Central Centrifugal Cicatricial Alopecia |
|
Scarring alopecia of scalp |
OMIM:618352 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia Areata 2 |
|
Alopecia universalis, Patchy alopecia, Alopecia totalis, 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 Universalis Congenita |
|
Alopecia universalis, Alopecia |
OMIM:203655 |
Alopecia, Congenital |
|
Alopecia, Sparse hair |
OMIM:300042 |
Pili Gemini |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Ab... |
ORPHA:79492 |
Hypotrichosis 5 |
|
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair |
OMIM:612841 |
Alopecia Universalis |
|
Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes |
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 |
Tented Eyebrows |
|
Abnormal hair morphology |
OMIM:611426 |
Hypotrichosis 4 |
|
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair |
OMIM:146550 |
Graying Of Hair, Precocious |
|
Premature graying of hair |
OMIM:139100 |
Hypotrichosis Simplex |
|
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... |
ORPHA:55654 |
Hypotrichosis 11 |
|
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... |
OMIM:615059 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Dystrophic toenail, Alopecia, Thin toenail, Hair-nail ectodermal dysplasia, Sparse hair |
OMIM:614928 |
Alopecia Areata 1 |
|
Alopecia totalis, Alopecia universalis, Patchy alopecia, Trachyonychia, Nail pits |
OMIM:104000 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
Atrichia With Papular Lesions |
|
Generalized papillary lesions, Sparse hair |
OMIM:209500 |
Cerebellar Ataxia And Ectodermal Dysplasia |
|
Ectodermal dysplasia, Sparse hair, Alopecia |
OMIM:212835 |
Syringocystadenoma Papilliferum |
|
Subcutaneous nodule, Sparse scalp hair, Nevus sebaceous, Papule |
ORPHA:840 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Monoclonal immunoglobulin M... |
OMIM:153600 |
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality |
|
Congenital alopecia totalis, Alopecia universalis |
OMIM:104130 |
Dermoodontodysplasia |
|
Ectodermal dysplasia, Thin skin, Nail dysplasia, Dry skin, Trichodysplasia |
OMIM:125640 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse axillary hair, Alopecia, Sparse scalp hair, Sparse pubic hair |
ORPHA:505 |
Hypotrichosis 2 |
|
Sparse scalp hair |
OMIM:146520 |
Hypotrichosis 3 |
|
Sparse scalp hair |
OMIM:613981 |
Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Hypotrichosis 14 |
|
Sparse hair, Sparse body hair |
OMIM:618275 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Congenital alopecia totalis, Nail pits |
ORPHA:169095 |
Hypotrichosis 7 |
|
Sparse eyelashes, Comedo, Woolly hair, Sparse and thin eyebrow, Sparse hair |
OMIM:604379 |
Hypotrichosis 1 |
|
Sparse eyelashes, Sparse eyebrow, Sparse pubic hair, Sparse axillary hair, Sparse hair, Sparse bo... |
OMIM:605389 |
Hypotrichosis 13 |
|
Sparse and thin eyebrow, Sparse hair, Woolly hair |
OMIM:615896 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Sparse and thin eyebrow, Alopecia, Palmoplantar keratoderma, Hypoplastic toenails, Abnormal finge... |
ORPHA:2722 |
Occipital Hair, White Lock Of |
|
White hair, Abnormal hair morphology |
OMIM:310900 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan |
|
Alopecia, Sparse hair |
OMIM:203600 |
Parc Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes |
OMIM:600331 |
Hypertrichosis Lanuginosa Congenita |
|
Double eyebrow, Congenital, generalized hypertrichosis |
OMIM:145700 |
Trichodysplasia-Xeroderma Syndrome |
|
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, D... |
ORPHA:3361 |
Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Cutis Laxa, Autosomal Dominant 2 |
|
Premature skin wrinkling, Cutis laxa |
OMIM:614434 |
Dermoodontodysplasia |
|
Fingernail dysplasia, Ectodermal dysplasia, Thin skin, Melanocytic nevus, Hypohidrosis, Dry skin,... |
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 |
|
Hyperextensible skin of chest, Long eyelashes, Hyperextensible skin of face, Periorbital wrinkles... |
OMIM:227210 |
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Diffuse palmoplantar... |
OMIM:617294 |
Hypotrichosis 10 |
|
Sparse eyelashes, Sparse eyebrow, Sparse body hair |
OMIM:614238 |
Pseudopili Annulati |
|
Abnormality of the scalp hair, Abnormality of hair texture |
OMIM:613241 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia |
ORPHA:1410 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... |
OMIM:602032 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
Ringed Hair Disease |
|
Fine hair, Abnormal hair pattern |
ORPHA:169 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Alopecia of scalp, Trichodysplasia |
ORPHA:79129 |
Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma |
OMIM:247640 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I |
ORPHA:488191 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Autoimmunity, Lymphadenopathy, Splenomegaly, Increased proportion autoreactive unresponsive CD21-... |
OMIM:615559 |
Witkop Syndrome |
|
Fine hair, Small nail, Ridged nail, Concave nail, Sparse hair, Nail pits |
OMIM:189500 |
L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia, Malignant eosinophil proliferation |
OMIM:131440 |
Oocyte Maturation Defect 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... |
OMIM:614929 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Absent hair, Nail dystrophy, Ectodermal dysplasia, Atrichia, Absent eyelashes, Nail dysplasia, Co... |
OMIM:614931 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
Glioma Susceptibility 9 |
|
Leukemia, Glioma, Astrocytoma |
OMIM:616568 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Lymphoproliferati... |
OMIM:615897 |
Oocyte Maturation Defect 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Hidrotic Ectodermal Dysplasia |
|
Sparse eyelashes, Palmoplantar keratoderma, Sparse pubic hair, Sparse hair, Palmoplantar hyperker... |
ORPHA:189 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Hyperkeratotic papule, Plantar hyperkeratosis, Spotty hypopigmentation, Cutaneous photosensitivit... |
ORPHA:79397 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... |
OMIM:202700 |
Angioma Serpiginosum, X-Linked |
|
Fine hair, Nail dystrophy, Sparse hair, Hyperkeratosis |
OMIM:300652 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Fine hair, Cutis laxa, Excessive wrinkled skin, Thin skin, Dermal translucency, Cryptorchidism, S... |
OMIM:614438 |
Keratosis Follicularis, Dwarfism, And Cerebral Atrophy |
|
Generalized keratosis follicularis, Absent eyebrow, Absent eyelashes, Absent hair |
OMIM:308830 |
Trichodysplasia-Xeroderma |
|
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... |
OMIM:190360 |
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 dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair |
OMIM:158000 |
Acrogeria |
|
Fine hair, Excessive wrinkled skin, Telangiectasia of the skin, Thin skin, Prematurely aged appea... |
ORPHA:2500 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Lymphoproliferative disorder,... |
OMIM:614470 |
Ectodermal Dysplasia 8, Hair/Tooth/Nail Type |
|
Dystrophic fingernails, Dystrophic toenail, Hair-nail ectodermal dysplasia, Sparse or absent eyel... |
OMIM:602401 |
Fibrinolytic Defect |
|
Hyperextensible skin, Spontaneous hematomas |
OMIM:134900 |
Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:607785 |
Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia, ... |
OMIM:133180 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Dry skin, Alopecia of scalp, Cutis laxa, Generalized hyperkeratosis,... |
ORPHA:2269 |
Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
Anonychia With Flexural Pigmentation |
|
Alopecia of scalp, Abnormal hair morphology, Macular telangiectasia, Follicular hyperkeratosis, H... |
ORPHA:69125 |
Elastoderma |
|
Premature skin wrinkling, Cutis laxa |
ORPHA:228240 |
Aredyld |
|
Generalized hypotrichosis, Ectodermal dysplasia |
OMIM:207780 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Nail dystrophy, Alopecia, Nail pits |
OMIM:601705 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Telangiectasia, Cutaneous photosensitivity, Erythematous plaque, Dystrophic toenail, Dystrophic f... |
ORPHA:158673 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Keratosis, Focal Palmoplantar And Gingival |
|
Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperke... |
OMIM:148730 |
Rothmund-Thomson Syndrome, Type 1 |
|
Nail dystrophy, Recurrent otitis media, Absent eyebrow, Absent eyelashes, Thin nail, Premature ov... |
OMIM:618625 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmunity, Abnormal B cell count, Decreased circulating antibody level, Reduced antigen-specif... |
ORPHA:331206 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia |
OMIM:233650 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Epidermal hyperkeratosis, Brittle hair, Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Palmo... |
OMIM:104100 |
Tooth Agenesis, Selective, 8 |
|
Dry skin, Sparse hair, Sparse eyebrow |
OMIM:617073 |
Atopic Keratoconjunctivitis |
|
Keratoconjunctivitis sicca, Abnormal eyelid morphology, Keratitis, Chemosis, Loss of eyelashes, D... |
ORPHA:163934 |
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails |
|
Congenital localized absence of skin, Nail dystrophy, Nail dysplasia, Fragile skin |
OMIM:132000 |
Porphyria Cutanea Tarda |
|
Cutaneous photosensitivity, Onycholysis, Alopecia, Facial hypertrichosis, Fragile skin |
OMIM:176100 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Pili torti, Reduced terminal:vellus ratio, Sparse hair |
OMIM:601553 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dystrophy, Alopecia totalis, Nail dysplasia, Facial erythema, Hyperkeratosis, Dry skin, Palm... |
OMIM:212360 |
Hypotrichosis 6 |
|
Sparse eyelashes, Brittle hair, Erythema, Follicular hyperkeratosis, Pili torti, Sparse and thin ... |
OMIM:607903 |
Insulin-Resistance Syndrome Type A |
|
Subcutaneous nodule, Generalized hirsutism, Hyperkeratosis |
ORPHA:2297 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency |
OMIM:619245 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils, Sensorineural hearing impairment |
ORPHA:2690 |
Griscelli Syndrome, Type 3 |
|
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes |
OMIM:609227 |
Focal Facial Dermal Dysplasia 1, Brauer Type |
|
Sparse lateral eyebrow, Distichiasis |
OMIM:136500 |
Dermatoleukodystrophy |
|
Progeroid facial appearance, Premature skin wrinkling |
OMIM:221790 |
Hypohidrotic Ectodermal Dysplasia |
|
Dry skin, Failure to thrive, Breast aplasia, Generalized hypopigmentation of hair, Trichorrhexis ... |
ORPHA:238468 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Myelodysplasia, Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Lymphoma... |
OMIM:616871 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:601859 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Pili Torti |
|
Brittle hair, Alopecia, Abnormal eyebrow morphology, Abnormality of hair texture, Pili torti, Abn... |
ORPHA:2889 |
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Alopecia, Woolly scalp hair, Woolly hair |
OMIM:601217 |
Woolly Hair, Autosomal Recessive 3 |
|
Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair |
OMIM:616760 |
Keratosis Follicularis-Dwarfism-Cerebral Atrophy Syndrome |
|
Generalized keratosis follicularis, Absent eyebrow, Absent eyelashes |
ORPHA:2339 |
Immunodeficiency 64 |
|
Anti-thyroid peroxidase antibody positivity, Abnormal CD4:CD8 ratio, Defective T cell proliferati... |
OMIM:618534 |
Leprosy |
|
Verrucous papule, Skin nodule, Sparse body hair, Penetrating foot ulcers, Alopecia, Paralytic lag... |
ORPHA:548 |
Renal Hypodysplasia/Aplasia 2 |
|
Redundant skin |
OMIM:615721 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Dry skin, Sparse scalp hair, Fragile nails, Thin skin |
OMIM:617364 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Myeloproliferative Disease, Autosomal Recessive |
|
Myeloproliferative disorder |
OMIM:254700 |
Histiocytosis, Progressive Mucinous |
|
Neoplasm of the skin, Mucinous histiocytosis |
OMIM:142630 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Skin Fragility-Woolly Hair Syndrome |
|
Sparse eyelashes, Acantholysis, Nail dystrophy, Alopecia, Palmoplantar keratosis with erythema an... |
OMIM:607655 |
Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Myelodysplasia, Lymphopenia, Myeloid leukem... |
OMIM:614172 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Abnormality of the subungual region, Nail dystrophy, Atrophic scars, Aplasia cutis congenita, Ski... |
ORPHA:79411 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia |
OMIM:183350 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormal fingernail morphology, Sparse hair, Sparse body hair, Thin skin |
ORPHA:1810 |
Pseudoprogeria Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes, Thin skin, Sparse and thin eyebrow, Sparse hair |
ORPHA:2985 |
Focal Facial Dermal Dysplasia Type I |
|
Spotty hypopigmentation, Low anterior hairline, Sparse lateral eyebrow, Atrophic scars, Aplasia c... |
ORPHA:79133 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Small nail, Sparse eyelashes, Sparse and thin eyebrow, Coarse hair, Alopecia, Ectodermal dysplasi... |
OMIM:613573 |
Björnstad Syndrome |
|
Brittle hair, Alopecia |
ORPHA:123 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Patchy alopecia |
OMIM:247100 |
Quinquaud Folliculitis Decalvans |
|
Patchy alopecia, Erythema, Abnormal hair morphology, Scarring alopecia of scalp |
ORPHA:346 |
Centrifugal Lipodystrophy |
|
Inflammatory abnormality of the skin, Lack of facial subcutaneous fat, Lymphadenitis, Alopecia, R... |
ORPHA:90156 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Progeroid facial appearance, Alopecia, Absent eyelashes, Abnormal eyebrow morphology, Thin skin, ... |
ORPHA:90153 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse body hair, Sparse scalp hair, Melanocytic nevus, Periodontitis, Alopecia universalis, Abno... |
ORPHA:1008 |
Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level |
OMIM:616873 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmunity, Hepatomegaly, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Recurrent urin... |
OMIM:618495 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Petechiae, Neut... |
OMIM:603909 |
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Pili torti, Sparse or absent eyelashes, Abnormality of hair te... |
ORPHA:2891 |
Monilethrix |
|
Fine hair, Brittle hair, Abnormal eyebrow morphology, Follicular hyperkeratosis, Abnormality of t... |
ORPHA:573 |
Schopf-Schulz-Passarge Syndrome |
|
Small nail, Apocrine hidrocystoma, Onycholysis, Ridged nail, Thin nail, Palmoplantar keratoderma,... |
OMIM:224750 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Pneumonia... |
OMIM:607594 |
Moynahan Syndrome |
|
Alopecia, Sparse hair, Hyperkeratosis |
ORPHA:2574 |
Hypotrichosis 8 |
|
Sparse eyelashes, Dry hair, Ridged nail, Comedo, Sparse and thin eyebrow, Coarse hair, Sparse sca... |
OMIM:278150 |
Ectodermal Dysplasia 5, Hair/Nail Type |
|
Absent toenail, Sparse scalp hair, Hair-nail ectodermal dysplasia, Dystrophic fingernails |
OMIM:614927 |
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Redundant skin, Cutis laxa, Increased number of skin folds |
ORPHA:436274 |
Classic Mycosis Fungoides |
|
Hypopigmented skin patches, Eczema, Skin ulcer, Alopecia, Erythema, Abnormal eyelid morphology, S... |
ORPHA:2584 |
Kerion Celsi |
|
Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Lymphadenopathy, Alo... |
ORPHA:499 |
Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa |
ORPHA:79148 |
Oculotrichodysplasia |
|
Sparse eyelashes, Dry skin, Sparse lateral eyebrow, Sparse scalp hair, Sparse pubic hair, General... |
OMIM:257960 |
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Sparse eyelashes, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sparse pubic hair, Hidrotic ... |
OMIM:601375 |
Caspase 8 Deficiency |
|
Eczema, Pneumonia, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG le... |
OMIM:607271 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Conductive hearing impairment, Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia, Sensori... |
OMIM:610738 |
Crandall Syndrome |
|
Fine hair, Brittle hair, Alopecia, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair |
ORPHA:202 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Fine hair, Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Hypohidrosis, Dry ski... |
ORPHA:248 |
Proliferating Trichilemmal Cyst |
|
Sparse scalp hair, Epidermoid cyst, Skin ulcer |
ORPHA:492 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Myelodysplasia, Anemia, Bone marrow hypocellulari... |
OMIM:619041 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Anterior cervical hypertrichosis, Lumbar hypertrichosis, Sacral hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Nail dystrophy, Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis |
ORPHA:79503 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Small nail, Abnormal hair morphology, Ectropion, Thin nail, Alopecia, Palmoplantar keratoderma, E... |
OMIM:242100 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse eyelashes, Abnormal hair morphology, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sp... |
ORPHA:1808 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Myelodysplasia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Porphyria, Congenital Erythropoietic |
|
Hypertrichosis, Cutaneous photosensitivity, Thickened skin, Alopecia, Absent eyebrow, Cholelithia... |
OMIM:263700 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... |
OMIM:247630 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Dystrophic fingernails, Ectodermal dysplasia, Fragile skin, Scaling skin, Sparse hair, Palmoplant... |
OMIM:604536 |
Pachyonychia Congenita 4 |
|
Nail dystrophy, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:615728 |
Fanconi Anemia, Complementation Group G |
|
Myelodysplasia, Neutropenia, Leukemia, Anemia, Thrombocytopenia |
OMIM:614082 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Folliculitis, Dystrophic fingernails, Ectropion, Palmoplantar keratoderma, Scar... |
OMIM:308800 |
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 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Dystrophic toenail, Nevus, Absent toenail, Atrophic scars, Ridged nail, Skin erosion, Aplasia cut... |
ORPHA:89838 |
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive |
|
Aplasia cutis congenita, Congenital absence of skin of limbs |
OMIM:600360 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse eyelashes, Woolly scalp hair, Sparse and thin eyebrow, Palmoplantar keratoderma, Woolly ha... |
OMIM:616099 |
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies |
|
Hirsutism, Upslanted palpebral fissure, Long eyelashes, Horizontal eyebrow, Thick eyebrow |
OMIM:618608 |
Vibratory Urticaria |
|
Facial erythema, Urticaria, Flushing |
OMIM:125630 |
Bullous Lichen Planus |
|
Breast aplasia |
ORPHA:33408 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Palmoplantar keratoderma, Alopecia totalis, Atypical scarring of skin, Lack of sk... |
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 |
|
B lymphocytopenia, Neutropenia, Pancytopenia, Leukopenia, Partial absence of specific antibody re... |
OMIM:618986 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Psoriasiform dermatitis, Eczema, Hepatomegaly, Bronchiectasis, Decreased circulating IgA level, L... |
OMIM:616100 |
Unclassified Myelodysplastic Syndrome |
|
Leukocytosis, Myelodysplasia, Bone marrow hypocellularity, Multiple lineage myelodysplasia, Acute... |
ORPHA:98827 |
Bathing Suit Ichthyosis |
|
Erythroderma, Ectropion, Nail dystrophy, Alopecia, Thickened skin, Parakeratosis, Congenital nonb... |
ORPHA:100976 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... |
OMIM:619220 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Sparse eyelashes, Cutaneous photosensitivity, Brittle hair, Coarse hair, Sparse and thin eyebrow,... |
OMIM:234030 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617574 |
Schöpf-Schulz-Passarge Syndrome |
|
Facial telangiectasia, Palmoplantar keratoderma, Alopecia, Ectodermal dysplasia, Aplasia/Hypoplas... |
ORPHA:50944 |
Transient Bullous Dermolysis Of The Newborn |
|
Nail dystrophy, Fragile skin, Atrophic scars, Milia |
OMIM:131705 |
Selective Igm Deficiency |
|
Autoimmunity, Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodies, Ly... |
ORPHA:331235 |
Mismatch Repair Cancer Syndrome 2 |
|
T-cell acute lymphoblastic leukemias, Glioblastoma multiforme, Colon cancer |
OMIM:619096 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Pneumonia, Stomatitis, Lymphadenopathy, Lymphadenitis, Chronic oral candidiasis, Decreased lympho... |
ORPHA:911 |
Pili Torti-Onychodysplasia Syndrome |
|
Conjunctival hyperemia, Eczema, Keloids, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes... |
ORPHA:2890 |
Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
Barber-Say Syndrome |
|
Hypoplastic nipples, Failure to thrive, Generalized hirsutism, Sparse or absent eyelashes, Breast... |
ORPHA:1231 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Onychogryposis of fingernail, Fingernail dysplasia, Alopecia, Palmoplantar keratoderma, Urticaria... |
ORPHA:2251 |
Acrokeratosis Verruciformis |
|
Ridged nail, Acrokeratosis, Hyperkeratosis |
OMIM:101900 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Absent lower eyelashes, Low anterior hairline, Epicanthus, Aged leonine appearance, Distichiasis,... |
OMIM:227260 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Abnormal eyelash morphology, Melanocytic nevus, Abnormal toenail morphology, Aplasia/Hypoplasia o... |
ORPHA:1818 |
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate |
|
Sparse hair, Ectodermal dysplasia |
OMIM:129810 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes, Thin skin, Abnormality of the nail, Sparse hair, Toen... |
OMIM:607823 |
Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Decreased specific pneumococcal antibody lev... |
OMIM:613496 |
Reticular Dysgenesis |
|
Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, Congenit... |
OMIM:267500 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Lymphadenopathy, Rheumatoid factor positive, Chronic kidney disease... |
ORPHA:449395 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse eyelashes, Erythroderma, Palmoplantar keratoderma, Scarring alopecia of scalp, Absent eyel... |
OMIM:602540 |
Parana Hard Skin Syndrome |
|
Thickened skin, Generalized hirsutism, Hyperkeratosis |
ORPHA:2812 |
Incontinentia Pigmenti |
|
Atrophic, patchy alopecia, Fine hair, Hypoplastic nipples, Sparse hair, Ridged nail, Nail dystrop... |
OMIM:308300 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Eczema, Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Rheumatoid factor positive, Splenomeg... |
OMIM:618935 |
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Cutis laxa, Redundant skin |
ORPHA:91135 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse eyelashes, Sparse eyebrow, Sparse scalp hair, Follicular hyperkeratosis, Leukonychia, Spar... |
OMIM:613102 |
Severe Combined Immunodeficiency, X-Linked |
|
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pne... |
OMIM:300400 |
Erythrokeratodermia Variabilis |
|
Patchy palmoplantar hyperkeratosis, Macule, Cutaneous photosensitivity, Abnormal hair morphology,... |
ORPHA:317 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer |
OMIM:246470 |
Hepatoerythropoietic Porphyria |
|
Seborrhoeic blepharitis, Ectropion, Severe photosensitivity, Thickened skin, Facial hypertrichosi... |
ORPHA:95159 |
Aquagenic Palmoplantar Keratoderma |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, White papule, Palmoplantar hyperhidrosis... |
ORPHA:498359 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Sparse body hair, Nail dystrophy, Atrophic scars, Scarring alopecia of scalp, Aplasia cutis conge... |
ORPHA:79402 |
Focal Facial Dermal Dysplasia Type Iii |
|
Hypopigmented skin patches, Highly arched eyebrow, Sparse lateral eyebrow, Epicanthus, Abnormal h... |
ORPHA:1807 |
Immunodeficiency, Common Variable, 10 |
|
Anti-thyroid peroxidase antibody positivity, Psoriasiform dermatitis, Central adrenal insufficien... |
OMIM:615577 |
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 |
Erythrokeratodermia Variabilis Et Progressiva 2 |
|
Palmoplantar keratoderma, Hypertrichosis, Erythema |
OMIM:617524 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Fine hair, Sparse eyelashes, Dry skin, Ectodermal dysplasia, Nail dysplasia, Hypohidrosis, Slow-g... |
OMIM:129490 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Brittle hair, Curly hair, Pili torti, Hypohidrosis, Hyperkeratosis, Sparse and thin eyebrow, Spar... |
OMIM:602400 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Rheumatoid factor positive, Cutis marmorata, Periungual erythema, Sparse hair, Nail dystrophy, Er... |
OMIM:615934 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Spotty hypopigmentation, Hypomelanotic macule, Nail dystrophy, Papule, Sk... |
ORPHA:79399 |
Absence Of Fingerprints-Congenital Milia Syndrome |
|
Thin skin, Hypohidrosis, Milia |
ORPHA:1658 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 |
|
Pancytopenia, Leukemia, Bone marrow hypocellularity, Myeloid leukemia, Aplastic anemia |
OMIM:614743 |
Woolly Hair, Autosomal Dominant |
|
Abnormal hair morphology, Dry hair, Coarse hair, Woolly hair, Slow-growing hair |
OMIM:194300 |
Pseudopelade Of Brocq |
|
Abnormal hair morphology, Alopecia, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplasi... |
ORPHA:129 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Loss of eyelashes |
ORPHA:2821 |
Li-Fraumeni Syndrome |
|
Ovarian neoplasm, Acute lymphoblastic leukemia, Thyroid carcinoma, Astrocytoma, Choriocarcinoma, ... |
ORPHA:524 |
N Syndrome |
|
Leukemia, Neoplasm, Hearing impairment |
OMIM:310465 |
Cole Disease |
|
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:615522 |
Tooth Agenesis, Selective, 4 |
|
Dry skin, Sparse hair, Sparse eyebrow, Short eyelashes |
OMIM:150400 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Autoimmunity, Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneu... |
OMIM:617006 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... |
OMIM:619375 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Alopecia totalis, Palmoplantar keratoderma, Parakeratosis, Posterior bl... |
OMIM:300918 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anti-glutamic acid decarboxylase antibody positivity, Eczema, Eosinophilia, Erythroderma, Neutrop... |
OMIM:304790 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Nephro... |
ORPHA:158057 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Nail dystrophy, Alopecia, Palmoplantar keratoderma |
OMIM:618373 |
Deafness-Craniofacial Syndrome |
|
Alopecia |
OMIM:125230 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Nail dystrophy, Palmoplantar keratoderma, Alopecia, Generalized ichthyosis, Parakeratosis, Hyperg... |
ORPHA:79395 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... |
ORPHA:2585 |
Clouston Syndrome |
|
Fine hair, Sparse eyelashes, Small nail, Onycholysis, Absent pubic hair, Brittle hair, Nail dystr... |
OMIM:129500 |
Granulomatous Slack Skin |
|
Erythema, Cutis laxa, Redundant skin |
ORPHA:33111 |
Uncombable Hair Syndrome 3 |
|
Curly hair, Pili canaliculi, Uncombable hair |
OMIM:617252 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Purpura, Warfarin-induced skin necrosis, Thin skin, Aplasia/Hypoplasia of the skin |
ORPHA:745 |
Cutis Laxa, Autosomal Dominant 1 |
|
Progeroid facial appearance, Prematurely aged appearance, Redundant skin |
OMIM:123700 |
Trichomegaly |
|
Long eyelashes |
OMIM:190330 |
Distichiasis |
|
Distichiasis |
OMIM:126300 |
Tristichiasis |
|
Three rows of eyelashes |
OMIM:190800 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Thrombocytosis, Macrocytic anemia, Myelodysplasia, Leukopenia, Bone marrow hypocellularity, Multi... |
ORPHA:86841 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Petechiae, Striae distensae, Thin skin, Atypical scarring of skin, Bruising susceptibility |
OMIM:225310 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Progeroid Syndrome, Petty Type |
|
Long eyelashes in irregular rows, Cutis laxa, Abnormal hair morphology, Brittle hair, Reduced sub... |
ORPHA:2963 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair, Follicular hyperkeratosis, Congenital nonbullous ichthyosiform ... |
OMIM:618546 |
Porokeratosis Plantaris Palmaris Et Disseminata |
|
Hyperkeratotic papule, Annular cutaneous lesion, Generalized abnormality of skin, Palmoplantar hy... |
ORPHA:737 |
Onychotrichodysplasia And Neutropenia |
|
Curly eyelashes, Trichorrhexis nodosa, Sparse pubic hair, Chronic irritative conjunctivitis, Curl... |
OMIM:258360 |
Nut Midline Carcinoma |
|
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cell carcinom... |
ORPHA:443167 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Myelodysplasia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, H... |
ORPHA:231401 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617756 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Elevated circulating follicle stimulating hormone level, Sparse pubic hair, Eunuchoid habitus, Br... |
ORPHA:3044 |
Bazex-Dupré-Christol Syndrome |
|
Sparse and thin eyebrow, Coarse hair, Trichorrhexis nodosa, Subcutaneous nodule, Pili torti, Spar... |
ORPHA:113 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Nail dystrophy, Linear arrays of macular hyperkeratoses in flexural areas, Parakeratosis, Congeni... |
OMIM:601952 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:616400 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Telangiectasia, Alopecia |
OMIM:614564 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Acrokeratosis, Hyperkeratosis |
OMIM:101850 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Splenomegaly, Diffuse hepatic steatosis, Jaundice, Cirrhosis... |
ORPHA:2137 |
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement |
|
Congenital ichthyosiform erythroderma, Hyperkeratosis |
OMIM:270220 |
Dermatoleukodystrophy |
|
Thickened skin, Hyperkeratosis |
ORPHA:1659 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Atrophic scars, Nail dystrophy, Dermal atrophy, Papule, Abnormal toenail morphology, Milia, Hyper... |
ORPHA:89843 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Nail dystrophy, Hyperkeratosis |
OMIM:131850 |
Adult Syndrome |
|
Fine hair, Hypoplastic nipples, Fingernail dysplasia, Alopecia, Sparse scalp hair, Thin skin, Abn... |
ORPHA:978 |
Lichen Planopilaris |
|
Hypopigmented skin patches, Onycholysis, Hepatitis, Alopecia, Dermal atrophy, Papule, Pterygium, ... |
ORPHA:525 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Erythroderma, Neutropenia, Psoriasiform lesion, Increased circulating IgA level, Lymphadenopathy,... |
ORPHA:169154 |
Aldh18A1-Related De Barsy Syndrome |
|
Hyperextensible skin |
ORPHA:35664 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Abnormal fingernail morphology, Absent eyebrow, Absent eyelashes, Follicular hyperkeratosis, Nail... |
ORPHA:1809 |
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair |
|
Dry hair, Sparse hair, Coarse hair, Onychogryposis of toenails, Plantar hyperkeratosis |
OMIM:164680 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Increased B cell count, Increased proportion of memory T cells, Bron... |
OMIM:618982 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Sparse eyelashes, Folliculitis, Nail dystrophy, Alopecia, Scarring alopecia of scalp, Palmoplanta... |
OMIM:612843 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Thin skin, Subcutaneous hemorrhage, Purpura, Aplasia/Hypoplasia of the skin, Skin ulcer |
ORPHA:743 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:244850 |
Immunodeficiency 27A |
|
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Pneumonia, Lymphadenopathy, Salmone... |
OMIM:209950 |
Rombo Syndrome |
|
Facial telangiectasia, Abnormal eyelash morphology, Abnormal eyebrow morphology |
OMIM:180730 |
Li-Fraumeni Syndrome |
|
Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma... |
OMIM:151623 |
Prolidase Deficiency |
|
Hirsutism, Cutaneous photosensitivity, Low anterior hairline, Erythema, Palmoplantar keratoderma,... |
ORPHA:742 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Follicular hyperkeratosis, Sparse hair, Palmoplantar keratoderma, Ectodermal dysplasia |
OMIM:613576 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly |
OMIM:606445 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Scaling skin, Dry skin, Cutis laxa |
OMIM:105250 |
Microphthalmia, Syndromic 8 |
|
Cryptorchidism, Premature skin wrinkling, Blepharophimosis, Short palpebral fissure |
OMIM:601349 |
Nicolaides-Baraitser Syndrome |
|
Highly arched eyebrow, Eczema, Excessive wrinkled skin, Curly eyelashes, Alopecia, Abnormal hair ... |
ORPHA:3051 |
Bjornstad Syndrome |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... |
OMIM:262000 |
Porokeratosis Of Mibelli |
|
Cutaneous photosensitivity, Aplasia/Hypoplasia of the skin |
ORPHA:735 |
Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Dry skin, Sparse lateral eyebrow, Erythematous papule, Acne, Dermal atroph... |
ORPHA:3406 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis |
OMIM:146750 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Juvenile Hyaline Fibromatosis |
|
Abnormal hair morphology, Papule, Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Skin ulcer |
ORPHA:2028 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Eczema, Tubulointerstitial nephritis, ... |
ORPHA:37042 |
Lamellar Ichthyosis |
|
Erythroderma, Ectropion, Chronic otitis media, Lack of skin elasticity, Abnormality of the nail, ... |
ORPHA:313 |
Adult Syndrome |
|
Hypoplastic nipples, Alopecia of scalp, Cutaneous photosensitivity, Sparse axillary hair, Ectoder... |
OMIM:103285 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Lymphadenopathy, Alopecia, Anemia, Splenomegaly, Dysgammaglobulinemia, Premature ov... |
ORPHA:100025 |
Oligodontia-Colorectal Cancer Syndrome |
|
Absent eyebrow, Sparse scalp hair, Sparse axillary hair, Sparse body hair, Short eyelashes |
OMIM:608615 |
Papular Xanthoma |
|
Histiocytosis |
ORPHA:158008 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Nail dystrophy, Alopecia, Sparse hair |
OMIM:616353 |
Flynn-Aird Syndrome |
|
Hyperkeratosis, Alopecia, Alopecia of scalp, Dermal atrophy |
OMIM:136300 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Shagreen patch, Alopecia of scalp, Ptosis, Abnormal hair quantity, Prematurely aged appearance, H... |
ORPHA:2617 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Sparse hair, Thin skin, Skin dimple |
ORPHA:261304 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Erythroderma, Ectropion, Nail dystrophy, Alopecia, Parakeratosis, Nail dysplasia, Sparse hair, Pa... |
OMIM:242300 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ... |
OMIM:247800 |
Hypotrichosis 12 |
|
Dry hair, Sparse or absent eyelashes, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Spars... |
OMIM:615885 |
Limb-Mammary Syndrome |
|
Psoriasiform dermatitis, Dry skin, Hypoplastic nipples, Alopecia, Sparse eyebrow, Aplasia of the ... |
ORPHA:69085 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Lymphadenitis, Salmonella osteomyelitis, Vasculitis in the skin, Abnormal serum interl... |
ORPHA:319552 |
Diarrhea 2, With Microvillus Atrophy |
|
Abnormal intestine morphology, Villous atrophy |
OMIM:251850 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Nail dystrophy, Palmoplantar keratoderma, Parakeratosis, Nail dysplasia... |
OMIM:614594 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmunity, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N... |
ORPHA:3261 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Cigarette-paper scars, Narrow palpebral fissure, Excessive skin wrinkling on dorsum of hands and ... |
OMIM:608763 |
Hypertrichosis Cubiti |
|
Ptosis, Downslanted palpebral fissures, Abnormal eyelid morphology, Abnormal nasolacrimal system ... |
ORPHA:2220 |
Leopard Syndrome 3 |
|
Epidermal hyperkeratosis, Palpebral thickening, Webbed neck, Downslanted palpebral fissures, Curl... |
OMIM:613707 |
Trichoodontoonychial Dysplasia With Bone Deficiency |
|
Nail dystrophy, Ectodermal dysplasia, Nail dysplasia, Sparse hair, Supernumerary nipple |
OMIM:275450 |
Chromosome 10Q22.3-Q23.2 Deletion Syndrome |
|
Breast aplasia |
OMIM:612242 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Splenomegaly |
OMIM:607685 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Eczema, Hypertrichosis, Cutis laxa, Hyperkeratosis |
OMIM:612379 |
Olmsted Syndrome 2 |
|
Palmoplantar keratoderma, Parakeratosis, Perioral hyperkeratosis, Woolly hair, Hyperkeratosis, Al... |
OMIM:619208 |
Immunodeficiency 14A, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... |
OMIM:615513 |
Rosselli-Gulienetti Syndrome |
|
Progressive hypotrichosis, Sparse eyelashes, Nail dysplasia, Hypohidrosis, Sparse and thin eyebro... |
OMIM:225000 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair |
|
Sparse eyelashes, Sparse eyebrow, Downslanted palpebral fissures, Epicanthus, Hypoplastic toenail... |
OMIM:616901 |
Congenital Erythropoietic Porphyria |
|
Seborrhoeic blepharitis, Ectropion, Severe photosensitivity, Thickened skin, Facial hypertrichosi... |
ORPHA:79277 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hirsutism, Nephrotic syndrome, Hematuria, Polycystic ovaries, Decreased serum complement C3, Memb... |
OMIM:608709 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Odontoonychodermal Dysplasia |
|
Fine hair, Anonychia, Plantar hyperkeratosis, Dry hair, Dystrophic fingernails, Dystrophic toenai... |
OMIM:257980 |
Brooke-Spiegler Syndrome |
|
Skin appendage neoplasm, Skin nodule, Abnormality of the sublingual glands, Nodular changes affec... |
ORPHA:79493 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Neuroblastoma, Myelodysplasia, Abnormal dense granule content, Lymphoma, Acute myeloid leukemia, ... |
OMIM:601399 |
Coffin-Siris Syndrome 8 |
|
Eczema, Ptosis, Long eyelashes, Thick eyebrow, Sparse scalp hair |
OMIM:618362 |
Hyper-Igd Syndrome |
|
Leukocytosis, Increased circulating IgA level, Lymphadenopathy, Lymphadenitis, Chronic oral candi... |
OMIM:260920 |
Alazami-Yuan Syndrome |
|
Highly arched eyebrow, Hirsutism, Low anterior hairline, Long eyelashes, Thick eyebrow, Cryptorch... |
OMIM:617126 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... |
ORPHA:169079 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia |
OMIM:242510 |
Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Sparse eyelashes, Thin eyebrow, Low anterior hairline |
OMIM:617392 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Abnormal toenail morphology, Papule, Abnormality of the nail, Honeycomb palmoplantar hy... |
ORPHA:494 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Uveitis, Decreased circulatin... |
OMIM:614700 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Cutaneous photosensitivity, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, C... |
ORPHA:312 |
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair |
|
Sparse hair |
OMIM:272980 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Erythema, Diffuse palmoplantar hyperkeratosis, Skin ulcer |
ORPHA:2337 |
Autosomal Dominant Deafness-Onychodystrophy Syndrome |
|
Hypoplastic toenails, Absent thumbnail, Absent fifth fingernail, Absent toenail, Aplasia/Hypoplas... |
ORPHA:79499 |
Sézary Syndrome |
|
Hepatomegaly, Erythroderma, Lymphadenopathy, Abnormal immunoglobulin level, Nail dystrophy, Alope... |
ORPHA:3162 |
Chilblain Lupus 1 |
|
Skin ulcer, Abnormality of the nail |
OMIM:610448 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse eyelashes, Cutis laxa, Progeroid facial appearance, Atrophic scars, Sparse scalp hair, Thi... |
ORPHA:75496 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Dermal translucency, Thick eyebrow |
ORPHA:529965 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Redundant skin |
OMIM:301021 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse eyelashes, Dry skin, Hypohidrosis, Slow-growing hair, Blepharitis, Sparse body hair |
OMIM:618535 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Nail dysplasia, Breast hypoplasia, Hypoplastic nipples, Ectodermal dysplasia |
OMIM:129550 |
Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Long eyelashes, Cryptorchidism, Decreased response to growth hormone stimulation test, ... |
OMIM:275400 |
Lymphatic Filariasis |
|
Lymphangiectasis, Vaginal hydrocele, Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Abnormal... |
ORPHA:2035 |
Trichotillomania |
|
Alopecia |
OMIM:613229 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Neutropenia, Lymphopenia |
OMIM:300988 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Atopic dermatitis, Increased circulating interleukin 6, Decreased proportion of class-switched me... |
OMIM:618944 |
Woolly Hair |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... |
ORPHA:170 |
C3 Glomerulopathy |
|
Autoimmunity, C3 nephritic factor positivity, Nephrotic syndrome, Decreased serum complement C4, ... |
ORPHA:329918 |
Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Fine hair, Allergic rhinitis, Alopecia of scalp, Slow-growing scalp hair, Para... |
ORPHA:90368 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Discoid lupus rash, Systemic lupus erythematosus, Chronic m... |
ORPHA:90280 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Perinuclear ant... |
OMIM:618394 |
Epidermolysis Bullosa Dystrophica, Autosomal Dominant |
|
Nail dystrophy, Nail dysplasia, Atrophic scars, Milia |
OMIM:131750 |
Palmoplantar Keratoderma, Nagashima Type |
|
Hypergranulosis, Orthokeratotic hyperkeratosis |
OMIM:615598 |
Localized Junctional Epidermolysis Bullosa |
|
Atrophic, patchy alopecia, Dystrophic fingernails, Dystrophic toenail, Nail dystrophy, Scarring a... |
ORPHA:251393 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Decreased serum compleme... |
ORPHA:567544 |
Mental Retardation, Fra12A Type |
|
Hyperkeratosis |
OMIM:136630 |
Growth Factors, Combined Defect Of |
|
Reduced subcutaneous adipose tissue, Plantar hyperkeratosis, Thin skin, Dermal atrophy |
OMIM:233805 |
Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Soft, doughy skin, Fragile skin, Hyperextensible skin, Soft skin, Bruising susceptibility |
OMIM:130010 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Cholangitis, Sparse eyelashes, Alopecia, Parakeratosis, Thick hair, Orthokeratosis, Ichthyosis, D... |
OMIM:607626 |
Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Orthokeratotic hyperkeratosis, Onycholysis, Yellow nails, Nail dystrophy, Palmoplantar keratoderm... |
OMIM:148700 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Fine hair, Dystrophic fingernails, Dystrophic toenail, Sparse and thin eyebrow, Alopecia, Melanoc... |
ORPHA:1882 |
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant |
|
Comedo, Sparse scalp hair, Papule, Palmar pits |
OMIM:605827 |
Keratosis Pilaris Atrophicans |
|
Comedo, Erythema, Sparse eyebrow, Absent eyelashes, Papule |
OMIM:604093 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis, Papule, Cutaneous photosensitivity, Multiple cafe-au-lait spots |
ORPHA:1336 |
Complement Component 4A Deficiency |
|
Reduced hemolytic complement activity, Cutaneous photosensitivity, Decreased serum complement C4,... |
OMIM:614380 |
Immunodeficiency, Common Variable, 2 |
|
Conjunctivitis, Autoimmunity, Hepatomegaly, Impaired T cell function, Decreased circulating IgA l... |
OMIM:240500 |
Immunodeficiency 48 |
|
Eczematoid dermatitis, Hepatomegaly, Pneumonia, Splenomegaly, Panhypogammaglobulinemia |
OMIM:269840 |
C1Q Deficiency |
|
Autoimmunity, Systemic lupus erythematosus, Decreased serum complement factor I, Membranoprolifer... |
OMIM:613652 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Hepatomegaly, Increased circulating IgA level, Increased circulating ... |
OMIM:617388 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Ectropion, Palmoplantar keratoderma, Erythema, Congenital nonbullous ichthyosiform erythroderma, ... |
OMIM:606545 |
Immunodeficiency 36 |
|
Chronic lymphatic leukemia, Decreased circulating antibody level, Splenomegaly, B-cell lymphoma, ... |
OMIM:616005 |
Epidermolysis Bullosa Dystrophica Neurotrophica |
|
Nail dystrophy, Nail dysplasia, Diffuse slow skin atrophy |
OMIM:226500 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Progressive hypotrichosis, Sparse eyelashes, Brittle hair, Ectodermal dysplasia, Abnormality of h... |
OMIM:225060 |
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Hirsutism, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulatin... |
OMIM:300861 |
Hydatidiform Mole, Recurrent, 4 |
|
Recurrent spontaneous abortion, Female infertility |
OMIM:618432 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Eczema, Lymphadenopathy, Hepatosplenomegaly, Hemolytic anemia, Enlarged tonsils, Autoimmune hemol... |
OMIM:606367 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Sparse scalp hair, Sparse and thin eyebrow, Sparse eyelashes, Ectodermal dysplasia |
OMIM:225280 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Widow's peak, Sparse hair, Thick eyebrow |
OMIM:606242 |
Laryngoonychocutaneous Syndrome |
|
Skin ulcer, Recurrent loss of toenails and fingernails |
OMIM:245660 |
Lymphedema, Primary, With Myelodysplasia |
|
Leukemia, Myelodysplasia, Pancytopenia |
OMIM:614038 |
Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
Choroidal Atrophy-Alopecia Syndrome |
|
Fine hair, Abnormal toenail morphology, Ungual fibroma, Sparse or absent eyelashes, Abnormal fing... |
ORPHA:1433 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Dry skin, Erythroderma, Ectropion, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous... |
OMIM:612281 |
Diarrhea 12, With Microvillus Atrophy |
|
Microvillus inclusions, Villous atrophy, Microvillar PAS-positive secretory granules |
OMIM:619445 |
Colonic Varices Without Portal Hypertension |
|
Intestinal bleeding, Colonic varices |
OMIM:120440 |
Rapp-Hodgkin Syndrome |
|
Anhidrotic ectodermal dysplasia, Fine hair, Small nail, Decreased number of sweat glands, Thin sk... |
OMIM:129400 |
De Barsy Syndrome |
|
Cutis laxa, Excessive wrinkled skin, Failure to thrive, Progeroid facial appearance, Prominent ve... |
ORPHA:2962 |
Trichodental Dysplasia |
|
Fine hair, Brittle hair, Sparse hair, Slow-growing hair |
OMIM:601453 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... |
OMIM:613493 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Coarse hair, Hidrotic ectodermal dysplasia, Hyperkeratosis, Sparse hair |
ORPHA:1883 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Complete o... |
OMIM:613494 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Nephrotic syndrome, Systemic lupus erythematosus, Decreased serum complement C3, Membranoprolifer... |
OMIM:613779 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD69 upregulation upon TCR activation, Hodgkin lymphoma, Lymphoproliferative disorder, ... |
OMIM:300853 |
Congenital Disorder Of Glycosylation, Type Im |
|
Sparse and thin eyebrow, Sparse eyelashes, Ichthyosis |
OMIM:610768 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Bronchiectasis, Pyoderma gangrenosum, Decreased circulating antibody level, Alopecia, Recurrent s... |
OMIM:616576 |
Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmented skin patches, Macule, Cutaneous photosensitivity, Abnormal eyebrow morphology, Hypo... |
ORPHA:2885 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Absent eyebrow, Absent eyelashes |
OMIM:182815 |
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet |
|
Sparse eyelashes, Alopecia, Telecanthus, Ectodermal dysplasia, Abnormality of the nail, Sparse an... |
OMIM:129540 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Abnormal hair morphology, Progeroid facial appearance, Nail dystrophy, Alopecia, Thin skin, Derma... |
ORPHA:90154 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Cutis marmorata, Hyperextensible skin |
OMIM:615937 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
X-Linked Ehlers-Danlos Syndrome |
|
Bruising susceptibility, Thin skin |
ORPHA:75497 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Autoimmunity, Cholangitis, Decreased specific pneumococcal antibody level, Decreased circulating ... |
ORPHA:183675 |
Wt Limb-Blood Syndrome |
|
Hypoplastic anemia, Leukemia, Sensorineural hearing impairment, Pancytopenia, Thrombocytopenia |
OMIM:194350 |
Oocyte Maturation Defect 10 |
|
Female infertility, Spontaneous abortion |
OMIM:619176 |
Primary Erythromelalgia |
|
Leukemia |
ORPHA:90026 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
19Q13.11 Microdeletion Syndrome |
|
Fine hair, Sparse lateral eyebrow, Aplasia cutis congenita, Thin skin, Nail dysplasia, Sparse or ... |
ORPHA:217346 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Palmoplantar cutis laxa, Atrophic scars, Thin skin, Poor wound healing, Bruising susceptibility |
OMIM:130080 |
Huriez Syndrome |
|
Small nail, Lack of skin elasticity, Abnormality of the nail, Aplasia/Hypoplasia of the skin, Dry... |
ORPHA:384 |
Xq27.3Q28 Duplication Syndrome |
|
Gynecomastia, Failure to thrive, Truncal obesity, Premature ovarian insufficiency, Cryptorchidism... |
ORPHA:261483 |
Pachyonychia Congenita 2 |
|
Folliculitis, Dry hair, Epidermoid cyst, Subungual hyperkeratosis, Nail dystrophy, Sparse and thi... |
OMIM:167210 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Nail dystrophy, Palmoplantar keratoderma, Erythema, Parakeratosis, Woolly hair, Fragile nails, Ic... |
OMIM:615821 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of CD3-positive T cells, Jaundice, Absent tonsils, Lymph node hypoplasia, Re... |
ORPHA:276 |
Acrokeratosis Verruciformis Of Hopf |
|
Nail dystrophy, Hypergranulosis, Leukonychia, Hyperkeratosis, Punctate palmoplantar hyperkeratosi... |
ORPHA:79151 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Eczematoid dermatitis, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Discoid lupus rash, Splenome... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Eczematoid dermatitis, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Discoid lupus rash, Splenome... |
OMIM:233710 |
Omenn Syndrome |
|
Autoimmunity, Leukocytosis, Eosinophilia, Erythroderma, Hepatomegaly, Pneumonia, Nephrotic syndro... |
ORPHA:39041 |
Transcobalamin Deficiency |
|
Neutropenia, Methylmalonic aciduria, Decreased circulating IgA level, Decreased circulating IgG l... |
ORPHA:859 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Cutis laxa |
OMIM:614100 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... |
OMIM:614493 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Erythema, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:617525 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia |
OMIM:200900 |
Uncombable Hair Syndrome 1 |
|
Dry hair, Pili canaliculi, Uncombable hair |
OMIM:191480 |
Boutonneuse Fever |
|
Leukopenia, Petechiae, Lymphadenopathy, Elevated hepatic transaminase, Increased circulating IgG ... |
ORPHA:83313 |
Amyloidosis, Finnish Type |
|
Cutis laxa |
OMIM:105120 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased specifi... |
OMIM:617765 |
Immunodeficiency 68 |
|
B lymphocytopenia, Lymphadenitis, Septic arthritis, Recurrent skin infections, T lymphocytopenia,... |
OMIM:612260 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy |
OMIM:613217 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Nail dystrophy, Brittle hair, Nail dysplasia, Sparse hair |
OMIM:211390 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Absent hair, Hypohidrotic ectodermal dysplasia, Dry skin, Absent nipple, Sparse hair |
OMIM:614940 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia, Reduced subcutaneous adipose tissue, Melanocytic nevus |
OMIM:612079 |
Syndromic X-Linked Intellectual Disability 7 |
|
Obesity, Cryptorchidism, Sparse body hair |
ORPHA:85274 |
Ulnar-Mammary Syndrome |
|
Hypoplastic nipples, Obesity, Hypoplastic toenails, Breast aplasia, Abnormal fingernail morpholog... |
ORPHA:3138 |
Granulomatous Disease, Chronic, X-Linked |
|
Eczematoid dermatitis, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Discoid lupus rash, Splenome... |
OMIM:306400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Eczematoid dermatitis, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Discoid lupus rash, Splenome... |
OMIM:233690 |
Leukemia, Chronic Lymphocytic |
|
Chronic lymphatic leukemia |
OMIM:151400 |
Leukemia, Chronic Lymphocytic, Susceptibility To, 2 |
|
Chronic lymphatic leukemia |
OMIM:109543 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... |
OMIM:606843 |
Noonan Syndrome 8 |
|
Eczema, Palmoplantar cutis laxa, Ptosis, Webbed neck, Epicanthus, Downslanted palpebral fissures,... |
OMIM:615355 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Absent tonsils, Sinusitis, Inflammator... |
ORPHA:277 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Highly arched eyebrow, Failure to thrive, Sparse lateral eyebrow, Webbed neck, Coarse hair, Thin ... |
OMIM:617506 |
Acquired Partial Lipodystrophy |
|
Autoimmunity, Progeroid facial appearance, Hepatic steatosis, Microscopic hematuria, Lymphocytosi... |
ORPHA:79087 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... |
OMIM:312863 |
Blepharonasofacial Malformation Syndrome |
|
Sparse lateral eyebrow, Thickened skin, Telecanthus, Epicanthus, Redundant skin, Low posterior ha... |
ORPHA:1252 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
Granddad Syndrome |
|
Progeroid facial appearance, Abnormal hair morphology, Reduced subcutaneous adipose tissue |
OMIM:138920 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Pulmonary lymphangiectasia, Epidermal hyperkeratosis, Sparse eyelashes, Telangiectasia of extenso... |
OMIM:137940 |
Dysmorphism-Cleft Palate-Loose Skin Syndrome |
|
Redundant skin |
ORPHA:1779 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Epididymitis, ... |
OMIM:608106 |
Immunodeficiency 31C |
|
Abnormal intestine morphology, Villous atrophy, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:614162 |
Hutchinson-Gilford Progeria Syndrome |
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Dystrophic fingernails, Dystrophic toenail, Alopecia totalis, Absent eyebrow, Dermal atrophy, Pro... |
ORPHA:740 |
Ataxia-Telangiectasia |
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Elevated hepatic transaminase, Decreased circulating antibody level, Polycystic ovaries, Telangie... |
ORPHA:100 |
Scalp-Ear-Nipple Syndrome |
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Fine hair, Abnormal hair morphology, Aplasia/Hypoplasia of the nipples, Nail dysplasia, Abnormali... |
OMIM:181270 |
Lichen Planus Pemphigoides |
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Conjunctivitis, Abnormality of the nail, Hyperkeratosis, Blepharitis, Skin vesicle |
ORPHA:254478 |
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance |
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Prematurely aged appearance, Coarse hair, Reduced subcutaneous adipose tissue |
OMIM:248010 |
Zimmermann-Laband Syndrome 3 |
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Small nail, Hypertrichosis, Low anterior hairline, Absent toenail, Facial hypertrichosis, Long ey... |
OMIM:618658 |
Igg4-Related Pachymeningitis |
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Sinusitis, Lymphadenitis, Nephritis, Increased circulating IgG4 level, Pancreatitis, Parotitis, C... |
ORPHA:449427 |
Pseudo-Torch Syndrome 3 |
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Leukocytosis, Lymphadenitis, Anemia, Acute kidney injury, Congenital thrombocytopenia, Proteinuria |
OMIM:618886 |
Pachyonychia Congenita |
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Epidermoid cyst, Onychogryposis of fingernail, Fingernail dysplasia, Linear arrays of macular hyp... |
ORPHA:2309 |
Arthrogryposis And Ectodermal Dysplasia |
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Entropion, Narrow palpebral fissure, Trichiasis, Ectodermal dysplasia, Absent eyebrow, Atypical s... |
OMIM:601701 |
Ichthyosis With Confetti |
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Hypertrichosis, Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:609165 |
Autosomal Dominant Severe Congenital Neutropenia |
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