Occipital Hair, White Lock Of |
|
White hair, Abnormal hair morphology |
OMIM:310900 |
Griscelli Syndrome, Type 3 |
|
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes |
OMIM:609227 |
Graying Of Hair, Precocious |
|
Premature graying of hair |
OMIM:139100 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia |
OMIM:233650 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... |
OMIM:615897 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... |
OMIM:247630 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia |
OMIM:183350 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... |
ORPHA:42665 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:214450 |
Reticular Dysgenesis |
|
Lack of T cell function, Leukopenia, Impaired T cell function, Congenital agranulocytosis, Hypopl... |
OMIM:267500 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia |
ORPHA:1410 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia |
OMIM:200900 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased specific pneumococcal antibody level, Dec... |
OMIM:615513 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
OMIM:126070 |
Waardenburg Syndrome, Type 2B |
|
Heterochromia iridis, White forelock, Premature graying of hair |
OMIM:600193 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Hidrotic Ectodermal Dysplasia |
|
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... |
ORPHA:189 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Woolly Hair |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... |
ORPHA:170 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... |
ORPHA:169079 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... |
OMIM:300400 |
Ermine Phenotype |
|
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow |
OMIM:227010 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... |
OMIM:312863 |
Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of hair, Albinism |
OMIM:606574 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... |
OMIM:614493 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:247800 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Hypotrichosis 8 |
|
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... |
OMIM:278150 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Blue irides, White eyelashes, Heterochromia iridis, White forelock, W... |
OMIM:613265 |
Griscelli Syndrome, Type 2 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:607624 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Reduced CD95-i... |
OMIM:607271 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
White Forelock With Malformations |
|
Poliosis, White forelock |
OMIM:277740 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Hypertrichosis, Insulin-resistant diabetes mellitus, Hypergly... |
OMIM:262190 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Lack of T cell function, Increased circulating IgE level, Lymphopenia, T lymph... |
ORPHA:277 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Increased circulating IgA level, Lymphadenopathy, Decreased lymphocyte proliferation... |
ORPHA:169154 |
Waardenburg Syndrome, Type 2A |
|
Partial albinism, Albinism, White eyelashes, Heterochromia iridis, White forelock, White eyebrow,... |
OMIM:193510 |
Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... |
OMIM:610163 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Increased circulating Ig... |
OMIM:617241 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus |
OMIM:610582 |
Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, White forelock, Heterochromia iridis, Hypopigmentation of hair, Prema... |
ORPHA:895 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Lymphadenopathy, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... |
OMIM:619510 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... |
ORPHA:79433 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Decreased lymphocyt... |
OMIM:600802 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypopigmentat... |
OMIM:203200 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Pancytopenia, Leukopenia, Partial absence of specific antibody re... |
OMIM:618986 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... |
ORPHA:99886 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Follicular hype... |
OMIM:601859 |
Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia |
OMIM:619164 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia |
OMIM:601457 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Reduced natural killer... |
OMIM:618108 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Red... |
OMIM:619374 |
Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Irregular hyperpig... |
ORPHA:2885 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Neutropenia in presence... |
OMIM:607594 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
Griscelli Syndrome Type 1 |
|
Partial albinism, Hyperlipidemia, White hair, Iris hypopigmentation, Premature graying of hair |
ORPHA:79476 |
Elejalde Disease |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:256710 |
Immunodeficiency 13 |
|
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... |
OMIM:615518 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Premature graying of hair, Generalized hy... |
ORPHA:33445 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles |
OMIM:601706 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... |
OMIM:611926 |
Waardenburg Syndrome, Type 4A |
|
Blue irides, Hypopigmented skin patches, White eyelashes, Heterochromia iridis, White forelock, W... |
OMIM:277580 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus |
OMIM:618858 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus, Pigmentary retinopathy |
OMIM:520000 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, White eyelashes, White forelock... |
ORPHA:897 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Hirsutism, Insulin-resistant diabetes mellitus, Hyperglycemia, Hypertriglyceri... |
OMIM:604367 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus |
OMIM:618856 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hypoglycemic seizures, Hyperinsulinemia, Hypopigmentation of the skin, Red hair |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypoglycemic seizures, Hyperinsulinemia, Hypopigmentation of the skin, Red hair |
ORPHA:71526 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia, Postprandial hyperglycemia, Glycosuria, Ketotic hypoglycemia |
ORPHA:2089 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hypoglycemic seizures, Red hair |
OMIM:609734 |
Piebaldism |
|
Hypopigmented skin patches, Piebaldism, White eyelashes, Heterochromia iridis, White forelock, Hy... |
ORPHA:2884 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Abnormality of interle... |
ORPHA:101096 |
Lipodystrophy, Familial Partial, Type 1 |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia |
OMIM:608600 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Brittle hair, Alopecia, Gluco... |
OMIM:608612 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of t... |
ORPHA:79435 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lack of T cell fun... |
ORPHA:35078 |
Piebald Trait |
|
Partial albinism, Piebaldism, Heterochromia iridis, White forelock, Absent pigmentation of the ve... |
OMIM:172800 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Vogt-Koyanagi-Harada Disease |
|
Hypopigmented skin patches, Poliosis, Vitiligo, Abnormal eyebrow morphology, Sparse scalp hair, A... |
ORPHA:3437 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-neu... |
ORPHA:572 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, Abnormal hair morphology, White hair, White eyelashes, Heterochromia ... |
ORPHA:894 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
Oculocutaneous Albinism |
|
Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, White hair, Generalized ... |
ORPHA:55 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Highly arched eyebrow, Hypoglycemia, Hirsutism, Low anterior hairline, Hyperglycemia |
OMIM:220111 |
Oculocerebral Syndrome With Hypopigmentation |
|
Hypopigmentation of the skin, Silver-gray hair |
OMIM:257800 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Sparse eyelashes, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sparse pubic hair, Onychogry... |
OMIM:601375 |
Griscelli Syndrome Type 2 |
|
Partial albinism, Hyperlipidemia, Iris hypopigmentation, Hypopigmentation of hair, Premature gray... |
ORPHA:79477 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
B lymphocytopenia, Decreased circulating IgA level, T lymphocytopenia, Lymphadenopathy, Decreased... |
OMIM:606367 |
Immunodeficiency 68 |
|
B lymphocytopenia, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
X-Linked Lymphoproliferative Disease |
|
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells,... |
ORPHA:2442 |
Ataxia-Telangiectasia |
|
Type II diabetes mellitus, Diabetes mellitus, Multiple cafe-au-lait spots, Hypopigmentation of ha... |
ORPHA:100 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:177910 |
Oculocutaneous Albinism Type 2 |
|
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hyperpigmented nevi, ... |
ORPHA:79432 |
Donohue Syndrome |
|
Fasting hypoglycemia, Hypertrichosis, Hyperglycemia, Hyperinsulinemia, Nail dysplasia, Postprandi... |
OMIM:246200 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Blue irides, Diabetes mellitus, Fair hair, Red hair |
OMIM:614613 |
Oculocutaneous Albinism Type 1 |
|
Blue irides, Generalized hypopigmentation, Iris transillumination defect, Generalized hypopigment... |
ORPHA:352731 |
Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Hypopigmentation of hair, Generalized hirsutism, Abnormal eyebrow morphology |
ORPHA:2221 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... |
ORPHA:443811 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Absence of lymph node germinal center, Anemia, Abnormal serum interferon-gamma level, Hepatosplen... |
ORPHA:79124 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Freckling, Albinism, Hypopigmentation of the skin, Melanocyt... |
ORPHA:79434 |
Ataxia-Telangiectasia |
|
Decreased circulating IgA level, Leukemia, Defective B cell differentiation, Decreased circulatin... |
OMIM:208900 |
Mody |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... |
ORPHA:552 |
Insulin-Resistance Syndrome Type B |
|
Fasting hypoglycemia, Hirsutism, Type II diabetes mellitus, Insulin resistance, Insulin-resistant... |
ORPHA:2298 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Alopecia, Impaired glucose to... |
OMIM:248370 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Reduced natural killer cell count, T lymphocytopenia, Increased ... |
OMIM:242860 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:411515 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia, Hirsutism |
OMIM:175700 |
Isolated Anencephaly |
|
Thymus hyperplasia |
ORPHA:563609 |
Ermine Phenotype |
|
Hypopigmented skin patches, Ocular albinism, Irregular hyperpigmentation, Iris hypopigmentation, ... |
ORPHA:999 |
Oculocutaneous Albinism Type 1A |
|
Ocular albinism, Freckling, Hypopigmentation of the skin, Albinism, Iris hypopigmentation, Hypopi... |
ORPHA:79431 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia, Increased circulating cortisol level |
OMIM:615954 |
Albinism, Oculocutaneous, Type Ia |
|
Blue irides, Absent skin pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of... |
OMIM:203100 |
Carney Complex, Type 1 |
|
Hirsutism, Freckling, Profuse pigmented skin lesions, Multiple lentigines, Red hair |
OMIM:160980 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia, Bone spicule pigmentation of the retina |
OMIM:615986 |
Waardenburg Syndrome |
|
Hypopigmented skin patches, Abnormality of skin pigmentation, Abnormal eyebrow morphology, Hetero... |
ORPHA:3440 |
Squalene Synthase Deficiency |
|
Hypocholesterolemia, Abnormality of hair pigmentation |
OMIM:618156 |
Rabson-Mendenhall Syndrome |
|
Fasting hypoglycemia, Hypertrichosis, Hirsutism, Low anterior hairline, Insulin resistance, Insul... |
ORPHA:769 |
Waardenburg Syndrome, Type 4C |
|
Blue irides, Hypopigmented skin patches, White eyelashes, White forelock, Heterochromia iridis, W... |
OMIM:613266 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hirsutism, Insulin-resistant diabetes mellitus, Hyperglycemia, Hypercholesterolemia, Hypertriglyc... |
OMIM:151660 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair |
ORPHA:70472 |
Muenke Syndrome |
|
Hypopigmented skin patches, Hypopigmentation of hair, Hypermelanotic macule |
ORPHA:53271 |
Fanconi-Bickel Syndrome |
|
Fasting hypoglycemia, Impaired glucose tolerance, Glycosuria, Diabetes mellitus, Hypertriglycerid... |
ORPHA:2088 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmented skin patches, Freckling, Hyperpigmentation of the skin, Iris hypopigmentation, Mult... |
ORPHA:3214 |
Short Syndrome |
|
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperglycemia |
OMIM:269880 |
Thymic Aplasia |
|
Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Lymphadenopathy, Decreas... |
ORPHA:83471 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia |
ORPHA:681 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hyperglycemia, Hyperpigmentation of the skin, Generalized bronze hyperpigmentation, Diabetes mell... |
ORPHA:465508 |
Proteus-Like Syndrome |
|
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly |
ORPHA:2969 |
Pancreatic And Cerebellar Agenesis |
|
Hyperglycemia, Hypoglycemia, Diabetes mellitus |
OMIM:609069 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:98795 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Hypercholesterolemia |
ORPHA:90065 |
Hypohidrotic Ectodermal Dysplasia |
|
Breast aplasia, Generalized hypopigmentation of hair, Trichorrhexis nodosa, Irregular hyperpigmen... |
ORPHA:238468 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:508533 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormality of serum cytokine level, Abnormality of interleukin secretion, Increased serum interf... |
ORPHA:542323 |
Atypical Werner Syndrome |
|
Abnormality of retinal pigmentation, Abnormal hair morphology, Type II diabetes mellitus, Insulin... |
ORPHA:79474 |
Hoyeraal-Hreidarsson Syndrome |
|
Generalized hyperpigmentation, Nail dystrophy, Generalized hypopigmentation of hair, Sparse scalp... |
ORPHA:3322 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:411511 |
Necrotizing Enterocolitis |
|
Hyperglycemia, Abnormal glucose homeostasis |
ORPHA:391673 |
Brittle Cornea Syndrome 1 |
|
Red hair |
OMIM:229200 |
Nijmegen Breakage Syndrome |
|
B lymphocytopenia, Dysgammaglobulinemia, Premature ovarian insufficiency, Thrombocytopenia, T lym... |
OMIM:251260 |
Chediak-Higashi Syndrome |
|
Silver-gray hair, Ocular albinism, Hypopigmentation of the skin, Iris hypopigmentation, Hypopigme... |
OMIM:214500 |
Prader-Willi Syndrome |
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Type II diabetes mellitus, Hypopigmentation of the skin, Hyperinsulinemia, Iris hypopigmentation,... |
OMIM:176270 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:98794 |
Beta-Ketothiolase Deficiency |
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Hyperglycemia, Hypoglycemia |
ORPHA:134 |
Isolated Sedoheptulokinase Deficiency |
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Postprandial hyperglycemia, Steatorrhea |
ORPHA:440713 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
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Thymus hyperplasia |
OMIM:619036 |
Infection-Related Hemolytic Uremic Syndrome |
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Brain abscess, Leukocytosis, Increased circulating interleukin 6, Abnormality of chemokine secret... |
ORPHA:544482 |
Leprechaunism |
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Fasting hypoglycemia, Hypertrichosis, Insulin resistance, Facial hypertrichosis, Recurrent infant... |
ORPHA:508 |
Mitchell-Riley Syndrome |
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Hyperglycemia |
OMIM:615710 |
Hermansky-Pudlak Syndrome |
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Partial albinism, Ocular albinism, Long eyelashes, Hypopigmentation of the skin, Melanocytic nevu... |
ORPHA:79430 |
Koolen-De Vries Syndrome |
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Hypopigmentation of hair, Abnormality of hair texture |
ORPHA:96169 |
Sim1-Related Prader-Willi-Like Syndrome |
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Hypopigmentation of hair, Type II diabetes mellitus, Hypopigmentation of the skin |
ORPHA:398079 |
Immunodeficiency 82 With Systemic Inflammation |
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B lymphocytopenia, Decreased proportion of naive T cells, Decreased circulating total IgA, Decrea... |
OMIM:619381 |
Vici Syndrome |
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Albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Ocular albinism |
OMIM:242840 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
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T lymphocytopenia, Neoplasm of the pancreas, Microcytic anemia, Premature ovarian insufficiency |
ORPHA:2959 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Neutropenia, Lymphadenopathy, Autoimmune thrombocytopenia, Lymphopenia, T lymphocytopenia |
OMIM:607944 |
Syndromic Diarrhea |
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Brittle hair, Trichorrhexis nodosa, Uncombable hair, Woolly hair, Hypopigmentation of hair, Gener... |
ORPHA:84064 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Highly arched eyebrow, Hyperglycemia, Long eyelashes, Curly hair, Abnormal toenail morphology, Th... |
ORPHA:444077 |
Dend Syndrome |
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Hyperglycemia |
ORPHA:79134 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Hypopigmentation o... |
ORPHA:163746 |
Chédiak-Higashi Syndrome |
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Abnormality of retinal pigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Iris... |
ORPHA:167 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin, Diabetes mellitus |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin, Diabetes mellitus |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin, Diabetes mellitus |
ORPHA:177904 |
Magel2-Related Prader-Willi-Like Syndrome |
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Hypopigmentation of hair, Type II diabetes mellitus, Hypopigmentation of the skin |
ORPHA:398069 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin, Diabetes mellitus |
ORPHA:177901 |
Menkes Disease |
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Hypopigmentation of hair, Sparse hair, Hypoglycemia, Woolly hair |
ORPHA:565 |
Brittle Cornea Syndrome |
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Abnormality of hair pigmentation |
ORPHA:90354 |
Prader-Willi-Like Syndrome |
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Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin, Diabetes mellitus |
ORPHA:398073 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Hypopigmentation of hair, Iris hypopigmentation, Ocular albinism |
ORPHA:2719 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Hypopigmentation of hair, Widow's peak, Dry hair, Coarse hair |
ORPHA:1974 |
Prader-Willi Syndrome |
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Hypopigmentation of hair, Diabetes mellitus, Hypopigmentation of the skin |
ORPHA:739 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Glycosuria |
ORPHA:99885 |
Pyruvate Carboxylase Deficiency |
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Hyperglycemia, Hypoglycemia |
ORPHA:3008 |
Prader-Willi Syndrome Due To Translocation |
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Stellate iris, Hyperpigmentation of the skin, Hypopigmentation of the skin, Iris hypopigmentation... |
ORPHA:177907 |
Acrodysostosis With Multiple Hormone Resistance |
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Blue irides, Diabetes mellitus, Fair hair, Red hair |
ORPHA:280651 |
Cystinosis, Nephropathic |
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Retinal pigment epithelial mottling, Hypopigmentation of the skin, Glycosuria, Diabetes mellitus,... |
OMIM:219800 |
Degcags Syndrome |
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Hypertrichosis, Low anterior hairline, Abnormality of skin pigmentation, Long eyelashes, Abnormal... |
OMIM:619488 |
Immunodeficiency 58 |
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Decreased specific antibody response to vaccination, Recurrent cutaneous abscess formation, Decre... |
OMIM:618131 |
Proteus Syndrome |
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Ovarian neoplasm, Macroorchidism, Thymus hyperplasia, Splenomegaly, Enlarged polycystic ovaries, ... |
ORPHA:744 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Hyperglycemia, Hyperlipidemia |
ORPHA:293987 |
Scorpion Envenomation |
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Hyperglycemia, Glycosuria |
ORPHA:466677 |
Smith-Lemli-Opitz Syndrome |
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Hypopigmentation of hair, Abnormal eyelash morphology |
ORPHA:818 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Hyperglycemia, Diabetes mellitus, Glycosuria |
OMIM:600001 |
Thyrotoxic Periodic Paralysis |
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Postprandial hyperglycemia |
ORPHA:79102 |