Central Centrifugal Cicatricial Alopecia |
|
Scarring alopecia of scalp |
OMIM:618352 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia Areata 2 |
|
Alopecia totalis, Alopecia universalis, Patchy alopecia, Alopecia of scalp |
OMIM:610753 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Alopecia-Mental Retardation Syndrome 1 |
|
Alopecia universalis |
OMIM:203650 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Alopecia Universalis Congenita |
|
Alopecia universalis, Absent eyebrow, Absent pubic hair, Absent eyelashes, Absent axillary hair |
OMIM:203655 |
Pili Gemini |
|
Abnormal hairshaft morphology, Hair shafts flattened at irregular intervals and twisted through 1... |
ORPHA:79492 |
Hypotrichosis 5 |
|
Sparse eyelashes, Alopecia, Thin eyebrow, Absent pubic hair, Absent axillary hair |
OMIM:612841 |
Alopecia Universalis |
|
Alopecia universalis, Absent eyebrow, Absent eyelashes, Patchy alopecia |
ORPHA:701 |
Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes |
ORPHA:55654 |
Graying Of Hair, Precocious |
|
Premature graying of hair |
OMIM:139100 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Hair-nail ectodermal dysplasia, Dystrophic toenail, Thin toenail |
OMIM:614928 |
Hypotrichosis 4 |
|
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair |
OMIM:146550 |
Alopecia Areata 1 |
|
Alopecia universalis, Patchy alopecia, Alopecia totalis, Trachyonychia, Nail pits |
OMIM:104000 |
Hypotrichosis 11 |
|
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... |
OMIM:615059 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
Atrichia With Papular Lesions |
|
Generalized papillary lesions, Sparse hair |
OMIM:209500 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
Cerebellar Ataxia And Ectodermal Dysplasia |
|
Alopecia, Sparse hair, Ectodermal dysplasia |
OMIM:212835 |
Syringocystadenoma Papilliferum |
|
Sparse scalp hair, Nevus sebaceous, Papule, Subcutaneous nodule |
ORPHA:840 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Polyclonal elevation of IgM, Lymphoma, Impaired lymphocyte transformation with phytohemagglutinin... |
OMIM:153600 |
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality |
|
Alopecia universalis, Congenital alopecia totalis |
OMIM:104130 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse pubic hair, Sparse axillary hair |
ORPHA:505 |
Dermoodontodysplasia |
|
Nail dysplasia, Dry skin, Thin skin, Trichodysplasia, Ectodermal dysplasia |
OMIM:125640 |
Hypotrichosis 2 |
|
Sparse scalp hair |
OMIM:146520 |
Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Hypotrichosis 14 |
|
Sparse body hair, Sparse hair |
OMIM:618275 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Nail pits, Congenital alopecia totalis, Ridged nail |
ORPHA:169095 |
Hypotrichosis 1 |
|
Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Sparse axillary hair, Sparse pub... |
OMIM:605389 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Abnormal fingernai... |
ORPHA:2722 |
Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Parc Syndrome |
|
Absent eyebrow, Absent eyelashes, Alopecia |
OMIM:600331 |
Hypertrichosis Lanuginosa Congenita |
|
Congenital, generalized hypertrichosis, Double eyebrow |
OMIM:145700 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... |
ORPHA:3361 |
Cutis Laxa, Autosomal Dominant 2 |
|
Cutis laxa, Premature skin wrinkling |
OMIM:614434 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Sparse or absent eye... |
ORPHA:444 |
Dermoodontodysplasia |
|
Sparse scalp hair, Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Hypohidrosis, Dry s... |
ORPHA:1660 |
Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly |
|
Partial duplication of eyebrows, Hyperextensible skin of face, Periorbital wrinkles, Hyperextensi... |
OMIM:227210 |
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Alopecia, Sparse body hair, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Dyst... |
OMIM:617294 |
Hypotrichosis 10 |
|
Sparse body hair, Sparse eyebrow, Sparse eyelashes |
OMIM:614238 |
Pseudopili Annulati |
|
Abnormality of hair texture, Abnormality of the scalp hair |
OMIM:613241 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... |
OMIM:602032 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma |
OMIM:247640 |
Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Trichodysplasia, Alopecia of scalp |
ORPHA:79129 |
L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
Pili Bifurcati |
|
Abnormality of hair texture, Abnormal hair morphology |
ORPHA:720 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Absent isohemagglutinin level, Alopecia, Increased proportion autoreactive unrespon... |
OMIM:615559 |
Witkop Syndrome |
|
Sparse hair, Ridged nail, Fine hair, Concave nail, Nail pits, Small nail |
OMIM:189500 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia, Malignant eosinophil proliferation |
OMIM:131440 |
Oocyte Maturation Defect 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Nail dysplasia, Atrichia, Absent hair, Sparse hair, Absent eyelashes, Nail dystrophy, Concave nai... |
OMIM:614931 |
Glioma Susceptibility 9 |
|
Glioma, Renal neoplasm, Neoplasm of the lung, Leukemia, Astrocytoma |
OMIM:616568 |
Immunodeficiency 24 |
|
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... |
OMIM:615897 |
Immunodeficiency 18 |
|
Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Nail dystrophy, Alopecia |
OMIM:616487 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Nail dysplasia, Hypermelanotic macule, Palmar hyperkeratosis, Alopecia, Plantar hyperkeratosis, C... |
ORPHA:79397 |
Hidrotic Ectodermal Dysplasia |
|
Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Generalized hypotrichosis, Anonychia, ... |
ORPHA:189 |
Angioma Serpiginosum, X-Linked |
|
Fine hair, Hyperkeratosis, Sparse hair, Nail dystrophy |
OMIM:300652 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Keratosis Follicularis, Dwarfism, And Cerebral Atrophy |
|
Absent hair, Absent eyebrow, Absent eyelashes, Generalized keratosis follicularis |
OMIM:308830 |
Hypertrichosis, Congenital Generalized |
|
Congenital, generalized hypertrichosis, Hirsutism |
OMIM:307150 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Monilethrix |
|
Nail dysplasia, Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia, Nail dystrophy |
OMIM:158000 |
Acrogeria |
|
Telangiectasia of the skin, Prematurely aged appearance, Excessive wrinkled skin, Aplasia/Hypopla... |
ORPHA:2500 |
Ectodermal Dysplasia 8, Hair/Tooth/Nail Type |
|
Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Hair-nail ectod... |
OMIM:602401 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:619245 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Lymphoproliferative disorder, ... |
OMIM:614470 |
Erythroleukemia, Familial, Susceptibility To |
|
Refractory anemia with ringed sideroblasts, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acu... |
OMIM:133180 |
Fibrinolytic Defect |
|
Hyperextensible skin, Spontaneous hematomas |
OMIM:134900 |
Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:607785 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Cutis laxa, Absent pubic hair, Dry skin, Generalized... |
ORPHA:2269 |
Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
Anonychia With Flexural Pigmentation |
|
Hypermelanotic macule, Macular telangiectasia, Anonychia, Follicular hyperkeratosis, Hyperkeratos... |
ORPHA:69125 |
Elastoderma |
|
Cutis laxa, Premature skin wrinkling |
ORPHA:228240 |
Aredyld |
|
Ectodermal dysplasia, Generalized hypotrichosis |
OMIM:207780 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Nail pits, Ridged nail, Nail dystrophy, Alopecia |
OMIM:601705 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Erythema, Fragile skin, Palmoplantar hyperkeratosis, Erythematous plaque, Milia, Thin skin, Dystr... |
ORPHA:158673 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Keratosis, Focal Palmoplantar And Gingival |
|
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... |
OMIM:148730 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Lymphadenitis, Abnormal B cell count, Abnormal T cell count, Decreased circulating ... |
ORPHA:331206 |
Rothmund-Thomson Syndrome, Type 1 |
|
Recurrent otitis media, Sparse hair, Absent eyebrow, Hypothyroidism, Hyperkeratosis, Absent eyela... |
OMIM:618625 |
Oocyte Maturation Defect 12 |
|
Female infertility |
OMIM:619697 |
Tooth Agenesis, Selective, 8 |
|
Dry skin, Sparse hair, Sparse eyebrow |
OMIM:617073 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dysplasia, Dry skin, Palmoplantar hyperkeratosis, Alopecia totalis, Facial erythema, Hyperke... |
OMIM:212360 |
Atopic Keratoconjunctivitis |
|
Keratitis, Blepharitis, Dry skin, Chemosis, Loss of eyelashes, Keratoconjunctivitis sicca, Abnorm... |
ORPHA:163934 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Nail dysplasia, Leukonychia, Sparse hair, Brittle hair, Alopecia, Sparse eyebrow, Palmoplantar er... |
OMIM:104100 |
Ulerythema Ophryogenesis |
|
Dry skin, Follicular hyperkeratosis, Facial erythema, Contact dermatitis, Erythematous papule, Ac... |
ORPHA:3406 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Palmoplantar hyperhidrosis, Sparse eyebrow, Palmar hyperkeratosis, Short eyela... |
OMIM:150400 |
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Woolly scalp hair, Woolly hair, Alopecia |
OMIM:601217 |
Insulin-Resistance Syndrome Type A |
|
Generalized hirsutism, Hyperkeratosis, Subcutaneous nodule |
ORPHA:2297 |
Hypotrichosis 6 |
|
Pili torti, Sparse hair, Sparse eyebrow, Brittle hair, Sparse eyelashes, Erythema, Follicular hyp... |
OMIM:607903 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Sensorineural hearing impairment, Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Pili torti, Sparse hair, Reduced terminal:vellus ratio |
OMIM:601553 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Monocytosis, Lymphoma, Myelodysplasia, Refractory anemia, Bone marrow hypocellularity... |
OMIM:616871 |
Dermatoleukodystrophy |
|
Progeroid facial appearance, Premature skin wrinkling |
OMIM:221790 |
Hypohidrotic Ectodermal Dysplasia |
|
Failure to thrive, Abnormal hair quantity, Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodos... |
ORPHA:238468 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Autoimmune Lymphoproliferative Syndrome |
|
Urticaria, Hepatomegaly, Rheumatoid factor positive, Smooth muscle antibody positivity, Splenomeg... |
OMIM:601859 |
Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
Pili Torti |
|
Pili torti, Abnormal eyebrow morphology, Abnormality of hair texture, Brittle hair, Alopecia, Abn... |
ORPHA:2889 |
Leprosy |
|
Absent eyebrow, Verrucous papule, Alopecia, Sparse body hair, Iritis, Paralytic lagophthalmos, Te... |
ORPHA:548 |
Keratosis Follicularis-Dwarfism-Cerebral Atrophy Syndrome |
|
Absent eyebrow, Absent eyelashes, Generalized keratosis follicularis |
ORPHA:2339 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre... |
OMIM:618534 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair |
OMIM:616760 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Sparse scalp hair, Fragile nails, Dry skin, Thin skin |
OMIM:617364 |
Renal Hypodysplasia/Aplasia 2 |
|
Redundant skin |
OMIM:615721 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Myeloproliferative Disease, Autosomal Recessive |
|
Myeloproliferative disorder |
OMIM:254700 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Splenomegaly, Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Hypersplenism |
OMIM:183350 |
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails |
|
Fragile skin, Nail dystrophy, Congenital localized absence of skin |
OMIM:132000 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Abnormality of the subungual region, Skin erosion, Generalized abnormality of skin, Anonychia, Fr... |
ORPHA:79411 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Myelodys... |
OMIM:614172 |
Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis, Neoplasm of the skin |
OMIM:142630 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse body hair, Sparse hair, Thin skin, Abnormal fingernail morphology |
ORPHA:1810 |
Pseudoprogeria Syndrome |
|
Sparse hair, Absent eyebrow, Sparse eyebrow, Alopecia, Thin skin, Absent eyelashes |
ORPHA:2985 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Focal Facial Dermal Dysplasia Type I |
|
Low anterior hairline, Sparse hair, Skin dimple, Distichiasis, Absent eyelashes, Atrophic scars, ... |
ORPHA:79133 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Björnstad Syndrome |
|
Brittle hair, Alopecia |
ORPHA:123 |
Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Patchy alopecia |
ORPHA:346 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Prematurely aged appearance, Progeroid facial appearance, Alopecia, ... |
ORPHA:90153 |
Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Alopecia, Lymphadeniti... |
ORPHA:90156 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Palmoplantar hyperkeratosis, Hyperkeratosis,... |
OMIM:602540 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia universalis, Periodontitis, Sparse body hair, Abnormal eyelash morpho... |
ORPHA:1008 |
Porphyria Cutanea Tarda |
|
Alopecia, Facial hypertrichosis, Fragile skin, Cutaneous photosensitivity, Onycholysis |
OMIM:176100 |
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Pili torti, Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyel... |
ORPHA:2891 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Urticaria, Hepatomegaly, Rheumatoid factor positive, Thrombocytopenia, Nephrotic syndrome, Smooth... |
OMIM:603909 |
Oocyte Maturation Defect 10 |
|
Female infertility |
OMIM:619176 |
Monilethrix |
|
Abnormal eyebrow morphology, Sparse hair, Patchy alopecia, Brittle hair, Follicular hyperkeratosi... |
ORPHA:573 |
Skin Fragility-Woolly Hair Syndrome |
|
Woolly hair, Sparse eyebrow, Alopecia, Sparse eyelashes, Palmoplantar erythema, Fragile skin, Pal... |
OMIM:607655 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Ectodermal dysplasia, Sparse hair, Absent eyebrow, Fragile skin, Palmoplantar hyperkeratosis, Sca... |
OMIM:604536 |
Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail, Acrocyanosis |
OMIM:302000 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Hypotrichosis 8 |
|
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse eyelashes, Sparse axillary hair, S... |
OMIM:278150 |
Ectodermal Dysplasia 5, Hair/Nail Type |
|
Sparse scalp hair, Absent toenail, Hair-nail ectodermal dysplasia, Dystrophic fingernails |
OMIM:614927 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Urticaria, Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell recep... |
OMIM:618987 |
Focal Facial Dermal Dysplasia 1, Brauer Type |
|
Distichiasis, Sparse lateral eyebrow |
OMIM:136500 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... |
OMIM:607271 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Sensorineural hearing impairment, Conductive hearing impairment, Myelodysplasia, Neutropenia, Acu... |
OMIM:610738 |
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Redundant skin, Increased number of skin folds, Cutis laxa |
ORPHA:436274 |
Moynahan Syndrome |
|
Hyperkeratosis, Sparse hair, Alopecia |
ORPHA:2574 |
Hypotrichosis 7 |
|
Sparse scalp hair, Woolly hair, Sparse hair, Brittle hair, Sparse eyelashes, Sparse axillary hair... |
OMIM:604379 |
Schopf-Schulz-Passarge Syndrome |
|
Ectodermal dysplasia, Sparse hair, Onycholysis, Ridged nail, Narrow nail, Poroma, Palmoplantar ke... |
OMIM:224750 |
Kerion Celsi |
|
Inflammatory abnormality of the skin, Recurrent skin infections, Alopecia, Lymphadenopathy, Recur... |
ORPHA:499 |
Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa |
ORPHA:79148 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Myelodysplasia, Pancytopenia, Bone marrow hypocel... |
OMIM:619041 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... |
OMIM:247630 |
Crandall Syndrome |
|
Pili torti, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair |
ORPHA:202 |
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Sparse scalp hair, Hidrotic ectodermal dysplasia, Fair hair, Absent eyebrow, Sparse axillary hair... |
OMIM:601375 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Dry skin, Hypohidrosis, Abnormal fingernail morphology, Fine hair, Abnormal toenail mor... |
ORPHA:248 |
Classic Mycosis Fungoides |
|
Skin rash, Alopecia, Eczema, Erythema, Dry skin, Hyperkeratosis, Skin plaque, Skin ulcer, Abnorma... |
ORPHA:2584 |
Oculotrichodysplasia |
|
Nail dysplasia, Sparse scalp hair, Sparse axillary hair, Sparse eyelashes, Fragile nails, Sparse ... |
OMIM:257960 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Porphyria, Congenital Erythropoietic |
|
Cholelithiasis, Hypertrichosis, Absent eyebrow, Alopecia, Scleroderma, Cutaneous photosensitivity... |
OMIM:263700 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Brittle hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Hair-nail ectodermal... |
OMIM:614929 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Lumbar hypertrichosis, Sacral hypertrichosis, Anterior cervical hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Ony... |
ORPHA:1808 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Proliferating Trichilemmal Cyst |
|
Skin ulcer, Epidermoid cyst, Sparse scalp hair |
ORPHA:492 |
Fanconi Anemia, Complementation Group G |
|
Myelodysplasia, Neutropenia, Anemia, Thrombocytopenia, Leukemia |
OMIM:614082 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive |
|
Congenital absence of skin of limbs, Aplasia cutis congenita |
OMIM:600360 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, B-cell lymphoma, Lymphopenia, Decreased circulating IgG level, D... |
OMIM:619924 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Aplasia cutis congenita on trunk or limbs, Skin erosion, Palmoplantar hyperkeratosis, Abnormal fi... |
ORPHA:89838 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Keratitis, Blepharitis, Ectropion, Folliculitis, Sparse eyebrow, Sparse eyelashes, Dry skin, Foll... |
OMIM:308800 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Nail dystrophy |
ORPHA:79503 |
Vibratory Urticaria |
|
Facial erythema, Urticaria, Flushing |
OMIM:125630 |
Bullous Lichen Planus |
|
Breast aplasia |
ORPHA:33408 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Lack of skin elasticity, Aplasia/Hypoplasia of the skin, Alopecia totalis, Palmoplantar keratoder... |
ORPHA:1366 |
Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Aplasia/Hypoplasia of the skin, Macule, Dermal atrophy |
ORPHA:1962 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ... |
OMIM:618986 |
Unclassified Myelodysplastic Syndrome |
|
Leukocytosis, Multiple lineage myelodysplasia, Myelodysplasia, Bone marrow hypocellularity, Acute... |
ORPHA:98827 |
Mismatch Repair Cancer Syndrome 2 |
|
T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme |
OMIM:619096 |
Transient Bullous Dermolysis Of The Newborn |
|
Fragile skin, Milia, Nail dystrophy, Atrophic scars |
OMIM:131705 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... |
OMIM:619824 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Urticaria, Sparse hair, Alopecia, Onychogryposis of fingernail, Fingernail dysplasia, Ridged fing... |
ORPHA:2251 |
Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Facial telangiectasia, Palmoplantar ker... |
ORPHA:50944 |
Barber-Say Syndrome |
|
Failure to thrive, Generalized hirsutism, Aplasia/Hypoplasia of the eyebrow, Redundant skin, Spar... |
ORPHA:1231 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse hair, Absent eyebrow, Toenail dysplasia, Alopecia, Thin skin, Absent eyelashes, Abnormalit... |
OMIM:607823 |
Selective Igm Deficiency |
|
Keratitis, Otitis media, Rheumatoid arthritis, Lymphadenitis, Decreased specific antibody respons... |
ORPHA:331235 |
Pili Torti-Onychodysplasia Syndrome |
|
Alopecia universalis, Ectodermal dysplasia, Absent eyebrow, Brittle hair, Alopecia, Sparse body h... |
ORPHA:2890 |
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies |
|
Hirsutism, Thick eyebrow, Upslanted palpebral fissure, Horizontal eyebrow, Long eyelashes |
OMIM:618608 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Pili torti, Hypoplastic toenails, Sparse scalp hair, Ectodermal dysplasia, Patchy alopecia, Spars... |
OMIM:613573 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Recurrent bacterial skin infections, C... |
ORPHA:911 |
Bathing Suit Ichthyosis |
|
Congenital nonbullous ichthyosiform erythroderma, Ectropion, Sparse hair, Alopecia, Hypohidrosis,... |
ORPHA:100976 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Acrokeratosis, Ridged nail |
OMIM:101900 |
Reticular Dysgenesis |
|
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... |
OMIM:267500 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Sparse hair, Sparse eyebrow, Brittle hair, Sparse eyelashes, Coarse hair, Cutaneous photosensitivity |
OMIM:234030 |
Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia |
ORPHA:157991 |
Lymphedema, Primary, With Myelodysplasia |
|
Myelodysplasia, Pancytopenia, Verrucae, Leukemia, Acute myeloid leukemia, Decreased CD4:CD8 ratio |
OMIM:614038 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Decreased specifi... |
OMIM:613496 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Abnormal eyelash morphology, Ab... |
ORPHA:1818 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Low anterior hairline, Sparse hair, Epicanthus, Distichiasis, Absent lower eyelashes, Aged leonin... |
OMIM:227260 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Sparse hair, Sparse eyebrow, Sparse eyelashes, Dry skin, Hypohidrosis, Fine hair, Ridged nail, Sl... |
OMIM:129490 |
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate |
|
Sparse hair, Ectodermal dysplasia |
OMIM:129810 |
Parana Hard Skin Syndrome |
|
Generalized hirsutism, Hyperkeratosis, Thickened skin |
ORPHA:2812 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Adenomatous colonic polyposis, Colon cancer, Acute myeloid leukemia |
OMIM:246470 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Pancreatitis, Complement deficiency, Lymphadenitis, Decreased serum c... |
ORPHA:449395 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, ... |
OMIM:616100 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Nephrotic syndrome, Lymphopenia, Recurrent tonsillitis, Splenomegaly, Hepatosple... |
OMIM:618935 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphocytic interstitial pneumonia, Hepatomegaly, Splenomegaly, Recurrent urinary tract infection... |
OMIM:618495 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Pili torti, Blepharitis, Sparse hair, Brittle hair, Sparse eyelashes, Sparse body hair, Sparse ey... |
OMIM:602400 |
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Redundant skin, Cutis laxa |
ORPHA:91135 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral candidiasis, Skin ... |
OMIM:300400 |
Erythrokeratodermia Variabilis |
|
Macule, Generalized hirsutism, Hypermelanotic macule, Alopecia, Erythema, Dry skin, Patchy palmop... |
ORPHA:317 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Lymphadenitis, Eczema, Inflammation of the large intest... |
OMIM:615895 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Leukonychia, Woolly hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, ... |
OMIM:616099 |
Leukemia, Acute, X-Linked |
|
Acute leukemia |
OMIM:308960 |
Leukemia, Acute Lymphoblastic |
|
Acute lymphoblastic leukemia |
OMIM:613065 |
Leukemia, Acute Monocytic |
|
Acute monocytic leukemia |
OMIM:151380 |
Leukemia, Acute Myeloid |
|
Acute myeloid leukemia |
OMIM:601626 |
Hepatoerythropoietic Porphyria |
|
Severe photosensitivity, Recurrent bacterial skin infections, Ectropion, Skin erosion, Seborrhoei... |
ORPHA:95159 |
Aquagenic Palmoplantar Keratoderma |
|
Palmoplantar hyperhidrosis, White papule, Skin plaque, Palmoplantar keratoderma, Excessive skin w... |
ORPHA:498359 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Sparse hair, Cutis marmorata, Rheumatoid factor positive, Periungual erythema, Follicular hyperpl... |
OMIM:615934 |
Incontinentia Pigmenti |
|
Nail dysplasia, Sparse hair, Supernumerary nipple, Alopecia, Pallor, Coarse hair, Erythema, Atrop... |
OMIM:308300 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Leukonychia, Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse axillary ha... |
OMIM:613102 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Hypermelanotic macule, Palmar hyperkeratosis, Plantar hyperkeratosis, Papule, Hyperkeratosis, Mil... |
ORPHA:79399 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Sparse body hair, Anonychia, Milia, Nail dystrophy, Atrophic scars, Scarring alopecia of scalp, A... |
ORPHA:79402 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Sparse hair, Cutis laxa, Excessive wrinkled skin, Prominent superficial veins, Fine hair, Thin sk... |
OMIM:614438 |
Focal Facial Dermal Dysplasia Type Iii |
|
Prematurely aged appearance, Hypopigmented skin patches, Sparse hair, Redundant skin, Abnormal ha... |
ORPHA:1807 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Systemic lupus erythematosus, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoi... |
OMIM:619375 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 |
|
Aplastic anemia, Myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Leukemia |
OMIM:614743 |
Erythrokeratodermia Variabilis Et Progressiva 2 |
|
Palmoplantar keratoderma, Hypertrichosis, Erythema |
OMIM:617524 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Nephrotic syndrome, Systemic lupus erythematosus, Recurrent tonsillitis, Decreased serum compleme... |
OMIM:613779 |
Absence Of Fingerprints-Congenital Milia Syndrome |
|
Milia, Thin skin, Hypohidrosis |
ORPHA:1658 |
Woolly Hair, Autosomal Dominant |
|
Woolly hair, Coarse hair, Dry hair, Slow-growing hair, Abnormal hair morphology |
OMIM:194300 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Loss of eyelashes |
ORPHA:2821 |
Griscelli Syndrome, Type 1 |
|
Melanin pigment aggregation in hair shafts, Silver-gray hair, White eyebrow, White eyelashes, Lar... |
OMIM:214450 |
N Syndrome |
|
Hearing impairment, Leukemia, Neoplasm |
OMIM:310465 |
Deafness-Craniofacial Syndrome |
|
Alopecia |
OMIM:125230 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Congenital nonbullous ichthyosiform erythroderma, Ectropion, Congenital ichthyosiform erythroderm... |
OMIM:242100 |
Cole Disease |
|
Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis |
OMIM:615522 |
Li-Fraumeni Syndrome |
|
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... |
ORPHA:524 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Central adrenal insufficiency, ... |
OMIM:615577 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... |
ORPHA:2585 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Nephrotic syndrome, Decreased specific pneumococcal antibody level, Podocyte foot proces... |
OMIM:617006 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, Abnormal... |
ORPHA:129 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Alopecia, Anemia, Eczema, Eosinophilia, Glomerulonephritis, Aut... |
OMIM:304790 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Alopecia, Palmoplantar hyperker... |
ORPHA:79395 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Multiple myeloma, Hemophagocytosis, T-cell lymphoma, Pancytopenia, Burkitt lymphoma, Splenomegaly... |
ORPHA:158057 |
Olmsted Syndrome, X-Linked |
|
Blepharitis, Posterior blepharitis, Subungual hyperkeratosis, Palmoplantar hyperkeratosis, Alopec... |
OMIM:300918 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Multiple lineage myelodysplasia, Erythroid hypoplasia, Macrocytic anemi... |
ORPHA:86841 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Palmoplantar keratoderma, Nail dystrophy, Alopecia |
OMIM:618373 |
Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Pili canaliculi |
OMIM:617252 |
Distichiasis |
|
Distichiasis |
OMIM:126300 |
Trichomegaly |
|
Long eyelashes |
OMIM:190330 |
Tristichiasis |
|
Three rows of eyelashes |
OMIM:190800 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Myelodysplasia, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, A... |
ORPHA:231401 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Congenital nonbullous ichthyosiform erythroderma, Brittle hair, Tiger tail banding, Follicular hy... |
OMIM:618546 |
Clouston Syndrome |
|
Nail dysplasia, Blepharitis, Ectodermal dysplasia, Sparse eyebrow, Alopecia, Brittle hair, Sparse... |
OMIM:129500 |
Porokeratosis Plantaris Palmaris Et Disseminata |
|
Generalized abnormality of skin, Palmoplantar hyperkeratosis, Annular cutaneous lesion, Porokerat... |
ORPHA:737 |
Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Generalized hirsutism, Prematurely aged appearance, Thick ey... |
ORPHA:2963 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Aplasia/Hypoplasia of the skin, Warfarin-induced skin necrosis, Purpura, Thin skin |
ORPHA:745 |
Granulomatous Slack Skin |
|
Redundant skin, Erythema, Cutis laxa |
ORPHA:33111 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Sparse pubic hair, Breast apla... |
ORPHA:3044 |
Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level |
OMIM:235900 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Petechiae, Bruising susceptibility, Striae distensae, Thin skin, Atypical scarring of skin |
OMIM:225310 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Onychotrichodysplasia And Neutropenia |
|
Short eyelashes, Trichorrhexis nodosa, Curly eyelashes, Sparse pubic hair, Chronic irritative con... |
OMIM:258360 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Nail dysplasia, Absent eyebrow, Supernumerary nipple, Sparse body hair, Abnorm... |
ORPHA:1809 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Telangiectasia, Ridged nail, Alopecia |
OMIM:614564 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Nail dysplasia, Congenital nonbullous ichthyosiform erythroderma, Ectropion, Sparse hair, Alopeci... |
OMIM:242300 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:616400 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis, Nail dystrophy |
OMIM:131850 |
Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... |
ORPHA:443167 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperconvex nail, Linear arrays of macular hype... |
OMIM:601952 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... |
ORPHA:169154 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... |
OMIM:618982 |
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement |
|
Hyperkeratosis, Congenital ichthyosiform erythroderma |
OMIM:270220 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Autoimmune Hepatitis |
|
Diffuse hepatic steatosis, Anti-liver cytosolic antigen type 1 antibody positivity, Jaundice, Inc... |
ORPHA:2137 |
Adult Syndrome |
|
Absent nipple, Sparse scalp hair, Toenail dysplasia, Alopecia, Fingernail dysplasia, Dry skin, Hy... |
ORPHA:978 |
Aldh18A1-Related De Barsy Syndrome |
|
Hyperextensible skin |
ORPHA:35664 |
Lichen Planopilaris |
|
Hypopigmented skin patches, Alopecia, Papule, Abnormal fingernail morphology, Hepatitis, Hyperker... |
ORPHA:525 |
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair |
|
Sparse hair, Coarse hair, Dry hair, Plantar hyperkeratosis, Onychogryposis of toenails |
OMIM:164680 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Subcutaneous nodule, Papule, Hyperkeratosis, Milia, Skin plaque, Nail dystrophy, Atrophic scars, ... |
ORPHA:89843 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections |
OMIM:244850 |
Nicolaides-Baraitser Syndrome |
|
Sparse hair, Short palpebral fissure, Alopecia, Cryptorchidism, Excessive wrinkled skin, Eczema, ... |
ORPHA:3051 |
Prolidase Deficiency |
|
Hirsutism, Generalized hirsutism, Low anterior hairline, Erythema, Dry skin, Papule, Abnormal fin... |
ORPHA:742 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Rh... |
OMIM:209950 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Nail dysplasia, Blepharitis, Keratitis, Folliculitis, Sparse eyebrow, Sparse eyelashes, Alopecia,... |
OMIM:612843 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Subcutaneous hemorrhage, Aplasia/Hypoplasia of the skin, Purpura, Thin skin, Skin ulcer |
ORPHA:743 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Ectodermal dysplasia, Sparse hair, Follicular hyperkeratosis |
OMIM:613576 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... |
OMIM:151623 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Pili torti, Sparse hair, Sparse eyebrow, Coarse hair, Sparse or absent eyelash... |
ORPHA:113 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Bjornstad Syndrome |
|
Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th... |
OMIM:262000 |
Lamellar Ichthyosis |
|
Ectropion, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Lack of skin elasticity, Dry skin, Chr... |
ORPHA:313 |
Rombo Syndrome |
|
Abnormal eyebrow morphology, Abnormal eyelash morphology, Facial telangiectasia |
OMIM:180730 |
Microphthalmia, Syndromic 8 |
|
Cryptorchidism, Blepharophimosis, Short palpebral fissure, Premature skin wrinkling |
OMIM:601349 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Urticaria, Gastritis, Alopecia, Eczema, Anti-thyroid peroxidase antibody positivity, Anti-liver c... |
ORPHA:37042 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Woolly hair, Sparse hair |
OMIM:278200 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis |
OMIM:146750 |
Porokeratosis Of Mibelli |
|
Aplasia/Hypoplasia of the skin, Cutaneous photosensitivity |
ORPHA:735 |
Adult Syndrome |
|
Absent nipple, Sparse scalp hair, Ectodermal dysplasia, Fair hair, Wide intermamillary distance, ... |
OMIM:103285 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Scaling skin, Dry skin, Cutis laxa |
OMIM:105250 |
Juvenile Hyaline Fibromatosis |
|
Papule, Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Skin ulcer, Abnormal hair morphology |
ORPHA:2028 |
Papular Xanthoma |
|
Histiocytosis |
ORPHA:158008 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Hydrocele testis, Reduced subcutaneous adipose tissue, Absent eyebrow, Facial ... |
OMIM:137940 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Abnormal intestine morphology |
OMIM:251850 |
Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair |
OMIM:608615 |
Flynn-Aird Syndrome |
|
Alopecia of scalp, Hyperkeratosis, Dermal atrophy, Alopecia |
OMIM:136300 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Sparse hair, Skin dimple, Thin skin |
ORPHA:261304 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis, ... |
OMIM:247800 |
Immunodeficiency 102 |
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Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... |
OMIM:301082 |
Alpha-Heavy Chain Disease |
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Hepatomegaly, Alopecia, Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy |
ORPHA:100025 |
Microcephalic Primordial Dwarfism, Montreal Type |
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Prematurely aged appearance, Abnormal hair quantity, Cryptorchidism, Alopecia of scalp, Dry skin,... |
ORPHA:2617 |
Hypotrichosis 12 |
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Sparse hair, Aplasia/Hypoplasia of the eyebrow, Dry hair, Sparse or absent eyelashes, Slow-growin... |
OMIM:615885 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
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Vasculitis in the skin, Lymphadenitis, Abnormal circulating interleukin concentration, Pneumonia,... |
ORPHA:319552 |
Limb-Mammary Syndrome |
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Absent nipple, Nail dysplasia, Sparse eyebrow, Alopecia, Bilateral breast hypoplasia, Dry skin, H... |
ORPHA:69085 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
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Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, Increased circulating... |
OMIM:618048 |
Cernunnos-Xlf Deficiency |
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Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... |
ORPHA:169079 |
Epidermolysis Bullosa Simplex 1C, Localized |
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Hyperkeratosis |
OMIM:131800 |
Trichoodontoonychial Dysplasia With Bone Deficiency |
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Nail dysplasia, Sparse hair, Supernumerary nipple, Nail dystrophy, Ectodermal dysplasia |
OMIM:275450 |
Asherman Syndrome |
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Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... |
ORPHA:137686 |
Autoimmune Lymphoproliferative Syndrome |
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Urticaria, Abnormal proportion of CD8-positive T cells, Gastritis, Hepatomegaly, Rheumatoid facto... |
ORPHA:3261 |
Acquired Idiopathic Sideroblastic Anemia |
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Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Immunodeficiency 14A, Autosomal Dominant |
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Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Olmsted Syndrome 1 |
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Nail dysplasia, Alopecia universalis, Sparse hair, Subungual hyperkeratosis, Nail dystrophy, Palm... |
OMIM:614594 |
Chromosome 10Q22.3-Q23.2 Deletion Syndrome |
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Breast aplasia |
OMIM:612242 |
Epidermolysis Bullosa, Junctional 5A, Intermediate |
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Onycholysis of distal fingernails, Absent pubic hair, Nail dystrophy, Onychogryposis, Absent axil... |
OMIM:619816 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
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Excessive skin wrinkling on dorsum of hands and fingers, Narrow palpebral fissure, Cigarette-pape... |
OMIM:608763 |
Leopard Syndrome 3 |
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Few cafe-au-lait spots, Dry skin, Multiple lentigines, Downslanted palpebral fissures, Numerous n... |
OMIM:613707 |
Dowling-Degos Disease 2 |
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Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Hypereosinophilic Syndrome, Idiopathic |
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Myeloproliferative disorder, Eosinophilia, Splenomegaly |
OMIM:607685 |
Coffin-Siris Syndrome 8 |
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Sparse scalp hair, Thick eyebrow, Eczema, Long eyelashes, Ptosis |
OMIM:618362 |
Congenital Erythropoietic Porphyria |
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Severe photosensitivity, Recurrent bacterial skin infections, Ectropion, Skin erosion, Seborrhoei... |
ORPHA:79277 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
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Hirsutism, Nephrotic syndrome, Decreased serum complement C3, Membranoproliferative glomeruloneph... |
OMIM:608709 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Hypertrichosis Cubiti |
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Generalized hirsutism, Thick eyebrow, Abnormal eyelid morphology, Abnormal nasolacrimal system mo... |
ORPHA:2220 |
Brooke-Spiegler Syndrome |
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Salivary gland neoplasm, Nodular changes affecting the eyelids, Skin appendage neoplasm, Abnormal... |
ORPHA:79493 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
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Alopecia |
OMIM:242510 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
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Abnormal dense granule content, Neuroblastoma, Acute monocytic leukemia, Lymphoma, Myelodysplasia... |
OMIM:601399 |
Ectodermal Dysplasia 13, Hair/Tooth Type |
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Thin eyebrow, Low anterior hairline, Sparse eyelashes |
OMIM:617392 |
Appendicitis, Proneness To |
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Abnormal large intestine morphology |
OMIM:107700 |
Olmsted Syndrome 2 |
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Alopecia universalis, Woolly hair, Sparse hair, Palmoplantar hyperkeratosis, Hyperkeratosis, Peri... |
OMIM:619208 |
Lipoid Proteinosis Of Urbach And Wiethe |
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Skin erosion, Patchy alopecia, Papule, Hyperkeratosis, Skin plaque |
OMIM:247100 |
Sézary Syndrome |
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Hepatomegaly, Splenomegaly, Alopecia, Dry skin, Abnormal immunoglobulin level, Nail dystrophy, Er... |
ORPHA:3162 |
Alazami-Yuan Syndrome |
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Hirsutism, Low anterior hairline, Thick eyebrow, Long eyelashes, Synophrys, Cryptorchidism, Highl... |
OMIM:617126 |
Autosomal Dominant Epidermolytic Ichthyosis |
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Hyperkeratosis, Cutaneous photosensitivity, Ichthyosis, Erythroderma, Skin ulcer, Palmoplantar ke... |
ORPHA:312 |
Autosomal Dominant Deafness-Onychodystrophy Syndrome |
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Hypoplastic toenails, Absent thumbnail, Absent fingernail, Absent toenail, Aplasia/Hypoplasia of ... |
ORPHA:79499 |
Hyper-Igd Syndrome |
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Increased circulating IgA level, Chronic oral candidiasis, Skin rash, Splenomegaly, Neutrophilia,... |
OMIM:260920 |
Non-Epidermolytic Palmoplantar Keratoderma |
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Skin ulcer, Erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:2337 |
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair |
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Sparse hair |
OMIM:272980 |
Trichotillomania |
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Alopecia |
OMIM:613229 |
Cortisone Reductase Deficiency 1 |
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Hirsutism, Alopecia |
OMIM:604931 |
Immunodeficiency 36 |
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Decreased circulating IgA level, B-cell lymphoma, Decreased circulating IgG level, Lymphopenia, S... |
OMIM:616005 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
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Redundant skin |
OMIM:301021 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
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Dermal translucency, Thick eyebrow |
ORPHA:529965 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
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Hypoplastic toenails, Sparse hair, Sparse eyebrow, Sparse eyelashes, Downslanted palpebral fissur... |
OMIM:616901 |
Rosselli-Gulienetti Syndrome |
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Nail dysplasia, Progressive hypotrichosis, Sparse eyebrow, Sparse eyelashes, Hypohidrosis, Palmop... |
OMIM:225000 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Sparse scalp hair, Progeroid facial appearance, Sparse eyebrow, Sparse eyelashes, Cutis laxa, Thi... |
ORPHA:75496 |
Zinc Deficiency, Transient Neonatal |
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Alopecia |
OMIM:608118 |
Immunodeficiency 50 |
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Neutropenia, Decreased circulating antibody level, Lymphopenia |
OMIM:300988 |
Ectodermal Dysplasia With Adrenal Cyst |
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Nail dysplasia, Ectodermal dysplasia, Breast hypoplasia, Hypoplastic nipples |
OMIM:129550 |
Keratoderma Hereditarium Mutilans |
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Alopecia, Papule, Hyperkeratosis, Abnormal toenail morphology, Honeycomb palmoplantar hyperkerato... |
ORPHA:494 |
Immunodeficiency 97 With Autoinflammation |
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Hemophagocytosis, Eczema, Thrombocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells,... |
OMIM:619802 |
Combined Oxidative Phosphorylation Deficiency 36 |
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Premature skin wrinkling, Upslanted palpebral fissure |
OMIM:617950 |
Chronic Myeloid Leukemia |
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Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
C3 Glomerulopathy |
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Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Decreased serum complemen... |
ORPHA:329918 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
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Blepharitis, Sparse eyelashes, Sparse body hair, Dry skin, Hypohidrosis, Slow-growing hair |
OMIM:618535 |
Hypotrichosis Simplex Of The Scalp |
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Sparse scalp hair, Atopic dermatitis, Allergic rhinitis, Hyperkeratosis, Fine hair, Scaling skin,... |
ORPHA:90368 |
Ehlers-Danlos Syndrome, Classic Type, 2 |
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Soft, doughy skin, Bruising susceptibility, Soft skin, Fragile skin, Hyperextensible skin |
OMIM:130010 |
Oliver-Mcfarlane Syndrome |
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Decreased response to growth hormone stimulation test, Sparse hair, Alopecia, Long eyelashes, Lon... |
OMIM:275400 |
Woolly Hair |
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Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... |
ORPHA:170 |
Lymphatic Filariasis |
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Hydrocele testis, Nephrotic syndrome, Orchitis, Circulating immune complexes, Urethral obstructio... |
ORPHA:2035 |
Palmoplantar Keratoderma, Nagashima Type |
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Hypergranulosis, Orthokeratotic hyperkeratosis |
OMIM:615598 |
Idiopathic Non-Lupus Full-House Nephropathy |
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Nephrotic syndrome, Skin rash, Decreased serum complement C3, Complement deficiency, Decreased se... |
ORPHA:567544 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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B lymphocytopenia, Thrombocytopenia, Decreased specific antibody response to vaccination, Uveitis... |
OMIM:614700 |
Diarrhea 9 |
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Villous atrophy |
OMIM:618168 |
Localized Junctional Epidermolysis Bullosa |
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Skin detachment, Sparse axillary hair, Sparse pubic hair, Atrophic, patchy alopecia, Fragile skin... |
ORPHA:251393 |
Chilblain Lupus |
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Discoid lupus rash, Increased circulating antibody level, Inflammatory abnormality of the skin, A... |
ORPHA:90280 |
Chylomicron Retention Disease |
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Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... |
OMIM:246700 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
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Orthokeratosis, Sparse hair, Alopecia, Sparse eyelashes, Dry skin, Ichthyosis, Cholangitis, Thick... |
OMIM:607626 |
Growth Factors, Combined Defect Of |
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Reduced subcutaneous adipose tissue, Plantar hyperkeratosis, Thin skin, Dermal atrophy |
OMIM:233805 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
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Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
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Sparse scalp hair, Sparse eyebrow, Alopecia, Hypohidrosis, Dystrophic toenail, Fine hair, Dystrop... |
ORPHA:1882 |
Odontoonychodermal Dysplasia |
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Orthokeratosis, Sparse eyebrow, Short nail, Dry hair, Hyperhidrosis, Sparse body hair, Plantar hy... |
OMIM:257980 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
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Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski... |
OMIM:618944 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
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Yellow nails, Onycholysis, Hypergranulosis, Palmoplantar hyperkeratosis, Nail dystrophy, Palmopla... |
OMIM:148700 |
Hyperkeratosis-Hyperpigmentation Syndrome |
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Papule, Hyperkeratosis, Multiple cafe-au-lait spots, Cutaneous photosensitivity |
ORPHA:1336 |
Immunodeficiency, Common Variable, 2 |
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Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par... |
OMIM:240500 |
Keratosis Pilaris Atrophicans |
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Sparse eyebrow, Erythema, Papule, Absent eyelashes, Comedo |
OMIM:604093 |
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant |
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Sparse scalp hair, Palmar pits, Comedo, Papule |
OMIM:605827 |
C1Q Deficiency |
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Systemic lupus erythematosus, Membranoproliferative glomerulonephritis, Autoimmunity, Decreased s... |
OMIM:613652 |
Complement Component 4A Deficiency |
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Systemic lupus erythematosus, Decreased serum complement C4, Glomerulonephritis, Purpura, Cutaneo... |
OMIM:614380 |
Immunodeficiency 60 And Autoimmunity |
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Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... |
OMIM:618394 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Autoinflammation With Arthritis And Dyskeratosis |
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Increased circulating IgA level, Hepatomegaly, Splenomegaly, Antinuclear antibody positivity, Inc... |
OMIM:617388 |
Epidermolysis Bullosa Dystrophica Neurotrophica |
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Diffuse slow skin atrophy, Nail dystrophy, Nail dysplasia |
OMIM:226500 |
Choroidal Atrophy-Alopecia Syndrome |
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Sparse hair, Supernumerary nipple, Sparse or absent eyelashes, Abnormal fingernail morphology, Fi... |
ORPHA:1433 |
Diarrhea 11, Malabsorptive, Congenital |
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Villous atrophy |
OMIM:618662 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
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Hirsutism, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulatin... |
OMIM:300861 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
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Thick eyebrow, Sparse hair, Widow's peak |
OMIM:606242 |
Hyperkeratosis Lenticularis Perstans |
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Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Reticulate Acropigmentation Of Kitamura |
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Hyperkeratosis |
OMIM:615537 |
Angioma Serpiginosum, Autosomal Dominant |
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Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
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Hyperkeratosis |
OMIM:167900 |
Rapp-Hodgkin Syndrome |
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Progressive alopecia, Sparse hair, Hypohidrosis, Decreased number of sweat glands, Anhidrotic ect... |
OMIM:129400 |
Colonic Varices Without Portal Hypertension |
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Colonic varices, Intestinal bleeding |
OMIM:120440 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
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Nail dysplasia, Progressive hypotrichosis, Abnormality of hair texture, Brittle hair, Sparse eyeb... |
OMIM:225060 |
Agammaglobulinemia 4, Autosomal Recessive |
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Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:613502 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
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Congenital nonbullous ichthyosiform erythroderma, Ectropion, Orthokeratosis, Dry skin, Hypohidros... |
OMIM:612281 |
Diarrhea 12, With Microvillus Atrophy |
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Villous atrophy, Microvillar PAS-positive secretory granules, Microvillus inclusions |
OMIM:619445 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Eczema, B lymphocytopenia, Erythroderma, Decreased proportion of CD4+CD25+ regulatory T cells, De... |
OMIM:606367 |
Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
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Sparse scalp hair, Ectodermal dysplasia, Sparse eyebrow, Sparse eyelashes |
OMIM:225280 |
De Barsy Syndrome |
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Prominent veins on trunk, Failure to thrive, Progeroid facial appearance, Sparse hair, Cutis laxa... |
ORPHA:2962 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Hodgkin lymphoma, B-cell lymphoma, Splenom... |
OMIM:300853 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
Cholesterol-Ester Transfer Protein Deficiency |
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Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Barber-Say Syndrome |
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Absent nipple, Inverted nipples, Hypertrichosis, Low anterior hairline, Sparse eyebrow, Sparse ey... |
OMIM:209885 |
Meckel Diverticulum |
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Meckel diverticulum |
OMIM:155140 |
Trichodental Dysplasia |
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Fine hair, Sparse hair, Brittle hair, Slow-growing hair |
OMIM:601453 |
Immunodeficiency, Common Variable, 3 |
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Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... |
OMIM:613493 |
Immunodeficiency, Common Variable, 4 |
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Decreased circulating IgG level, Decreased circulating total IgM, Recurrent sinusitis, Recurrent ... |
OMIM:613494 |
Wt Limb-Blood Syndrome |
|
Sensorineural hearing impairment, Hypoplastic anemia, Pancytopenia, Thrombocytopenia, Leukemia |
OMIM:194350 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Woolly hair, Sparse hair, Cutis laxa, Sparse eyebrow, Trichorrhexis nodosa |
OMIM:619691 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Congenital nonbullous ichthyosiform erythroderma, Ectropion, Erythema, Hypohidrosis, Hyperkeratos... |
OMIM:606545 |
X-Linked Ehlers-Danlos Syndrome |
|
Thin skin, Bruising susceptibility |
ORPHA:75497 |
Pachyonychia Congenita |
|
Palmoplantar hyperhidrosis, Cutaneous cyst, Palmar hyperkeratosis, Alopecia, Linear arrays of mac... |
ORPHA:2309 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Hidrotic ectodermal dysplasia, Sparse hair, Brittle hair, Coarse hair, Hyperkeratosis |
ORPHA:1883 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hyperextensible skin, Cutis marmorata |
OMIM:615937 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Hypertrichosis, Cutis laxa, Eczema, Dry skin, Hyperkeratosis |
OMIM:612379 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Prematurely aged appearance, Progeroid facial appearance, Alopecia, Thin skin, Nail dystrophy, Ab... |
ORPHA:90154 |
Omenn Syndrome |
|
Nephrotic syndrome, Hepatomegaly, Leukocytosis, Alopecia, Splenomegaly, Aplasia/Hypoplasia of the... |
ORPHA:39041 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Absent eyebrow, Absent eyelashes |
OMIM:182815 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, He... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, He... |
OMIM:233710 |
Primary Erythromelalgia |
|
Leukemia |
ORPHA:90026 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Fragile nails, Nail dystrophy, Plantar hyperkeratosis, Patchy alopecia |
OMIM:226650 |
19Q13.11 Microdeletion Syndrome |
|
Nail dysplasia, Sparse hair, Supernumerary nipple, Sparse or absent eyelashes, Dry skin, Thin ski... |
ORPHA:217346 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Bruising susceptibility, Palmoplantar cutis laxa, Poor wound healing, Thin skin, Atrophic scars |
OMIM:130080 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Macule, Hypopigmentation of hair, Abnormal eyelash morphology, Cutan... |
ORPHA:2885 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Pneumonia, Jaundice, Decreased proportion of naive T cells, Decreased circulating I... |
ORPHA:276 |
Huriez Syndrome |
|
Lack of skin elasticity, Dry skin, Aplasia/Hypoplasia of the skin, Abnormality of the nail, Small... |
ORPHA:384 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Nail dystrophy, Sparse hair, Sparse eyebrow, Tiger tail banding |
OMIM:619692 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Methylmalonic acid... |
ORPHA:859 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Palmoplantar keratoderma, Hyperkeratosis, Erythema, Hypergranulosis |
OMIM:617525 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy |
OMIM:613217 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... |
OMIM:617526 |
Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Thrombocytope... |
OMIM:614493 |
Dohle Bodies And Leukemia |
|