| Lipedema |
|
Edema |
OMIM:614103 |
| 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 |
| 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 |
| Angioedema, Hereditary, 6 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619363 |
| 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 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
| L-Ferritin Deficiency |
|
Restless legs, Alopecia |
OMIM:615604 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... |
ORPHA:2722 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
| Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail |
OMIM:617294 |
| Thumb Deformity And Alopecia |
|
Alopecia, Short stature |
OMIM:188150 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
| 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 |
| Moynahan Syndrome |
|
Sparse hair, Alopecia, Short stature, Cachexia |
ORPHA:2574 |
| Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Trichotillomania |
|
Hair-pulling, Alopecia, Compulsive behaviors |
OMIM:613229 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
| Oliver-Mcfarlane Syndrome |
|
Alopecia, Severe short stature, Small for gestational age, Long eyebrows, Long eyelashes, Delayed... |
OMIM:275400 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Decrease... |
ORPHA:2985 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Multiple lipomas, Thrombocytopenia |
ORPHA:529 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Severe short stature, Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
| Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis |
ORPHA:1008 |
| Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
| Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
| Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Small for gestational age, Growth delay, Long eyelashes, Sparse hair |
ORPHA:3363 |
| Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
| Preeclampsia/Eclampsia 1 |
|
Intrauterine growth retardation, Edema |
OMIM:189800 |
| Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
| Kerion Celsi |
|
Alopecia |
ORPHA:499 |
| Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
| Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Short stature, Spa... |
OMIM:129500 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy |
OMIM:616487 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Severe short stature, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, ... |
ORPHA:2251 |
| Cortisone Reductase Deficiency 1 |
|
Alopecia, Obesity, Hirsutism |
OMIM:604931 |
| Macular Dystrophy, Dominant Cystoid |
|
Cystoid macular edema, Edema |
OMIM:153880 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Short stature, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dy... |
ORPHA:1882 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... |
ORPHA:494444 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Failure to... |
OMIM:615285 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Short stature, Abnormal hair morphology, Weight loss, Abnormality of the nail, Generali... |
ORPHA:317 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
| Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Failure to thrive, Th... |
OMIM:229050 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Short stature, Growth delay, Sparse body hair, Aplasia/Hypoplasia of... |
ORPHA:2850 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia, Dystonia |
OMIM:619302 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... |
ORPHA:2325 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Severe postnatal growth retardation, Alopecia, Severe short stature |
OMIM:203550 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia, Dystonia |
OMIM:619301 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Tremor, Splenomegaly, Dystonia, Thrombocytopenia |
OMIM:615010 |
| Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... |
ORPHA:2890 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair, Short stature, Intrauterine growth retardation, Failure to thrive |
ORPHA:50812 |
| Aicardi-Goutieres Syndrome 3 |
|
Dystonia, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia |
ORPHA:346 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Failure to thrive |
ORPHA:337 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Decreased body weight |
OMIM:613606 |
| Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... |
ORPHA:129 |
| Porphyria Cutanea Tarda |
|
Facial hypertrichosis, Alopecia, Onycholysis |
OMIM:176100 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Cronkhite-Canada Syndrome |
|
Alopecia, Abnormal fingernail morphology, Cachexia, Anorexia, Hypoplastic toenails, Dystrophic to... |
ORPHA:2930 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Short stature, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obes... |
ORPHA:3077 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Thrombocytopenia |
OMIM:598500 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Hypoglycemia, Thrombocytopenia |
ORPHA:67048 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
| Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Growth delay, Nail dysplasia, Delayed puberty |
OMIM:615704 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... |
OMIM:155100 |
| Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... |
OMIM:262000 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Congenital Ichthyosiform Erythroderma |
|
Alopecia, Failure to thrive, Short stature, Abnormality of the nail |
ORPHA:79394 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Intention tremor |
OMIM:610539 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:615715 |
| White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
| Keratoderma Hereditarium Mutilans |
|
Self-injurious behavior, Alopecia, Abnormality of the nail, Abnormal toenail morphology |
ORPHA:494 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Anorexia, Weight loss, Growth delay, Irritability |
ORPHA:79242 |
| Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:721 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Nail dystrophy, Sparse hair, Intrauterine growth retardation, Failure to thrive |
OMIM:616353 |
| Flynn-Aird Syndrome |
|
Alopecia, Alopecia of scalp |
OMIM:136300 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Slc35A1-Cdg |
|
Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia |
ORPHA:238459 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Severe failure to thrive, Alopecia, Severe short stature, Rhizomelia |
OMIM:215100 |
| Rapidly Involuting Congenital Hemangioma |
|
Lipoatrophy, Thrombocytopenia |
ORPHA:141184 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dystrophy, Alopecia totalis, Nail dysplasia |
OMIM:212360 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Nail dystrophy, Nail dysplasia |
ORPHA:79397 |
| Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
| Immunodeficiency 46 |
|
Failure to thrive, Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
| Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Rhizomelia, Short stature, Growth delay, Sparse body hair |
ORPHA:177 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Increased body weight, Depression, Emotional lability, Hirsutism |
OMIM:615830 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Niemann-Pick Disease, Type B |
|
Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia |
OMIM:607616 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dystonia, Splenomegaly, Choreoathetosis, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia |
ORPHA:79312 |
| Wt Limb-Blood Syndrome |
|
Pancytopenia, Joint contracture of the 5th finger, Leukemia, Hypoplastic anemia, Thrombocytopenia |
OMIM:194350 |
| Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
| Nicolaides-Baraitser Syndrome |
|
Alopecia, Severe short stature, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Lo... |
ORPHA:3051 |
| Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
| Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Short stature, Anorexia, Paronychia, Weight l... |
ORPHA:37 |
| Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... |
OMIM:231200 |
| Alpha-Heavy Chain Disease |
|
Growth delay, Alopecia |
ORPHA:100025 |
| Preeclampsia |
|
Type I diabetes mellitus, Small for gestational age, Thrombocytopenia |
ORPHA:275555 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, Short stature, Growth delay, Nail dystrophy, Atrichia |
ORPHA:1867 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
| Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Severe short stature, Cachexia, Growth delay, Thin eyebrow |
ORPHA:3242 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia, Agitation |
OMIM:618840 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Dystonia, Thrombocytopenia |
OMIM:610333 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Failure to thrive, Thrombocytopenia, Amelogenesis imperfecta |
OMIM:614727 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Neutropenia, Choreoathetosis, Anemia, Dystonia, Thrombocytopenia |
ORPHA:289916 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... |
ORPHA:79153 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:616435 |
| Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia |
OMIM:242510 |
| Systemic Lupus Erythematosus 17 |
|
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
| Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Sparse hair, Failure to thrive |
ORPHA:2316 |
| Isolated Agammaglobulinemia |
|
Abnormality of neutrophils, Thrombocytopenia, Cellulitis, Abnormal lymphocyte morphology, Failure... |
ORPHA:229717 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Nail dystrophy, Nail dysp... |
OMIM:612843 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Patchy alopecia, Aggressive behavior |
OMIM:247100 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Short stature, Coarse hair, Nail dystrophy, Intrauterine growth retardation |
ORPHA:75389 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Menkes Disease |
|
Alopecia, Brittle hair, Short stature, Sparse hair, Intrauterine growth retardation |
OMIM:309400 |
| Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Alopecia, Short stature, Depression, Self-injurious behavior |
OMIM:601853 |
| Satoyoshi Syndrome |
|
Alopecia, Short stature, Alopecia universalis |
OMIM:600705 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Short stature, Sparse hair, Failure to thrive, Fragile nails |
OMIM:242150 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Failure to thrive, Anemia |
OMIM:615085 |
| Gaucher Disease, Type Iii |
|
Splenomegaly, Pancytopenia, Thrombocytopenia, Decreased body weight |
OMIM:231000 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia, Thrombocytopenia |
OMIM:249270 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... |
OMIM:304790 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia, Short stature, Delayed puberty |
OMIM:612079 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
| Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
| Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia, Camptodactyly |
OMIM:619751 |
| Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Failur... |
OMIM:226990 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A... |
OMIM:607823 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... |
OMIM:601399 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Impulsivity, Aggressive behavior, Fragile nails, Small nail, Pili torti, Trichorrhexis ... |
OMIM:261990 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lipodystrophy, B lymphocytopenia, Failure to thrive, Decreased proportio... |
OMIM:618048 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair |
ORPHA:69735 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Failure to thrive, Thrombocytopenia |
OMIM:619151 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia |
OMIM:613101 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia, Am... |
OMIM:617475 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow |
OMIM:614564 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Choreoathetosis, Leukopenia, Anemia, Thrombocytopenia |
ORPHA:27 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Patchy alopecia, Nail dystrophy, Fragile nails |
OMIM:226650 |
| Propionic Acidemia |
|
Pancytopenia, Hypoglycemia, Neutropenia, Anemia, Dystonia, Failure to thrive, Thrombocytopenia |
OMIM:606054 |
| Congenital Toxoplasmosis |
|
Thrombocytopenia, Failure to thrive in infancy, Anemia |
ORPHA:858 |
| Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Short stature, Nail dystrophy, Dysphagia, Intrauterine growth retarda... |
OMIM:620040 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia, Short stature |
ORPHA:88630 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:242300 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Failure to thrive, Flexion contracture |
OMIM:618201 |
| Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Thro... |
ORPHA:507 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Failure to thrive, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombo... |
OMIM:616050 |
| Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
| Insulin-Resistance Syndrome Type B |
|
Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Increased body... |
ORPHA:2298 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Tremor, Thrombocytopenia |
OMIM:222300 |
| Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
| Hypomelanosis Of Ito |
|
Alopecia |
OMIM:300337 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
| Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal... |
ORPHA:824 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Hypoglycemia, Tremor, Athetosis, Dystonia, Thrombocytopenia |
OMIM:617710 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pancytopenia, Diabetes mellitus, Anemia, Leukopenia, Failure to thrive, Thrombocytopenia |
OMIM:613845 |
| Kury-Isidor Syndrome |
|
Growth delay, Alopecia, Attention deficit hyperactivity disorder, Hypertrichosis |
OMIM:619762 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
| Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
| Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Alopecia, Fine hair |
ORPHA:1839 |
| Aicardi-Goutieres Syndrome 5 |
|
Flexion contracture, Thrombocytopenia |
OMIM:612952 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Large for gestational age, Hypopla... |
ORPHA:544488 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Type I diabetes m... |
OMIM:301078 |
| Classic Mycosis Fungoides |
|
Alopecia, Abnormality of the nail |
ORPHA:2584 |
| Pachyonychia Congenita |
|
Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dystrophy, Failure t... |
ORPHA:2309 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
| Localized Junctional Epidermolysis Bullosa |
|
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... |
ORPHA:251393 |
| Flynn-Aird Syndrome |
|
Alopecia, Cachexia |
ORPHA:2047 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cachexia, Anorexia, Nail dystrophy, Nail dysplasia |
OMIM:175500 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Diabetes mellitus, Anemia, Opisthotonus |
OMIM:184850 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
| Congenital Rubella Syndrome |
|
Splenomegaly, Thrombocytopenia, Anemia, Type I diabetes mellitus |
ORPHA:290 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Diabetes mellitus |
ORPHA:3198 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair, Failure to thrive |
OMIM:605676 |
| Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Short stature, Postnatal growth retardation, Weight loss, Depression, Delayed puberty, ... |
OMIM:212750 |
| Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:618116 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Patchy alopecia, Short stature, Aggressive behavior |
ORPHA:85279 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Type I diabetes mellitus, Thrombocytopenia, Lymphopenia, Anemia |
OMIM:620365 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Failure to thrive, Absent circulating B cells |
OMIM:619693 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Severe short stature, Moderate postnatal growth retardation, Sparse hair, Intrauterine ... |
ORPHA:1005 |
| X-Linked Agammaglobulinemia |
|
Alopecia, Failure to thrive, Short stature, Weight loss |
ORPHA:47 |
| Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
| Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Anemia, Leu... |
OMIM:613011 |
| Isovaleric Acidemia |
|
Leukopenia, Pancytopenia, Thrombocytopenia |
OMIM:243500 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
| Noonan Syndrome 12 |
|
Lymphopenia, Thrombocytopenia |
OMIM:618624 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... |
ORPHA:158057 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Gm2 Gangliosidosis, Ab Variant |
|
Postnatal growth retardation, Abnormal fear-induced behavior, Inappropriate behavior, Short stature |
ORPHA:309246 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Alopecia totalis |
ORPHA:1366 |
| Babesiosis |
|
Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia |
ORPHA:108 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Large for gestational age, Anemia, Neutropenia, Umbilical hernia, Failure to thrive, Thrombocytop... |
OMIM:614520 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Vestibular areflexia, Hypochromic microcytic anemia, Dystonia, Thrombocytopenia |
ORPHA:3240 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Thin nail, Abnormal hair morphology, Growth delay, Small nail |
OMIM:242100 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of... |
ORPHA:2269 |
| Stt3B-Cdg |
|
Failure to thrive, Thrombocytopenia |
ORPHA:370924 |
| Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Short stature, Sparse eyebrow, Fine ha... |
OMIM:129400 |
| Fetal Gaucher Disease |
|
Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Arthrogryposis multip... |
ORPHA:85212 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Increased ... |
OMIM:617021 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb... |
OMIM:308240 |
| Bresek Syndrome |
|
Growth delay, Intrauterine growth retardation, Alopecia |
ORPHA:85284 |
| Transaldolase Deficiency |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:101028 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Synophrys, Dystrophic toenail, Nail dystrophy, Sparse hair, Dyst... |
ORPHA:3253 |
| Lichen Planopilaris |
|
Alopecia, Onycholysis, Abnormal fingernail morphology |
ORPHA:525 |
| Rhabdoid Tumor |
|
Thrombocytopenia, Anemia, Weight loss |
ORPHA:69077 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Weight loss, Inc... |
ORPHA:98850 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... |
OMIM:153670 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Myeloprolifer... |
ORPHA:3226 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia |
OMIM:150550 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Lipodystrophy, Splenomegaly, Flexion contracture, Anemia, Panniculitis, Failure to t... |
OMIM:617591 |
| Hemifacial Atrophy, Progressive |
|
Patchy alopecia, Poliosis |
OMIM:141300 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:848 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Anemia |
ORPHA:2123 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Failure to thrive, Thrombocytopenia |
OMIM:615597 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
| Atelis Syndrome 1 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:620184 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia |
OMIM:274240 |
| Lig4 Syndrome |
|
Pancytopenia, Small for gestational age, Acute lymphoblastic leukemia, Type II diabetes mellitus,... |
OMIM:606593 |
| Oculocerebrocutaneous Syndrome |
|
Alopecia |
OMIM:164180 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Dystonia, Neonatal hypoglycemia, Tremor, Flexion contracture, Opisthotonus, Choreoathetosis, Leuk... |
OMIM:616271 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Amelogenesis imperfecta |
OMIM:612783 |
| Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Short stature, Supernumerary nipple, Nail pits, Fine hair, Coarse hair, Br... |
OMIM:308300 |
| Monosomy 18P |
|
Alopecia, Short stature, Low posterior hairline |
ORPHA:1598 |
| Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... |
ORPHA:978 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hypoglycemia, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia |
OMIM:251000 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Normochromic anemia, Neutropenia, Failure to thrive, Thrombocytopenia |
OMIM:614857 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Thrombocytopenia |
OMIM:231095 |
| Myh9-Related Disease |
|
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Truncal obesity, Alopecia, Supernumerary nipple |
ORPHA:3224 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Intrauterine growth retardation, Alopecia, Fine hair |
ORPHA:228390 |
| Bathing Suit Ichthyosis |
|
Sparse hair, Alopecia, Nail dystrophy |
ORPHA:100976 |
| Necrotizing Enterocolitis |
|
Small for gestational age, Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Hyperglycemia... |
ORPHA:391673 |
| Short Syndrome |
|
Sparse hair, Alopecia, Severe short stature, Weight loss |
ORPHA:3163 |
| Smith-Kingsmore Syndrome |
|
Umbilical hernia, Hypoglycemia, Thrombocytopenia, Large for gestational age |
OMIM:616638 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Growth delay, Nail dystrophy, Nail dysplasia, Dysphagia |
OMIM:226600 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
| Johanson-Blizzard Syndrome |
|
Alopecia, Short stature, Abnormal hair pattern, Intrauterine growth retardation, Failure to thrive |
ORPHA:2315 |
| Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... |
OMIM:139090 |
| Keutel Syndrome |
|
Alopecia, Short stature |
ORPHA:85202 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Short stature, Fine hair, Premature graying of hair, Growth delay, Nail dysplasia, Intr... |
OMIM:613990 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
| Adams-Oliver Syndrome 2 |
|
Alopecia, Low anterior hairline, Small nail |
OMIM:614219 |
| Hutchinson-Gilford Progeria Syndrome |
|
Growth delay, Alopecia |
OMIM:176670 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Thrombocytopenia, Leukopenia |
OMIM:152700 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Increased body weight, Depression, Abdominal obesity, Emotional lability, Mania, Hirsutism |
ORPHA:189427 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Postnatal growth retardation, Alopecia |
ORPHA:453533 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Failure to thrive, Thrombocytopenia |
OMIM:616577 |
| Alg8-Cdg |
|
Abnormality of subcutaneous fat tissue, Small for gestational age, Anemia, Camptodactyly, Failure... |
ORPHA:79325 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Failure to thrive, Thrombocytopenia |
OMIM:619644 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Small nail, Intrauterine growth retard... |
ORPHA:166035 |
| Macs Syndrome |
|
Alopecia, Short stature, Sparse eyebrow, Decreased body weight, Sparse hair |
OMIM:613075 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis |
OMIM:614594 |
| Mandibuloacral Dysplasia |
|
Sparse hair, Alopecia, Postnatal growth retardation, Hypoplastic fingernail |
ORPHA:2457 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
| Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Alopecia universalis |
OMIM:619208 |
| Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Sparse eyebrow, Alopecia, Failure to thrive, Sparse eyelashes |
OMIM:610768 |
| Sea-Blue Histiocytosis |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
| Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Alopecia totalis |
OMIM:300918 |
| Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma... |
ORPHA:100026 |
| Omenn Syndrome |
|
Alopecia, Failure to thrive, Aplasia/Hypoplasia of the eyebrow |
ORPHA:39041 |
| Cog4-Cdg |
|
Failure to thrive in infancy, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:263501 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Delayed menarche, Alopecia, Dysphagia |
ORPHA:412057 |
| Felty Syndrome |
|
Splenomegaly, Cellulitis, Weight loss, Anemia, Neutropenia, Abnormal lymphocyte morphology, Throm... |
ORPHA:47612 |
| Hyperekplexia 2 |
|
Exaggerated startle response, Hiatus hernia |
OMIM:614619 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ... |
ORPHA:331206 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Alopecia |
OMIM:615559 |
| Pseudo-Torch Syndrome 1 |
|
Splenomegaly, Dystonia, Umbilical hernia, Failure to thrive, Thrombocytopenia |
OMIM:251290 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Growth delay, Irritability, Failure to thrive, Alopecia universalis |
OMIM:277440 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Failure to thrive, Thrombocytopenia |
ORPHA:90045 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail |
ORPHA:257 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
| Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:398124 |
| Satoyoshi Syndrome |
|
Abnormal hair morphology, Sparse or absent eyelashes, Short stature, Alopecia universalis |
ORPHA:3130 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Thrombocytopenia, Failure to thrive, Anemia, Camptodactyly |
OMIM:608104 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail |
OMIM:609638 |
| Adams-Oliver Syndrome |
|
Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Failure to thrive, Hypopl... |
ORPHA:974 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Restlessness, Hyperactivity, Short stature, Aggressive behavior, Patchy alopecia, Low frustration... |
OMIM:300534 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Alopecia of scalp, Nail dystrophy |
OMIM:618373 |
| Hyperekplexia 3 |
|
Exaggerated startle response, Hiatus hernia |
OMIM:614618 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair |
OMIM:607626 |
| Transaldolase Deficiency |
|
Pancytopenia, Small for gestational age, Splenomegaly, Hepatosplenomegaly, Anemia, Failure to thr... |
OMIM:606003 |
| Immunodeficiency 22 |
|
Anemia, Panniculitis, Decreased proportion of CD4-positive helper T cells, Failure to thrive, Thr... |
OMIM:615758 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Short stature, Small for gestation... |
OMIM:268400 |
| Hyperekplexia 1 |
|
Umbilical hernia, Exaggerated startle response, Inguinal hernia |
OMIM:149400 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Tremor, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:274150 |
| Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Sparse eyelashes |
OMIM:616367 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Alopecia, Small for gestational age, Short stature, Low posterior hairline, Delayed puberty |
ORPHA:2959 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Tularemia |
|
Thrombocytopenia, Leukocytosis, Anemia |
ORPHA:3392 |
| Intermediate Osteopetrosis |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
| Overlap Myositis |
|
Leukopenia, Diabetes mellitus, Abnormality of connective tissue, Thrombocytopenia |
ORPHA:206572 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Nail dystrophy, Onychogryposis |
ORPHA:79395 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia |
ORPHA:3143 |
| Adrenoleukodystrophy |
|
Alopecia, Attention deficit hyperactivity disorder |
OMIM:300100 |
| Wilson Disease |
|
Splenomegaly, Increased body weight, Weight loss, Anemia, Failure to thrive, Thrombocytopenia |
ORPHA:905 |
| Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Tremor, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia |
OMIM:251100 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Short stature, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scal... |
ORPHA:35173 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes |
OMIM:137940 |
| Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Short stature, Sparse eyebrow, Early balding, Growth delay |
ORPHA:2067 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Tremor, Thrombocytopenia, Splenomegaly, Neutropenia, L... |
OMIM:214500 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukocytosis, Weight loss, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:520 |
| Chanarin-Dorfman Syndrome |
|
Alopecia |
OMIM:275630 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:259710 |
| Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Short stature, Sparse eyebrow, Growth delay, Nail ... |
OMIM:614008 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Sparse hair, Alopecia, Brittle hair, Growth delay |
OMIM:608612 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Splenomegaly, Enamel hypoplasia, Failure to thrive, Thrombocytopenia |
OMIM:614576 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia |
OMIM:605432 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Sparse hair, Alopecia, Abnormal fingernail morphology |
ORPHA:659 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Intrauterine growth retardation, Small for gestational age, Alopecia totalis |
OMIM:618775 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
| Ane Syndrome |
|
Alopecia, Short stature, Delayed puberty |
ORPHA:157954 |
| Sézary Syndrome |
|
Alopecia, Nail dystrophy |
ORPHA:3162 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Joint contracture, Exaggerated startle response, Failure to thrive |
OMIM:616881 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Failure to thrive |
ORPHA:169154 |
| Braddock-Carey Syndrome 1 |
|
Enamel hypoplasia, Thrombocytopenia, Camptodactyly |
OMIM:619980 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Cellulitis, Decreased eosinophil count, Lymphopenia, Thrombocytopenia |
ORPHA:2686 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Gro... |
ORPHA:2232 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Short stature, Abnormal hair morphology, Nail dystrophy, Delayed puberty |
ORPHA:90154 |
| Holocarboxylase Synthetase Deficiency |
|
Irritability, Alopecia |
OMIM:253270 |
| Centrifugal Lipodystrophy |
|
Alopecia |
ORPHA:90156 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia |
OMIM:600785 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... |
ORPHA:86839 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Diabetes mellitus, Anemia |
ORPHA:169105 |
| Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Anemia, Weight loss |
ORPHA:90060 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypoglycemia, Thrombocytopenia |
OMIM:611126 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Thrombocytopenia, Hepatosplenomegaly |
ORPHA:210136 |
| Relapsing Fever |
|
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:91547 |
| Giant Cell Arteritis |
|
Depression, Alopecia, Anorexia, Weight loss |
ORPHA:397 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Thrombocytopeni... |
OMIM:557000 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Thrombocytopenia |
OMIM:613987 |
| Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alopecia totalis,... |
ORPHA:158687 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia |
OMIM:613989 |
| Incontinentia Pigmenti |
|
Alopecia, Abnormal fingernail morphology, Short stature, Supernumerary nipple, Abnormal hair morp... |
ORPHA:464 |
| Methylmalonic Aciduria, Cblb Type |
|
Pancytopenia, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia |
OMIM:251110 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Splenomegaly, Thrombocytopenia |
OMIM:619463 |
| Mirage Syndrome |
|
Hypoglycemia, Anemia, Leukopenia, Decreased body weight, Hypoplastic spleen, Lymphopenia, Thrombo... |
OMIM:617053 |
| Leigh Syndrome |
|
Alopecia, Growth delay, Dysphagia, Intrauterine growth retardation, Frontal hirsutism, Failure to... |
ORPHA:506 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial nail infection |
OMIM:158310 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia |
OMIM:618282 |
| Letterer-Siwe Disease |
|
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly |
OMIM:246400 |
| Bartsocas-Papas Syndrome |
|
Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye... |
ORPHA:1234 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Failure to thrive, Inguinal hernia, Intermittent thrombocytopenia, Erythroid hypoplasia, Thromboc... |
OMIM:612541 |
| Griscelli Syndrome |
|
Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils |
ORPHA:381 |
| Cholesteryl Ester Storage Disease |
|
Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Leukop... |
OMIM:278000 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Growth delay, Alopecia, Short stature |
OMIM:163200 |
| Pediatric-Onset Graves Disease |
|
Tremor, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Failure to thrive, Th... |
ORPHA:525731 |
| Prolidase Deficiency |
|
Splenomegaly, Thrombocytopenia, Failure to thrive, Anemia |
OMIM:170100 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:259700 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612924 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Abnormal fingernail morphology |
ORPHA:3453 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Tremor, Thrombocytopenia, Athetosis, Limb dystonia, Neonatal hypoglycemia |
ORPHA:572798 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Flexion contracture |
OMIM:609541 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Splenomegaly, Hypocalcification of dental enamel, Thrombocytopenia, Amelogenesi... |
ORPHA:169090 |
| Macrophage Activation Syndrome |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... |
ORPHA:158061 |
| Hemochromatosis, Type 1 |
|
Alopecia |
OMIM:235200 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Small for gestational age, Megaloblastic anemia, Anemia, Neutropenia, Failure to th... |
OMIM:277380 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Neutropenia, Ly... |
ORPHA:508542 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612926 |
| Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia |
OMIM:614074 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Thrombocytopenia, Abnormal... |
ORPHA:79124 |
| Alstrom Syndrome |
|
Truncal obesity, Alopecia, Short stature |
OMIM:203800 |
| Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:277480 |
| Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Depression, Emotional lability, Abnormality of the nail |
ORPHA:428 |
| Immunodeficiency 7 |
|
Failure to thrive, Patchy alopecia |
OMIM:615387 |
| Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230800 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Inguinal hernia, Thrombocytopenia |
ORPHA:96181 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:292 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Normochromic anemia, Intention tremor, Thrombocytopenia, Action tremor |
OMIM:254900 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Multiple joint contractures |
ORPHA:320406 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Short stature |
ORPHA:93160 |
| Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Small for gestational age, Abnormal T cell morphology, Anemia, Neutropenia, Lymphop... |
OMIM:242900 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Persistence of hemoglobin F, Ane... |
OMIM:260400 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic h |
