| Graying Of Hair, Precocious |
|
Premature graying of hair |
OMIM:139100 |
| Occipital Hair, White Lock Of |
|
White hair, Abnormal hair morphology |
OMIM:310900 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Loose Anagen Hair Syndrome |
|
Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
| Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
| Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
| Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
| Tented Eyebrows |
|
Abnormal hair morphology |
OMIM:611426 |
| Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
| Book Syndrome |
|
Premature graying of hair |
OMIM:112300 |
| Griscelli Syndrome Type 3 |
|
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism |
ORPHA:79478 |
| Albinism, Oculocutaneous, Type Iii |
|
Albinism, Partial albinism, Red hair |
OMIM:203290 |
| Uncombable Hair Syndrome |
|
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair |
ORPHA:1410 |
| Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
| Pseudopili Annulati |
|
Abnormality of the scalp hair, Abnormality of hair texture |
OMIM:613241 |
| Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
| Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... |
ORPHA:42665 |
| Buschke-Ollendorff Syndrome |
|
Flexion contracture, Joint stiffness, Osteopoikilosis |
OMIM:166700 |
| Waardenburg Syndrome, Type 2B |
|
White forelock, Heterochromia iridis, Premature graying of hair |
OMIM:600193 |
| Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... |
OMIM:214450 |
| Dilution, Pigmentary |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:126070 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Hypotrichosis 13 |
|
Woolly hair, Sparse and thin eyebrow, Sparse hair |
OMIM:615896 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
| Hypotrichosis 14 |
|
Sparse body hair, Sparse hair |
OMIM:618275 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Endocardial fibrosis, Absence of lymph node germinal center, Abnormality of the liver |
OMIM:235550 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
| Alopecia-Mental Retardation Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Alopecia-Mental Retardation Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia-Mental Retardation Syndrome 1 |
|
Alopecia universalis |
OMIM:203650 |
| Alopecia Totalis |
|
Alopecia of scalp, Alopecia |
ORPHA:700 |
| Osteomalacia, Sclerosing, With Cerebral Calcification |
|
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density |
OMIM:259660 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Alopecia Universalis Congenita |
|
Alopecia universalis, Alopecia |
OMIM:203655 |
| Ermine Phenotype |
|
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation |
OMIM:227010 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin |
OMIM:606952 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Premature graying of hair |
OMIM:190200 |
| Immunodeficiency, Common Variable, 6 |
|
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... |
OMIM:613496 |
| Hyperostosis Corticalis Generalisata |
|
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology |
ORPHA:3416 |
| Woolly Hair |
|
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... |
ORPHA:170 |
| Nephronophthisis 16 |
|
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Cholestasis, Hepatic fibrosis, Pulmoni... |
OMIM:615382 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Osteopoikilosis, Increased bone mineral density |
ORPHA:1562 |
| Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Albinism, Blue irides |
OMIM:606574 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged kidney, Hirsutism, Insulin-resistant ... |
ORPHA:90301 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
White forelock, Macular hyperpigmented dermopathy |
ORPHA:2779 |
| Van Buchem Disease |
|
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density |
OMIM:239100 |
| Uncombable Hair Syndrome 3 |
|
Pili canaliculi, Curly hair, Uncombable hair |
OMIM:617252 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
| Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
| Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... |
ORPHA:2790 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Enlarged kidney, Cystic renal dysplasia, Cholestasis,... |
OMIM:615415 |
| Hypotrichosis 8 |
|
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... |
OMIM:278150 |
| Apolipoprotein A-I Deficiency |
|
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly |
ORPHA:425 |
| Immunodeficiency 32A |
|
Lymphadenopathy |
OMIM:614893 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density |
OMIM:241520 |
| Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
| Reticuloendotheliosis, X-Linked |
|
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy |
OMIM:312500 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... |
ORPHA:93109 |
| Waardenburg Syndrome, Type 4B |
|
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... |
OMIM:613265 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Cirrhosis, Atrial septal defect, Enlarged kidney, Pancreatic cysts, Polysplenia, Hepatic cysts, B... |
OMIM:208540 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
| Aa Amyloidosis |
|
Acute kidney injury, Renal amyloidosis, Abnormal heart morphology, Enlarged kidney, Hypothyroidis... |
ORPHA:85445 |
| Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis |
ORPHA:564003 |
| Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
| Flynn-Aird Syndrome |
|
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... |
OMIM:136300 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibr... |
OMIM:263200 |
| Melorheostosis |
|
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... |
ORPHA:2485 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:3152 |
| Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia |
ORPHA:60026 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
| Griscelli Syndrome, Type 2 |
|
Hemophagocytosis, Melanin pigment aggregation in hair shafts, Silver-gray hair, Accumulation of m... |
OMIM:607624 |
| Woolly Hair, Autosomal Recessive 3 |
|
Sparse hair, Curly hair, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Sparse eyelashes |
OMIM:616760 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
| White Forelock With Malformations |
|
Poliosis, White forelock |
OMIM:277740 |
| Gombo Syndrome |
|
Microphthalmia, Abnormal heart morphology |
OMIM:233270 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones |
OMIM:607634 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hepatomegaly, Splenomegaly, Lymp... |
OMIM:618495 |
| Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
| Distal Osteosclerosis |
|
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis |
OMIM:126250 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly |
OMIM:608971 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density |
OMIM:166740 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Waardenburg Syndrome, Type 2A |
|
Albinism, Heterochromia iridis, Premature graying of hair, White eyebrow, Synophrys, White eyelas... |
OMIM:193510 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Short nose, Generalized hyperpigmentation, Hypospadias, Anteverted nares |
ORPHA:1355 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Adrenogenital syndrome, Congenital adrenal hyperplasia, Renal salt wasting |
OMIM:201710 |
| Dysplastic Cortical Hyperostosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2204 |
| Crandall Syndrome |
|
Abnormal testis morphology, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse bod... |
ORPHA:202 |
| Uncombable Hair Syndrome 1 |
|
Pili canaliculi, Uncombable hair, Dry hair |
OMIM:191480 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Enlarged kidney, Hydronephrosis, Atrioventricular canal defect, Hydrocephalus, ... |
OMIM:314390 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly |
OMIM:206400 |
| Woolly Hair, Autosomal Dominant |
|
Dry hair, Abnormal hair morphology, Coarse hair, Slow-growing hair, Woolly hair |
OMIM:194300 |
| Isolated Osteopoikilosis |
|
Generalized osteosclerosis |
ORPHA:166119 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... |
OMIM:144750 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Renal salt wasting, Hypoglycemia, Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
| Immunodeficiency 75 |
|
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... |
OMIM:619126 |
| Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin |
OMIM:619165 |
| Lessel-Kubisch Syndrome |
|
Premature graying of hair, Renal hypoplasia, Sparse pubic hair, Renal insufficiency, Hypogonadism |
OMIM:618681 |
| Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... |
ORPHA:444463 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... |
ORPHA:52901 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Fractures of ... |
OMIM:166600 |
| H Syndrome |
|
Abnormal eyebrow morphology, Azoospermia, Microcytic anemia, Enlarged kidney, Amenorrhea, Histioc... |
ORPHA:168569 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Low anterior hairline, Enlarged kidney, Focal segmental glomerulosclerosis, Macrovesicular hepati... |
OMIM:617303 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Papillary renal cell carcinoma, Re... |
ORPHA:97290 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Pituitary growth hormone cell adenoma, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, R... |
ORPHA:730 |
| Beckwith-Wiedemann Syndrome |
|
Cryptorchidism, Neonatal hypoglycemia, Renal cortical cysts, Enlarged kidney, Gonadoblastoma, Car... |
OMIM:130650 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Cortical sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis |
OMIM:122860 |
| Oculocutaneous Albinism Type 3 |
|
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... |
ORPHA:79433 |
| Endocrine-Cerebroosteodysplasia |
|
Cryptorchidism, Ambiguous genitalia, Microphallus, Adrenal hypoplasia, Enlarged kidney, Sex rever... |
OMIM:612651 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis |
OMIM:615198 |
| Piebald Trait With Neurologic Defects |
|
Absent pigmentation of the ventral chest, White forelock |
OMIM:172850 |
| Intermediate Osteopetrosis |
|
Cortical sclerosis, Recurrent fractures, Generalized osteosclerosis, Osteosclerosis of the base o... |
ORPHA:210110 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi... |
ORPHA:895 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Ascites, Anemia, Splenomegaly, Premature ovarian insufficiency, Lymphadenopathy |
ORPHA:100025 |
| Congenital Toxoplasmosis |
|
Thrombocytopenia, Jaundice, Hepatomegaly, Microphthalmia, Anemia, Cardiomegaly, Ascites, Lymphade... |
ORPHA:858 |
| Isolated Splenogonadal Fusion |
|
Hydrocele testis, Abnormality of the scrotum, Abnormal penis morphology, Polysplenia, Bilateral c... |
ORPHA:457083 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Cirrhosis, Thrombocytopenia, Pancytopenia, Testicular atrophy, Nail dysplasia, Reticulated skin p... |
OMIM:613987 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly, Myeloproliferative ... |
OMIM:607685 |
| Mu-Heavy Chain Disease |
|
Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Anemia, Splenomegaly, ... |
ORPHA:100024 |
| Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Hydrocephalus |
OMIM:209970 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615938 |
| Kaposiform Lymphangiomatosis |
|
Multiple renal cysts, Enlarged kidney, Pancreatic cysts, Pericardial effusion, Abnormal lymphatic... |
ORPHA:464329 |
| Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
| Nephronophthisis 2 |
|
Nephronophthisis, Enlarged kidney, Absence of renal corticomedullary differentiation, Stage 5 chr... |
OMIM:602088 |
| Immunodeficiency 48 |
|
Hepatomegaly, Splenomegaly |
OMIM:269840 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long-chain dicarboxylic aciduria, Elevated hepatic transaminase, Enlarged kidney, Ventriculomegal... |
OMIM:608836 |
| 1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Tetralogy of Fallot, Hydrocephalus, Hypospadias |
ORPHA:250994 |
| Alexander Disease |
|
Increased CSF protein, Hydrocephalus |
OMIM:203450 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:618852 |
| Androgen Insensitivity Syndrome |
|
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... |
ORPHA:754 |
| Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... |
OMIM:203200 |
| Tyrosinemia, Type I |
|
Cirrhosis, Elevated hepatic transaminase, Enlarged kidney, Renal Fanconi syndrome, Hepatocellular... |
OMIM:276700 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Papillary thyroid carcinoma, Goiter, Chronic noninfectious lymphadenopathy, Papillary renal cell ... |
ORPHA:319487 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Nephronophthisis, Glucose intolerance, Ventricular septal defect, Ventriculomegaly, Impaired gluc... |
OMIM:615630 |
| Axial Osteomalacia |
|
Osteomalacia, Increased bone mineral density |
OMIM:109130 |
| Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Albinism, Patchy hypo- and hyperpigmentation |
OMIM:300700 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmentation of hair, Abnormal eyebrow morphology, Irregular hyperpigmentation, Heterochromia... |
ORPHA:2885 |
| Nephronophthisis 18 |
|
Nephronophthisis, Thickened glomerular basement membrane, Cholestasis, Renal tubular atrophy, Tub... |
OMIM:615862 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
| Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
| Pycnodysostosis |
|
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density |
OMIM:265800 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Microphthalmia |
ORPHA:2432 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Dilated cardiomyopathy, Lymphadenopathy |
OMIM:615895 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Ovarian Dysgenesis 2 |
|
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hirsutism, Hypopla... |
OMIM:300510 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:86893 |
| Hemochromatosis, Type 1 |
|
Cirrhosis, Azoospermia, Glucose intolerance, Hepatocellular carcinoma, Hepatomegaly, Testicular a... |
OMIM:235200 |
| Congenital Rubella Syndrome |
|
Atrial septal defect, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Thrombocytopenia... |
ORPHA:290 |
| Pineocytoma |
|
Increased CSF protein, Hydrocephalus |
ORPHA:251912 |
| Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615937 |
| Burkitt Lymphoma |
|
Abnormality of the ovary, Decreased proportion of CD4-positive helper T cells, Abnormality of the... |
ORPHA:543 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Female external genita... |
ORPHA:90791 |
| Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Ventricular septal defect, Hypoplastic left atrium, Bicornuate uterus, Microphtha... |
OMIM:615524 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... |
OMIM:615559 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, White forelock |
OMIM:601706 |
| Elejalde Disease |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... |
OMIM:256710 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin |
ORPHA:2786 |
| Lcat Deficiency |
|
Hemolytic anemia, Hematuria, Hepatomegaly, Splenomegaly, Renal insufficiency, Lymphadenopathy, Pr... |
ORPHA:650 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Matthew-Wood Syndrome |
|
Cryptorchidism, Abnormality of the uterus, Horseshoe kidney, Renal hypoplasia, Abnormal spleen mo... |
ORPHA:2470 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hepatomegaly, Hydrocephalus |
OMIM:300884 |
| Granulomatous Slack Skin |
|
Acute kidney injury, Nephrocalcinosis, Abnormality of the lymph nodes |
ORPHA:33111 |
| Igg4-Related Kidney Disease |
|
Abnormality of mesentery morphology, Hematuria, Pericarditis, Acute kidney injury, Thyroiditis, U... |
ORPHA:449395 |
| Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Advanced tarsal ossification, Generalized osteosclerosis |
OMIM:215045 |
| Trimethylaminuria |
|
Trimethylaminuria, Neutropenia, Anemia, Splenomegaly |
OMIM:602079 |
| Paget Disease Of Bone 3 |
|
Osteolysis, Fractures of the long bones, Patchy osteosclerosis |
OMIM:167250 |
| Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia |
OMIM:248110 |
| Mounier-Kühn Syndrome |
|
Pneumonia, Recurrent bronchopulmonary infections, Tracheal stenosis, Bronchitis, Tracheobronchmeg... |
ORPHA:3347 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... |
OMIM:603552 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Enlarged kidney, Ovarian serous cystadenoma, Nephroblastoma, Abnormality of the... |
ORPHA:276280 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Wide anterior fontanel, Thin bony cortex, Increased bone mineral density |
ORPHA:85184 |
| Tyrosinemia Type 1 |
|
Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria, Splenomegaly |
ORPHA:882 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density |
OMIM:231095 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... |
ORPHA:90793 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Azoospermia, Hepatomegaly, Hypogonadism, Anemia, Splenomegaly, Decreased mean corpus... |
OMIM:615234 |
| Galactosemia Iii |
|
Aminoaciduria, Hepatomegaly, Jaundice, Galactosuria, Splenomegaly |
OMIM:230350 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Splenoportal Vascular Anomalies |
|
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Diabete... |
OMIM:271500 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
| Mmep Syndrome |
|
Cryptorchidism, Microphthalmia, Ventricular septal defect |
ORPHA:3434 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Amyloidosis, Familial Visceral |
|
Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Proteinuria |
OMIM:105200 |
| Sea-Blue Histiocyte Disease |
|
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
| Hemochromatosis, Type 2B |
|
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism, Cardiomyopathy |
OMIM:613313 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly |
OMIM:615947 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... |
OMIM:613673 |
| Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
| Waardenburg Syndrome, Type 4A |
|
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... |
OMIM:277580 |
| Piebald Trait |
|
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... |
OMIM:172800 |
| Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
| Osteogenesis Imperfecta, Type Xiii |
|
Osteoporosis, Joint hypermobility, Increased bone mineral density |
OMIM:614856 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:417 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Diabetes mellitus, Nephrolithiasis, Macronodular adrenal hyperplasia |
ORPHA:189427 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... |
OMIM:308750 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly |
ORPHA:231393 |
| Immunodeficiency 76 |
|
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy |
OMIM:619164 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
| Galactose Epimerase Deficiency |
|
Hepatomegaly, Jaundice, Aminoaciduria, Splenomegaly |
ORPHA:79238 |
| Biemond Syndrome Type 2 |
|
Delayed puberty, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Hydrocephalus |
ORPHA:141333 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... |
OMIM:308700 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism, Hydrocephalus |
OMIM:300886 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the kidney, Elevated hepatic transaminase, Abnormal testis morphology, Abnormality... |
ORPHA:54251 |
| Follicular Lymphoma |
|
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly |
ORPHA:545 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Splenomegaly |
OMIM:618541 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
| Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... |
OMIM:617514 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Hypogonadism, Cardiomyopathy, Splenomegaly |
OMIM:608540 |
| Hodgkin Lymphoma |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:98293 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... |
ORPHA:731 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... |
OMIM:133180 |
| Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Ventriculomegaly, CSF lymphocytic pleiocytosis, Hepatomegaly, Sple... |
OMIM:610333 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... |
OMIM:615285 |
| Buschke-Ollendorff Syndrome |
|
Craniosynostosis, Flexion contracture, Recurrent fractures, Generalized osteosclerosis, Osteopoik... |
ORPHA:1306 |
| Faciothoracogenital Syndrome |
|
Glandular hypospadias, Shawl scrotum, Microphthalmia, Prominent scrotal raphe |
OMIM:227320 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy, Pure red cell aplasia, Anemia |
OMIM:618165 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hepatomegaly |
OMIM:614480 |
| Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy |
OMIM:618261 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly, Anemia of inadequat... |
OMIM:237800 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancre... |
ORPHA:79084 |
| Immunodeficiency 14A, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... |
OMIM:615513 |
| Hyperaldosteronism, Familial, Type I |
|
Abnormality of the urinary system, Hyperaldosteronism, Decreased circulating renin level, Adrenal... |
OMIM:103900 |
| B4Galt1-Cdg |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Pigmented micronodular adrenocortical disease, Hypogonadism, Adrenal hyperplasia, Diabetes mellitus |
ORPHA:189439 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed patellar ossification, Abnormal bone ossification, Wide anterior fontanel, Increased bone... |
ORPHA:163649 |
| Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density |
ORPHA:37748 |
| Infantile Sialic Acid Storage Disease |
|
Vacuolated lymphocytes, Hepatomegaly, Nephrotic syndrome, Ascites, Cardiomegaly, Splenomegaly |
OMIM:269920 |
| Ritscher-Schinzel Syndrome 1 |
|
Atrial septal defect, Adrenal hypoplasia, Ventricular septal defect, Pulmonic stenosis, Aortic va... |
OMIM:220210 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... |
OMIM:619220 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
| X-Linked Sideroblastic Anemia |
|
Glucose intolerance, Anemia, Splenomegaly |
ORPHA:75563 |
| Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Cystic renal dysplasia, Polysplenia, Pancreatic fibrosis, Hepatic fibrosis, Hepa... |
OMIM:200995 |
| Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
| Carcinoma Of Esophagus |
|
Lymphadenopathy |
ORPHA:70482 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ventriculomegaly, Hydrocephalus |
OMIM:618709 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... |
OMIM:614470 |
| Otopalatodigital Syndrome Type 1 |
|
Synostosis of carpal bones, Limitation of joint mobility, Abnormal vertebral segmentation and fus... |
ORPHA:90650 |
| Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Enlarged kidney, Focal segmental glomerulosclerosis, Hepatocellula... |
OMIM:232200 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy |
OMIM:613101 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Ambiguous genitalia, Adrenal hyperplasia, Adrenogenital syndrome, Male pseudohermaphroditism |
OMIM:202110 |
| Neuroectodermal Melanolysosomal Disease |
|
Generalized hyperpigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Premature ... |
ORPHA:33445 |
| Congenital Fibrinogen Deficiency |
|
Splenic rupture, Hemorrhagic ovarian cyst, Right ventricular hypertrophy, Left ventricular hypert... |
ORPHA:335 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... |
OMIM:619375 |
| Albinism-Deafness Syndrome |
|
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... |
ORPHA:998 |
| Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm, Increased serum serotonin, Adreno... |
ORPHA:100083 |
| Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... |
OMIM:618534 |
| Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Iris hypopigmentation, Hypopigmentation of hair, Premature graying of hair, Neu... |
ORPHA:79477 |
| Diaphanospondylodysostosis |
|
Nephroblastomatosis, Nephrogenic rest, Cystic renal dysplasia, Enlarged kidney, Abnormal liver lo... |
OMIM:608022 |
| Diabetic Embryopathy |
|
Abnormal morphology of female internal genitalia, Cryptorchidism, Ventricular septal defect, Spin... |
ORPHA:1926 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Hepatic steatosis, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Diabetes m... |
OMIM:612526 |
| Diencephalic Syndrome |
|
Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Long penis |
ORPHA:1672 |
| Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Premature graying of hair, Abnormal testis morphology, Lymphopenia, Apl... |
ORPHA:100 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Endometrial carcinoma, Macroorchidism, Hyperactive renin-an... |
ORPHA:90790 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... |
OMIM:612840 |
| Combined Saposin Deficiency |
|
Hepatomegaly, Splenomegaly |
OMIM:611721 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Abnormality of the ureter, Hypospadias, Ascites, Anemia, Splenomegaly, Renal hypoplasia/aplasia, ... |
ORPHA:1046 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Ambiguous genitalia, Premature pubarche, Bifid scrotum, Male pseudohermaphroditism, Hypospadias, ... |
OMIM:201810 |
| Hemochromatosis, Type 2A |
|
Cirrhosis, Azoospermia, Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Hypog... |
OMIM:602390 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Ventriculomegaly, Anencephaly, Renal dysplasia, Renal cyst, Hydronephrosis, Decreased testicular ... |
OMIM:615287 |
| Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, Hypopigmentation of hair, White... |
ORPHA:897 |
| Neuraminidase Deficiency |
|
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly, Ascites, Splenomegaly... |
OMIM:256550 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Enlarged kidney, Focal segmental glomerulosclerosis, Hepatocellula... |
OMIM:232220 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD4:C... |
OMIM:300853 |
| Sabinas Brittle Hair Syndrome |
|
Sparse hair, Dry hair, Nail dysplasia, Brittle hair, Nail dystrophy |
OMIM:211390 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal morphology of female internal genitalia, Blind vagina, Absent pubic hair, Absent axillar... |
ORPHA:99429 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Hypopigmentation of hair, External genital hypoplasia, Hypogonadotropic hy... |
ORPHA:177910 |
| Sandhoff Disease |
|
Hepatomegaly, Splenomegaly |
ORPHA:796 |
| Chudley-Mccullough Syndrome |
|
Ventriculomegaly, Hydrocephalus |
OMIM:604213 |
| Immunodeficiency 72 With Autoinflammation |
|
Increased proportion of memory T cells, Hepatosplenomegaly, Lymphadenopathy, Increased B cell count |
OMIM:618982 |
| Hepatic Adenomas, Familial |
|
Hepatocellular adenoma, Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
| Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Atrial septal defect, Truncus arteriosus, Single ventricle, Renal malrotation, Ve... |
OMIM:601186 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... |
ORPHA:79303 |
| Edinburgh Malformation Syndrome |
|
Jaundice, Hydrocephalus |
OMIM:129850 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Enlarged kidney, Membranoproliferative glomerulonephritis, Delayed pub... |
ORPHA:251004 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice, Congenital... |
ORPHA:79302 |
| Beckwith-Wiedemann Syndrome |
|
Cryptorchidism, Pseudohypoparathyroidism, Hypercalciuria, Vesicoureteral reflux, Cardiomegaly, Ad... |
ORPHA:116 |
| Piebaldism |
|
Hypopigmentation of hair, Heterochromia iridis, White eyebrow, Synophrys, White eyelashes, White ... |
ORPHA:2884 |
| Oculocutaneous Albinism Type 4 |
|
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, W... |
ORPHA:79435 |
| Genitopalatocardiac Syndrome |
|
Cryptorchidism, Abnormality of mesentery morphology, Multicystic kidney dysplasia, Gonadal dysgen... |
ORPHA:2075 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Atrial septal defect, Enlarged kidney, Abnormal heart morphology, Proteinuria, Urinary glycosamin... |
ORPHA:505248 |
| Leprechaunism |
|
Fasting hypoglycemia, Long penis, Hyperinsulinemia, Insulin resistance, Enlarged ovaries, Recurre... |
ORPHA:508 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatic steatosis, Endocardial fibroelastosis, Impaired gluconeogenesis, Decreased carnitine leve... |
OMIM:212140 |
| Kimura Disease |
|
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
| T-Cell Receptor-Alpha/Beta Deficiency |
|
Hypereosinophilia, Lymphadenopathy |
OMIM:615387 |
| Nephronophthisis 19 |
|
Nephronophthisis, Cholestasis, Hepatic fibrosis, Hepatomegaly, Stage 5 chronic kidney disease, Sp... |
OMIM:616217 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Ventriculomegaly, Normal pressure hydrocephalus |
OMIM:611808 |
| Meckel Syndrome, Type 3 |
|
Malformation of the hepatic ductal plate, Multicystic kidney dysplasia, Hepatic fibrosis, Hepatom... |
OMIM:607361 |
| Vogt-Koyanagi-Harada Disease |
|
Vitiligo, Abnormal eyebrow morphology, Premature graying of hair, Abnormal eyelash morphology, Po... |
ORPHA:3437 |
| Band Heterotopia |
|
Ventriculomegaly, Hydrocephalus |
OMIM:600348 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Coproporphyria, Hereditary |
|
Hepatomegaly, Jaundice, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-a... |
OMIM:121300 |
| Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating renin, Hypercalciuria... |
ORPHA:251274 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Hypochromia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia, Sple... |
OMIM:616860 |
| Hurler-Scheie Syndrome |
|
Abnormal heart valve morphology, Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Cardiomy... |
ORPHA:93476 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... |
ORPHA:846 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, Hepatomegaly |
OMIM:607616 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Red hair, Decreased response to growth hormone stimuation test, Pituitary hypot... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Red hair, Decreased response to growth hormone stimuation test, Pituitary hypot... |
ORPHA:71526 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
| Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Histiocytosis, Anemia, Splenomegaly, Enlarged mesenteric lymph node... |
OMIM:209950 |
| Immunodeficiency 47 |
|
Cirrhosis, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jaundice, Leukopenia, Splenomegaly |
OMIM:300972 |
| Cushing Disease |
|
Nephrolithiasis, Diabetes mellitus, Adrenal hyperplasia, Premature ovarian insufficiency, Cardiom... |
ORPHA:96253 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos |
OMIM:613703 |
| Pfapa Syndrome |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:42642 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Hyperaldosteronism, Abnormal circulating reni... |
ORPHA:369929 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal hypoplasia, Red hair, Decreased response to growth hormone stimuation test, Cholestasis, ... |
OMIM:609734 |
| Acquired Hypertrichosis Lanuginosa |
|
Hypopigmentation of hair, Abnormal eyebrow morphology, Ovarian neoplasm, Generalized hirsutism, F... |
ORPHA:2221 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
| Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Short eyelashes, Sparse axillary hair, Absent eyebrow, Fair hair, Sparse scalp hair, Sparse pubic... |
OMIM:601375 |
| Temple Syndrome |
|
Cryptorchidism, Decreased testicular size, Hydrocephalus, Maturity-onset diabetes of the young |
OMIM:616222 |
| Indolent Systemic Mastocytosis |
|
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... |
ORPHA:98848 |
| Temple Syndrome |
|
Cryptorchidism, Hydrocephalus, Type II diabetes mellitus, Recurrent hypoglycemia, Precocious pube... |
ORPHA:254516 |
| Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly |
OMIM:618963 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hematuria, Polycystic ovaries, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Diab... |
OMIM:608709 |
| Craniofacial Dyssynostosis With Short Stature |
|
Cryptorchidism, Horseshoe kidney, Ventricular septal defect, Ventriculomegaly, Hypospadias, Hydro... |
OMIM:218350 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
| Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Abnormal heart morphology, Ventriculomegaly, Hypospadias, Hyperglycemia, Hydrocep... |
OMIM:175700 |
| Pallister-Hall-Like Syndrome |
|
Abnormal heart morphology, Anterior hypopituitarism, Renal dysplasia, Micropenis, Hydrocephalus |
OMIM:241800 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Increased circulating cortisol level, Abnormal calcium-phosphate regulating hormone level, Primar... |
ORPHA:3453 |
| Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
| Dysosteosclerosis |
|
Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Recurrent fractures, Increased b... |
ORPHA:1782 |
| Thymic Neuroendocrine Tumor |
|
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Chronic noninfectious lym... |
ORPHA:97289 |
| Classic Mycosis Fungoides |
|
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly |
ORPHA:2584 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Increased circulating cortisol level, Primary hypercortisolism, Diabetes mel... |
OMIM:615830 |
| Holoprosencephaly 5 |
|
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... |
OMIM:609637 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Craniosynostosis, Osteopetrosis, Increased bone mineral density, Pathologic fracture, Calvarial o... |
OMIM:259700 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
| Wolfram Syndrome 1 |
|
Neurogenic bladder, Pigmentary retinopathy, Hydroureter, Megaloblastic anemia, Hypothyroidism, Si... |
OMIM:222300 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
| Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation, Elevated circulating methylsuccinic acid concentration, Bilater... |
OMIM:618156 |
| Meckel Syndrome, Type 6 |
|
Anencephaly, Abnormal internal genitalia, Hepatic fibrosis, Cystic liver disease, Renal cyst, Bil... |
OMIM:612284 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Microphthalmia, Isolated 4 |
|
Absent testis, Microphthalmia |
OMIM:613094 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hypoglycemia, Splenomegaly |
ORPHA:664 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy |
OMIM:617713 |
| Cold Agglutinin Disease |
|
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
| Triploidy |
|
Cryptorchidism, Ambiguous genitalia, Holoprosencephaly, Meningocele, Hepatomegaly, Abnormality of... |
ORPHA:3376 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Tubulointerstitial fibrosis, Enlarged kidney, Hepatocellular adenoma, Hepa... |
ORPHA:79259 |
| Xk Aprosencephaly Syndrome |
|
Abnormal external genitalia, Atrial septal defect, Microphthalmia, Ventricular septal defect |
ORPHA:3469 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Horseshoe kidney, Unilateral microphthalmos, Bilateral microphthalmos, Vaginal fistula, Bicuspid ... |
OMIM:619318 |
| Familial Hyperaldosteronism Type Ii |
|
Secretory adrenocortical adenoma, Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid... |
ORPHA:404 |
| Lymphoproliferative Syndrome 2 |
|
Hemophagocytosis, Pancytopenia, Hepatomegaly, Aplastic anemia, Ascites, Splenomegaly, Hepatosplen... |
OMIM:615122 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... |
ORPHA:79301 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Decreased testicular size, Abnormality of the ovary |
ORPHA:1875 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Long penis, Elevated serum 11-deoxycortisol,... |
OMIM:202010 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617967 |
| Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Cardiomegaly, Anem... |
OMIM:618886 |
| Diastrophic Dwarfism |
|
Joint hyperflexibility, Joint stiffness, Camptodactyly of finger, Increased bone mineral density |
ORPHA:628 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Albers-Schönberg Osteopetrosis |
|
Recurrent fractures, Generalized osteosclerosis, Mandibular osteomyelitis, Osteoarthritis, Osteom... |
ORPHA:53 |
| Preeclampsia |
|
Abnormality of the hepatic vasculature, Acute kidney injury, Polycystic ovaries, Thrombocytopenia... |
ORPHA:275555 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Limited wrist movement, Localized osteoporosis, Osteoarthritis of the distal interphalangeal join... |
ORPHA:93284 |
| Familial Hyperaldosteronism Type I |
|
Secretory adrenocortical adenoma, Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-... |
ORPHA:403 |
| Fanconi Anemia, Complementation Group I |
|
Abnormal renal morphology, Atrial septal defect, Horseshoe kidney, Ventricular septal defect, Ren... |
OMIM:609053 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly |
OMIM:224100 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia, Microphthalmia, Anophthalmia |
OMIM:221950 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Lymphadenopathy, Splenomegaly |
OMIM:240500 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Cryptorchidism, Red hair, Fair hair, Congenital hypothyroidism, Hypospadias, Diabetes mellitus, B... |
OMIM:614613 |
| Tetragametic Chimerism |
|
Cryptorchidism, Abnormality of the ovary, Ambiguous genitalia, Ovotestis, Abnormality of the scro... |
ORPHA:199310 |
| Desmoplastic Small Round Cell Tumor |
|
Ovarian neoplasm, Abnormality of the peritoneum, Hepatomegaly, Ascites, Anemia, Testicular neopla... |
ORPHA:83469 |
| Bresek Syndrome |
|
Cryptorchidism, Hypoplasia of the bladder, Renal hypoplasia, Renal dysplasia, Vesicoureteral refl... |
ORPHA:85284 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... |
ORPHA:983 |
| Hydrolethalus Syndrome 1 |
|
Bifid uterus, Accessory spleen, Abnormal vagina morphology, Adrenal gland dysgenesis, Ventricular... |
OMIM:236680 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ovotestis, Renal agenesis, Hypoplasia of the bladder, Ventricular septal defect, Sex reversal, Hy... |
OMIM:611812 |
| Premature Ovarian Failure 7 |
|
Absent pubic hair, Hypoplasia of the uterus, Clitoral hypertrophy, Gonadal dysgenesis, Premature ... |
OMIM:612964 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... |
OMIM:615954 |
| Coach Syndrome 2 |
|
Elevated hepatic transaminase, Hepatic fibrosis, Congenital hepatic fibrosis, Hyperechogenic kidn... |
OMIM:619111 |
| Leydig Cell Hypoplasia |
|
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Ambiguous genitalia, Aplasia of... |
ORPHA:755 |
| Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Hepatomegaly, Splenomegaly, Cardiomegaly, Heparan sulfate excretio... |
OMIM:252920 |
| Tetraamelia Syndrome 1 |
|
Urethral atresia, Adrenal gland agenesis, Hypoplasia of the fallopian tube, Absent external genit... |
OMIM:273395 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... |
OMIM:615631 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Hematuria, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red ... |
OMIM:603903 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Mitr... |
ORPHA:2183 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus, Hydrocephalus |
OMIM:258320 |
| Dextrocardia |
|
Abnormal renal morphology, Situs inversus totalis, Abnormal reproductive system morphology, Abnor... |
ORPHA:1666 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Hepatomegaly, Splenomegaly |
OMIM:616719 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Hydroureter, Renal sarcoma, Mult... |
OMIM:143400 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... |
OMIM:607594 |
| Oculocutaneous Albinism |
|
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... |
ORPHA:55 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Cryptorchidism, Renal hypoplasia, Hypospadias, Renal agenesis, Micropenis, Hydrocephalus |
ORPHA:171839 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... |
OMIM:603909 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal response to ACTH stimulation test, Cryptorchidism, Abnormal response to human chorionic ... |
ORPHA:95699 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White eyebrow, Abnorma... |
ORPHA:894 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Jaundice, Splenomegaly, Cholestasis |
ORPHA:172 |
| Immunodeficiency 54 |
|
Hepatomegaly, Reduced natural killer cell count, Adrenocorticotropic hormone excess, Splenomegaly... |
OMIM:609981 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Genital ulcers |
OMIM:602450 |
| Hyperaldosteronism, Familial, Type Iii |
|
Polyuria, Hyperaldosteronism, Hypercalciuria, Decreased circulating renin level, Adrenal hyperplasia |
OMIM:613677 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Ventriculomegaly, Congenital adrenal hyperplasia, Clitoral hypertrophy, Increas... |
ORPHA:96181 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, Cardiomegaly, Micropht... |
OMIM:618652 |
| Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Hydronephrosis, Microphthalmia, Abnormal localization of kidney |
ORPHA:195 |
| Pentalogy Of Cantrell |
|
Atrial septal defect, Renal agenesis, Ventricular septal defect, Polysplenia, Abnormal pericardiu... |
ORPHA:1335 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Hypogonadism, Microphthalmia |
ORPHA:2528 |
| Biemond Syndrome Ii |
|
Hydrocephalus, Abnormality of the endocrine system |
