelashes, Dry skin, Foll... |
OMIM:308800 |
Dubowitz Syndrome |
|
High palate, Otitis media, Eczema, Aplastic anemia, Delayed eruption of teeth, Carious teeth, Int... |
OMIM:223370 |
Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Parakeratosis |
OMIM:148500 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Steatorrhea, Hypergonadotropic hypogonadism, Osteopenia, Diarrhea, Nonimmune hydrop... |
OMIM:212065 |
Acrodermatitis Enteropathica |
|
Cheilitis, Abnormality of the tongue, Alopecia, Glossitis, Furrowed tongue, Skin ulcer, Weight lo... |
ORPHA:37 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Pili torti, Hypoplastic toenails, Sparse scalp hair, Patchy alopecia, Sparse eyelashes, Alopecia,... |
OMIM:613573 |
Epidermolysis Bullosa, Junctional 5A, Intermediate |
|
Onycholysis of distal fingernails, Absent pubic hair, Nail dystrophy, Onychogryposis, Absent axil... |
OMIM:619816 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Increased circulating antibody level, Sinusitis, Failure to thrive, Hepatomegaly, Lymphopenia, Fl... |
OMIM:617591 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility, Abnormality of the lymph nodes |
OMIM:136580 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive, Otitis media, Purulent rhinitis, Diarrhea, B lymphocytopenia, Arthritis, T lym... |
OMIM:601457 |
Pfapa Syndrome |
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Malabsorption, Hepatomegaly, Abnormal oral cavity morphology, Abdominal pain, Splenomegaly, Arthr... |
ORPHA:42642 |
Epidermodysplasia Verruciformis |
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Seborrheic dermatitis, Pustule, Recurrent skin infections |
ORPHA:302 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
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Epidermal acanthosis, Congenital nonbullous ichthyosiform erythroderma, Abnormal hair morphology,... |
OMIM:242100 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
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Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Short st... |
OMIM:615952 |
Glycoprotein Storage Disease |
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Gout, Splenomegaly |
OMIM:232900 |
Porphyria Cutanea Tarda |
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Onycholysis, Facial hypertrichosis, Alopecia |
OMIM:176100 |
Familial Cold Autoinflammatory Syndrome 2 |
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Urticaria, Leukocytosis, Splenomegaly, Skin rash, Abdominal pain, Arthritis, Recurrent aphthous s... |
OMIM:611762 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
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Failure to thrive, Aspiration pneumonia, Downslanted palpebral fissures, Ichthyosis, Palmoplantar... |
OMIM:609528 |
Trichothiodystrophy |
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Multiple joint contractures, Craniosynostosis, Osteopenia, Eczema, Panhypogammaglobulinemia, Cari... |
ORPHA:33364 |
Transgrediens Et Progrediens Palmoplantar Keratoderma |
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High palate, Recurrent bacterial skin infections, Flexion contracture of finger, Recurrent cutane... |
ORPHA:495 |
Rothmund-Thomson Syndrome Type 1 |
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Facial edema, Sparse hair, Osteopenia, Abnormality of the dentition, Diarrhea, Aplastic anemia, V... |
ORPHA:221008 |
Immunodeficiency 69 |
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Leukocytosis, Splenomegaly, Skin rash, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
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Nail dystrophy, Alopecia |
OMIM:618373 |
Adenocarcinoma Of The Esophagus |
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Gastroesophageal reflux, Barrett esophagus, Esophageal carcinoma, Cough, Feeding difficulties in ... |
ORPHA:99976 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
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Hepatomegaly, Conjunctivitis, Hemophagocytosis, Splenomegaly, Skin rash, Thrombocytopenia, Edema,... |
OMIM:603552 |
Majeed Syndrome |
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Failure to thrive, Malabsorption, Osteomyelitis, Hepatomegaly, Increased bone mineral density, Le... |
ORPHA:77297 |
White Sponge Nevus 2 |
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Epidermal acanthosis |
OMIM:615785 |
Aicardi-Goutieres Syndrome 1 |
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Petechiae, Hepatomegaly, Multiple gastric polyps, Splenomegaly, Short stature, Erythema, Chilblai... |
OMIM:225750 |
Hereditary Acrokeratotic Poikiloderma |
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Telangiectasia of the skin, Urticaria, Abnormality of the dentition, Eczema, Abnormal pigmentatio... |
ORPHA:2907 |
Odontoonychodermal Dysplasia |
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Widely spaced primary teeth, Orthokeratosis, Sparse eyebrow, Short nail, Dry hair, Epidermal acan... |
OMIM:257980 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
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Oral mucosal blisters, Palmar hyperkeratosis, Abnormality of the dentition, Plantar hyperkeratosi... |
ORPHA:79399 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
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Ridged nail, Alopecia |
OMIM:614564 |
Pemphigus Foliaceus |
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Pustule, Erythema, Abnormal oral mucosa morphology, Acantholysis, Scaling skin, Crusting erythema... |
ORPHA:79481 |
Non-Epidermolytic Palmoplantar Keratoderma |
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Skin ulcer, Pruritus, Erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:2337 |
Hennekam-Beemer Syndrome |
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High palate, Telangiectasia of the skin, Urticaria, Failure to thrive, Abdominal pain, Upslanted ... |
ORPHA:2135 |
Waldenström Macroglobulinemia |
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Urticaria, Hepatomegaly, Cutis marmorata, Diarrhea, Pedal edema, Periorbital edema, Gastrointesti... |
ORPHA:33226 |
Clouston Syndrome |
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Nail dysplasia, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Absent pubic hair, Alop... |
OMIM:129500 |
Infantile Digital Fibromatosis |
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Epidermal acanthosis, Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
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Cleft upper lip, Epidermal acanthosis, Mild intrauterine growth retardation, Orthokeratosis, Para... |
OMIM:308050 |
Cardiofaciocutaneous Syndrome 1 |
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High palate, Constipation, Sparse hair, Osteopenia, Abnormality of the dentition, Vomiting, Downs... |
OMIM:115150 |
Eosinophilic Fasciitis |
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Muscular edema, Abnormal eosinophil morphology, Eosinophilia, Myositis, Arthritis, Fasciitis, Ede... |
ORPHA:3165 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Reduced subcutaneous adipose tissue, Apnea, Urticaria, High palate, Wide mouth, Dental crowding, ... |
OMIM:619503 |
Systemic Lupus Erythematosus 17 |
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Optic neuritis, Lymphopenia, Alopecia, Decreased serum complement C3, Leukopenia, Decreased serum... |
OMIM:301080 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
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Abnormality of the tongue, Sparse hair, Hypodontia, Alopecia, Abnormality of the dentition, Abnor... |
ORPHA:659 |
Primary Sclerosing Cholangitis |
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Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Osteopenia, Cholestasis, Uveitis,... |
ORPHA:171 |
Dermatitis, Atopic |
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