| Metatropic Dysplasia |
|
Epiphyseal dysplasia, Short ribs, Halberd-shaped pelvis, Anisospondyly, Flared femoral metaphysis... |
OMIM:156530 |
| Disseminated Sclerosis With Narcolepsy |
|
Narcolepsy |
OMIM:223300 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Enlarged epiphyses, Genu varum, Metaphyseal dysplasia, Metaphyseal irregularity, Pseudoepiphyses ... |
OMIM:613330 |
| Acrocapitofemoral Dysplasia |
|
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
| Thoracomelic Dysplasia |
|
Diaphyseal thickening, Limb undergrowth, Abnormality of the metaphysis, Short ribs, Genu valgum, ... |
ORPHA:1803 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Tibial bowing, Thin bony cortex, Fibular bowing, Deformed rib cage, Rickets, Bowing of the legs, ... |
OMIM:600081 |
| Brachyolmia Type 1, Hobaek Type |
|
Intervertebral space narrowing, Short iliac bones, Sclerotic foci of metaphyses of the elbow, Pec... |
OMIM:271530 |
| Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Upper limb undergrowth, Short ribs, Cupped ribs, Iliac crest serration... |
ORPHA:168549 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Metaphyseal cupping, Thin ribs, Limb undergrowth, Short ribs, Severe platyspondyly, Disc-like ver... |
OMIM:151210 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Lumbar platyspondyly, Increased intervertebral space, Metaphyseal widening, Limb undergrowth, Bea... |
OMIM:618961 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Thin bony cortex, Generalized bone demineralization, Tibial bowing, Rickets, Fibular ... |
OMIM:600785 |
| Glycogen Storage Disease Vi |
|
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco... |
OMIM:232700 |
| Chondrodysplasia, Blomstrand Type |
|
Micrognathia, Generalized osteosclerosis, Stillbirth, Short ribs, Advanced ossification of carpal... |
OMIM:215045 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Limb undergrowth, Metaphyseal irregularity, Delayed epiphyseal ossification, Platyspo... |
OMIM:602557 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinemia, Hypercholesterole... |
OMIM:605814 |
| Schneckenbecken Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Hypoplastic scapulae, Metaphyseal irregularity, Stil... |
OMIM:269250 |
| Low Phospholipid-Associated Cholelithiasis |
|
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... |
ORPHA:69663 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Congenital alopecia totalis, T lymphocytopenia, Nail pits |
ORPHA:169095 |
| Dysosteosclerosis |
|
Increased intervertebral space, Short ribs, Absent frontal sinuses, Progressive bowing of long bo... |
OMIM:224300 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Abnormal ... |
ORPHA:93284 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant diabetes mellit... |
ORPHA:280356 |
| Kyphomelic Dysplasia |
|
Micrognathia, Anterior rib cupping, Lateral clavicle hook, Large hands, Bowing of the long bones,... |
ORPHA:1801 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Short lower limbs, Metaphyseal dysplasia, Genu varum, Abnormality of epiphysis morphology, Bowing... |
ORPHA:2501 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin resistance, I... |
ORPHA:435660 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Tibial bowing, Thin bony cortex, Fibular bowing, Deformed rib cage, Rickets, Bowing of the legs, ... |
OMIM:241530 |
| Achondrogenesis Type 2 |
|
Delayed proximal femoral epiphyseal ossification, Unossified sacrum, Absent vertebral body minera... |
ORPHA:93296 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Anemia, Hyperbilirubinemia, Splenomegaly, Acute myeloi... |
ORPHA:158057 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hirsutism, Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, ... |
OMIM:612526 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transami... |
OMIM:306000 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Short greater sciatic notch, Wide-cupped costochondral junction... |
OMIM:187601 |
| Albers-Schönberg Osteopetrosis |
|
Carious teeth, Optic atrophy, Abnormality of epiphysis morphology, Generalized osteosclerosis, An... |
ORPHA:53 |
| Thoracolaryngopelvic Dysplasia |
|
Horizontal ribs, Irregular chondrocostal junctions, Irregular vertebral endplates, Metaphyseal wi... |
OMIM:187760 |
| Lethal Kniest-Like Dysplasia |
|
Broad long bones, Abnormal cartilage matrix, Coronal cleft vertebrae, Talipes equinovarus, Anteri... |
ORPHA:2347 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Failure to thrive, Hyper... |
OMIM:607765 |
| Autoinflammation With Infantile Enterocolitis |
|
Failure to thrive, Anemia, Splenomegaly, Reduced natural killer cell count, Increased circulating... |
OMIM:616050 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Tibial bowing, Thin bony cortex, Fibular bowing, Subperiosteal bone resorption, Rickets, Bowing o... |
OMIM:264700 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Increased facial adipose tissue, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insu... |
OMIM:608600 |
| Pseudoachondroplasia |
|
Genu varum, Metaphyseal irregularity, Abnormal form of the vertebral bodies, Abnormality of femor... |
ORPHA:750 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hepatic steatosis, Diabetes mel... |
OMIM:610717 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis, Lipoatrophy, Diabetes mellitus, Hypertriglyceridemia |
OMIM:613877 |
| Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Metaphyseal dysplasia, Genu varum, Irregular chondrocostal junctions, Metaphyseal irregularity, S... |
OMIM:250420 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystro... |
ORPHA:79085 |
| Achondrogenesis, Type Ii |
|
Horizontal ribs, Broad long bones, Hypoplastic iliac wing, Stillbirth, Absent vertebral body mine... |
OMIM:200610 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... |
OMIM:615703 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... |
ORPHA:174 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Arthritis, Eosinophilia, Lymphopenia |
ORPHA:2582 |
| Thanatophoric Dysplasia, Type I |
|
Small abnormally formed scapulae, Short greater sciatic notch, Wide-cupped costochondral junction... |
OMIM:187600 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormality of the metaphysis, Coarse metaphyseal trabecularization, Abnorma... |
ORPHA:2779 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant dia... |
ORPHA:435651 |
| Achondrogenesis, Type Ia |
|
Short clavicles, Hypoplastic scapulae, Abnormal hand bone ossification, Unossified vertebral bodi... |
OMIM:200600 |
| Pelger-Huet Anomaly |
|
Upper limb undergrowth, Short 3rd metacarpal, Neutropenia, Short 5th metacarpal, Polydactyly, Fai... |
OMIM:169400 |
| Fibrochondrogenesis 1 |
|
Broad ischia, Joint contracture of the hand, Short ribs, Camptodactyly, Short long bone, Anterior... |
OMIM:228520 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Tibial bowing, Thin bony cortex, Fibular bowing, Subperiosteal bone resorption, Rickets, Bowing o... |
OMIM:277440 |
| Multiple Synostoses Syndrome 1 |
|
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... |
OMIM:186500 |
| Spondylometaphyseal Dysplasia, East African Type |
|
Genu varum, Metaphyseal widening, Rounded epiphyses, Ovoid vertebral bodies, Coxa vara, Bell-shap... |
OMIM:611702 |
| Achondrogenesis, Type Ib |
|
Absent or minimally ossified vertebral bodies, Stillbirth, Short ribs, Narrow chest, Micromelia, ... |
OMIM:600972 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Hirsutism, Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholest... |
OMIM:604367 |
| Somatostatinoma |
|
Increased circulating cortisol level, Primary hyperparathyroidism, Steatorrhea, Diabetes mellitus... |
ORPHA:97283 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Pectus excavatum, Metaphyseal dysplasia, Cervical instability, Kyphoscoliosis, Epiphyseal dysplas... |
OMIM:617425 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Abnormality of femur morphology, Abnormality of the elbow, Abnormality of ... |
ORPHA:1842 |
| Vipoma |
|
Increased circulating cortisol level, Primary hyperparathyroidism, Diabetes mellitus, Intrahepati... |
ORPHA:97282 |
| Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
OMIM:131400 |
| Infantile Sialic Acid Storage Disease |
|
Failure to thrive, Vacuolated lymphocytes, Metaphyseal irregularity, Hypopigmentation of the skin... |
OMIM:269920 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... |
OMIM:606721 |
| Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
| Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Broad ischia, Pectus carinatum, Metaphyseal widening, Metaphyseal irregularity, Platyspondyly, En... |
OMIM:609052 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Precocious puberty in females, Hypertrichosis, Low anterior hairline, Insulin resis... |
ORPHA:528 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Steatorrhea, Elevated circulat... |
OMIM:235555 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Weight loss, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
| Three M Syndrome 1 |
|
Pectus excavatum, Small for gestational age, Short thorax, Short ribs, Short 5th finger, Spina bi... |
OMIM:273750 |
| Fibrochondrogenesis 2 |
|
Thoracic hypoplasia, Micrognathia, Metaphyseal widening, Platyspondyly, Short ribs, Hypoplastic i... |
OMIM:614524 |
| X-Linked Hypophosphatemia |
|
Genu varum, Rickets, Reduced bone mineral density, Bowing of the legs, Generalized osteosclerosis... |
ORPHA:89936 |
| Ppoma |
|
Increased circulating cortisol level, Intestinal carcinoid, Primary hyperparathyroidism, Intrahep... |
ORPHA:97278 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
| Greenberg Dysplasia |
|
Epiphyseal stippling, Neonatal death, Multiple prenatal fractures, Abnormal bone structure, Super... |
OMIM:215140 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Anemia, Splenomegaly, Osteopenia, Hypersplenism, Erlenmeyer flask deformity ... |
OMIM:610539 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adi... |
ORPHA:363400 |
| Immunodeficiency 20 |
|
Reduced natural killer cell count |
OMIM:615707 |
| Lipase Deficiency, Combined |
|
Pancreatitis, Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia |
OMIM:246650 |
| Hypochondroplasia |
|
Genu varum, Aplasia/hypoplasia of the extremities, Limited elbow extension, Abnormality of pelvic... |
OMIM:146000 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Polyphagia, Decreased response to growth hormone stimulation test, Hyperbi... |
OMIM:609734 |
| Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Neutropenia, Abnormal form of the vertebral bodies, Short thorax, Limited ... |
ORPHA:175 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Failure to thrive in infancy, Hypertriglyceridemia, Splenomegaly |
OMIM:619175 |
| Roifman Syndrome |
|
Delayed proximal femoral epiphyseal ossification, Broad femoral head, Hip contracture, Prominent ... |
ORPHA:353298 |
| Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Failure to thrive, Splenomegaly, Cirrhosis, Conjugated hy... |
OMIM:601847 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Type II diabetes mellitus, Polyphagia, Hyperinsulinemia, Hypertriglycer... |
ORPHA:71529 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Genu varum, Thin bony cortex, Tibial bowing, Subperiosteal bone resorption, Rickets, Deformed rib... |
ORPHA:289157 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Abnormal ilium morphology, Broad ischia, Increased intervertebral space, Cervical spinal canal st... |
ORPHA:508533 |
| Malaria |
|
Anemia, Hyperbilirubinemia, Retinopathy, Thrombocytopenia, Elevated circulating C-reactive protei... |
ORPHA:673 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Decreased... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Decreased... |
ORPHA:71526 |
| Hypophosphatasia, Infantile |
|
Decreased calvarial ossification, Short lower limbs, Death in infancy, Bowing of the legs, Failur... |
OMIM:241500 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Micrognathia, Coxa valga, Abnormal joint morphology, Rickets, Avascular necrosis of the capital f... |
ORPHA:1901 |
| Grfoma |
|
Neoplasm of the thymus, Increased circulating cortisol level, Intestinal carcinoid, Primary hyper... |
ORPHA:97261 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Enlargement of the ... |
OMIM:300554 |
| Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eosinophilia, Craniosynostosis, Joint contracture of the hand, Clubbing, Keratitis, Hip dislocati... |
OMIM:618523 |
| Mirage Syndrome |
|
Hyperkalemia, Hyponatremia, Hypoglycemia, Radial club hand, Leukopenia, Talipes equinovarus, Rock... |
OMIM:617053 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Carious teeth, Optic atrophy, Sandwich appearance of vertebral bodies, Failure to thrive, Osteope... |
OMIM:259700 |
| Atelosteogenesis, Type Ii |
|
Short middle phalanx of finger, Short greater sciatic notch, Increased intervertebral space, Tali... |
OMIM:256050 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Failure to thrive, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea,... |
OMIM:613812 |
| Roifman Syndrome |
|
Single transverse palmar crease, Hip contracture, Irregular vertebral endplates, Prominent eyelas... |
OMIM:616651 |
| Otopalatodigital Syndrome, Type Ii |
|
Nonossified fifth metatarsal, Undulate clavicles, Short metatarsal, Short ribs, Broad hallux, Bul... |
OMIM:304120 |
| Cinca Syndrome |
|
Leukocytosis, Patellar overgrowth, Anemia, Arthritis, Papilledema, Hepatosplenomegaly, Eosinophil... |
OMIM:607115 |
| Hermansky-Pudlak Syndrome 2 |
|
Carious teeth, Neutropenia, Ocular albinism, Aberrant melanosome maturation, Enlarged platelet de... |
OMIM:608233 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hypertriglyceridemia, Hepatic... |
ORPHA:436182 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Metaphyseal cupping, Small for gestational age, Dysplastic sacrum, Short ribs, Wormian bones, Ili... |
OMIM:613320 |
| Diastrophic Dysplasia |
|
Costal cartilage calcification, Irregular epiphyses, Hip contracture, Talipes equinovarus, Short ... |
OMIM:222600 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic atrophy, Micrognathia, Optic disc pallor, Osteopetrosis, Anemia, Decreased osteoclast count... |
OMIM:259720 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
| Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
B lymphocytopenia, Hypertrichosis, Cone-shaped epiphysis, Optic nerve hypoplasia, Clinodactyly of... |
ORPHA:221139 |
| Caroli Disease |
|
Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Weight loss, Cholelithi... |
ORPHA:53035 |
| Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Pseudoarthrosis, Pectus excavatum, Missing ribs, Short ribs, Scoliosis |
OMIM:618155 |
| Edinburgh Malformation Syndrome |
|
Jaundice, Death in infancy, Failure to thrive, Neonatal hyperbilirubinemia |
OMIM:129850 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Hydronephrosis, Hypoglycemia, Decreased serum insulin-like growth factor 1, Increas... |
OMIM:614921 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Short thorax, Microretrognathia, Short long bone, Small epiphyses, Micrognathia,... |
OMIM:618363 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Failure to thrive, Hyperbiliru... |
OMIM:214950 |
| Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, Oligoarthritis, Reduced natural killer cell count, Decreased propor... |
OMIM:619510 |
| Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
| Hyperparathyroidism, Transient Neonatal |
|
Thin ribs, Short ribs, Osteopenia, Narrow chest, Femoral bowing |
OMIM:618188 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia, Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finge... |
ORPHA:71289 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormal form o... |
ORPHA:1802 |
| Glucagonoma |
|
Increased circulating cortisol level, Primary hyperparathyroidism, Steatorrhea, Diabetes mellitus... |
ORPHA:97280 |
| Hip Dysplasia, Beukes Type |
|
Abnormality of bone mineral density, Abnormality of epiphysis morphology, Kyphosis, Abnormality o... |
ORPHA:2114 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Failure to thrive, Alopecia, Decreased proportion of CD3-positive T cells, Hepatospl... |
ORPHA:169154 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Diabetes m... |
OMIM:610947 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Abnormal circulating lipid concentration, Lipodystrophy, Hepatic steatosis, Hypertr... |
OMIM:615238 |
| Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Failure to thrive, Reduced natural killer cell count, Perianal abscess, T lymp... |
OMIM:618108 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... |
ORPHA:293964 |
| Refractory Celiac Disease |
|
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Weight loss, Osteo... |
ORPHA:398063 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
C1-C2 subluxation, Epiphyseal stippling, Long fibula, Short ribs, Atlantoaxial instability, Hip s... |
OMIM:271665 |
| Immunodeficiency 54 |
|
Failure to thrive, Reduced natural killer cell count, Hyperpigmentation of the skin, Splenomegaly |
OMIM:609981 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Failure to thrive, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasi... |
OMIM:211600 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Periportal fibrosis, Failure to thrive, Elevated gamma-glutamyltransferase level, Conjugated hype... |
OMIM:619484 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Irregular epiphyses, Small epiphyses, Metaphyseal spurs, Micromelia, Thoracic hypoplasia, Bowing ... |
OMIM:608728 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Thoracic hypoplasia, Micrognathia, Adducted thumb, Small for gestational age, Decreased fibular d... |
OMIM:616897 |
| Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Abnormality of the liver, Prolonged... |
ORPHA:79234 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Metaphyseal dysplasia, Elevated circulating creatine kinase concentration, Failure to thrive, Kyp... |
OMIM:614727 |
| Temple Syndrome |
|
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... |
OMIM:616222 |
| Omenn Syndrome |
|
B lymphocytopenia, Hypoproteinemia, Failure to thrive, Hypoplasia of the thymus, Alopecia, Anemia... |
OMIM:603554 |
| Pyknoachondrogenesis |
|
Poorly ossified vertebrae, Horizontal ribs, Short iliac bones, Enlarged thorax, Aplastic pubic bo... |
ORPHA:3003 |
| Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia |
ORPHA:169079 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Failure to thrive secondary to recurrent infections, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
| Gnathodiaphyseal Dysplasia |
|
Thickened cortex of long bones, Bowing of the long bones, Osteopenia, Mandibular osteomyelitis, R... |
ORPHA:53697 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Anterior rib cupping, Failure to thrive, Reduced red cell adenosine deaminase ... |
OMIM:102700 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Decreased calvarial ossification, 2-3 toe syndactyly, Radial bowing, Micrognathia, Thoracic hypop... |
OMIM:617866 |
| Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:601859 |
| Pyle Disease |
|
Metaphyseal dysplasia, Hypoplastic frontal sinuses, Metaphyseal widening, Platyspondyly, Abnormal... |
OMIM:265900 |
| Ollier Disease |
|
Abnormality of the metaphysis, Platyspondyly, Osteolysis, Abnormal cartilage morphology, Joint st... |
ORPHA:296 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Talipes equinovarus, Metaphyseal irregularity, Long fibula, Short ribs, Cupped ribs, 11 pairs of ... |
OMIM:250220 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia, Elevated circulating alkaline phosph... |
OMIM:605479 |
| Fibrous Dysplasia Of Bone |
|
Abnormality of the ulna, Fibrous dysplasia of the bones, Rickets, Abnormal bone structure, Patchy... |
ORPHA:249 |
| Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Abnormal liver function tests during pregnancy, Elevated hepatic transaminase, Increased serum bi... |
OMIM:147480 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Death in infancy, Hypoglycemia, Ascites, Failure to thrive, Cir... |
OMIM:617156 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Abnormal vertebral segmentation and fusion, Narrow... |
ORPHA:66637 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Insulin resistance, Lipodystrophy, Hypogonadism, Hepatic steatosis, Diabetes mellit... |
OMIM:615381 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... |
ORPHA:86841 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Irregular vertebral endplates, Beaking of vertebral bodies, Enlarged meta... |
OMIM:609616 |
| Immunodeficiency 49 |
|
Micrognathia, Hirsutism, Wormian bones, Natal tooth, Lymphopenia, Eosinophilia, Umbilical hernia |
OMIM:617237 |
| Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Short... |
ORPHA:2021 |
| Cholestasis, Intrahepatic, Of Pregnancy 3 |
|
Intrahepatic cholestasis, Increased serum bile acid concentration during pregnancy, Abnormal live... |
OMIM:614972 |
| Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Short ribs, Reduced bone mineral density, Syndactyly, Abnormal pelvis ... |
ORPHA:1505 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Abnormality of the vertebral column, Metaphyseal dysplasia, Genu varum, Micromelia, Metaphyseal c... |
OMIM:250460 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased adipose tissue around the neck, Splenomegaly, Lipoatrophy, Diabetes mellitus, Minimal s... |
ORPHA:280365 |
| Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia, Conjunctivitis |
ORPHA:26137 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Metaphyseal dysplasia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyp... |
ORPHA:1667 |
| Prieto X-Linked Mental Retardation Syndrome |
|
Talipes equinovarus, Patellar subluxation, Osteoporosis, Radial deviation of finger, 11 pairs of ... |
OMIM:309610 |
| Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Craniosynostosis, Short r... |
OMIM:252600 |
| Kenny-Caffey Syndrome, Type 1 |
|
Thin clavicles, Long clavicles, Carious teeth, Thin ribs, Delayed closure of the anterior fontane... |
OMIM:244460 |
| Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Leukocytosis, Thrombocytosis, Hyponatremia, Hypernatremia, Elevated circulating cre... |
ORPHA:94093 |
| Pseudoachondroplasia |
|
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... |
OMIM:177170 |
| Hypophosphatemic Bone Disease |
|
Osteomalacia, Bowing of the legs, Rickets |
OMIM:146350 |
| X-Linked Agammaglobulinemia |
|
Hypopigmented skin patches, Neutropenia, Recurrent cutaneous abscess formation, Failure to thrive... |
ORPHA:47 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Thin ribs, Hypoplastic iliac wing, Metaphyseal cupping of metacarpals, Rhizomelia, Distal shorten... |
OMIM:300863 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Pancreatitis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbili... |
OMIM:243300 |
| Omenn Syndrome |
|
Leukocytosis, Failure to thrive, Abnormal lymphocyte morphology, Anemia, Abnormality of the metap... |
ORPHA:39041 |
| Immunodeficiency 24 |
|
Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated invariant T cells, Lymphopenia,... |
OMIM:615897 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Failure to thrive, Reduced natural killer cell count, Micrognathia, T lymphocytopenia |
OMIM:242860 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... |
OMIM:614480 |
| Dyssegmental Dysplasia With Glaucoma |
|
Broad long bones, Hip contracture, Delayed epiphyseal ossification, Platyspondyly, Wide anterior ... |
OMIM:601561 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Neonatal ch... |
OMIM:214900 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... |
ORPHA:443811 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Nail dystrophy, Alopecia, Decreased helper T cell proportion, T lymphocytopenia, Nai... |
OMIM:601705 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Portal fibrosis, Failure to thrive, Hyperbilirubinemia, Decreased liver function, Hepatic steatos... |
OMIM:614300 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Increased facial adipose tissue, Hepatomegaly, Decreased HDL cholesterol concentration, Hirsutism... |
OMIM:151660 |
| Alg12-Cdg |
|
Talipes equinovarus, Proximal placement of thumb, Abnormal adipose tissue morphology, Camptodacty... |
ORPHA:79324 |
| Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
| Generalized Eruptive Histiocytosis |
|
Leukemia, Spotty hyperpigmentation, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
| Poland Syndrome |
|
Hemivertebrae, Unilateral oligodactyly, Short ribs, Sprengel anomaly, Syndactyly, Rib fusion, Uni... |
OMIM:173800 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Hepatos... |
OMIM:274000 |
| Immunodeficiency 19 |
|
Failure to thrive, Lymphopenia |
OMIM:615617 |
| Alpha-Heavy Chain Disease |
|
Alopecia, Anemia, Splenomegaly, Premature ovarian insufficiency, Hypocalcemia |
ORPHA:100025 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Micrognathia, Broad long bones, Adducted thumb, Metaphyseal widening, Bowing of the long bones, J... |
OMIM:224400 |
| Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Fine hair, Lateral displacement of the femoral head, Opacification of... |
OMIM:242900 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Lipodystrophy, Po... |
ORPHA:2348 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... |
ORPHA:766 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal form of the vertebral bodies, Anemia, Abnormal hemoglobin, Melanocytic nevus, Decreased ... |
ORPHA:3319 |
| Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
| Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin resistance... |
ORPHA:79083 |
| Insulin-Like Growth Factor I Deficiency |
|
Micrognathia, Osteopenia, Radial deviation of finger, Decreased body weight, Clinodactyly |
OMIM:608747 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Neutrophil inclusion bodies, Menorrhagia, Leukocyte inclusion bodies, Giant platelets, Thrombocyt... |
OMIM:155100 |
| Fechtner syndrome |
|
Neutrophil inclusion bodies, Menorrhagia, Developmental cataract, Leukocyte inclusion bodies, Gia... |
OMIM:153640 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Reduced bone mineral densit... |
ORPHA:2370 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Abnormal acetabulum morphology, Genu varum, Arthralgia of the hip, Short long bone, Avascular nec... |
ORPHA:93308 |
| Dent Disease 1 |
|
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Enlargement of the ... |
OMIM:300009 |
| Noonan Syndrome 12 |
|
Spinal canal stenosis, Pectus excavatum, Proximal placement of thumb, 11 pairs of ribs, Lymphopen... |
OMIM:618624 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Failure to thrive, Decreased proportion of CD3-positive T ... |
ORPHA:276 |
| Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Hip contracture, Narrow pelvis bone, Arthrogryposis multiplex congenita, Knee flexion contracture... |
OMIM:602484 |
| Hypochondroplasia |
|
Spinal canal stenosis, Genu varum, Abnormality of femur morphology, Abnormality of the elbow, Bow... |
ORPHA:429 |
| Myh9-Related Disease |
|
Presenile cataracts, Neutrophil inclusion bodies, Increased mean platelet volume, Menorrhagia, Gi... |
ORPHA:182050 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Cirrhosis, Hypertriglyceridemia, Adrenal calcif... |
ORPHA:75234 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Nail dystrophy, T lymphocytopenia |
OMIM:618806 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Generalized aminoaciduria, Hypoglycemia, Hepatocellular necrosis, Ascites, Hypother... |
OMIM:251880 |
| Atelosteogenesis Type Ii |
|
Short lower limbs, Upper limb undergrowth, Excessive femoral anteversion, Hitchhiker thumb, Short... |
ORPHA:56304 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormality of the vertebral column, Polydactyly, Small for gestational age, Stillbirth, Abnormal... |
ORPHA:294975 |
| Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... |
ORPHA:93323 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Weight loss, Anemia, Hypocalcemia, Reduced proportion of CD4+ effector memory T ... |
ORPHA:90362 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Bone cyst, Genu varum, Abnormal form of the vertebral bodies, Joint dislocation, Abnormal bone st... |
ORPHA:93160 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... |
OMIM:616828 |
| Sternum, Premature Obliteration Of Sutures Of |
|
Short sternum, Micrognathia, Premature sternal synostosis |
OMIM:184800 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
| Immunodeficiency 17 |
|
Failure to thrive, Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia |
OMIM:615607 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Intervertebral space narrowing, Genu varum, Flat capital femoral epiphysis, Pectus carinatum, Irr... |
OMIM:609223 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Failure to thrive, Decreased proportion of CD3-positive T cells, Hepatospl... |
ORPHA:331206 |
| Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, S... |
OMIM:607616 |
| Takenouchi-Kosaki Syndrome |
|
Optic atrophy, Highly arched eyebrow, Increased mean platelet volume, Dental malocclusion, Tapere... |
OMIM:616737 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Biliary tract abnormality, Jaundice |
OMIM:237500 |
| Candidiasis, Familial, 2 |
|
Hypereosinophilia, Decreased serum iron |
OMIM:212050 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Osteopenia, Acute myeloid leuke... |
ORPHA:486 |
| Momo Syndrome |
|
Femoral bowing, Large hands, Congenital pseudoarthrosis of the clavicle, Large for gestational ag... |
ORPHA:2563 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Fasting hypoglycemia, Portal fibrosis, Splenomegaly, Abnormal erythrocyte enzyme level, Hepatic f... |
ORPHA:370 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Leukopenia, Failure to thrive, Anemia, Hyperuricemia, Hypomagnesemia, Diabetes mell... |
OMIM:613845 |
| Eiken Syndrome |
|
Limited elbow flexion, Abnormal acetabulum morphology, Thin bony cortex, Cubitus valgus, Narrow p... |
ORPHA:79106 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Polydactyly, Short ribs, Narrow chest, Short long bone, Scoliosis, Brachydactyly |
OMIM:613819 |
| Rotor Syndrome |
|
Bilirubinuria, Porphyrinuria, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormal enzyme/... |
ORPHA:3111 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormal ilium morphology, Abnormality of the vertebral column, Micrognathia, Metaphyseal dysplas... |
ORPHA:93316 |
| Cleidocranial Dysplasia |
|
Abnormal facility in opposing the shoulders, Aplastic clavicle, Short ribs, Absent frontal sinuse... |
OMIM:119600 |
| Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Enlarged epiphyses, Osteoporosis, Joint contracture of the hand, Osteopenia, Camptodactyly, Obesity |
OMIM:264010 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Scapular winging, Eosinophilia, Flexion contracture, Elevated circulating creatine kinase concent... |
OMIM:253600 |
| Seckel Syndrome 4 |
|
11 pairs of ribs, Steep acetabular roof, Decreased body weight |
OMIM:613676 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Dysphagia, Hirsutism, Insulin resistance, Elevated circulating creatine kinase conc... |
OMIM:613327 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Craniosynostosis, Osteopenia, Persistence of primary teeth, Eosinophilia, Scoliosis |
OMIM:147060 |
| Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Death in infancy, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Steator... |
OMIM:278000 |
| Occipital Horn Syndrome |
|
Absent tibia, Rickets, Aplastic clavicle, Synostosis of joints, Brachydactyly, Delayed cranial su... |
ORPHA:198 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Genu varum, Platyspondyly, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Coxa vara, U... |
OMIM:618728 |
| Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia |
OMIM:614164 |
| Marshall-Smith Syndrome |
|
Pectus excavatum, Large sternal ossification centers, Failure to thrive, Short sternum, Bullet-sh... |
OMIM:602535 |
| Immunodeficiency 82 With Systemic Inflammation |
|
B lymphocytopenia, Decreased proportion of naive T cells, Elevated circulating C-reactive protein... |
OMIM:619381 |
| Kniest-Like Dysplasia, Lethal |
|
Coronal cleft vertebrae, Talipes equinovarus, Rhizomelia, Metaphyseal irregularity, Platyspondyly... |
OMIM:245190 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micrognathia, Broad long bones, Pterygium, Talipes equinovarus, Bowing of the legs, Limb undergro... |
ORPHA:1865 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid... |
ORPHA:79086 |
| Syndromic Diarrhea |
|
Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet volume, Generalized hypo... |
ORPHA:84064 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Brachytelomesophalangy, Hip osteoarthritis, Abnormal femoral head morphology, Knee osteoarthritis... |
ORPHA:2619 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Failure to thrive secondary to recurrent infections, Decreased proportion of CD3-positive T cells... |
ORPHA:169160 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Odontochondrodysplasia 1 |
|
Genu varum, Death in infancy, Genu recurvatum, Short phalanx of finger, Short long bone, Flat ace... |
OMIM:184260 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... |
ORPHA:79303 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Menorrhagia, Increased mean platelet volume, Impaired epinephrine-induced platelet aggregation, I... |
OMIM:619271 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal ilium morphology, Abnormality of the vertebral column, Cervical platyspondyly, Genu varu... |
ORPHA:93314 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hypoalbuminemia, Abnormal conju... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hypoalbuminemia, Abnormal conju... |
ORPHA:529799 |
| Slc35A1-Cdg |
|
Neutropenia, Abnormal platelet granules, Giant platelets, Thrombocytopenia, Cellulitis |
ORPHA:238459 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inade... |
OMIM:613673 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, J... |
OMIM:603552 |
| Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... |
OMIM:613070 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Small nail, Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Syndactyly, Poikilocytosis... |
OMIM:615631 |
| Eosinophilic Gastroenteritis |
|
Leukocytosis, Weight loss, Anemia, Steatorrhea, Hypoalbuminemia, Eosinophilia, Elevated circulati... |
ORPHA:2070 |
| Pycnodysostosis |
|
Spondylolysis, Micrognathia, Osteolytic defects of the distal phalanges of the hand, Absent front... |
OMIM:265800 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Abnormal ilium morphology, Irregularity of vertebral bodies, Abnormal hip joint morphology, Genu ... |
ORPHA:1159 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Macrothrombocytopenia and progressive sensorineural deafness |
|
Thrombocytopenia, Macrothrombocytopenia, Giant platelets |
OMIM:600208 |
| Alg8-Cdg |
|
Hyponatremia, Optic atrophy, Talipes equinovarus, Small for gestational age, Failure to thrive, A... |
ORPHA:79325 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Incontinentia Pigmenti |
|
Atrophic, patchy alopecia, Hypoplastic nipples, Delayed eruption of teeth, Eosinophilia, Sparse h... |
OMIM:308300 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Increased LDL... |
OMIM:267700 |
| Heyn-Sproul-Jackson Syndrome |
|
Broad phalanx, 11 pairs of ribs, Short metacarpal, Decreased body weight, Short phalanx of finger... |
OMIM:618724 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Metaphyseal cupping, Micrognathia, Hip contracture, Bowing of the long bones, Short ribs, Knee fl... |
OMIM:156400 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Splenomegaly, Abnormal erythrocyte enzyme le... |
ORPHA:264580 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... |
ORPHA:171706 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Metaphyseal dysplasia, Neutropenia, S... |
OMIM:250250 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Splenomegaly |
OMIM:607685 |
| Short Stature, Brussels Type |
|
Narrow chest, Microretrognathia, Delayed epiphyseal ossification, Calcification of cartilage |
ORPHA:2867 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Failure to thrive, Absence of CD8-positive T cells, Hepatosplenomegaly, Lymphocytosis, Autoimmune... |
ORPHA:911 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Thrombocytopenia, Leukocytosis, Hyponatremia |
ORPHA:83601 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Limited elbow flexion, Double-layered patella, Flat capital femoral epiphysis, Hypoplasia of the ... |
OMIM:226900 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Genu valgum, Bell-shaped thorax, Postaxia... |
OMIM:615630 |
| Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia, Jaundice |
OMIM:237900 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets |
OMIM:241520 |
| Immunodeficiency 25 |
|
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia |
OMIM:610163 |
| Aspergillosis |
|
Abnormality of the vertebral column, Neutropenia, Abnormality of long bone morphology, Keratitis,... |
ORPHA:1163 |
| Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inadequate pr... |
OMIM:237800 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Fanconi-Bickel Syndrome |
|
Fasting hypoglycemia, Increased hepatic glycogen content, Abnormal hepatic glycogen storage, Hypo... |
ORPHA:2088 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestat... |
ORPHA:324575 |
| Metatropic Dysplasia |
|
Long thorax, Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Abno... |
ORPHA:2635 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia |
OMIM:618660 |
| Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Ascites, Increased total bilirubin, Elevated hepatic transaminase, Renal insufficie... |
ORPHA:890 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Micrognathia, Lack of facial subcutaneous fat, Small for gestational age, Hyperpigmented nevi, In... |
ORPHA:2959 |
| Caroli Syndrome |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Elevate... |
ORPHA:480520 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Tapered finger, Foot acroosteolysis, Abnormality of epiphysis morphology... |
ORPHA:970 |
| Progressive Familial Intrahepatic Cholestasis |
|
Abnormality of thrombocytes, Failure to thrive, Reduced bone mineral density, Splenomegaly, Hypoc... |
ORPHA:172 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia |
OMIM:131440 |
| Mednik Syndrome |
|
Intrahepatic cholestasis, Decreased circulating copper concentration, Decreased circulating cerul... |
ORPHA:171851 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormal circulating thyroglobulin level, Decreased circulating T4 level, Decreased thyroid-stimu... |
ORPHA:95715 |
| Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Neonatal hyperbilirubinemia, Decreased circulating T4 level, Elevated circulating th... |
ORPHA:95717 |
| Sebastian syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:605249 |
| Hypophosphatasia |
|
Hypercalcemia, Failure to thrive in infancy, Bowing of the long bones, Craniosynostosis, Anemia, ... |
ORPHA:436 |
| Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormality of pelvic girdle bone morphology, Short toe, Abnormality of long bone morphology, Sho... |
OMIM:259270 |
| Immunodeficiency 7 |
|
Failure to thrive, Hypereosinophilia |
OMIM:615387 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Neuroendocrine neoplasm, Hepatomegaly, Ascites, Elevated alkaline phosphatase of hepatic origin, ... |
ORPHA:100085 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Nephrocalcinosis, Right ventricular hypertrophy, Failure to thrive, Renal t... |
OMIM:613404 |
| Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Neutropenia, Hyperlipidemia, Shallow acetabular fossae... |
ORPHA:1830 |
| Incontinentia Pigmenti |
|
Abnormal hair morphology, Dystrophic toenail, Abnormal dental enamel morphology, Delayed eruption... |
ORPHA:464 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Acholic stools, Hyperlipidemia, Biliary tract abnormality, Abnormality of urine hom... |
ORPHA:1414 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia, Hyperpigmented streaks |
OMIM:614323 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Giant cell hepatitis, Type II diabetes mellitus, Elevated circulating creatine kinase concentrati... |
ORPHA:79095 |
| Dyggve-Melchior-Clausen Disease |
|
Abnormality of the vertebral column, Metaphyseal dysplasia, Hypoplastic acetabulae, Epiphyseal dy... |
ORPHA:239 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Craniosynostosis, Short phalanx of finger, Short ribs, Hypoplasia of the c... |
OMIM:266920 |
| Meier-Gorlin Syndrome 1 |
|
Cutaneous finger syndactyly, Genu varum, Talipes equinovarus, Joint contracture of the hand, Shor... |
OMIM:224690 |
| Epiphyseal Dysplasia, Multiple, 6 |
|
Irregular epiphyses, Small epiphyses, Flat distal femoral epiphysis, Flat capital femoral epiphys... |
OMIM:614135 |
| Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Biconcave vertebral bodies, Short clavicles, Prominent deltoid tuberosities, Rhizomelia, Short ri... |
OMIM:610319 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Giant cell hepatitis, Nephrocalcinosis, Right ventricular hypertrophy, Failure ... |
OMIM:208085 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Abnormality of the carpal bones, Upper limb undergrowth, Abnormal joint morphology, Pectus carina... |
ORPHA:93351 |
| Schneckenbecken Dysplasia |
|
Diaphyseal thickening, Lateral clavicle hook, Hypoplastic scapulae, Abnormal form of the vertebra... |
ORPHA:3144 |
| Legg-Calvé-Perthes Disease |
|
Joint dislocation, Cartilage destruction |
ORPHA:2380 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Hypokalemia, Hyperpigmentation of the skin, Nail dystrophy, Anemia, Alopecia, Clubbing,... |
OMIM:175500 |
| Immunodeficiency 72 With Autoinflammation |
|
Increased B cell count, Clubbing of fingers, Hepatosplenomegaly, Increased proportion of memory T... |
OMIM:618982 |
| Poland Syndrome |
|
Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal sternum morphology, Aplasia/Hy... |
ORPHA:2911 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormal thorax morphology, Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia |
OMIM:200900 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Death in infancy, Increased total bilirubin, Cholestasis, Hepatic failure, Elevated... |
OMIM:618528 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Portal fibrosis, Hyperlipidemia, Increased hepatic glycogen content, ... |
ORPHA:369 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Vertebral wedging, Beaking of vertebral bodies, Bowing of the long bones, Abnormal form of the ve... |
ORPHA:40 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia |
OMIM:124900 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, Failure to thrive, Failure to thrive secondary to recurrent infections, Arthri... |
OMIM:601457 |
| Cooper-Jabs Syndrome |
|
Missing ribs, Proximal placement of thumb, Reduced bone mineral density, Abnormal rib morphology,... |
ORPHA:1488 |
| Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Eosinophilia, Alopecia, Micrognathia |
OMIM:618282 |
| Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
| Dysspondyloenchondromatosis |
|
Kyphoscoliosis, Generalized joint laxity, Joint dislocation, Abnormality of ulnar metaphysis, Pla... |
ORPHA:85198 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Elevated hepatic... |
OMIM:602347 |
| Lathosterolosis |
|
Toe syndactyly, Micrognathia, Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis... |
OMIM:607330 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Prematu... |
OMIM:607078 |
| Hypophosphatasia, Adult |
|
Chondrocalcinosis, Rickets, Increased susceptibility to fractures, Pathologic fracture, Osteomala... |
OMIM:146300 |
| Immunodeficiency 76 |
|
B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly |
OMIM:619164 |
| Glycogen Storage Disease Ixc |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... |
OMIM:613027 |
| Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... |
OMIM:615513 |
| Brachydactyly, Type B1 |
|
Cutaneous finger syndactyly, Short middle phalanx of finger, Vertebral fusion, Hemivertebrae, Tho... |
OMIM:113000 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Elevated circulating al... |
ORPHA:247598 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Elevated gamma-glutamyltransferase level... |
OMIM:619662 |
| Endosteal Hyperostosis, Worth Type |
|
Diaphyseal thickening, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of the... |
ORPHA:2790 |
| Scarf Syndrome |
|
Pectus carinatum, Craniosynostosis, Abnormal form of the vertebral bodies, Short sternum, Short n... |
ORPHA:3134 |
| Wt Limb-Blood Syndrome |
|
Micrognathia, Hypoplastic anemia, Ulnar deviation of thumb, Leukemia, Clinodactyly of the 5th fin... |
OMIM:194350 |
| Relapsing Fever |
|
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Anemia, Increased total ... |
ORPHA:91547 |
| Fanconi Anemia, Complementation Group G |
|
Neutropenia, Leukemia, Anemia, Abnormal thumb morphology, Multiple cafe-au-lait spots, Thrombocyt... |
OMIM:614082 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Decreased proportion of class-switched memory B cells, Alopecia, Arthriti... |
OMIM:615559 |
