Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy |
ORPHA:158025 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
Proliferating Trichilemmal Cyst |
|
Skin ulcer |
ORPHA:492 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... |
ORPHA:2722 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Pyoderma gangrenosum |
OMIM:619986 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Erythema, Skin ulcer |
ORPHA:2337 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia |
OMIM:619126 |
L-Ferritin Deficiency |
|
Restless legs, Alopecia |
OMIM:615604 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail |
OMIM:617294 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Dermatofibrosarcoma Protuberans |
|
Erythema, Skin ulcer |
ORPHA:31112 |
Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis |
ORPHA:1008 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology |
ORPHA:33111 |
Chilblain Lupus 1 |
|
Raynaud phenomenon, Abnormality of the nail, Skin ulcer |
OMIM:610448 |
Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fatigable weak... |
ORPHA:2325 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Facial erythema, Nail dystrophy, Nail dysplasia, Dry skin |
OMIM:212360 |
Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Patchy alopecia |
ORPHA:346 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Dry skin, Nail dystrophy, Trichodysplas... |
ORPHA:2890 |
Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Mast Cell Sarcoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy |
OMIM:608971 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Trichotillomania |
|
Hair-pulling, Alopecia, Compulsive behaviors |
OMIM:613229 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy |
OMIM:616487 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Palmoplantar er... |
OMIM:104100 |
Oliver-Mcfarlane Syndrome |
|
Sparse hair, Alopecia, Long eyelashes, Long eyebrows |
OMIM:275400 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... |
OMIM:129500 |
Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Erythrokeratodermia Variabilis |
|
Alopecia, Abnormal hair morphology, Erythema, Abnormality of the nail, Dry skin, Generalized hirs... |
ORPHA:317 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Nephropathy, Bence Jones Proteinuria, Lymphadenopathy |
ORPHA:100024 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618261 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail |
ORPHA:2251 |
Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Classic Mycosis Fungoides |
|
Alopecia, Erythema, Skin ulcer, Dry skin, Abnormality of the nail |
ORPHA:2584 |
Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration |
OMIM:614213 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:444463 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Hyperkeratosis Lenticularis Perstans |
|
Skin ulcer |
ORPHA:409 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail |
ORPHA:1882 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Moynahan Syndrome |
|
Sparse hair, Alopecia |
ORPHA:2574 |
Porphyria Cutanea Tarda |
|
Facial hypertrichosis, Alopecia, Onycholysis |
OMIM:176100 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Acral ulceration, Skin ulcer |
ORPHA:139578 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Sparse hair, Alopecia, Long eyelashes |
ORPHA:3363 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
Acrogeria |
|
Excessive wrinkled skin, Telangiectasia of the skin, Skin ulcer, Fine hair |
ORPHA:2500 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Limited Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Skin ulcer, Dysphagia, Pulmonary arterial hypertension, Mucosal telan... |
ORPHA:220402 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy |
OMIM:615513 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619164 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Dry skin, Absent pubic hair, Cutis laxa, Scaling ski... |
ORPHA:2269 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Keratoderma Hereditarium Mutilans |
|
Self-injurious behavior, Alopecia, Abnormality of the nail, Abnormal toenail morphology |
ORPHA:494 |
Aplasia Cutis Congenita |
|
Skin ulcer |
ORPHA:1114 |
Aplasia Cutis-Myopia Syndrome |
|
Skin ulcer |
ORPHA:1117 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Lymphadenopathy, Fluctuating splenomegaly |
OMIM:619220 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Congestive heart failure, Dilated cardiomyopathy, Ven... |
OMIM:605676 |
Flynn-Aird Syndrome |
|
Alopecia, Alopecia of scalp |
OMIM:136300 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair |
ORPHA:2985 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Skin ulcer |
ORPHA:2218 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618982 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphadenopathy, Follicular hyperplasia |
OMIM:619846 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy |
ORPHA:158014 |
Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Facial telangiectasia |
ORPHA:50944 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... |
ORPHA:129 |
Generalized Eruptive Histiocytosis |
|
Lymphadenopathy |
ORPHA:157991 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Hirsutism |
OMIM:604931 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Excessive wrinkled skin,... |
ORPHA:3051 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2850 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Nail dys... |
OMIM:612843 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Nail dystrophy, Nail dysplasia |
ORPHA:79397 |
Cronkhite-Canada Syndrome |
|
Alopecia, Abnormal fingernail morphology, Anorexia, Hypoplastic toenails, Dystrophic toenail, Pat... |
ORPHA:2930 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:100025 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Tricuspid regurgitation, Impulsivity, Aggressive behavior, Sinus bradycardia, Fragile n... |
OMIM:261990 |
Takayasu Arteritis |
|
Myocardial infarction, Anorexia, Vasculitis, Skin ulcer, Hypertension, Cerebral ischemia, Pulmona... |
ORPHA:3287 |
Dracunculiasis |
|
Skin ulcer |
ORPHA:231 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy |
OMIM:618987 |
Juvenile Hyaline Fibromatosis |
|
Abnormal hair morphology, Skin ulcer |
ORPHA:2028 |
Fish-Eye Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100083 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormal lymph node morphology |
ORPHA:543 |
Lichen Planopilaris |
|
Alopecia, Onycholysis, Abnormal fingernail morphology, Skin ulcer |
ORPHA:525 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Alopecia, Hyperconvex fingernails, Fatigable weakness, Skin vesicle, Hypoplastic fingernail |
ORPHA:257 |
Systemic Lupus Erythematosus 17 |
|
Raynaud phenomenon, Alopecia, Mitral regurgitation, Hypertensive crisis |
OMIM:301080 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Congestive heart fa... |
ORPHA:3077 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
ORPHA:337 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Splenomegaly, S... |
OMIM:615559 |
Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... |
OMIM:262000 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Anorexia, Paronychia, Erythema, Skin ulcer, R... |
ORPHA:37 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Congestive heart failure, Depression, Fatigable weaknes... |
ORPHA:428 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Alopecia totalis, Lack of skin elasticity |
ORPHA:1366 |
Menkes Disease |
|
Alopecia, Brittle hair, Cutis laxa, Intracranial hemorrhage, Sparse hair |
OMIM:309400 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Skin ulcer, Purpura |
ORPHA:743 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Conjunctival telangiectasia, Alopecia, Dry skin, Nail dystrophy, Scaling skin, Alopecia of scalp |
OMIM:618373 |
Immunodeficiency 52 |
|
Splenomegaly, Lymphadenopathy |
OMIM:617514 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Skin ulcer, ... |
ORPHA:978 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center |
OMIM:608184 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Pfapa Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
OMIM:300853 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Dry skin, Sparse body hair |
ORPHA:177 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Depression, Hypertension, Emotional lability, Hirsutism |
OMIM:615830 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Telangiectasia, Onycholysis, Nail dystrophy, Facial telangie... |
OMIM:614564 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:613101 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, Heart murmur, Nail dystrophy, Atrichia |
ORPHA:1867 |
Bathing Suit Ichthyosis |
|
Alopecia, Palmoplantar scaling skin, Nail dystrophy, Scaling skin, Sparse hair |
ORPHA:100976 |
Immunodeficiency 64 With Lymphoproliferation |
|
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... |
OMIM:618534 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia, Pyoderma gangrenosum |
OMIM:616576 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Palmar tel... |
ORPHA:69735 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Lymphadenopathy |
OMIM:603552 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Agenesis of corpus callosum |
OMIM:164180 |
Polyarteritis Nodosa |
|
Pericarditis, Raynaud phenomenon, Erythema, Skin ulcer, Cardiomyopathy, Hypertension |
ORPHA:767 |
Cold Agglutinin Disease |
|
Splenomegaly, Abnormal urinary color, Lymphadenopathy |
ORPHA:56425 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Alopecia, Pericarditis, Angina pectoris, Telang... |
ORPHA:93672 |
Beta-Thalassemia |
|
Irritability, Hypertrophic cardiomyopathy, Pallor, Skin ulcer |
ORPHA:848 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Sparse eyebrow, Alopecia, Sparse eyelashes, Nail dysplasia |
OMIM:615704 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Lymphadenopathy |
OMIM:212050 |
Hutchinson-Gilford Progeria Syndrome |
|
Congestive heart failure, Alopecia, Angina pectoris, Myocardial infarction |
OMIM:176670 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Aggressive behavior, Hypoplastic t... |
ORPHA:544488 |
Centrifugal Lipodystrophy |
|
Alopecia, Erythema, Scaling skin |
ORPHA:90156 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia, Agitation |
OMIM:618840 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t... |
OMIM:602450 |
Chilblain Lupus |
|
Raynaud phenomenon, Skin ulcer |
ORPHA:90280 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, P... |
OMIM:607823 |
Immunodeficiency 27A |
|
Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly |
OMIM:209950 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly |
OMIM:612840 |
Necrobiosis Lipoidica |
|
Erythema, Skin ulcer |
ORPHA:542592 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Patchy alopecia, Aggressive behavior |
OMIM:247100 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Alopecia, Mitral regurgitation |
ORPHA:88630 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Low anterior hairline, Small nail, Lateral ventricle dilatation |
OMIM:614219 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Lymphadenopathy |
OMIM:611762 |
Caspase 8 Deficiency |
|
Splenomegaly, Lymphadenopathy |
OMIM:607271 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Sparse hair |
ORPHA:659 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Alopecia |
OMIM:203550 |
Flynn-Aird Syndrome |
|
Alopecia, Skin ulcer |
ORPHA:2047 |
Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... |
ORPHA:79153 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Generalized lymphadenopathy |
OMIM:620282 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy |
ORPHA:26790 |
Heme Oxygenase 1 Deficiency |
|
Proteinuria, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Hematuria, Nephritis |
OMIM:614034 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Supernumerary nipple, Erythema, Retinal hemorrhage, Nail pits, Fine hair, ... |
OMIM:308300 |
Bare Lymphocyte Syndrome, Type I |
|
Skin ulcer |
OMIM:604571 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Glomerulonephritis, Lymphadenopathy |
OMIM:619375 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Skin ulcer |
ORPHA:312 |
Nephroblastoma |
|
Hematuria, Lymphadenopathy |
ORPHA:654 |
Pleural Mesothelioma |
|
Lymphadenopathy |
ORPHA:50251 |
Giant Cell Arteritis |
|
Alopecia, Pericarditis, Epistaxis, Sudden cardiac death, Anorexia, Vasculitis, Skin ulcer, Depres... |
ORPHA:397 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, Absence of lymph node germinal center |
ORPHA:277 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia |
OMIM:242510 |
Schnitzler Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:37748 |
Reticular Dysgenesis |
|
Skin ulcer |
ORPHA:33355 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Sparse hair, Dry skin |
OMIM:607626 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Telangiectasia o... |
OMIM:137940 |
Hypomelanosis Of Ito |
|
Alopecia |
OMIM:300337 |
Activated Pi3K-Delta Syndrome |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
ORPHA:397596 |
Familial Multiple Nevi Flammei |
|
Intracranial hemorrhage, Arrhythmia, Skin ulcer, Pulmonary embolism |
ORPHA:624 |
Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Self-injurious behavior, Alopecia, Depression |
OMIM:601853 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Absence of lymph node germinal center |
OMIM:619924 |
Acquired Purpura Fulminans |
|
Shock, Pyoderma gangrenosum, Intracranial hemorrhage, Macular purpura, Internal hemorrhage |
ORPHA:49566 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Dilated cardiomyopathy, Bradycardia, Dry skin |
OMIM:610768 |
Prolidase Deficiency |
|
Abnormal fingernail morphology, Erythema, Low anterior hairline, Skin ulcer, White forelock, Dry ... |
ORPHA:742 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Splenomegaly, Lymphadenopathy |
OMIM:618495 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
Incontinentia Pigmenti |
|
Alopecia, Abnormal fingernail morphology, Telangiectasia of the skin, Supernumerary nipple, Abnor... |
ORPHA:464 |
Ollier Disease |
|
Skin ulcer |
ORPHA:296 |
Brooke-Spiegler Syndrome |
|
Skin appendage neoplasm, Trichoepithelioma, Cylindroma, Skin ulcer |
ORPHA:79493 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:242300 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:150550 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Acral ulceration |
OMIM:613115 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Thin eyebrow |
ORPHA:3242 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Patchy alopecia, Nail dystrophy, Fragile nails |
OMIM:226650 |
Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... |
ORPHA:3392 |
Werner Syndrome |
|
Sparse scalp hair, Telangiectasia of the skin, Myocardial infarction, Abnormal hair whorl, Conges... |
ORPHA:902 |
Hemochromatosis, Type 1 |
|
Alopecia, Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia |
OMIM:235200 |
Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Alopecia, Fine hair |
ORPHA:1839 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Dry skin, Pulmonic stenosis |
OMIM:618282 |
Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Dry skin, Fine hair, P... |
OMIM:129400 |
Holocarboxylase Synthetase Deficiency |
|
Irritability, Alopecia, Anorexia |
ORPHA:79242 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Scaling skin on fingertip, Alopecia, Nail dystrophy, Onychogryposis |
ORPHA:79395 |
Immunodeficiency 54 |
|
Splenomegaly, Lymphadenopathy |
OMIM:609981 |
Indolent Systemic Mastocytosis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:98848 |
Congenital Toxoplasmosis |
|
Lymphadenopathy |
ORPHA:858 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia |
OMIM:215100 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... |
ORPHA:464343 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Agenesis of corpus callosum, Fine hair |
ORPHA:228390 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:607594 |
Sézary Syndrome |
|
Alopecia, Dry skin, Nail dystrophy |
ORPHA:3162 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Thin nail, Abnormal hair morphology, Erythema, Small nail |
OMIM:242100 |
Papa Syndrome |
|
Proteinuria, Lymphadenopathy |
ORPHA:69126 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Hyperactivity, Nail dystrophy, Nail dysplasia, Acral ulceration, Emotional lab... |
OMIM:256800 |
Prolidase Deficiency |
|
Diffuse telangiectasia, Skin ulcer, Low posterior hairline, Facial hirsutism, Petechiae |
OMIM:170100 |
Leishmaniasis |
|
Skin ulcer, Pallor, Anorexia |
ORPHA:507 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Penetrating foot ulcers, Skin ulcer |
ORPHA:36386 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Anorexia, Hematochezia, Nail dystrophy, Nail dysplasia |
OMIM:175500 |
Dermatoosteolysis, Kirghizian Type |
|
Skin ulcer, Dystrophic fingernails, Abnormality of the nail, Dystrophic toenail |
ORPHA:1657 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Skin ulcer |
ORPHA:217390 |
Familial Keratoacanthoma |
|
Skin ulcer |
ORPHA:493 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair |
ORPHA:50812 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Synophrys, Dystrophic toenail, Nail dystrophy, Sparse hair, Dyst... |
ORPHA:3253 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Vasculitis, Skin ulcer, Petechiae, Purpura |
ORPHA:91138 |
Pyoderma Gangrenosum |
|
Skin vesicle, Skin ulcer |
ORPHA:48104 |
Rhabdoid Tumor |
|
Hematuria, Lymphadenopathy |
ORPHA:69077 |
Kury-Isidor Syndrome |
|
Alopecia, Attention deficit hyperactivity disorder, Hypertrichosis |
OMIM:619762 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Coarse hair, Brittle hair, Nail dystrophy |
ORPHA:75389 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the lymphatic system, Abnormal lymph node morphology |
ORPHA:54251 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Nephrotic syndrome, Hepatosplenom... |
ORPHA:911 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Follicular hyperplasia |
OMIM:614470 |
Attenuated Chédiak-Higashi Syndrome |
|
Epistaxis, Skin ulcer |
ORPHA:352723 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Striae distensae, Depression, Hypertension, Emotional lability, Mania, Hirsutism |
ORPHA:189427 |
Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Congestive heart failure, Skin ulcer, Dysphagia, Pulmonary arterial h... |
ORPHA:220393 |
Immunodeficiency 7 |
|
Splenomegaly, Lymphadenopathy |
OMIM:615387 |
Monosomy 18P |
|
Hypertension, Alopecia, Low posterior hairline |
ORPHA:1598 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly, Nephroti... |
OMIM:618935 |
Melkersson-Rosenthal Syndrome |
|
Oligosacchariduria, Lymphadenopathy |
ORPHA:2483 |
Isolated Agammaglobulinemia |
|
Skin ulcer |
ORPHA:229717 |
Systemic Sclerosis |
|
Alopecia, Pericarditis, Nail bed telangiectasia, Right ventricular failure, Raynaud phenomenon, M... |
ORPHA:90291 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Satoyoshi Syndrome |
|
Alopecia, Alopecia universalis |
OMIM:600705 |
Adult Polyglucosan Body Disease |
|
Skin ulcer |
ORPHA:206583 |
Hemifacial Atrophy, Progressive |
|
Patchy alopecia, Poliosis |
OMIM:141300 |
Lymphoproliferative Syndrome 2 |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:615122 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal insufficiency, Proteinuria, Nocturia, Abnormal lymph node morphology, Lymphadenopathy, Tubu... |
ORPHA:85450 |
Immunodeficiency 10 |
|
Lymphadenopathy |
OMIM:612783 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Eryth... |
ORPHA:727 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Sparse hair, Abnormal fingernail morphology, Skin ulcer, Fine hair |
ORPHA:1806 |
Boutonneuse Fever |
|
Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:83313 |
X-Linked Agammaglobulinemia |
|
Alopecia, Skin ulcer |
ORPHA:47 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Congestive heart failure, Premature graying of hair, Intracrani... |
ORPHA:363618 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Intestinal bleeding, Skin ulcer |
ORPHA:424019 |
Free Sialic Acid Storage Disease |
|
Skin ulcer |
ORPHA:834 |
Immunodeficiency 91 And Hyperinflammation |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Hemolytic-uremic syndrome, Lymphad... |
OMIM:619644 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Nep... |
OMIM:603909 |
Keutel Syndrome |
|
Pulmonary arterial hypertension, Alopecia |
ORPHA:85202 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Right bundle branch block, Hyperte... |
OMIM:614008 |
Cinca Syndrome |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:607115 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Alopecia, Portal hypertension, Aplastic/hypoplastic toenail, Absent ... |
ORPHA:974 |
Johnson Neuroectodermal Syndrome |
|
Sparse hair, Absent eyebrow, Alopecia, Absent eyelashes |
ORPHA:2316 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Skin ulcer |
OMIM:613640 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Lymphadenopathy |
ORPHA:79477 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Melena, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial nail... |
OMIM:158310 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy |
ORPHA:2221 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pyoderma gangrenosum |
OMIM:604416 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Heart murmur, Small nail |
ORPHA:166035 |
Congenital Ichthyosiform Erythroderma |
|
Alopecia, Abnormality of the nail |
ORPHA:79394 |
Calciphylaxis |
|
Skin ulcer |
ORPHA:280062 |
Omenn Syndrome |
|
Alopecia, Dry skin, Aplasia/Hypoplasia of the eyebrow |
ORPHA:39041 |
Thyroid Lymphoma |
|
Lymphadenopathy |
ORPHA:97285 |
Castleman Disease |
|
Renal insufficiency, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenop... |
ORPHA:160 |
Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
Macs Syndrome |
|
Alopecia, Redundant skin, Sparse eyebrow, Cutis laxa, Sparse hair |
OMIM:613075 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Sparse hair, Alopecia, Nail dystrophy |
OMIM:616353 |
Infantile Myofibromatosis |
|
Abnormal hair morphology, Skin ulcer |
ORPHA:2591 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Absent eyelashes, Impaired myocardial contractility, Absent toenail, Hypovolemic ... |
ORPHA:158687 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Patchy alopecia, Aggressive behavior |
ORPHA:85279 |
Roifman Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:616651 |
Desmoplastic Small Round Cell Tumor |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:83469 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Alopecia, Pericarditis, Myocarditis, Pulmonary arterial hypertension... |
ORPHA:809 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia |
OMIM:612079 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Abnormal hair morphology, Paronychia, Skin ulcer, Skin vesicle, Dystrophic fingernails |
ORPHA:2314 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619183 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:3226 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Fine hair, Premature graying of hair, Nail dysplasia, Dry skin |
OMIM:613990 |
Roifman Syndrome |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:353298 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Lacunar stroke, Alopecia, Transient ischemic attack |
OMIM:600142 |
Autoimmune Lymphoproliferative Syndrome |
|
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia |
OMIM:601859 |
Reynolds Syndrome |
|
Skin ulcer, Telangiectasia of the skin, Dysphagia, Mucosal telangiectasiae |
ORPHA:779 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:619750 |
Scrub Typhus |
|
Splenomegaly, Renal insufficiency, Lymphadenopathy |
ORPHA:83317 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis |
OMIM:614594 |
Klatskin Tumor |
|
Lymphadenopathy |
ORPHA:99978 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia, Dysphagia |
ORPHA:412057 |
Pachyonychia Congenita |
|
Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dystrophy, Onychogry... |
ORPHA:2309 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Skin ulcer |
ORPHA:86884 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Sparse eyelashes |
OMIM:616367 |
Short Syndrome |
|
Sparse hair, Excessive wrinkled skin, Alopecia |
ORPHA:3163 |
Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Telangiectasia of the skin... |
ORPHA:1775 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymph node hypoplasia, Absent tonsils |
ORPHA:276 |
Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
Chronic Mucocutaneous Candidiasis |
|
Abnormal fingernail morphology, Erythema, Broad nail, Skin ulcer, Abnormal toenail morphology, Ab... |
ORPHA:1334 |
Thymic Neuroendocrine Tumor |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy, Calci... |
ORPHA:97289 |
Acute Radiation Syndrome |
|
Skin ulcer, Scaling skin, Hypotension, Telangiectasia |
ORPHA:454831 |
Colchicine Poisoning |
|
Alopecia, Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arr... |
ORPHA:31824 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Alopecia totalis |
OMIM:300918 |
Adrenoleukodystrophy |
|
Alopecia, Attention deficit hyperactivity disorder |
OMIM:300100 |
Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Alopecia universalis |
OMIM:619208 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Sparse hair, Alopecia, Fragile nails |
OMIM:242150 |
Cushing Disease |
|
Sparse scalp hair, Striae distensae, Myocardial infarction, Fatiguable weakness of proximal limb ... |
ORPHA:96253 |
Neutrophilic Dermatosis, Acute Febrile |
|
Small vessel vasculitis, Dilated cardiomyopathy, Pyoderma gangrenosum, Erythema |
OMIM:608068 |
Bresek Syndrome |
|
Alopecia |
ORPHA:85284 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:308240 |
Leigh Syndrome |
|
Alopecia, Congestive heart failure, Hypertrophic cardiomyopathy, Dysphagia, Frontal hirsutism, Ag... |
ORPHA:506 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Supernumerary nipple |
ORPHA:3224 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Psoriasiform lesion |
ORPHA:169154 |
Griscelli Syndrome |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:381 |
Niemann-Pick Disease, Type A |
|
Splenomegaly, Lymphadenopathy |
OMIM:257200 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail |
OMIM:609638 |
Dermatomyositis |
|
Abnormal hair quantity, Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocardi... |
ORPHA:221 |
Medullary Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:1332 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia |
OMIM:617443 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Nail pits, Premature graying of hair, Nail dystrophy, Budd-Chiari syndrome... |
OMIM:127550 |
Chanarin-Dorfman Syndrome |
|
Alopecia |
OMIM:275630 |
Dominant Beta-Thalassemia |
|
High-output congestive heart failure, Dilated cardiomyopathy, Skin ulcer, Irritability, Pallor, A... |
ORPHA:231226 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Nail dystrophy, Nail dysplasia, Dysphagia |
OMIM:226600 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia |
OMIM:600785 |
Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia |
ORPHA:3143 |
Purine Nucleoside Phosphorylase Deficiency |
|
Splenomegaly, Lymph node hypoplasia |
OMIM:613179 |
Cyclic Neutropenia |
|
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy |
ORPHA:2686 |
Pancreatoblastoma |
|
Abnormal lymph node morphology |
ORPHA:677 |
Progressive Supranuclear Palsy |
|
Impulsivity, Abnormal synaptic transmission, Dysphagia, Depression |
ORPHA:683 |
Holocarboxylase Synthetase Deficiency |
|
Irritability, Alopecia |
OMIM:253270 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy |
OMIM:618048 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Lack of skin elasticity, Breast aplasia |
ORPHA:90153 |
American Trypanosomiasis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:3386 |
Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:142 |
Bartsocas-Papas Syndrome |
|
Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye... |
ORPHA:1234 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Skin ulcer |
OMIM:245660 |
Hypocomplementemic Urticarial Vasculitis |
|
Renal insufficiency, Proteinuria, Splenomegaly, Lymphadenopathy, Hematuria |
ORPHA:36412 |
Behcet Syndrome |
|
Raynaud phenomenon, Irritability, Erythema, Patchy alopecia |
OMIM:109650 |
Ane Syndrome |
|
Motor neuron atrophy, Alopecia |
ORPHA:157954 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... |
ORPHA:35173 |
Primary Myelofibrosis |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:824 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Redundant skin, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, ... |
OMIM:230740 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Sparse hair, Alopecia, Abnormal toenail morphology |
ORPHA:1005 |
Alstrom Syndrome |
|
Hypertension, Alopecia, Dilated cardiomyopathy, Congestive heart failure |
OMIM:203800 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Splenomegaly, Lymphadenopathy |
OMIM:616100 |
Legionnaires Disease |
|
Renal insufficiency, Proteinuria, Splenomegaly, Lymphadenopathy, Hematuria, Bone marrow hypocellu... |
ORPHA:549 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Lymphadenitis, Abnormality of the lymphatic system, Lymphadenopa... |
ORPHA:2035 |
Beta-Thalassemia Intermedia |
|
High-output congestive heart failure, Pallor, Pulmonary arterial hypertension, Skin ulcer |
ORPHA:231222 |
Immunodeficiency 97 With Autoinflammation |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly |
OMIM:619802 |
Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Abnormal fingernail morphology |
ORPHA:3453 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:268400 |
Wiskott-Aldrich Syndrome |
|
Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, Hematemesis, Vasculitis, Sk... |
ORPHA:906 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:608612 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
OMIM:301078 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Lymphadenopathy |
ORPHA:79456 |
Beta-Thalassemia Major |
|
High-output congestive heart failure, Dilated cardiomyopathy, Skin ulcer, Irritability, Pallor, A... |
ORPHA:231214 |
Mandibuloacral Dysplasia |
|
Sparse hair, Alopecia, Hypoplastic fingernail |
ORPHA:2457 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Alopecia, Supraventricular arrhythmia, Low posterior hairline |
ORPHA:2959 |
Gapo Syndrome |
|
Sparse eyebrow, Early balding, Alopecia, Sparse eyelashes |
ORPHA:2067 |
Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy |
OMIM:603554 |
Lymphoproliferative Syndrome 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:613011 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection |
ORPHA:98813 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Abnormal fingernail morphology |
ORPHA:1647 |
Livedoid Vasculopathy |
|
Telangiectasia of the skin, Skin ulcer, Hypertension, Ischemic stroke, Macular purpura, Ecchymosis |
ORPHA:542643 |
Gamma-Heavy Chain Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:100026 |
Aggressive Systemic Mastocytosis |
|
Hypersplenism, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:98850 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
OMIM:135100 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Nail dystrophy, Dysphagia |
OMIM:620040 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal fear-induced behavior, Agitation, Restlessness, Depression |
ORPHA:100924 |
Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Anorexia, Vasculitis, Erythema, Skin ulcer, Purpura |
ORPHA:761 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Acral ulceration |
OMIM:162400 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Generalized lymphadenopathy |
OMIM:620232 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia, Alopecia totalis |
OMIM:618775 |
Satoyoshi Syndrome |
|
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis |
ORPHA:3130 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Lymphadenopathy |
ORPHA:169090 |
Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Hypertension, Coarse hair, Sparse hair, Dry skin, Agenesis of corpus call... |
ORPHA:2750 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Agenesis of corpus callosum |
OMIM:613001 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Patchy alopecia, Scaling skin, Alopecia universalis |
OMIM:606367 |
Leprosy |
|
Absent eyebrow, Alopecia, Epistaxis, Loss of eyelashes, Penetrating foot ulcers, Acral ulceration... |
ORPHA:548 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Alopecia, Nail dystrophy, Alopecia universalis |
OMIM:240300 |
Felty Syndrome |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:47612 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Sudden cardiac death, Erythema, Skin ulcer, Dysphagia, Polydipsia |
ORPHA:537 |
Lig4 Syndrome |
|
Hypoplasia of penis, Lymphadenopathy |
ORPHA:99812 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Congestive heart failure... |
ORPHA:2108 |
Cinca Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:1451 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Abnormal cardiovascular system physiology, Facial telangie... |
ORPHA:168569 |
Vitamin D-Dependent Rickets, Type 2A |
|
Irritability, Alopecia universalis |
OMIM:277440 |
Hyper-Igd Syndrome |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Renal angiomyolipoma, Elevated ... |
OMIM:260920 |
Choreoacanthocytosis |
|
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Aggressive behavi... |
ORPHA:2388 |
Pediatric Systemic Lupus Erythematosus |
|
Raynaud phenomenon, Alopecia |
ORPHA:93552 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Lymphadenopathy |
OMIM:304790 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Intracranial hemorrhage, Hypertension, Alopecia, Hirsutism |
ORPHA:90795 |
Atypical Werner Syndrome |
|
Abnormal hair quantity, Alopecia, Telangiectasia of the skin, Abnormal hair morphology, Abnormal ... |
ORPHA:79474 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling, Synophrys, Irritability, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:447997 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail... |
OMIM:106260 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... |
ORPHA:900 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome, Lymphadenopathy |
ORPHA:139402 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Depression |
OMIM:212750 |
Mogs-Cdg |
|
Alopecia, Fair hair, Long eyelashes, Hirsutism |
ORPHA:79330 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo... |
ORPHA:2232 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms |
OMIM:616393 |
Acute Monoblastic/Monocytic Leukemia |
|
Cervical lymphadenopathy, Oliguria |
ORPHA:514 |
Johanson-Blizzard Syndrome |
|
Alopecia, Abnormal hair pattern |
ORPHA:2315 |
Hereditary Spherocytosis |
|
Restrictive cardiomyopathy, Pallor, Skin ulcer |
ORPHA:822 |
Granulomatosis With Polyangiitis |
|
Retinal hemorrhage, Localized pulmonary hemorrhage, Skin ulcer, Diffuse alveolar hemorrhage |
OMIM:608710 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:613451 |
Steinert Myotonic Dystrophy |
|
Alopecia, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Card... |
ORPHA:273 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Splenomegaly, Lymphadenitis, Vesicoureteral reflux, Lymphadenopathy |
OMIM:615895 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Splenomegaly, Abnormal renal physiology, Lymphadenopathy |
ORPHA:540 |
Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia |
ORPHA:453533 |
Cutaneous Neuroendocrine Carcinoma |
|
Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Portal hypertension, Raynaud phenomenon, Vasculitis, Dilated cardiomyopathy, Skin ulcer, Hyperten... |
OMIM:615688 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Lymphadenopathy |
ORPHA:343 |
Macrophage Activation Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:158061 |
Hajdu-Cheney Syndrome |
|
Abnormal fingernail morphology, Mitral stenosis, Synophrys, Low anterior hairline, Skin ulcer, Co... |
ORPHA:955 |
Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Alopecia totalis |
OMIM:615577 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Alopecia totalis, Nail dystrophy, Hypotension, Abnormality of the periungual region |
ORPHA:293978 |
Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Dry skin, Small ... |
OMIM:263650 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Restlessness, Hyperactivity, Aggressive behavior, Patchy alopecia, Low frustration tolerance, Thi... |
OMIM:300534 |
Scalp-Ear-Nipple Syndrome |
|
Sparse axillary hair, Sparse pubic hair, Congestive heart failure, Fine hair, Supraventricular ta... |
OMIM:181270 |
Mevalonic Aciduria |
|
Fluctuating splenomegaly, Lymphadenopathy, Elevated urine mevalonic acid level, Hepatosplenomegaly |
OMIM:610377 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center |
OMIM:308230 |
Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Erythema, Skin ulcer, Nail dystrophy, Dystrophic fingernails, Dystrop... |
ORPHA:2907 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Abnormal eyelash morphology, Pulmonary arterial hypertension, Aortic valve stenosis, Ag... |
ORPHA:2396 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Pyoderma gangrenosum |
ORPHA:486 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Abnormal hair morphology, Alopecia, Nail dystrophy |
ORPHA:90154 |
Infantile Systemic Hyalinosis |
|
Telangiectasia of the skin, Skin ulcer |
ORPHA:2176 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Splenomegaly, Lymphadenopathy |
ORPHA:436159 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia |
ORPHA:93160 |
Limb-Mammary Syndrome |
|
Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic... |
ORPHA:69085 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:52417 |
Orofaciodigital Syndrome I |
|
Alopecia, Dry hair, Hypertension, Sparse hair, Agenesis of corpus callosum |
OMIM:311200 |
Focal Dermal Hypoplasia |
|
Alopecia, Erythema, Telangiectasia of the skin, Abnormality of the nail |
ORPHA:2092 |
Rothmund-Thomson Syndrome Type 1 |
|
Alopecia totalis, Telangiectasia, Facial erythema, Sparse or absent eyelashes, Nail dysplasia, At... |
ORPHA:221008 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ... |
ORPHA:91139 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Generalized lymphadenopathy, Hepatosplenomegaly |
OMIM:618986 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia |
OMIM:163200 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Dystrophic fingernails, Absent eyebrow, Raynaud p... |
ORPHA:740 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy |
OMIM:614700 |
Aregenerative Anemia |
|
Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:101096 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233710 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Abnormal eyelash morphology, Abnormal hair morphology, Leukonychia, Skin ulcer, Sca... |
ORPHA:2526 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Cardiomyopathy, Alopecia |
ORPHA:98907 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Alopecia, Intraventricular hemorrhage, Cardiomyopathy, Inappropriate laughter, Pulmonic stenosis,... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Alopecia, Intraventricular hemorrhage, Cardiomyopathy, Inappropriate laughter, Pulmonic stenosis,... |
ORPHA:363958 |
Acute Interstitial Pneumonia |
|
Lymphadenopathy |
ORPHA:79126 |
Acute Promyelocytic Leukemia |
|
Hematuria, Lymphadenopathy |
ORPHA:520 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Alopecia, Telangiectasia of the skin, Erythema, Telangiectasia, Dry ... |
ORPHA:910 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Perianal erythema, Absent ... |
OMIM:308205 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Paronychia, Acral ulceration |
OMIM:201300 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Erythema, Nail dystrophy, Onychogryposis |
ORPHA:79396 |
Sympathetic Ophthalmia |
|
Alopecia, Erythema, Retinal hemorrhage, Poliosis |
ORPHA:79098 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233690 |
Chronic Granulomatous Disease |
|
Skin ulcer |
ORPHA:379 |
Multiple Myeloma |
|
Splenomegaly, Lymphadenopathy, Nephrotic syndrome, Nephropathy, Acute kidney injury |
ORPHA:29073 |
Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency, Lymphadenopathy |
ORPHA:293173 |
Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:264090 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lymphadenopathy |
OMIM:617099 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:603553 |
Amoebiasis Due To Free-Living Amoebae |
|
Irritability, Arrhythmia, Skin ulcer, Restlessness |
ORPHA:68 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:267700 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Splenomegaly, Lymphadenopathy |
OMIM:617591 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Sparse scalp hair, Striae distensae, Myocardial infarction, Anorexia, Fatiguable weakness of prox... |
ORPHA:99889 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Alopecia, Redundant skin |
ORPHA:536532 |
Relapsing Polychondritis |
|
Alopecia, Pericarditis, Myocarditis, Erythema, Large vessel vasculitis, Purpura |
ORPHA:728 |
Localized Scleroderma |
|
Abnormal skin adnexa morphology, Raynaud phenomenon, Vasculitis, Erythema, Patchy alopecia, Arrhy... |
ORPHA:90289 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Absence of lymph node germinal center, Urinary retention, Hepatosplenomegaly |
ORPHA:79124 |
Rothmund-Thomson Syndrome |
|
Sparse eyelashes, Alopecia totalis, Telangiectasia of the skin, Sparse eyebrow, Small nail, Nail ... |
ORPHA:2909 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Abnormal hair morphology,... |
ORPHA:2273 |
Chime Syndrome |
|
Sparse hair, Erythema, Skin ulcer, Fine hair |
ORPHA:3474 |
Malakoplakia |
|
Proteinuria, Dysuria, Follicular hyperplasia, Urinary bladder inflammation, Urinary urgency, Hema... |
ORPHA:556 |
Carney Triad |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:139411 |
Parkes Weber Syndrome |
|
Subarachnoid hemorrhage, High-output congestive heart failure, Skin ulcer, Bounding pulse, Scalin... |
ORPHA:90307 |
Monosomy 22Q13.3 |
|
Hyperactivity, Hypoplastic toenails, Hair-pulling, Long eyelashes, Bruxism, Agenesis of corpus ca... |
ORPHA:48652 |
Waldenström Macroglobulinemia |
|
Splenomegaly, Renal insufficiency, Lymphadenopathy |
ORPHA:33226 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Acral ulceration |
OMIM:256840 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia |
OMIM:210210 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Abnormality of the lymphatic system, Lymphadenopathy, Hematuria, Multiple... |
ORPHA:538 |
Graft Versus Host Disease |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:39812 |
Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Skin ulcer, Fine hair, Depression, Self-injurious behavior, Compulsive behavio... |
ORPHA:534 |
Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia |
OMIM:300755 |
Rothmund-Thomson Syndrome Type 2 |
|
Alopecia totalis, Erythema, Facial erythema, Sparse or absent eyelashes, Nail dysplasia, Sparse h... |
ORPHA:221016 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Sparse scalp hair, Alopecia, Onychogryposis |
OMIM:248370 |
Biotinidase Deficiency |
|
Alopecia |
OMIM:253260 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Erythema, Small nail |
OMIM:308050 |
Pgm3-Cdg |
|
Vasculitis in the skin, Skin ulcer |
ORPHA:443811 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Micropenis |
OMIM:602782 |
Systemic Lupus Erythematosus |
|
Raynaud phenomenon, Hypertension, Alopecia, Depression |
ORPHA:536 |
Chronic Graft Versus Host Disease |
|
Alopecia, Anorexia, Erythema, Skin ulcer, Onycholysis, Nail dystrophy, Dysphagia, Skin vesicle |
ORPHA:99921 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Acral ulceration |
OMIM:608654 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Hypertrichosis |
OMIM:263700 |
Distal Deletion 19P |
|
Alopecia, Thick eyebrow |
ORPHA:96129 |
Kikuchi-Fujimoto Disease |
|
Alopecia, Anorexia, Myocarditis, Vasculitis, Erythema, Vasculitis in the skin |
ORPHA:50918 |
Leukocyte Adhesion Deficiency, Type I |
|
Skin ulcer |
OMIM:116920 |
Farber Disease |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:333 |
Woodhouse-Sakati Syndrome |
|
Sparse hair, Abnormal T-wave, Alopecia, Fine hair |
OMIM:241080 |
Hennekam Syndrome |
|
Ectopic kidney, Splenomegaly, Pulmonary lymphangiectasia, Horseshoe kidney, Lymphadenopathy, Lymp... |
ORPHA:2136 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Alopecia, Nail dystrophy |
ORPHA:37042 |
Immunodeficiency 55 |
|
Lymphadenopathy |
OMIM:617827 |
Plague |
|
Tachycardia, Anorexia, Hematemesis, Skin ulcer, Depression, Hypotension, Arrhythmia, Dry skin |
ORPHA:707 |
Sweet Syndrome |
|
Skin vesicle, Small vessel vasculitis, Dilated cardiomyopathy, Pyoderma gangrenosum |
ORPHA:3243 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Lymphadenopathy |
OMIM:617718 |
Familial Mediterranean Fever |
|
Proteinuria, Splenomegaly, Lymphadenopathy, Nephrocalcinosis, Nephrotic syndrome, Nephropathy |
ORPHA:342 |
Primary Sjögren Syndrome |
|
Raynaud phenomenon, Vasculitis, Skin ulcer, Depression, Arteritis, Dry skin, Purpura |
ORPHA:289390 |
Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Lymphadenitis, Urinary bladder inflammation, Chronic kidney dis... |
ORPHA:449395 |
Adams-Oliver Syndrome 1 |
|
Alopecia, Supernumerary nipple, Hypertension, Pulmonic stenosis, Small nail, Pulmonary arterial h... |
OMIM:100300 |
Woodhouse-Sakati Syndrome |
|
Abnormal T-wave, Alopecia, Scaling skin, Aplasia/Hypoplasia of the eyebrow |
ORPHA:3464 |
Q Fever |
|
Hematuria, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:781 |
Familial Pancreatic Carcinoma |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:1333 |
Chediak-Higashi Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:214500 |
Fusariosis |
|
Paronychia, Skin ulcer |
ORPHA:228119 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent peripheral lymph nodes in presence of infection |
OMIM:600802 |
Biotinidase Deficiency |
|
Alopecia |
ORPHA:79241 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Skin ulcer, Pulmonary arterial hypertension, Abnormal temper ta... |
ORPHA:2072 |
Cherubism |
|
Submandibular lymph node enlargement |
OMIM:118400 |
Blau Syndrome |
|
Hypertension, Pericarditis, Skin ulcer |
OMIM:186580 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Lymphadenopathy |
ORPHA:83471 |
Autosomal Recessive Robinow Syndrome |
|
Alopecia, Long eyelashes, Fingernail dysplasia |
ORPHA:1507 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Splenomegaly, Polysplenia, Lymphadenopathy |
OMIM:619418 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Splenomegaly, Lymphadenopathy |
ORPHA:98849 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Tubulointerstitial fibrosis, Lymphadenopathy |
OMIM:607944 |
Adenocarcinoma Of The Anal Canal |
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Intestinal bleeding, Skin ulcer |
ORPHA:424016 |
Granulomatous Disease, Chronic, X-Linked |
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Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:306400 |
Common Variable Immunodeficiency |
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Splenomegaly, Lymphadenopathy |
ORPHA:1572 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Alopecia, Paronychia, Dilated cardiomyopathy, Nail dystrophy, Bradycardia, Anonychia, Abnormality... |
ORPHA:79404 |
Tangier Disease |
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Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly |
ORPHA:31150 |
Poems Syndrome |
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Lymphadenopathy |
ORPHA:2905 |
Insulin-Resistance Syndrome Type B |
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Alopecia, Hirsutism |
ORPHA:2298 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
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Sparse hair, Scaling skin, Nail dystrophy, Alopecia universalis |
ORPHA:158668 |
Autosomal Dominant Robinow Syndrome |
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Alopecia, Curly eyelashes, Long eyelashes, Fingernail dysplasia, Ridged fingernail, Onychogryposi... |
ORPHA:3107 |
African Trypanosomiasis |
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Abnormal EKG, Alopecia, Pericarditis, Aggressive behavior, Myocarditis, Congestive heart failure,... |
ORPHA:3385 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Prolonged QT interval, Alopecia, Abnormal fingernail morphology, Myocardial infarction, Hypoplast... |
ORPHA:99413 |
Turner Syndrome |
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Prolonged QT interval, Alopecia, Abnormal fingernail morphology, Myocardial infarction, Hypoplast... |
ORPHA:881 |
Mosaic Monosomy X |
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Prolonged QT interval, Alopecia, Abnormal fingernail morphology, Myocardial infarction, Hypoplast... |
ORPHA:99228 |
Monosomy X |
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Prolonged QT interval, Alopecia, Abnormal fingernail morphology, Myocardial infarction, Hypoplast... |
ORPHA:99226 |
Blau Syndrome |
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Pericarditis, Erythema, Skin ulcer, Large vessel vasculitis, Hypertension, Pulmonary arterial hyp... |
ORPHA:90340 |
Dyskeratosis Congenita, X-Linked |
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Ridged nail, Split nail, Alopecia, Sparse eyelashes, Pterygium of nails, Premature graying of hai... |
OMIM:305000 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... |
OMIM:620330 |
Autoimmune Polyendocrine Syndrome, Type Ii |
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Alopecia |
OMIM:269200 |
Autoimmune Lymphoproliferative Syndrome |
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Renal insufficiency, Chronic noninfectious lymphadenopathy, Glomerulonephritis, Hypersplenism, Sp... |
ORPHA:3261 |
Charcot-Marie-Tooth Disease Type 4B2 |
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Penetrating foot ulcers |
ORPHA:99956 |
Linear Nevus Sebaceus Syndrome |
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Alopecia |
ORPHA:2612 |
Selective Igm Deficiency |
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Lymphadenitis, Lymphadenopathy |
ORPHA:331235 |
Phakomatosis Pigmentokeratotica |
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Raynaud phenomenon, Arrhythmia, Patchy alopecia |
ORPHA:2874 |
Ileal Neuroendocrine Tumor |
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Hydronephrosis, Lymphadenopathy |
ORPHA:100078 |
Gallbladder Neuroendocrine Tumor |
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Chronic noninfectious lymphadenopathy |
ORPHA:100086 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
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Lymphadenopathy, Hepatosplenomegaly |
ORPHA:85408 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Pilomatrixoma, A... |
ORPHA:353281 |
Immunodeficiency 31C |
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Splenomegaly, Lymphadenopathy |
OMIM:614162 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Abnormal lateral ventricle morphology, Hyperactivity, Trichiasis, Highly arched eyebrow, Cardiac ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Abnormal lateral ventricle morphology, Hyperactivity, Trichiasis, Highly arched eyebrow, Cardiac ... |
ORPHA:353277 |
Chédiak-Higashi Syndrome |
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Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:167 |
Coccidioidomycosis |
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Abnormality of the spleen, Renal insufficiency, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:228123 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Trichiasis, Oral-pharyngeal dysphagia, Anorexia, Skin ulcer, Depression, Nail dystrophy, Anonychia |
ORPHA:95455 |
Autoimmune Polyendocrinopathy Type 4 |
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Alopecia |
ORPHA:227990 |
Ring Chromosome 13 Syndrome |
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Alopecia, Agenesis of corpus callosum |
ORPHA:96176 |
Autoimmune Polyendocrinopathy Type 3 |
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Alopecia |
ORPHA:227982 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Sparse hair, Alopecia, Loss of eyelashes, Thin eyebrow |
ORPHA:2636 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
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Splenomegaly, Lymphadenopathy |
ORPHA:32960 |
Vascular Ehlers-Danlos Syndrome |
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Alopecia, Telangiectasia of the skin, Transient ischemic attack, Redundant skin, Abnormality of h... |
ORPHA:286 |
Igg4-Related Submandibular Gland Disease |
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Renal insufficiency, Lymphadenopathy |
ORPHA:449432 |
Viss Syndrome |
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Sparse scalp hair, Alopecia, Epidural hemorrhage, Cutis laxa, Dysphagia, Pulmonary arterial hyper... |
OMIM:619472 |
Sarcoidosis |
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Alopecia, Abnormal cardiac ventricular function, Portal hypertension, Heart block, Ventricular ta... |
ORPHA:797 |
Chikungunya |
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Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:324625 |
Behçet Disease |
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Splenomegaly, Renal insufficiency, Lymphadenopathy |
ORPHA:117 |
Brucellosis |
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Hypersplenism, Splenomegaly, Glomerulonephritis, Lymphadenopathy |
ORPHA:1304 |
Autosomal Recessive Malignant Osteopetrosis |
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Splenomegaly, Lymphadenopathy |
ORPHA:667 |
Focal Dermal Hypoplasia |
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Ridged nail, Brittle hair, Supernumerary nipple, Telangiectasia, Patchy alopecia, Nail dystrophy,... |
OMIM:305600 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Alopecia |
OMIM:619321 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Tubulointerstitial nephritis, Lymphadenopathy |
ORPHA:79078 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
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Acral ulceration |
OMIM:256810 |
Immunodeficiency 82 With Systemic Inflammation |
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Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:619381 |
Crimean-Congo Hemorrhagic Fever |
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Hematuria, Splenomegaly, Proteinuria, Lymphadenopathy |
ORPHA:99827 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Splenomegaly, Lymphadenopathy |
OMIM:256040 |
Split Cord Malformation |
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Tufted hairs, Penetrating foot ulcers, Hypertrichosis |
ORPHA:573278 |
Marburg Hemorrhagic Fever |
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Renal insufficiency, Lymphadenopathy |
ORPHA:99826 |
Igg4-Related Ophthalmic Disease |
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Lymphadenopathy |
ORPHA:449563 |
Leptospirosis |
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Cellular urinary casts, Acute kidney injury, Lymphadenopathy |
ORPHA:509 |
Pallister-Killian Syndrome |
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Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter... |
OMIM:601803 |
Leukocyte Adhesion Deficiency |
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Pyoderma gangrenosum, Nail dystrophy |
ORPHA:2968 |