Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Premature Ovarian Failure 2B |
|
Primary amenorrhea, Premature ovarian insufficiency, Osteoporosis, Female infertility |
OMIM:300604 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility |
ORPHA:488191 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism, Neutropenia |
ORPHA:90023 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions |
OMIM:121820 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi... |
OMIM:607624 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Premature Ovarian Failure 13 |
|
Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Jaundice, L... |
ORPHA:79477 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias |
ORPHA:1355 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Reticulated skin pigmentation, Bone marrow hypocellularity, Nail dystrophy, Cirrhos... |
OMIM:613987 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal dystrophy, Corneal guttata |
OMIM:610158 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
Ataxia-Telangiectasia |
|
Lymphopenia, Hypopigmentation of hair, Diabetes mellitus, Polycystic ovaries, Premature graying o... |
ORPHA:100 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Abnormal fingernail morpho... |
ORPHA:75564 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co... |
ORPHA:79414 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Azoosperm... |
OMIM:235200 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Reticular hyperpigmentation, Hypogonadism, Nail dyst... |
OMIM:618165 |
Onychotrichodysplasia And Neutropenia |
|
Curly hair, Chronic neutropenia, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashe... |
OMIM:258360 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Hypopigment... |
ORPHA:177910 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Hepatomegaly, Abnormality of neutrophils, Abnormal eyelash morpholog... |
ORPHA:381 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... |
ORPHA:71526 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... |
ORPHA:54251 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Ovarian neoplasm, Lymphadenopat... |
ORPHA:2221 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Patc... |
OMIM:615387 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Hemochromatosis, Type 3 |
|
Hypogonadotropic hypogonadism, Hyperpigmentation of the skin, Impotence, Cirrhosis, Neutropenia, ... |
OMIM:604250 |
Obesity And Hypopigmentation |
|
Red hair, Hepatic steatosis, Hyperinsulinemia |
OMIM:620195 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Elevated circulating creatine kinase concentration, Female infer... |
OMIM:619518 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Pancytopenia, Aplastic anemia, Premature graying of hair, Bone marrow hypocellularity, Cirrhosis,... |
OMIM:614743 |
Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Sparse pub... |
OMIM:308750 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni... |
OMIM:614172 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Abnormal dense... |
OMIM:214500 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules, Albinism |
OMIM:614072 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... |
ORPHA:261529 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Cryptorchidism, Thrombocytopenia, Premature graying of hair, Nail dystrophy,... |
OMIM:620365 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Ovarian Dysgenesis 3 |
|
Primary amenorrhea, Female infertility |
OMIM:614324 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia |
OMIM:616738 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Aromatase Deficiency |
|
Osteopenia, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Femal... |
ORPHA:91 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopathy, A... |
ORPHA:39041 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells... |
ORPHA:169154 |
Sickle Cell Anemia |
|
Pigment gallstones, Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Diabetes mellitus, Hypospadias, Cryptorchidism, Blue irides, Congenital hypothyroidism, Red hair,... |
OMIM:614613 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Widow's peak, Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... |
OMIM:226990 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Cryptorchidism, Blue irides, Hypopigmented skin patches, Prematur... |
OMIM:613266 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Thrombocytopenia... |
ORPHA:3322 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Premature graying of hair, Leukopen... |
OMIM:613989 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity |
ORPHA:98827 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Cafe-au-lait spot, Hypopigmentation of the ... |
OMIM:618541 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility |
OMIM:617577 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy, Frontal balding |
OMIM:160900 |
Lig4 Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Pancytopenia, Cryptorchidism, Leukocytosis, Low anterior hairl... |
ORPHA:99812 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... |
ORPHA:3437 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular at... |
ORPHA:465508 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... |
OMIM:160980 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... |
ORPHA:231222 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Agra... |
OMIM:301078 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Pigmentary ret... |
OMIM:222300 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Premature adrenarche, Micropenis... |
ORPHA:398079 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal reproductive system morphology, Hypopigmentation of hair, Hepatic steatosis |
ORPHA:70472 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Nail dystrophy, Cholangitis |
OMIM:614204 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
Oculocutaneous Albinism Type 2 |
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Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Hermansky-Pudlak Syndrome 11 |
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Albinism, Ocular albinism, Melanocytic nevus, Reduced platelet dense granules, Iris transillumina... |
OMIM:619172 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
Squalene Synthase Deficiency |
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Bilateral cryptorchidism, Hypospadias, Abnormality of hair pigmentation |
OMIM:618156 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
Syndromic Diarrhea |
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Hepatomegaly, Hypopigmentation of hair, Brittle hair, Lymphopenia, Hepatoblastoma, Increased mean... |
ORPHA:84064 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... |
ORPHA:98754 |
Acute Monoblastic/Monocytic Leukemia |
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Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Central hypothyroidism, Lymphoc... |
ORPHA:514 |
Sickle Cell Disease |
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Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infarction, Target ... |
OMIM:603903 |
Acute Generalized Exanthematous Pustulosis |
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Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia, Hyperpigment... |
ORPHA:293173 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... |
ORPHA:98793 |
Adult-Onset Still Disease |
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Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Hepatitis, B... |
ORPHA:829 |
Oculocutaneous Albinism Type 1B |
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Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Hereditary Chronic Pancreatitis |
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Diabetes mellitus, Leukocytosis, Jaundice, Recurrent pancreatitis, Pancreatic calcification |
ORPHA:676 |
Chédiak-Higashi Syndrome |
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Abnormal leukocyte morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, Pan... |
ORPHA:167 |
Immunodeficiency 91 And Hyperinflammation |
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Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, T... |
OMIM:619644 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... |
ORPHA:177904 |
Incontinentia Pigmenti |
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Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Nail pits, Fine hair, Ab... |
OMIM:308300 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... |
ORPHA:177901 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea |
OMIM:110100 |
Dyskeratosis Congenita |
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Abnormality of neutrophils, White hair, Premature graying of hair, Sparse hair, Hepatomegaly, Alo... |
ORPHA:1775 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
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Splenomegaly, Leukocytosis |
OMIM:618042 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Aarskog-Scott Syndrome |
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Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Widow's... |
OMIM:305400 |
Prader-Willi Syndrome |
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Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:739 |
Ermine Phenotype |
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Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
Magel2-Related Prader-Willi-Like Syndrome |
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Hypothalamic luteinizing hormone-releasing hormone deficiency, Hypopigmentation of hair, Small sc... |
ORPHA:398069 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Hepatomegaly, Splenomegaly, Hypopigmented ... |
ORPHA:163746 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
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Testicular atrophy |
OMIM:601163 |
Oculocutaneous Albinism Type 1A |
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Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Relapsing Fever |
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Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:91547 |
Prader-Willi Syndrome |
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Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
OMIM:176270 |
Testicular Agenesis |
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Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
Albinism, Oculocutaneous, Type Ia |
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Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Primary Ciliary Dyskinesia |
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Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy |
OMIM:617099 |
Vici Syndrome |
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Lymphopenia, Hypopigmentation of hair, Albinism, Ocular albinism, Leukopenia, T lymphocytopenia, ... |
OMIM:242840 |
Hermansky-Pudlak Syndrome 1 |
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Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
Muenke Syndrome |
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Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
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Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... |
ORPHA:3214 |
Classic Phenylketonuria |
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Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Hermansky-Pudlak Syndrome |
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Hypopigmentation of hair, Menometrorrhagia, Partial albinism, Ocular albinism, Melanocytic nevus,... |
ORPHA:79430 |
Hypohidrotic Ectodermal Dysplasia |
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Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... |
ORPHA:238468 |
Cryptogenic Organizing Pneumonia |
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Leukocytosis, Neutrophilia |
ORPHA:1302 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Abnormality of the pancreas, White hair, Fine hair, Lymphopenia, Anemia |
ORPHA:935 |
Caroli Syndrome |
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Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,... |
ORPHA:480520 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Hypopigmentation of hair, Cryptorchidism, Ocular albinism, Anemia, Iris hypopigmentation |
ORPHA:2719 |
Staphylococcal Necrotizing Pneumonia |
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Neutrophilia, Diabetes mellitus, Leukocytosis, Leukopenia, Increased circulating procalcitonin co... |
ORPHA:36238 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
Familial Mediterranean Fever |
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Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis |
OMIM:249100 |
Pyomyositis |
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Recurrent cutaneous abscess formation, Leukocytosis, Testicular teratoma |
ORPHA:764 |
Koolen-De Vries Syndrome |
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Hypopigmentation of hair, Hypospadias, Abnormality of hair texture, Cryptorchidism, Hypothyroidism |
ORPHA:96169 |
Herpes Simplex Virus Encephalitis |
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Leukocytosis, Neutrophilia |
ORPHA:1930 |
Hyper-Igd Syndrome |
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Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:260920 |
Angelman Syndrome Due To A Point Mutation |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411511 |
Lesch-Nyhan Syndrome |
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Testicular atrophy, Megaloblastic anemia |
OMIM:300322 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
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Splenomegaly, Hepatomegaly, Neutrophilia, Abscess |
OMIM:612852 |
Degcags Syndrome |
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Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Premature graying of hair, Le... |
OMIM:619488 |
Brittle Cornea Syndrome 1 |
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Red hair |
OMIM:229200 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Premature Ovarian Failure 16 |
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Premature ovarian insufficiency, Reduced antral follicle count |
OMIM:618723 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98794 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Dry hair, Hypopigmentation of hair, Widow's peak, Coarse hair, Shawl scrotum |
ORPHA:1974 |
X-Linked Intellectual Disability, Snyder Type |
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Hypospadias, Sparse eyebrow, Cryptorchidism, Synophrys, Patchy hypo- and hyperpigmentation, Abnor... |
ORPHA:3063 |
Idiopathic Hypereosinophilic Syndrome |
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Neutrophilia, Generalized lymphadenopathy, Cholangitis, Eosinophilia, Thrombocytopenia, Leukocyto... |
ORPHA:3260 |
Sweet Syndrome |
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Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile a... |
ORPHA:3243 |
Prader-Willi Syndrome Due To Translocation |
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Hypopigmentation of hair, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased... |
ORPHA:177907 |
Pneumocystosis |
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Abnormal neutrophil count |
ORPHA:723 |
Cystinosis, Nephropathic |
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Male infertility, Hepatomegaly, Hypopigmentation of hair, Diabetes mellitus, Retinal pigment epit... |
OMIM:219800 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Osteopenia, Premature ovarian insufficiency, Female infertility, Osteoporosis, Secondary amenorrh... |
ORPHA:99413 |
Turner Syndrome |
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Osteopenia, Premature ovarian insufficiency, Female infertility, Osteoporosis, Secondary amenorrh... |
ORPHA:881 |
Mosaic Monosomy X |
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Osteopenia, Premature ovarian insufficiency, Female infertility, Osteoporosis, Secondary amenorrh... |
ORPHA:99228 |
Monosomy X |
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Osteopenia, Premature ovarian insufficiency, Female infertility, Osteoporosis, Secondary amenorrh... |
ORPHA:99226 |
Steinert Myotonic Dystrophy |
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Endometrial carcinoma, Alopecia, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased res... |
ORPHA:273 |
Crimean-Congo Hemorrhagic Fever |
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Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Orchitis, Thrombocytopenia, Leukocy... |
ORPHA:99827 |
Brittle Cornea Syndrome |
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Abnormality of hair pigmentation |
ORPHA:90354 |
46,Xx Gonadal Dysgenesis |
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Osteopenia, Streak ovary, Premature ovarian insufficiency, Decreased fertility, Secondary amenorr... |
ORPHA:243 |
Smith-Lemli-Opitz Syndrome |
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Hypoplasia of penis, Hypopigmentation of hair, Hypospadias, Abnormal eyelash morphology, Cryptorc... |
ORPHA:818 |
Menkes Disease |
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Sparse hair, Woolly hair, Hypopigmentation of hair, Prolonged neonatal jaundice |
ORPHA:565 |