Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia, Hyperpigmented streaks |
OMIM:614323 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Eosinophilia, Familial |
|
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia |
OMIM:131400 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Neutropenia, Partial albinism |
ORPHA:90023 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Histiocytosis, Leukemia, Spotty hyperpigmentation |
ORPHA:157991 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Macrosomia Adiposa Congenita |
|
Eosinophilia |
OMIM:248100 |
Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft |
OMIM:609227 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... |
OMIM:214450 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Halothane Hepatitis |
|
Eosinophilia |
OMIM:234350 |
Griscelli Syndrome, Type 2 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Hepatosplenomegaly, Sil... |
OMIM:607624 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
Peeling Skin Syndrome 1 |
|
Onycholysis, Nail dystrophy, Eosinophilia, Brittle hair |
OMIM:270300 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreas... |
ORPHA:169154 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Patchy alopecia, Vitiligo, Neutropenia, Splenomegaly |
OMIM:615387 |
Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Thin eyebrow, Abnormally low T cell receptor excision circle level, Eosinophilia |
OMIM:618092 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Increased... |
OMIM:601859 |
Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... |
ORPHA:42665 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... |
OMIM:226990 |
Immunodeficiency 49 |
|
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... |
OMIM:617237 |
Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Curly hair, Trichorrhexis nodosa, Lymphocytosis, Sparse pubic hair, Hypoplas... |
OMIM:258360 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Cinca Syndrome |
|
Leukocytosis, Anemia, Eosinophilia, Hepatosplenomegaly |
OMIM:607115 |
Omenn Syndrome |
|
Alopecia, Anemia, Aplasia/Hypoplasia of the eyebrow, Leukocytosis, Eosinophilia, Splenomegaly, Ab... |
ORPHA:39041 |
Hidrotic Ectodermal Dysplasia |
|
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... |
ORPHA:189 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Anemia, Steatorrhea, Eosinophilia |
ORPHA:2070 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... |
ORPHA:486 |
Netherton Syndrome |
|
Hypereosinophilia, Sparse eyebrow, Sparse scalp hair, Brittle hair, Brittle scalp hair |
OMIM:256500 |
Omenn Syndrome |
|
Alopecia, Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Eosinoph... |
OMIM:603554 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Monocyt... |
OMIM:614470 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... |
OMIM:603909 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eosinophilia |
OMIM:618523 |
Uncombable Hair Syndrome |
|
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology |
ORPHA:1410 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Cutaneous abscess, Eosinophilia |
OMIM:147060 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Iris hypopigmentation, Pancytopenia, Hypopigmentation of hair, Hemopha... |
ORPHA:79477 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... |
OMIM:619947 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia |
OMIM:610163 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lymphopenia, Autoi... |
ORPHA:331206 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count |
OMIM:618394 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Alopecia of... |
OMIM:602450 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Eosinophilia, Th... |
OMIM:304790 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly |
ORPHA:169160 |
Woolly Hair |
|
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... |
ORPHA:170 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
Roifman Syndrome |
|
Hyperconvex nail, Prominent eyelashes, Eosinophilia, Hepatosplenomegaly |
ORPHA:353298 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Alopecia, Sterile abscess, Cutaneous abscess, Eosinophilia |
OMIM:618282 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism |
ORPHA:79478 |
Dilution, Pigmentary |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:126070 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis, Generalized hirsutism |
ORPHA:79087 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Incontinentia Pigmenti |
|
Atrophic, patchy alopecia, Alopecia, Abnormality of skin pigmentation, Coarse hair, Breast aplasi... |
OMIM:308300 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Roifman Syndrome |
|
Prominent eyelashes, Splenomegaly, Eosinophilia |
OMIM:616651 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Heterochromia iridis, Premature graying of hair |
OMIM:600193 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Reduced natural killer cell count, Eosinophilia, Decreased proportion of CD4-positive helper T cells |
OMIM:243700 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Hepatos... |
ORPHA:911 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly |
OMIM:618963 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
Hereditary Folate Malabsorption |
|
Thrombocytopenia, Megaloblastic anemia, Pancytopenia, Eosinophilia |
ORPHA:90045 |
Pgm3-Cdg |
|
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... |
ORPHA:443811 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Chronic monilial nail infection, Nail dysplasia, Eosinophilia, Coarse hair, Sparse hair... |
OMIM:158310 |
Hypotrichosis 8 |
|
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... |
OMIM:278150 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal fingernail morphology, Abnormal eosinophil morphology |
ORPHA:1164 |
Ermine Phenotype |
|
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo |
OMIM:227010 |
Waardenburg Syndrome, Type 4B |
|
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:613265 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Abnormal hair morphology, Dystrophic fingernails, Paronychia, Eosinophilia |
ORPHA:2314 |
Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... |
OMIM:193510 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Bone marrow hypocellularity, Leukocytosis |
ORPHA:98827 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... |
OMIM:203200 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 |
|
Myeloid leukemia, Premature graying of hair, Pancytopenia, Bone marrow hypocellularity, Aplastic ... |
OMIM:614743 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly |
OMIM:617388 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect |
OMIM:619165 |
Waardenburg Syndrome Type 2 |
|
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... |
ORPHA:895 |
Hermansky-Pudlak Syndrome 3 |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules |
OMIM:614072 |
Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphocytosis, Eosinophilia |
ORPHA:139402 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Premature graying of hair, Abnormally low T cell receptor excision circle level, Pancytopenia, Ly... |
OMIM:619767 |
Immunodeficiency 23 |
|
Hemolytic anemia, Lymphopenia, Eosinophilia, Neutropenia, Abscess |
OMIM:615816 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... |
OMIM:608203 |
Loeffler Endocarditis |
|
Eosinophilia |
ORPHA:75566 |
Iga Pemphigus |
|
Cutaneous abscess, Eosinophilia |
ORPHA:555905 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Autoimmune... |
OMIM:102700 |
Incontinentia Pigmenti |
|
Alopecia, Dystrophic toenail, Irregular hyperpigmentation, Abnormality of skin pigmentation, Supe... |
ORPHA:464 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... |
ORPHA:33445 |
Aspergillosis |
|
Neutropenia, Eosinophilia |
ORPHA:1163 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... |
ORPHA:79414 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased B cell count, Abnormal proportion of CD8-positive T cells, Coombs-positive hemolytic an... |
ORPHA:3261 |
Igg4-Related Aortitis |
|
Hypereosinophilia |
ORPHA:449400 |
Immunodeficiency 14B, Autosomal Recessive |
|
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis |
OMIM:619281 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia |
OMIM:617425 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... |
OMIM:256710 |
Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment... |
ORPHA:2885 |
Cyclic Neutropenia |
|
Perianal abscess, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, ... |
ORPHA:2686 |
Oculocutaneous Albinism Type 3 |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... |
ORPHA:79433 |
Griscelli Syndrome Type 1 |
|
Premature graying of hair, Iris hypopigmentation, White hair, Hyperlipidemia, Partial albinism |
ORPHA:79476 |
Griscelli Syndrome |
|
Leukopenia, Abnormal eyebrow morphology, Premature graying of hair, Iris hypopigmentation, Abnorm... |
ORPHA:381 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Premature graying of hair, Synophrys, White eyelashes, White eyebrow... |
ORPHA:897 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Macrocytic anemia, Eosinophilia, Vitiligo |
ORPHA:199299 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Aplastic anemia, Neutropenia, Sp... |
OMIM:308240 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Bone marrow h... |
ORPHA:86843 |
Cystic Echinococcosis |
|
Peritoneal abscess, Abscess, Splenic cyst, Eosinophilia |
ORPHA:400 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Premature graying of hair, Multiple cafe-au-lait spots, Lymphopenia |
ORPHA:100 |
Acute Monoblastic/Monocytic Leukemia |
|
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia |
ORPHA:514 |
Hoyeraal-Hreidarsson Syndrome |
|
Anemia, Sparse scalp hair, Premature graying of hair, Generalized hypopigmentation of hair, Gener... |
ORPHA:3322 |
Waardenburg Syndrome, Type 4A |
|
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:277580 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Eosinophilia, Hypopigmented skin patches |
ORPHA:183 |
Chediak-Higashi Syndrome |
|
Leukopenia, Anemia, Hypopigmentation of the skin, Giant melanosomes in melanocytes, Ocular albini... |
OMIM:214500 |
Immunodeficiency 92 |
|
B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Thromboc... |
OMIM:619652 |
Waardenburg Syndrome Type 1 |
|
Premature graying of hair, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches,... |
ORPHA:894 |
Angiostrongyliasis |
|
Hypereosinophilia |
ORPHA:74 |
Scleroderma |
|
Hypereosinophilia, Alopecia, Irregular hyperpigmentation, Spotty hypopigmentation |
ORPHA:801 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Premature graying of hair, Pancytopenia, White forelock, Nail dysplasia, Thrombocytop... |
OMIM:613989 |
Piebaldism |
|
Piebaldism, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock... |
ORPHA:2884 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... |
OMIM:301000 |
Immunodeficiency 89 And Autoimmunity |
|
Hypochromic microcytic anemia, Decreased eosinophil count |
OMIM:619632 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hypereosinophilia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Lymphopenia, ... |
ORPHA:508533 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... |
ORPHA:232 |
Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... |
ORPHA:79435 |
Alveolar Echinococcosis |
|
Anemia, Liver abscess, Abnormal spleen morphology, Cutaneous abscess, Eosinophilia |
ORPHA:284 |
Idiopathic Hypereosinophilic Syndrome |
|
Anemia, Neutrophilia, Hepatosplenomegaly, Thrombocytosis, Eosinophilia, Myeloproliferative disord... |
ORPHA:3260 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Premature graying of hair, Hypopigmented skin pat... |
ORPHA:3437 |
Oculocutaneous Albinism |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... |
ORPHA:55 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:177910 |
Diffuse Cutaneous Mastocytosis |
|
Lymphocytosis, Abnormality of the spleen, Mixed hypo- and hyperpigmentation of the skin, Myelopro... |
ORPHA:79456 |
Psoriasis 14, Pustular |
|
Neutrophilia, Nail dystrophy, Leukocytosis |
OMIM:614204 |
Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... |
ORPHA:79432 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anisocytosis, ... |
OMIM:300908 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... |
OMIM:172800 |
Acquired Hypertrichosis Lanuginosa |
|
Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Oculocutaneous Albinism Type 1 |
|
Generalized hypopigmentation, Generalized hypopigmentation of hair, Iris transillumination defect... |
ORPHA:352731 |
Thrombocytopenia-Absent Radius Syndrome |
|
Anemia, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:274000 |
Lymphatic Filariasis |
|
Hypereosinophilia, Hyperpigmentation of the skin |
ORPHA:2035 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot, Splenomegaly |
OMIM:618541 |
Igg4-Related Pachymeningitis |
|
Eosinophilia |
ORPHA:449427 |
Hermansky-Pudlak Syndrome 11 |
|
Melanocytic nevus, Iris transillumination defect, Ocular albinism, Albinism, Fair hair, Reduced p... |
OMIM:619172 |
X-Linked Lymphoproliferative Disease |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
ORPHA:2442 |
Chédiak-Higashi Syndrome |
|
Splenomegaly, Anemia, Hypopigmentation of the skin, Neutropenia, Iris hypopigmentation, Large clu... |
ORPHA:167 |
Coccidioidomycosis |
|
Granuloma, Abnormality of the spleen, Abscess, Eosinophilia |
ORPHA:228123 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:411515 |
Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... |
ORPHA:79434 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Sarcoidosis |
|
Leukopenia, Anemia, Alopecia, Hypopigmentation of the skin, Hemolytic anemia, Increased T cell co... |
ORPHA:797 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia |
ORPHA:449432 |
Cushing Disease |
|
Sparse scalp hair, Increased circulating cortisol level, Decreased eosinophil count, Lymphopenia,... |
ORPHA:96253 |
Squalene Synthase Deficiency |
|
Hypocholesterolemia, Abnormality of hair pigmentation |
OMIM:618156 |
Ermine Phenotype |
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Irregular hyperpigmentation, Ocular albinism, Iris hypopigmentation, Hypopigmented skin patches, ... |
ORPHA:999 |
Waardenburg Syndrome |
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Abnormal eyebrow morphology, Abnormality of skin pigmentation, Premature graying of hair, Synophr... |
ORPHA:3440 |
Acrodysostosis 2 With Or Without Hormone Resistance |
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Fair hair, Red hair, Blue irides |
OMIM:614613 |
Oculocutaneous Albinism Type 1A |
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Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... |
ORPHA:79431 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
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Hypopigmentation of hair |
ORPHA:70472 |
Albinism, Oculocutaneous, Type Ia |
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Ocular albinism, Albinism, Hypopigmentation of hair, White hair, Blue irides, Absent skin pigment... |
OMIM:203100 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis |
ORPHA:676 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Fine hair, Anemia, White hair, Lymphopenia |
ORPHA:935 |
Wolcott-Rallison Syndrome |
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Iron deficiency anemia, Lymphocytosis, Neutropenia |
ORPHA:1667 |
Syndromic Diarrhea |
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Splenomegaly, Hypoplasia of the thymus, Cafe-au-lait spot, Generalized hypopigmentation, Trichorr... |
ORPHA:84064 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Reduced natural killer cell count, Perianal abscess, Lymphocytosis, Thrombocytosis, Decreased pro... |
OMIM:301074 |
Carney Complex, Type 1 |
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Profuse pigmented skin lesions, Multiple lentigines, Freckling, Hirsutism, Red hair |
OMIM:160980 |
Wiskott-Aldrich Syndrome |
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Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal eosinophil morphology, Lymphopenia, ... |
ORPHA:906 |
Hermansky-Pudlak Syndrome 1 |
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Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... |
OMIM:203300 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia |
ORPHA:449563 |
Hermansky-Pudlak Syndrome |
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Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Iris hypopigmentation, Long eye... |
ORPHA:79430 |
Muenke Syndrome |
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Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches |
ORPHA:53271 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
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Iris hypopigmentation, Hypopigmented skin patches, Hypopigmentation of hair, Freckling, Multiple ... |
ORPHA:3214 |
Vici Syndrome |
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Leukopenia, Hypopigmentation of the skin, T lymphocytopenia, Ocular albinism, Albinism, Lymphopen... |
OMIM:242840 |
Classic Phenylketonuria |
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Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Red hair, Decreased circulating cortisol level |
OMIM:609734 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98795 |
Igg4-Related Kidney Disease |
|
Eosinophilia |
ORPHA:449395 |
Waardenburg Syndrome, Type 4C |
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Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:613266 |
Hypohidrotic Ectodermal Dysplasia |
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Irregular hyperpigmentation, Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodosa, Generalized... |
ORPHA:238468 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Eosinophilia |
ORPHA:75565 |
Angelman Syndrome Due To A Point Mutation |
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Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:411511 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume |
OMIM:617718 |
Viss Syndrome |
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Hypereosinophilia, Alopecia, Hirsutism, Sparse scalp hair |
OMIM:619472 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Sparse scalp hair, Increased circulating cortisol level, Decreased eosinophil count, Lymphopenia,... |
ORPHA:99889 |
Kikuchi-Fujimoto Disease |
|
Leukopenia, Anemia, Alopecia, Lymphocytosis, Thrombocytopenia, Neutropenia, Splenomegaly |
ORPHA:50918 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Premature graying of hair, Hypopigmented skin patches, Hypopigmentat... |
ORPHA:163746 |
Brittle Cornea Syndrome 1 |
|
Red hair |
OMIM:229200 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Anemia, Hypopigmentation of hair, Ocular albinism |
ORPHA:2719 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98794 |
Dermatomyositis |
|
Abnormal hair quantity, Abnormal eosinophil morphology, Abnormality of the nail |
ORPHA:221 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Abnormality of hair texture |
ORPHA:96169 |
Primary Sclerosing Cholangitis |
|
Histiocytosis, Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly |
ORPHA:171 |
Degcags Syndrome |
|
Leukopenia, Anemia, Abnormal eyebrow morphology, Hypopigmentation of the skin, Abnormality of ski... |
OMIM:619488 |
Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation |
ORPHA:90354 |
Prader-Willi Syndrome |
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Hypopigmentation of the skin, Generalized hypopigmentation, Frontal upsweep of hair, Iris hypopig... |
OMIM:176270 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398079 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Hypopigmentation of hair, Widow's peak, Dry hair, Coarse hair |
ORPHA:1974 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Stellate iris, Hyp... |
ORPHA:177907 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398069 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:177901 |
Prader-Willi-Like Syndrome |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:398073 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
Liver Disease, Severe Congenital |
|
Leukopenia, Anemia, Dry hair, Lymphocytosis, Nail dystrophy, Thrombocytopenia, Splenomegaly |
OMIM:619991 |
Menkes Disease |
|
Hypopigmentation of hair, Sparse hair, Woolly hair |
ORPHA:565 |
Cystinosis, Nephropathic |
|
Hypopigmentation of the skin, Splenomegaly, Retinal pigment epithelial mottling, Hypopigmentation... |
OMIM:219800 |
Smith-Lemli-Opitz Syndrome |
|
Hypopigmentation of hair, Abnormal eyelash morphology |
ORPHA:818 |
Acrodysostosis With Multiple Hormone Resistance |
|
Fair hair, Red hair, Blue irides |
ORPHA:280651 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Splenomegaly |
OMIM:608540 |
Alg1-Cdg |
|
|
ORPHA:79327 |