Deoxyribose-5-Phosphate Aldolase Deficiency |
|
Abnormal circulating enzyme concentration or activity |
OMIM:125460 |
Lactate Dehydrogenase B Deficiency |
|
Reduced lactate dehydrogenase B level |
OMIM:614128 |
Hydroxyacyl Glutathione Hydrolase Deficiency |
|
Glyoxalase deficiency |
OMIM:614033 |
Alcohol Sensitivity, Acute |
|
Reduced acetaldehyde dehydrogenase level |
OMIM:610251 |
Acatalasemia |
|
Reduced catalase level |
OMIM:614097 |
Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis |
OMIM:608805 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Medial Condensing Osteitis Of The Clavicle |
|
Elevated circulating C-reactive protein concentration, Limited shoulder movement, Patchy reductio... |
ORPHA:57196 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Hyperlordosis, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abn... |
ORPHA:970 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Winchester Syndrome |
|
Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Generalized os... |
OMIM:277950 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of... |
ORPHA:2790 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Spinocerebellar Ataxia Type 43 |
|
Peripheral axonal neuropathy, Foot dorsiflexor weakness, Decreased number of large peripheral mye... |
ORPHA:497764 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615269 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Tremor, Chorea, Axonal degeneration, Gait ataxia, Loss of ambulat... |
OMIM:208920 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
Extensor Tendons Of Finger Anomalies |
|
Limitation of joint mobility, Osteoporosis, Camptodactyly of finger |
ORPHA:3294 |
Peroxisome Biogenesis Disorder 8B |
|
Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Loss of ambulation, Ataxia, Limb trem... |
OMIM:614877 |
Hyaline Fibromatosis Syndrome |
|
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis |
OMIM:228600 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... |
OMIM:617672 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex |
OMIM:174810 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
Ollier Disease |
|
Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis, Platyspond... |
ORPHA:296 |
Paget Disease Of Bone 4 |
|
Osteolysis |
OMIM:606263 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center |
OMIM:235550 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T... |
ORPHA:53697 |
Isolated Glycerol Kinase Deficiency |
|
Osteoporosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis |
ORPHA:408 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Increased circulating antibody lev... |
ORPHA:100024 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Peripheral axonal degeneration, Decreased number of peripheral myelinated ner... |
OMIM:302800 |
Xanthoma Disseminatum |
|
Osteolysis |
ORPHA:158003 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Impaired distal proprioception, Quadriceps muscle weakness, Axona... |
ORPHA:101097 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Lumbar hyperlordosis, Dystonia, Facial palsy, Elevated alkaline phosphatase of bone or... |
OMIM:167320 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Cerebellar atrophy, Delayed CNS myelination, Ataxia, Impaired distal proprioception, Impaired dis... |
OMIM:619742 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Joint hyperflexibility, Brachydactyly, Osteoporosis, Short distal phalanx of finger |
ORPHA:2787 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Dystonia, Ataxia, Hypoplasia of the pons, Dysplastic corpus callosum, Respira... |
OMIM:618276 |
Juvenile Hyaline Fibromatosis |
|
Abnormal diaphysis morphology, Progressive flexion contractures, Osteolysis, Joint stiffness |
ORPHA:2028 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of peripheral myelinated nerve fibers, Vocal cord paresis, Broad-based gait, Dis... |
OMIM:614895 |
Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... |
ORPHA:79106 |
Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Platyspon... |
OMIM:265900 |
Spinocerebellar Ataxia Type 25 |
|
Impaired pain sensation, Decreased number of large peripheral myelinated nerve fibers, Babinski s... |
ORPHA:101111 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... |
ORPHA:2501 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Distal muscle weakn... |
OMIM:145900 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Inherited Creutzfeldt-Jakob Disease |
|
Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, Progressive extrapyrami... |
ORPHA:282166 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Osteolysis, Short distal phalanx of finger |
ORPHA:2776 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Decreased testicular size, Ataxia, Short stature, Kyphoscoliosis,... |
OMIM:604168 |
Familial Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Choreoathetosis, Upper limb muscle weakness, Hypertonia, Atrophy/Degeneration involv... |
ORPHA:225154 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma... |
ORPHA:2869 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615271 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Abnormal form of the verteb... |
ORPHA:93160 |
Premature Ovarian Failure 2B |
|
Osteoporosis |
OMIM:300604 |
Spastic Paraplegia 32, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Spastic paraplegia, Babinski sign, Cerebral atrophy, A... |
OMIM:611252 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Urinary incontinence, Impaired vibration sensation in the lower limbs, Hand tremor, Head tremor, ... |
OMIM:614409 |
Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Distal muscle weakness, Tremor, Gait ataxia, Dif... |
ORPHA:423296 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffness, Kyphosis, Abnormal fo... |
ORPHA:2635 |
Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp... |
ORPHA:73 |
Squamous Cell Carcinoma Of The Esophagus |
|
Esophageal carcinoma, Lymphadenopathy |
ORPHA:99977 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Urinary incontinence, Abnormal pyramidal sign, Spastic dysarthria, Head tremor, Ataxia, Upper lim... |
ORPHA:320391 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Cerebellar atrophy, Waddling gait, Delayed CNS myelination, Peripheral axonal neuropathy, Short s... |
OMIM:619090 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Osteolysis, Anemia |
ORPHA:158014 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Foot dorsiflexor weakness, Distal muscle ... |
OMIM:609260 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Elevated circulating creatine kinase c... |
OMIM:614727 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Abnormality of ... |
ORPHA:3363 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Confusion, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Recurr... |
ORPHA:204 |
Marinesco-Sjogren Syndrome |
|
Cerebellar atrophy, Ataxia, Short stature, Hypergonadotropic hypogonadism, Kyphosis, Progressive ... |
OMIM:248800 |
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency |
|
Truncal ataxia, Limb ataxia, Cognitive impairment, Brain atrophy, Difficulty walking, Cerebellar ... |
ORPHA:363432 |
Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor... |
ORPHA:101010 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Abnormal circulating ... |
OMIM:619795 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Urinary incontinence, Babinski sign, Cerebral atrophy, Frontal lobe dementia, Ax... |
OMIM:221770 |
Adult Krabbe Disease |
|
Urinary incontinence, Progressive neurologic deterioration, Hoffmann sign, Upper limb muscle weak... |
ORPHA:206448 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy, Proximal muscle weakness, Axonal degeneration, Distal sensory impairment, Upper l... |
OMIM:616155 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Osteoporosis, Gout |
OMIM:610947 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... |
OMIM:615268 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Abnormal limb bo... |
ORPHA:2204 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m... |
ORPHA:324964 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased bone den... |
OMIM:136300 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Tongue atrophy, Greater auricular nerve thickening, Distal muscle... |
OMIM:601596 |
Caffey Disease |
|
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase... |
ORPHA:1310 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Distal mu... |
OMIM:214400 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Ataxia, Torticollis, Tr... |
OMIM:607317 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Cerebellar vermis ... |
OMIM:617018 |
Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, External ophthalmoplegia, Tremor, Unsteady gait, Babinski sign, Limb ataxia, ... |
OMIM:615768 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Distal muscle weakness, Facial palsy, Lower limb muscle weakness, Impaired pain sensation, Impair... |
OMIM:607684 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Abnormality of the dentition, Cryptorchidism, Obesity, Hypogonadism,... |
OMIM:615982 |
Forsythe-Wakeling Syndrome |
|
Osteoporosis, Thrombocytopenia |
OMIM:613606 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspondyly, Delayed o... |
OMIM:617974 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Distal muscle weakness, Symmetric peripheral demyelination, Demyelin... |
ORPHA:206594 |
Autosomal Recessive Spastic Paraplegia Type 32 |
|
Progressive spastic paraplegia, Babinski sign, Impaired vibration sensation in the lower limbs, A... |
ORPHA:171622 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Distal muscle weakn... |
OMIM:180800 |
Charcot-Marie-Tooth Disease Type 4G |
|
Impaired vibratory sensation, Peripheral axonal neuropathy, Impaired pain sensation, Proximal mus... |
ORPHA:99953 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Urinary incontinence, Impaired vibration sensation in the lower limbs, Dysmetria, Gait ataxia, Up... |
OMIM:607259 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Distal muscle weakness, Impaired pain sensation, Impaired distal vibration sensation, Babinski si... |
OMIM:618279 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Proximal muscle w... |
ORPHA:98856 |
Progressive Pseudorheumatoid Dysplasia |
|
Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi... |
OMIM:208230 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Progressive neurologic deterioration, Cerebral... |
OMIM:613925 |
Nescav Syndrome |
|
Cerebellar atrophy, Appendicular spasticity, Peripheral axonal neuropathy, Ataxia, Inability to w... |
OMIM:614255 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Kyphoscoliosis, D... |
OMIM:118200 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Urinary incontinence, Dysmetria, Enuresis nocturna, Foot dorsiflexor weakness, Ophthalmoplegia, N... |
ORPHA:171629 |
Myopathy And Diabetes Mellitus |
|
Impaired vibratory sensation, Peripheral axonal neuropathy, Inability to walk, Progressive proxim... |
ORPHA:2596 |
Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Osteolysis, Abnormal tibial metaphysis morphology, Pathol... |
ORPHA:668 |
Oliver-Mcfarlane Syndrome |
|
Hypoplasia of penis, Small for gestational age, Decreased response to growth hormone stimulation ... |
OMIM:275400 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Progressive external ophthalmoplegia, Premature ovarian insufficiency, Parkinsonism, Proximal mus... |
OMIM:609286 |
Ck Syndrome |
|
Hyperlordosis, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Abnormal digit morphology,... |
OMIM:300831 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Confusion, Tremor, Hemiparesis, Hemiplegia |
OMIM:141500 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Hyperleucine-Isoleucinemia |
|
Failure to thrive, Retinal degeneration |
OMIM:238340 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls |
OMIM:615945 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnormal carpal mor... |
ORPHA:93351 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Cerebellar atrophy, Impaired vibratory sensation, Peripheral axonal neuropathy, Resting tremor, A... |
OMIM:617225 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Cataract |
ORPHA:79281 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Confusion, Tremor, Babinski sign, Gait atax... |
OMIM:615362 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Enlarged epiphyses, Abnormal circulating C-reactive protein con... |
ORPHA:1159 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy, Broad-based gait |
OMIM:605388 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Ataxia, Dista... |
OMIM:618387 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, 3-Methylglutaconic aciduria, Cataract |
OMIM:619813 |
Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Thoracic scoliosis, Broad-based gait, Ataxia,... |
OMIM:610185 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... |
OMIM:259450 |
Tenosynovial Giant Cell Tumor |
|
Abnormal hip joint morphology, Joint stiffness, Limitation of joint mobility, Osteolysis, Abnorma... |
ORPHA:66627 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Optic disc pallor, Peripheral axonal neuropathy, Lower limb spasticity, Ataxi... |
OMIM:619389 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Cerebellar atrophy, Mental deterioration, Optic atrophy, Ataxia |
OMIM:614706 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Dysmetria, Ataxia, Clumsiness, My... |
ORPHA:79263 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
Autosomal Spastic Paraplegia Type 58 |
|
Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr... |
ORPHA:397946 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Clonus, Demyelinating motor neuropathy, Abnormal pyramidal sign, Dysmetria, Axial muscle weakness... |
OMIM:616479 |
Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Cerebellar vermis hypoplasia, Urinary incontinence, Abnormal pyramidal sign, Dysmetria, Gait atax... |
ORPHA:98 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Limitation of joint mobility, Osteolysis, Slender long bone, Metacarpal ... |
ORPHA:2774 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Impaired vibratory sensation, Impaired pain sensation, Distal sensory impairment, Distal upper li... |
OMIM:615185 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Lower limb spasticity, Peripheral axonal neuropathy, Lower limb muscle weakness, Impaired distal ... |
OMIM:615035 |
Osteopenia And Sparse Hair |
|
Osteopenia, Joint laxity |
OMIM:259690 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... |
ORPHA:166277 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Foot dorsiflexor weakness, Distal muscle weakness, Segmental peripheral demyelination/remyelinati... |
OMIM:606483 |
Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Abnormal metacarpal mo... |
ORPHA:137834 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... |
OMIM:271530 |
Spinocerebellar Ataxia Type 5 |
|
Cerebellar atrophy, Incoordination, Slurred speech, Gait disturbance |
ORPHA:98766 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Distal muscle weakn... |
OMIM:118220 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Hypercalcemia, Fr... |
OMIM:602080 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Urinary incontinence, Rigidity, Frontotemporal dementia, Babinski sign, Astrocytosis, Gait distur... |
OMIM:600795 |
Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Fractures of the long bones, Osteoporosi... |
ORPHA:319195 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Lower limb muscle weakness, Decreased number of large peripheral myelinated nerve fibers, Distal ... |
OMIM:608340 |
Developmental And Epileptic Encephalopathy 76 |
|
Cerebellar atrophy, Lower limb spasticity, Delayed CNS myelination, Inability to walk, Cerebral a... |
OMIM:618468 |
Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Distal muscle weakness, Postural tremor, Proximal muscle weakness,... |
OMIM:608627 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Spinocerebellar Ataxia 17 |
|
Diffuse cerebral atrophy, Urinary incontinence, Chorea, Dysmetria, Gait ataxia, Gliosis, Intentio... |
OMIM:607136 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Osteoarthritis, Osteolysis, Abnormal diaphysis morphology, Scoliosis, Abnormal... |
ORPHA:1657 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Lower limb spasticity, Tongue atrophy, Hyperlordosis, Progressive muscle weakness, Gowers sign, G... |
OMIM:620285 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Peripheral axonal degeneration, Distal muscle weakness, Foot dorsiflexor weakness, Impaired dista... |
OMIM:614436 |
Null Syndrome |
|
Ataxia, Abnormal cerebellum morphology, Inability to walk, Optic atrophy, CNS hypomyelination, Pr... |
ORPHA:280234 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Broad-based gait, Short stature, Hand tremor, Gait ataxia, Atrophy/Degenerati... |
OMIM:617862 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Impaired distal proprioception, Tremor, Impaired vibration sensation in the lower limbs, Hyperton... |
ORPHA:137898 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Dystonia, Ataxia, Premature ovarian insufficiency, Babinski sign, Hand tremor... |
OMIM:615889 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Distal muscle weakness, Paralysis, Decreased number of large peripheral myelinated nerve fibers, ... |
OMIM:605285 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
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Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Optic atrophy, Spastic tetraplegia, Sco... |
OMIM:617207 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Cone-shaped epiphysis, Platyspondyly, Osteoporosis |
ORPHA:71267 |
Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... |
OMIM:613908 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormality of th... |
ORPHA:543 |
Autosomal Recessive Spastic Paraplegia Type 74 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Babinski sign, Optic atrophy, Difficulty walkin... |
ORPHA:468661 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Proximal muscle weakness, Decreased number of la... |
OMIM:617087 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Cerebellar atrophy, Ataxia, Involuntary movements, Elevated circulating aspartate aminotransferas... |
OMIM:271245 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia, Abnormal salivary gland morphology |
ORPHA:3225 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia |
OMIM:617133 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Cerebellar atrophy, Broad-based gait, Short stature, Babinski sign, Dysmetria, Clumsiness, Progre... |
ORPHA:284332 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Proximal muscle weakness, Axonal degenera... |
OMIM:604484 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased number of peripheral myelinated nerve fibers, Waddling gait, Hypoesthesia, Unsteady gai... |
OMIM:609311 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Gm1 Gangliosidosis |
|
Tremor, Depressed nasal ridge, Abnormal form of the vertebral bodies, Decreased beta-galactosidas... |
ORPHA:354 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Urinary incontinence, Spastic tetrap... |
OMIM:612319 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scol... |
OMIM:234250 |
Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Foot dorsiflexor ... |
OMIM:605588 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Foot dorsif... |
OMIM:118210 |
Spinocerebellar Ataxia 45 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617769 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
X-Linked Progressive Cerebellar Ataxia |
|
Foot dorsiflexor weakness, Unsteady gait, Babinski sign, Limb ataxia, Dysmetria, Spastic dysarthr... |
ORPHA:1175 |
Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, Progressive neurologic deterioration, Atrophy/Degeneration affecting the brai... |
OMIM:616230 |
Dystonia With Cerebellar Atrophy |
|
Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia |
OMIM:611694 |
Spinocerebellar Ataxia 38 |
|
Peripheral axonal neuropathy, Distal muscle weakness, Ataxia, Tremor, Limb ataxia, Gait ataxia, M... |
OMIM:615957 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Distal mu... |
OMIM:606482 |
Galactosemia Ii |
|
Galactosuria, Cataract |
OMIM:230200 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Slurred speech, Clumsiness... |
ORPHA:2386 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy, Inability to walk, Ataxia |
OMIM:619333 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Dystonia, Oculogyric crisis, Tremor, Bilateral ptos... |
ORPHA:330050 |
Leukodystrophy, Hypomyelinating, 21 |
|
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Corpus callosum atrophy, Cryptorchidis... |
OMIM:619310 |
Odontochondrodysplasia 1 |
|
Biconvex vertebral bodies, Short metacarpal, Brachydactyly, Metaphyseal widening, Osteoporosis, F... |
OMIM:184260 |
Spinocerebellar Ataxia Type 30 |
|
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia |
ORPHA:211017 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Finger clinodactyly, Osteoporosis, Coxa valga |
ORPHA:2958 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Urinary incontinence, Spastic tetraparesis, Babinski sign, Loss of ambulation, Gait ataxia, Menta... |
OMIM:249900 |
Ovarian Dysgenesis 1 |
|
Osteoporosis |
OMIM:233300 |
Prieto Syndrome |
|
Clinodactyly, Osteoporosis, Radial deviation of finger, Coxa valga |
OMIM:309610 |
Familial Hyperprolactinemia |
|
Osteopenia, Osteoporosis |
ORPHA:397685 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Osteolysis, Increased suscepti... |
ORPHA:52430 |
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy |
|
Cerebellar atrophy, Scoliosis, Spastic tetraparesis, Brain atrophy |
OMIM:618741 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Joint laxity, Osteoporosis, Scoliosis |
OMIM:616033 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Maffucci Syndrome |
|
Multiple enchondromatosis, Recurrent fractures, Osteolysis, Scoliosis |
ORPHA:163634 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy |
OMIM:136550 |
Keratoderma Hereditarium Mutilans |
|
Osteolysis |
ORPHA:494 |
Cranio-Osteoarthropathy |
|
Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of toes, Deviation of finger... |
ORPHA:1525 |
Spastic Paraplegia Type 7 |
|
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Babinski sign, Optic atrophy,... |
ORPHA:99013 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Onion bulb formation, Distal muscle weakness, Ataxia, Segmental peripheral demyelination/remyelin... |
OMIM:601098 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gai... |
OMIM:614322 |
Adenocarcinoma Of The Esophagus |
|
Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux, Lymphadenopathy |
ORPHA:99976 |
Cone-Rod Dystrophy 7 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy |
OMIM:603649 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Peripheral axonal degeneration, Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Scol... |
OMIM:615157 |
Mast Syndrome |
|
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi... |
OMIM:248900 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Neuropath... |
OMIM:607706 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Truncal ataxia |
OMIM:611726 |
Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia... |
OMIM:607458 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration, Abnormality of the dentition |
OMIM:251700 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Spastic parapleg... |
OMIM:610357 |
Macular Dystrophy, Retinal, 2 |
|
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... |
OMIM:608051 |
L-2-Hydroxyglutaric Aciduria |
|
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Severe demyelination of the white matter, Corpu... |
OMIM:236792 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Cataract, Stage 5 chronic kidney disease |
OMIM:615995 |
Epiphyseal Chondrodysplasia, Miura Type |
|
Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino... |
OMIM:615923 |
Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Peripheral axonal neuropathy, Somatic sensory dysfunction, Steppage gait, Limb muscle weakness, O... |
OMIM:620378 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Hypergonadotropic hypogonadism, Recurrent m... |
OMIM:607426 |
Cach Syndrome |
|
Progressive neurologic deterioration, Dysmetria, Premature ovarian insufficiency, Renal hypoplasi... |
ORPHA:135 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Thick lower lip vermilion |
ORPHA:1221 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Distal sensory im... |
OMIM:607731 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Cerebellar atrophy, Recurrent respiratory infections, Delayed CNS myelination, Appendicular spast... |
OMIM:618324 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Neurodegeneration, Mental deterioration |
OMIM:610951 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Cerebellar atrophy, Short stature, Depressed nasal bridge, Highly arched eyebrow, Spastic tetrapa... |
ORPHA:438178 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Osteoporosis |
OMIM:204730 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Segmental peripheral demyelination/remyelination, Fatiguable weaknes... |
ORPHA:2932 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Cerebellar atrophy, Ataxia, Progressive neurologic deterioration, Kyphosis, Synophrys, Cleft pala... |
ORPHA:85317 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased number of peripheral myelinated nerve fibers, Poor head control, Respiratory insufficie... |
OMIM:618184 |
Macular Dystrophy, Patterned, 3 |
|
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy |
OMIM:617111 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Lower limb... |
OMIM:604360 |
Grant Syndrome |
|
Bowing of the long bones, Decreased skull ossification, Joint hyperflexibility, Abnormal pelvic g... |
ORPHA:2097 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Myo... |
OMIM:600143 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Distal sensory im... |
OMIM:607677 |
Ramon Syndrome |
|
Osteolysis |
ORPHA:3019 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Limitation of joint mobility, Abnormal form of the vertebral bodies, Slender... |
ORPHA:1486 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Distal muscle weakness, Segmental peripheral demyelination/remyelination, Optic atrophy, Decrease... |
OMIM:311070 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Osteoporosis, Recurrent fractures, Reduced bone mineral density |
ORPHA:2410 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Segmental periphe... |
OMIM:607734 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Ataxia, Facial palsy, Proximal muscle weakness, External ophthalmoplegia, Act... |
ORPHA:254886 |
Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Impaired vibration sensation in the lower limbs, Dysmetria, Pontine T2 hypointensity, Progressive... |
OMIM:270550 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Ataxia, Short stature, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesi... |
OMIM:616291 |
Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy, Torticollis, Ophthalmoplegia, Babinski sign, Limb ataxia, Dysmetria, Gait ata... |
ORPHA:276193 |
Idiopathic Hypercalciuria |
|
Osteopenia, Abnormal circulating calcium concentration, Osteoporosis |
ORPHA:2197 |
Spastic Ataxia 5, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Dystonia, Ataxia, Lower limb muscle weakness, Dysmetria, Dysd... |
OMIM:614487 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Ataxia, Kyphoscoliosis, Axonal loss, Difficulty walking, Dystonia, Peripheral demyelination |
OMIM:616684 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Cerebellar atrophy, Poor head control, Cerebral palsy, Hypoplasia of the pons, Cerebral atrophy, ... |
OMIM:618973 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Mental deterioration |
OMIM:616187 |
Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Epicanthus, Short stature, Depressed nasal bridge, Axonal degener... |
OMIM:162100 |
Autosomal Recessive Ataxia, Beauce Type |
|
Urinary incontinence, Dysmetria, Chronic axonal neuropathy, Lower limb muscle weakness, Impaired ... |
ORPHA:88644 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia |
ORPHA:60026 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Distal muscle weakness, Clonus, Proximal muscle weakness, Axonal degeneration, Lacticaciduria, Fa... |
OMIM:618811 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Arts Syndrome |
|
Ataxia, Progressive muscle weakness, Recurrent upper respiratory tract infections, Optic atrophy,... |
OMIM:301835 |
Leukodystrophy, Hypomyelinating, 17 |
|
Cerebellar atrophy, Anteverted nares, Kyphoscoliosis, Inability to walk, Cerebral atrophy, Growth... |
OMIM:618006 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Optic atrophy |
OMIM:165300 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Kyphoscoliosis, S... |
OMIM:604563 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
Sandhoff Disease, Juvenile Form |
|
Cerebellar atrophy, Distal muscle weakness, Ataxia, Incoordination, Reduced beta-hexosaminidase a... |
ORPHA:309162 |
Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy, Gait ataxia |
ORPHA:458798 |
Congenital Disorder Of Glycosylation, Type Iiz |
|
Appendicular spasticity, Poor head control, Diffuse cerebellar atrophy, Clonus |
OMIM:620201 |
Bruck Syndrome |
|
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon... |
ORPHA:2771 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Urinary incontinence, Spastic paraplegia, Impa... |
OMIM:607565 |
Gordon Holmes Syndrome |
|
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Chorea, Cerebral atrophy, Primary amen... |
OMIM:212840 |
Analbuminemia |
|
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... |
OMIM:616000 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Kyphosis, Increased circulating IgE... |
ORPHA:3409 |
Spinocerebellar Ataxia 14 |
|
Cerebellar atrophy, Dysmetria, Gait ataxia, Focal dystonia, Progressive cerebellar ataxia, Attent... |
OMIM:605361 |
Infantile Myofibromatosis |
|
Hypercalcemia, Bone cyst, Limitation of joint mobility, Osteolysis, Abnormal metaphysis morphology |
ORPHA:2591 |
Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... |
OMIM:604326 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar atrophy, Abnormal lateral ventricle morphology, Wide nose, Depressed nasal bridge, Sev... |
ORPHA:488635 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Cerebellar atrophy, Slurred speech, Optic atrophy, Gait ataxia |
OMIM:619323 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... |
OMIM:619902 |
Proteus Syndrome |
|
Kyphoscoliosis, Splenomegaly, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosi... |
OMIM:176920 |
De Sanctis-Cacchione Syndrome |
|
Bilateral cryptorchidism, Axonal degeneration, Scissor gait, Choreoathetosis, Hypertonia, Conjunc... |
OMIM:278800 |
Stargardt Disease 3 |
|
Macular dystrophy, Macular atrophy, Macular flecks |
OMIM:600110 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Progressive external ophthalmoplegia, Bulbar palsy, Distal muscle weakness, Respiratory insuffici... |
ORPHA:254875 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Cerebellar atrophy, Ataxia, Proximal muscle weakness, Unsteady gait, Choreoathetosis, Dementia, M... |
OMIM:301020 |
Retinitis Pigmentosa Inversa With Deafness |
|
Rod-cone dystrophy, Retinitis pigmentosa inversa, External genital hypoplasia |
OMIM:268010 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvic girdle bone ... |
ORPHA:2370 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... |
OMIM:256731 |
Dystonia 23 |
|
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... |
OMIM:614860 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Proximal muscle weakness in upper limbs, Neck flexor weakness, Kyphosis, Gowers si... |
OMIM:618138 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Optic disc pallor, Thoracic scoliosis, Short stature, Prominent nose, Hypopla... |
OMIM:616171 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615267 |
Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Parkinsonism, Kinetic tremor, Olivopontocerebellar hypoplasia, Chorea, Cerebella... |
ORPHA:98756 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Platelet-activating factor acetylhydrolase deficiency |
OMIM:614278 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Lower limb muscle weakness, Urinary incontinence, Ophthalmoplegia, Distal sensory impairment, Upp... |
OMIM:615284 |
Oculopharyngodistal Myopathy |
|
Proximal muscle weakness in upper limbs, Progressive external ophthalmoplegia, Progressive distal... |
ORPHA:98897 |
Spondyloepiphyseal Dysplasia Tarda |
|
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... |
ORPHA:93284 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Peripheral axonal neuropathy, Distal muscle weakness, Decreased number of large peripheral myelin... |
OMIM:608673 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Neck flexor weakness, Impaired distal proprioception, Progressive muscle weakness, Hand tremor, G... |
OMIM:157640 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Anteverted nares, Tremor, Cerebellar gl... |
OMIM:616505 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis, Abnormal for... |
ORPHA:371428 |
Desminopathy |
|
Thoracic kyphoscoliosis, Neck flexor weakness, Spinal rigidity, Respiratory insufficiency due to ... |
ORPHA:98909 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening, Short metatarsal, ... |
OMIM:251450 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... |
ORPHA:90301 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Osteoporosis |
OMIM:619971 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Osteoporosis, Scoliosis |
OMIM:618234 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyly, Scoliosis |
OMIM:126550 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Clumsiness,... |
OMIM:610003 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Kyphosis, Optic atrophy, Dysmetria, Gait ataxia... |
OMIM:610743 |
Mycetoma |
|
Osteomyelitis, Bone cyst, Osteoporosis, Abnormal form of the vertebral bodies, Abnormal forearm b... |
ORPHA:2583 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral axonal neuropathy, Impaired distal proprioception, Paraparesis, Urinary bladder sphinc... |
ORPHA:231445 |
Juvenile Paget Disease |
|
Bowing of the long bones, Recurrent fractures, Cranial hyperostosis, Osteoporosis, Hyperuricemia,... |
ORPHA:2801 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Neutrophilia, Abscess, Elevated circulating C-reactive protein concent... |
OMIM:612852 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615270 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Femoral bowing, Platyspondyly, Thoracic kyphosis, Short 4th metacarpal, Broad t... |
OMIM:619638 |
Macular Dystrophy, Vitelliform, 2 |
|
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid |
OMIM:153700 |
Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Hepatomegaly, Ataxia, Short stature, Anteverted nares, Splenomegaly, Cerebral... |
OMIM:272200 |
Behavioral Variant Of Frontotemporal Dementia |
|
Frontotemporal dementia, Astrocytosis, Frontotemporal cerebral atrophy, Gait disturbance, Fascicu... |
ORPHA:275864 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Lower limb spasticity, Kyphosis, Inability to walk, Babinski sign, Spastic paraplegia, Ankle clon... |
OMIM:611225 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neu... |
OMIM:607250 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Synophrys, ... |
OMIM:616127 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Renal tubular dysfunction, Cataract |
ORPHA:1380 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Short stature, Po... |
ORPHA:1170 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux |
OMIM:608971 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ce... |
ORPHA:521406 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Cerebellar atrophy, Proximal muscle weakness in upper limbs, Lower limb spasticity, Tongue atroph... |
ORPHA:496689 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:600081 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Intentio... |
OMIM:302500 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Steppage gait, Onion bulb formation, Foot dorsiflexor weakness, Distal sensory impairment |
OMIM:616039 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Optic atrophy, Reduced galactocerebrosidase activity, Hypertonia, Neuro... |
OMIM:245200 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Symmetric peripheral demyelination, Progressive neurologic deterioration, Corpus callosum... |
OMIM:169500 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Cerebellar atrophy, Delayed CNS myelination, Poor head control, Ataxia, Clonus, Incoordination, O... |
OMIM:616034 |
Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple... |
ORPHA:98850 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor |
OMIM:618876 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Short stature, Tremor, Inability to walk, A... |
OMIM:614831 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Hypergonadotropic hypogonadism, Urinary incontinence, Tremor, Oculomo... |
OMIM:617145 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy... |
OMIM:144750 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Cerebellar atrophy, Impaired vibratory sensation, Peripheral axonal neuropathy, Torticollis, Lowe... |
OMIM:619686 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures |
ORPHA:85193 |
Hjv Or Hamp-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoporosis, Abno... |
ORPHA:79230 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Dysesthesia, Unsteady gait, Gait ataxia, Acute demyelinating polyneuropathy, Distal lower limb mu... |
ORPHA:98916 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Distal muscle weakness, Axonal degeneration/regeneration, Distal sensory impairment, Steppage gai... |
OMIM:607736 |
Caffey Disease |
|
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... |
OMIM:114000 |
Bardet-Biedl Syndrome 16 |
|
External genital hypoplasia, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal degeneration |
OMIM:615993 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Urinary incontinence, Tremor, Limb-girdle muscle weakness, Tongu... |
ORPHA:466768 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypoplasia of the pons, Impaired proprioception, Hand tremor, Head tremor, Ophthalmoplegia, Gait ... |
ORPHA:412057 |
Rothmund-Thomson Syndrome, Type 1 |
|
Osteoporosis |
OMIM:618625 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebellar atrophy, Delayed CNS myelination, Parkinsonism, Rigidity, Babinski sign, Slurred speec... |
OMIM:300423 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Bowing of the long bo... |
ORPHA:249 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cerebellar atrophy, Broad-based gait, Short stature, Dysmetria, Gait ataxia, Dysdiadochokinesis, ... |
OMIM:224050 |
Osteogenesis Imperfecta, Type Xxi |
|
Recurrent fractures, Bowing of the legs, Coxa valga, Osteoporosis, Coxa vara, Platyspondyly, Scol... |
OMIM:619131 |
Geroderma Osteodysplastica |
|
Beaking of vertebral bodies, Recurrent fractures, Osteoporosis, Hip dislocation, Abnormal form of... |
ORPHA:2078 |
4H Leukodystrophy |
|
Cerebellar atrophy, Dystonia, Ataxia, Decreased response to growth hormone stimulation test, Shor... |
ORPHA:289494 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Cerebellar atrophy, Short stature, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intent... |
OMIM:608029 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Atrial septal defect, Enlarged ovaries, Hypospadias, Ventricular septal defect, Cr... |
ORPHA:2745 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Crumpled long bones, Metaphyseal widening, Osteoporosis, Increased susc... |
ORPHA:2788 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Neuromyelitis Optica Spectrum Disorder |
|
Somatic sensory dysfunction, Functional abnormality of the bladder, Paraplegia, Optic neuritis, N... |
ORPHA:71211 |
Leukodystrophy, Hypomyelinating, 18 |
|
Cerebellar atrophy, Dystonia, Babinski sign, Spastic tetraplegia, Dysmetria, Scoliosis, Atrophy/D... |
OMIM:618404 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Recurrent urinary tract infections, Distal muscle weakness, Ataxia, Broad-based gait, Urinary inc... |
OMIM:609033 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Kyphosis, Osteoporosis, Camptodactyly of finger, Scoliosis |
ORPHA:48431 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Craniosynostosis, Osteoporosis, Joint hyperflexibility, Abnorma... |
ORPHA:1515 |
Osteogenesis Imperfecta, Type Xii |
|
Hyperextensibility of the finger joints, Recurrent fractures, Bowing of the legs, Osteoporosis, S... |
OMIM:613849 |
Periventricular Nodular Heterotopia 8 |
|
Delayed CNS myelination, Cerebellar vermis atrophy, Spasticity |
OMIM:618185 |
Spinocerebellar Ataxia 13 |
|
Cerebellar atrophy, Impaired distal vibration sensation, Optic atrophy, Abnormal pyramidal sign, ... |
OMIM:605259 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Gait ataxia, D... |
ORPHA:90103 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Cerebrotendinous Xanthomatosis |
|
Abnormal eyelid morphology, Axonal degeneration, Progressive psychomotor deterioration, Abnormal ... |
ORPHA:909 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Peripheral axonal neuropathy, Distal muscle weakness, Axonal degeneration, Diaphragmatic paralysi... |
OMIM:620011 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Hip dislocation, Osteolytic defe... |
ORPHA:2484 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Tortuosity of conjunctiva... |
OMIM:613728 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Limit... |
ORPHA:85435 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes... |
ORPHA:98912 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gliosis, Gai... |
OMIM:618369 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... |
OMIM:616948 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Delayed CNS myelination, Diffuse cerebral atrophy, Recurrent upper respiratory tract infections, ... |
ORPHA:352596 |
Charcot-Marie-Tooth Disease Type 4A |
|
Neuropathic spinal arthropathy, Distal muscle weakness, Impaired distal proprioception, Decreased... |
ORPHA:99948 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ... |
ORPHA:100025 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Facial palsy, Pro... |
OMIM:256850 |
Hutchinson-Gilford Progeria Syndrome |
|
Osteolysis, Generalized osteoporosis |
OMIM:176670 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries |
OMIM:184700 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Retroperitoneal fibrosis, Prostatitis, Xerostomia, Enlarged lacrimal glands, Abnorma... |
ORPHA:449432 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Premature ovarian insufficiency, Ataxia, Optic ... |
OMIM:619425 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Cerebellar atrophy, Hepatomegaly, Epicanthus, Ataxia, Anteverted nares, Kyphoscoliosis, Splenomeg... |
OMIM:616354 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Increased neuronal autofluorescent lipopigment, Retinal degeneration |
OMIM:601780 |
Perrault Syndrome 1 |
|
Cerebellar atrophy, Ataxia, Short stature, Increased circulating gonadotropin level, Spastic dipl... |
OMIM:233400 |
Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Joint stiffness, Hyperlordosis, Abnormal form of the vertebral bodies,... |
ORPHA:577 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Short statu... |
OMIM:616756 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Bone marrow hypocellularity, Osteolysis |
ORPHA:391 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Peripheral axonal neuropathy, Dystonia, Abnormal anterior horn cell morphology, Short neck, Pauci... |
OMIM:611890 |
Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Ataxia |
OMIM:613402 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Kyphosis, Osteoarthritis... |
ORPHA:77259 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Cerebral atrophy, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autoflu... |
OMIM:204500 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis, Reduced bone mineral density, Delayed ossification of carpal bones, Short femoral neck,... |
OMIM:618392 |
Microlissencephaly |
|
Cerebellar atrophy, Pneumonia, Cerebral dysmyelination, Hypertonia, Cerebral cortical atrophy |
ORPHA:1083 |
Pontocerebellar Hypoplasia, Type 2D |
|
Cerebellar atrophy, Appendicular spasticity, Clonus, Chorea, Delayed myelination, Spastic tetrapl... |
OMIM:613811 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Congenital Myopathy 10B, Mild Variant |
|
Neck flexor weakness, Hyperlordosis, Proximal muscle weakness, Progressive muscle weakness, Recur... |
OMIM:620249 |
Kimura Disease |
|
Abnormal salivary gland morphology |
ORPHA:482 |
Desmoid Tumor |
|
Limitation of joint mobility, Osteolysis |
ORPHA:873 |
Pachydermoperiostosis |
|
Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Small hand, ... |
ORPHA:2796 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Leukodyst... |
OMIM:617916 |
Retinitis Pigmentosa 31 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t... |
OMIM:226980 |
Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Distal muscle weakness, Kyphoscoliosis, Impaired distal proprioception, Segmental peripheral demy... |
OMIM:601455 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Cerebellar atrophy, Poor head control, Dystonia, Ataxia, Inability to walk, Optic atrophy, Dysmet... |
OMIM:617954 |
Spinocerebellar Ataxia 25 |
|
Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Ataxia, Impaired pain... |
OMIM:608703 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Rigidity, Wide nasal ... |
OMIM:610127 |
Scholte Syndrome |
|
Cerebellar atrophy, Epicanthus, Kyphoscoliosis, Broad nasal tip, Bifid nasal tip, Abnormal pyrami... |
OMIM:300977 |
Laing Early-Onset Distal Myopathy |
|
Distal muscle weakness, Progressive muscle weakness, Proximal muscle weakness in lower limbs, Gai... |
ORPHA:59135 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Elevated circulating creatine kinase concentration... |
OMIM:255800 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Ataxia, Dystonia, Dysme... |
ORPHA:313772 |
Spinocerebellar Ataxia 49 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Babinski sign, Dysmetria, Dysdiadochokinesis, Dementia... |
OMIM:619806 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased number of peripheral myelinated nerve fibers, Foot osteomyelitis, Somatic sensory dysfu... |
OMIM:600882 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Cerebellar atrophy, Kyphosis, Optic atrophy, Spastic tetraplegia, Dystonia, Neonatal death, CNS d... |
OMIM:618237 |
Spastic Ataxia 9, Autosomal Recessive |
|
Distal muscle weakness, Ataxia, Premature ovarian insufficiency, Impaired distal vibration sensat... |
OMIM:618438 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Conjunctival telangiectasia, Ataxia, Short stature, Absent pubertal growth sp... |
OMIM:615919 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Cerebral atrophy, Dysmetria, ... |
OMIM:618088 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Impaired distal proprioception, Gait ataxia, Steppage gait, Intention tremor, Facial palsy, Parki... |
OMIM:258450 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Caudate atrophy, Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Ce... |
OMIM:617435 |
Pelizaeus-Merzbacher Disease |
|
Writer's cramp, Tremor, Sudanophilic leukodystrophy, Abnormal pyramidal sign, Choreoathetosis, In... |
OMIM:312080 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Distal muscle weakness, Segmental peripheral demyelination/remyelination, Distal sensory impairme... |
OMIM:607791 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Hip subluxation, Scoliosis, Reduced bone mineral density |
OMIM:620200 |
Warburg Micro Syndrome 1 |
|
Overlapping toe, Osteoporosis, Joint hypermobility, Kyphoscoliosis |
OMIM:600118 |
Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Dementia, Gliosis, Neuronal loss... |
OMIM:143100 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Peripheral axonal neuropathy, Distal muscle weakness, Impaired distal vibration sensation, Steppa... |
OMIM:610100 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy |
OMIM:608850 |
Leukodystrophy, Hypomyelinating, 14 |
|
Cerebellar atrophy, Cerebral atrophy, Growth delay, Dystonia, Spasticity |
OMIM:617899 |
Bardet-Biedl Syndrome 21 |
|
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Abnormality ... |
OMIM:617406 |
L-2-Hydroxyglutaric Aciduria |
|
Aplasia/Hypoplasia of the cerebellum, Infectious encephalitis, Spastic tetraparesis, Abnormality ... |
ORPHA:79314 |
Spastic Ataxia 2, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral... |
OMIM:611302 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Cerebellar atrophy, Corpus callosum atrophy, Impaired distal vibration sensation, Optic atrophy, ... |
OMIM:616680 |
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Dystonia, Ataxia, Dysesthesia, Head titubation, Abnormal pyramidal sign, Cere... |
ORPHA:527497 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Cerebellar atrophy, Kyphoscoliosis, Generalized muscle weakness, Facial diplegia, Tip-toe gait, D... |
ORPHA:370980 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Decreased liver ... |
ORPHA:512260 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Variant Abeta2M Amyloidosis |
|
Multiple bony cystic lesions, Intestinal perforation, Abnormality of the tongue, Pathologic fract... |
ORPHA:314652 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Dystonia, Postural tremor, Loss of Purkinje cells in the cerebellar vermis, C... |
ORPHA:98755 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Lumbar hyperlordosis, Camptodactyly of finger, Knee osteoarthritis, Bone cyst, Osteoporosis, Coxa... |
ORPHA:2848 |
Brooke-Spiegler Syndrome |
|
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Facial palsy, Sali... |
ORPHA:79493 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Vertebral compr... |
OMIM:617952 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent lipopigme... |
OMIM:204200 |
Hengel-Maroofian-Schols Syndrome |
|
Cerebellar atrophy, Epicanthus, Short stature, Inability to walk, Synophrys, Upper motor neuron d... |
OMIM:619641 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Genu valgum |
OMIM:614880 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
|
Cerebellar atrophy, Optic disc pallor, External ophthalmoplegia, Inability to walk, Optic atrophy... |
OMIM:617086 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Ataxia, Short stature, Tremor, Unsteady gait, Dysmetria... |
OMIM:213200 |
Short Stature, Dauber-Argente Type |
|
Osteopenia, Long toe, Arachnodactyly, Decreased fibular diameter, Long fingers, Reduced bone mine... |
OMIM:619489 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Cerebellar atrophy, Ataxia, Low alkaline phosphatase, Sparse lateral eyebrow |
OMIM:618879 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Duchenne Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness, Progressive muscle weakness, Cognitive impairment, Scoli... |
ORPHA:98896 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, U... |
OMIM:616108 |
Harel-Yoon Syndrome |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Inability to walk, Optic atrophy, Upsla... |
OMIM:617183 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol... |
OMIM:614856 |
Legg-Calvé-Perthes Disease |
|
Cartilage destruction, Short stature, Abnormality of the dentition |
ORPHA:2380 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300554 |
Spastic Ataxia 3, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Neurogenic bladder, Dystonia, Ataxia, Dysmetria, Gait ataxia,... |
OMIM:611390 |
Sialidosis Type 2 |
|
Splenomegaly, Kyphosis, Flexion contracture, Osteoporosis |
ORPHA:87876 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Prominent nasal bridge, Kyphoscoliosis, Progressive... |
OMIM:214150 |
Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration |
OMIM:180020 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... |
ORPHA:101110 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Distal muscle weakness, Proximal muscle weakness, Distal sensory impairment, Gait disturbance, Pe... |
ORPHA:99944 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... |
OMIM:259600 |
Alg6-Cdg |
|
Failure to thrive, Jaundice, Decreased LDL cholesterol concentration, Macroglossia, Abnormality o... |
ORPHA:79320 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Abnormal circulating calcium concentr... |
OMIM:241530 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre... |
ORPHA:248111 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures... |
OMIM:156510 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Cerebellar atrophy, Rigidity, Inability to walk, Delayed myelination, Optic atrophy, Athetosis, G... |
OMIM:618241 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Somatic sensory dysfunction, Distal muscle weakness, Decreased number of large peripheral myelina... |
OMIM:615376 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Cerebral cortical neurodegeneration, Hyp... |
OMIM:203700 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Cerebellar atrophy, Progressive external ophthalmoplegia, Elevated hepatic transaminase, Facial p... |
OMIM:610131 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Progressive muscle weakness, Osteomyelit... |
OMIM:256810 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Cerebellar atrophy, Hypertonia, Spastic tetraplegia, Cerebral atrophy |
OMIM:618730 |
Cerebral Visual Impairment |
|
Optic disc pallor, Short attention span, Cerebral palsy, Optic nerve hypoplasia, Optic atrophy, U... |
ORPHA:447788 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Dystonia, Ataxia, Short stature, Postural tremor, Hypogonadotropic hypogonadi... |
OMIM:607694 |
Cockayne Syndrome Type 3 |
|
Mild postnatal growth retardation, Progressive neurologic deterioration, Intention tremor, Hepato... |
ORPHA:90324 |
Pseudopseudohypoparathyroidism |
|
Short metacarpal, Osteoporosis, Short metatarsal, Brachydactyly |
OMIM:612463 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Distal muscle weakness, Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia,... |
OMIM:616719 |
Pontocerebellar Hypoplasia, Type 3 |
|
Cerebellar atrophy, Optic disc pallor, Poor head control, Short stature, Depressed nasal bridge, ... |
OMIM:608027 |
Spinocerebellar Ataxia 5 |
|
Cerebellar atrophy, Impaired vibratory sensation, Poor head control, Incoordination, Ataxia, Broa... |
OMIM:600224 |
Charcot-Marie-Tooth Disease Type 1F |
|
Urinary incontinence, Demyelinating motor neuropathy, Impaired proprioception, Hand tremor, Gait ... |
ORPHA:101085 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Ventricular septal defect, Precocious puberty, Long penis, Furrowed tongue, Nep... |
ORPHA:769 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Anteverted nares, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait a... |
OMIM:617810 |
Metachromatic Leukodystrophy |
|
Bulbar palsy, Ataxia, Urinary incontinence, Reduced leukocyte arylsulfatase A activity, Chorea, B... |
OMIM:250100 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Alexander Disease |
|
Ataxia, Facial palsy, Clonus, Short neck, Hyperlordosis, Kyphosis, Chorea, Tremor, Abnormal pyram... |
ORPHA:58 |
Spinocerebellar Ataxia 42 |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Urinary incontinence, Tremor, Loss of Purkinje cells ... |
OMIM:616795 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Reduced xanthine dehydrogenase level, Opisthotonus, Axonal loss, Gliosis, Decreased urinary sulfa... |
OMIM:252150 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Peripheral axonal neuropathy, Demyelinating peripheral neuropathy, Tremor, Inability to walk, Sho... |
OMIM:218000 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Hyperlipidemia, Osteoporosis |
ORPHA:369 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Urinary incontinence, Tremor, Chorea, Babinski sign, Dy... |
OMIM:618093 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Xerostomia, Enlarged lacrimal glands, Weight loss, Enlargement of parot... |
ORPHA:79078 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Progressive distal muscle weakness, Respiratory insufficiency due to muscle weakness, Limb-girdle... |
ORPHA:399058 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Rigidity, Dysmetria,... |
OMIM:618090 |
Tbck-Related Intellectual Disability Syndrome |
|
Epicanthus, Thick eyebrow, Neurogenic bladder, Eczema, Decreased response to growth hormone stimu... |
ORPHA:488632 |
Developmental And Epileptic Encephalopathy 37 |
|
Cerebellar atrophy, Rigidity, Chorea, Cerebral atrophy, Cogwheel rigidity, Choreoathetosis, Hyper... |
OMIM:616981 |
Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... |
OMIM:607346 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Splenomegaly, Osteoporosis |
ORPHA:79301 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Short attention span, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impai... |
OMIM:619028 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Ataxia, Truncal titubation, Kyphosis, Axonal degeneration, Impaired vibration sens... |
ORPHA:88628 |
Hypercholanemia, Familial, 2 |
|
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Cerebellar atrophy, Waddling gait, Short stature, Bulbous nose, Babinski sign, Spastic dysarthria... |
ORPHA:280763 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Spinocerebellar Ataxia 28 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Babinski sign, Limb ataxia, Gait a... |
OMIM:610246 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Ataxia, Proximal muscle weakness, Tremor, Abnormal pyramidal sign, Myoclonus,... |
OMIM:612016 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Parastremmatic Dwarfism |
|
Severe short stature, Short neck, Kyphosis, Flexion contracture, Scoliosis |
OMIM:168400 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Epicanthus, Telecanthus, Short stature, Anteverted nares, Aga... |
ORPHA:847 |
Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Somatic sensory dysfunction, Ataxia, Severe parainfluenza infection, Disseminate... |
ORPHA:83597 |
Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Limitation of joint... |
ORPHA:2619 |
Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Writer's ... |
ORPHA:98759 |
New-Onset Refractory Status Epilepticus |
|
Cerebellar edema, Confusion, Cognitive impairment, Infectious encephalitis, Global brain atrophy |
ORPHA:363558 |
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Limb dystonia, Torticollis, Head titubation, Abnormal pyramidal sign, Limb at... |
OMIM:617560 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Caudate atrophy, Ataxia, Aplasia/Hypoplasia of the cerebellar vermis, Prominent nose, Partial abs... |
ORPHA:137831 |
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Progressive truncal ataxia, Optic disc pallor, Broad-based gait, Short stature, Babinski sign, Ab... |
ORPHA:363429 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Lumbar hyperlordosis, Short femur, Limited elbow movement, Kyphosi... |
ORPHA:94068 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... |
OMIM:619126 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Cerebellar atrophy, Oculogyric crisis, Inability to walk, Chorea, Cerebral atrophy, Hyperkinetic ... |
OMIM:614254 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Myopathy, Scapulohumeroperoneal |
|
Neck flexor weakness, Facial palsy, Hyperlordosis, Progressive muscle weakness, Wrist drop, Scoli... |
OMIM:616852 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Abnormal astrocyte morphology, Abnormal circulating enzyme concentration or a... |
ORPHA:168486 |
Autosomal Recessive Spastic Paraplegia Type 78 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Dystonia, Neurogenic bladder, Babinski sign, Ab... |
ORPHA:513436 |
Japanese Encephalitis |
|
Tremor, Opisthotonus, Choreoathetosis, Hypertonia, Respiratory paralysis, Meningitis, Infectious ... |
ORPHA:79139 |
Triosephosphate Isomerase Deficiency |
|
Optic disc pallor, Dystonia, Respiratory insufficiency due to muscle weakness, Kyphosis, Jaundice... |
OMIM:615512 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Cerebellar atrophy, Epicanthus, Ataxia, Elevated circulating aspartate aminotransferase concentra... |
OMIM:611182 |
Autosomal Recessive Centronuclear Myopathy |
|
Waddling gait, Facial palsy, Hyperlordosis, Gowers sign, Progressive muscle weakness, Ophthalmopl... |
ORPHA:169186 |
Hepatic Adenomas, Familial |
|
Hepatocellular adenoma, Polycystic ovaries |
OMIM:142330 |
Morm Syndrome |
|
Truncal obesity, Micropenis, Retinal atrophy, Retinal dystrophy |
ORPHA:75858 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Inability to walk, Unsteady gait, Spastic tetraple... |
ORPHA:1947 |
Cantu Syndrome |
|
Broad hallux, Ovoid vertebral bodies, Short hallux, Coxa valga, Metaphyseal widening, Cuboid-shap... |
OMIM:239850 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign, Sensory axonal ne... |
OMIM:617770 |
Indolent Systemic Mastocytosis |
|
Splenomegaly, Osteoporosis, Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast... |
ORPHA:98848 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Cerebellar atrophy, Recurrent respiratory infections, Short stature, Short neck, Cerebral atrophy... |
ORPHA:320385 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Cerebellar atrophy, Delayed CNS myelination, Poor head control, Dystonia, Involuntary movements, ... |
OMIM:617493 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ... |
OMIM:619862 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Delayed CNS myelination, Choanal atresia, Prominent nasal bridge, Cerebral at... |
OMIM:615095 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... |
ORPHA:157941 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Segmental peripheral demyelination/remyelination, Hypoesthesia, Vocal cord paralysis, Hand parest... |
OMIM:162500 |
Infantile Refsum Disease |
|
Hepatomegaly, Ataxia, Facial palsy, Short stature, Progressive muscle weakness, Optic atrophy, Sp... |
ORPHA:772 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Confusion, Herpes simplex encephalitis, Hemiparesis, Gliosis, Mental deterioration, Meningitis |
OMIM:613002 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia |
OMIM:615705 |
Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Ataxia, Postural tremor, Action tremor, Chorea, Myoclonus, Head tremor, Aprax... |
OMIM:620158 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Felty Syndrome |
|
Thrombocytopenia, Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis, Arthritis, B... |
ORPHA:47612 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Somatic sensory dysfunction, Optic atrophy, Spasticity, Gait ataxia, Hepat... |
ORPHA:466794 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Cerebellar atrophy, Optic atrophy, Wide nasal bridge, Cerebral atrophy, Thin eyebrow |
OMIM:619690 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Bifid scrotum, Clonus, High, narrow palate, Synophrys, Abnormal curvature of the verte... |
OMIM:619475 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Generalized muscle weakness, Optic atrophy, Abnormal pyramidal sign, ... |
OMIM:256600 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly... |
ORPHA:100026 |
Distal Anoctaminopathy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Progressive muscle weakness, Progressive ... |
ORPHA:399096 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Ataxia, Portal hypertension, Cerebral dysmyelination, Cryptorchidism, Hepatosplenomegaly, Myoclon... |
OMIM:609136 |
Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Optic atrophy, Babinski sign, Dysmetria, Gait ... |
OMIM:210000 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Cerebellar atrophy, Ataxia, Ophthalmoplegia, Babinski sign, Cerebral atrophy, Dysmetria, Axonal l... |
OMIM:618170 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac... |
OMIM:259420 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... |
OMIM:143200 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Optic nerve hypoplasia, Cryptorchidism, Optic a... |
ORPHA:496790 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Cerebellar atrophy, Short stature, Proteinuria, Minimal change glomerulonephritis, Stage 5 chroni... |
OMIM:301006 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612287 |
Spinocerebellar Ataxia Type 42 |
|
Cerebellar atrophy, Resting tremor, Psoriasiform dermatitis, Urinary incontinence, Upper limb pos... |
ORPHA:458803 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:264700 |
Pontocerebellar Hypoplasia, Type 1D |
|
Cerebellar atrophy, Recurrent respiratory infections, Epicanthus, Poor head control, Short neck, ... |
OMIM:618065 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Hypospadias, Cryptorchidism, Growth delay, 3-Methylglutaconic aciduria, Intrauterin... |
ORPHA:1194 |
Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... |
OMIM:604432 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Cerebellar atrophy, Vertebral fusion, Facial palsy, Hyperlordosis, Proximal muscle weakness, Kyph... |
OMIM:606612 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Slurred speech, Limb a... |
ORPHA:284289 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Cerebellar atrophy, Hepatomegaly, Dystonia, Ataxia, Ophthalmoplegia, Babinski sign, Optic atrophy... |
OMIM:618226 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Cerebellar atrophy |
OMIM:617643 |
Crigler-Najjar Syndrome |
|
Jaundice, Ophthalmoparesis, Abnormality of the liver, Cognitive impairment, Memory impairment, In... |
ORPHA:205 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Hoffmann sign, Impaired proprioception, Dysmetria, Loss of ambulation, Intention tremor, Impaired... |
OMIM:615491 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... |
ORPHA:157798 |
Machado-Joseph Disease |
|
Gliosis, Urinary bladder sphincter dysfunction, Impaired vibratory sensation, Ataxia, Parkinsonis... |
OMIM:109150 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Short stature, Kyphoscoliosis, Abnormal cerebellum mor... |
OMIM:275900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Dilated fourth ventricle, Torticollis, Foot dorsiflexor weakness, Ataxia, Babinski sign, Choreoat... |
OMIM:619054 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive |
|
Cerebellar atrophy |
OMIM:615596 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di... |
ORPHA:98764 |
Cog7-Cdg |
|
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Short neck, Postnatal growth ret... |
ORPHA:79333 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Proximal muscle weakness, Tremor, Abnormal pyramidal sign, Progressive cerebe... |
ORPHA:139485 |
Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Short stature... |
ORPHA:251347 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Distal muscle weakness, Impaired distal proprioception, Impaired distal vibra... |
OMIM:617633 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hyperlordosis, Gowers sign, Progressive muscle weakness, Depressed nasal ridge, Growth delay, Hig... |
OMIM:600462 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Increased neuronal autofluorescent lipopigment, Optic atrophy, Cerebral atrophy, Macular degenera... |
OMIM:256730 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Gastric varix, Cirrhosis, Hepatocellular carcinoma |
OMIM:613490 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Disproportionate short stature,... |
ORPHA:40 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Increased circulating lactate dehydrogenase concentration, Frequent falls, Bilateral ptosis, Limb... |
ORPHA:254361 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Dystonia, Ataxia, Short stature, Delayed peripheral myelina... |
ORPHA:464282 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Ataxia, Proximal muscle weakness, Progressive muscle weakness, Mental deterioration, Loss of ambu... |
OMIM:620166 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... |
OMIM:615386 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Diffuse cerebral atrophy, Molybdenum cofactor deficiency, Xanthine nephrolithiasis, Increased uri... |
OMIM:252160 |
Tay-Sachs Disease |
|
Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Aspiration pneumonia, Progressive spasticity, L... |
ORPHA:845 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Clinodactyly, Osteoporosis |
OMIM:614838 |
Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Premature ovarian insufficiency, Po... |
OMIM:300623 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Osteoporosis, Camptodactyly |
OMIM:616006 |
Adrenomyeloneuropathy |
|
Peripheral axonal degeneration, Back pain, Urinary incontinence, Axonal degeneration, Urinary bla... |
ORPHA:139399 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Absent eyebrow, Demyelinating sensory neuropathy, Absent eyelashes, Demyelinating motor neuropath... |
OMIM:182815 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
Spinocerebellar Ataxia 2 |
|
Urinary incontinence, Dysmetria, Urinary bladder sphincter dysfunction, Impaired vibratory sensat... |
OMIM:183090 |
X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Slurred s... |
ORPHA:93952 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Diffuse cerebral atrophy, Urinary incontinence, Synophrys, Gliosis, Tongue fasciculations, Ataxia... |
OMIM:617193 |
Congenital Disorder Of Glycosylation, Type Iin |
|
Cerebellar atrophy, Poor head control, Short stature, Inability to walk, Cerebral atrophy, Recurr... |
OMIM:616721 |
Machado-Joseph Disease Type 3 |
|
Substantia nigra gliosis, Vocal cord paralysis, Abnormal pyramidal sign, Progressive gait ataxia,... |
ORPHA:276244 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Menkes Disease |
|
Joint laxity, Decreased circulating ceruloplasmin concentration, Metaphyseal spurs, Metaphyseal w... |
OMIM:309400 |
Cln5 Disease |
|
Cerebellar atrophy, Abnormal central motor function, Ataxia, Corpus callosum atrophy, Atrophy/Deg... |
ORPHA:228360 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Developmental And Epileptic Encephalopathy 44 |
|
Cerebellar atrophy, Delayed CNS myelination, Short stature, Cerebral atrophy, Athetosis, Dystonia... |
OMIM:617132 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Bardet-Biedl Syndrome 2 |
|
External genital hypoplasia, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal degeneration |
OMIM:615981 |
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies |
|
Cerebellar atrophy, Epicanthus, Bulbar palsy, Ataxia, Short stature, Torticollis, Anteverted nare... |
OMIM:618547 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:277440 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Clitoral hypertrophy, Overgrowth of external genitalia, Labial hy... |
ORPHA:508 |
Darier-White Disease |
|
Enlargement of parotid gland |
OMIM:124200 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Peripheral axonal neuro... |
OMIM:615490 |
Typhoid |
|
Hepatomegaly, Skin rash, Ataxia, Epistaxis, Tremor, Splenomegaly, Hypertonia, Infectious encephal... |
ORPHA:99745 |
Aicardi-Goutieres Syndrome 4 |
|
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Cerebral atrophy, ... |
OMIM:610333 |
Pontocerebellar Hypoplasia, Type 6 |
|
Cerebellar atrophy, Appendicular spasticity, Poor head control, Cerebellar vermis hypoplasia, Low... |
OMIM:611523 |
Peho-Like Syndrome |
|
Cerebellar atrophy, Epicanthus, Optic atrophy, Myoclonus, Short nose |
OMIM:617507 |
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
|
Delayed CNS myelination, Highly arched eyebrow, Spastic tetraparesis, Cerebral atrophy, Growth de... |
OMIM:616154 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Pontocerebellar Hypoplasia, Type 1E |
|
Cerebellar atrophy, Hypoplasia of the pons, Optic atrophy, Cerebellar hypoplasia, Myoclonus |
OMIM:619303 |
Cone-Rod Dystrophy 11 |
|
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy |
OMIM:610381 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig... |
ORPHA:284324 |
Cog5-Cdg |
|
Cerebellar atrophy, Hepatomegaly, Diffuse cerebral atrophy, Elevated hepatic transaminase, Short ... |
ORPHA:263487 |
Aminoacylase 1 Deficiency |
|
Cerebellar atrophy, Delayed CNS myelination, Wide nasal bridge, Cerebral atrophy, Cerebral cortic... |
OMIM:609924 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Cerebellar atrophy, Recurrent respiratory infections, Ataxia, Prominent nasal bridge, Babinski si... |
OMIM:618356 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Hip dislocation, ... |
OMIM:616507 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Distal muscle weakness, Distal sensory impairment, Axonal loss, Peripheral hypomyelination, Gait ... |
OMIM:611228 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Geroderma Osteodysplasticum |
|
Osteopenia, Beaking of vertebral bodies, Hyperextensibility of the finger joints, Recurrent fract... |
OMIM:231070 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Cerebellar atrophy, Epicanthus, Delayed CNS myelination, Ataxia, Involuntary movements, Dystonia,... |
OMIM:617804 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Vertebral wedging, Plat... |
OMIM:610967 |
Spinocerebellar Ataxia 1 |
|
Chorea, Impaired proprioception, Dysmetria, Spinocerebellar atrophy, Urinary bladder sphincter dy... |
OMIM:164400 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612286 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
High palate, Delayed CNS myelination, Ataxia, Clumsiness, Myoclonus, Ptosis, Inability to walk, D... |
OMIM:617854 |
Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cognitive impairment, Ocu... |
ORPHA:208513 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,... |
OMIM:616188 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Distal muscle weakness, Facial palsy, Proximal muscle weakness, Irregular myelin loops, Distal se... |
OMIM:601382 |
Peroxisome Biogenesis Disorder 6B |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Impaired distal vibration sensation, Un... |
OMIM:614871 |
Filippi Syndrome |
|
Cerebellar atrophy, Underdeveloped nasal alae, Postnatal growth retardation, Cryptorchidism, Opti... |
OMIM:272440 |
Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... |
OMIM:239000 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Peripheral axonal neuropathy, Distal muscle weakness, Ataxia, Short stature, Premature ovarian in... |
OMIM:618124 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Splenic rupture, Volvulus, Left ventricular hypertrophy, Micropenis, De... |
ORPHA:335 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Optic disc pallor, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ata... |
OMIM:616204 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Cerebellar atrophy, Epicanthus, Delayed CNS myelination, Hypospadias, Prominent nasal bridge, Cry... |
OMIM:618659 |
Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Psychomotor deterioration, Peripheral axonal neuropathy, Short attention span... |
ORPHA:35069 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Abnormal fingertip morphology, Hyperlipidemia, Osteolysis, Osteolytic defects of the ... |
ORPHA:90154 |
Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolysis, Rib osteo... |
OMIM:614008 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... |
ORPHA:91348 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Anteverted nares, Broad nasal tip, Tremor, Optic atrophy, Dysmetria, Gait ata... |
ORPHA:529665 |
Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy... |
ORPHA:71517 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Dacryocystitis, Unusual CNS infection, Bronchiect... |
ORPHA:1163 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Acute demyelinating polyneuropathy, Arthritis, Abnormal optic... |
ORPHA:448237 |
Leukodystrophy, Hypomyelinating, 15 |
|
Cerebellar atrophy, Severe short stature, Ataxia, Optic atrophy, Abnormal pyramidal sign, Cerebra... |
OMIM:617951 |
Intermediate Osteopetrosis |
|
Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical sclerosis, ... |
ORPHA:210110 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Cerebellar atrophy, Limb dystonia, Delayed CNS myelination, Short stature, Cerebral atrophy, Clef... |
OMIM:620269 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Osteomalacia, Joint stiffness, Coxa valga, Avascular necrosis of the capital femoral ... |
ORPHA:1901 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Arachnodactyly, Kyphoscoliosis, Limitation of joint mobility, Osteoporosis, Hyperhomocystinemia, ... |
OMIM:236200 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Lissencephaly 4 |
|
Short stature, Babinski sign, Wide nasal bridge, Growth delay, Colpocephaly, Hypertonia, Cerebell... |
OMIM:614019 |
Best Vitelliform Macular Dystrophy |
|
Choroideremia, Cystoid macular degeneration |
ORPHA:1243 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cu... |
OMIM:619073 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Short stature, Hypogonadotropic hypogonadism, Tremor, Optic atrophy, ... |
OMIM:614381 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Cerebellar atrophy, Ataxia, Kyphosis, Synophrys, Unsteady gait, Scoliosis |
OMIM:300861 |
Folinic Acid-Responsive Seizures |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Spastic tetraparesis, Chorea, Delayed myelination, ... |
ORPHA:79097 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... |
OMIM:607634 |
Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Ataxia, Short stature, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Leuk... |
OMIM:612438 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Peroneal muscle weakness, Proximal muscle weakness, Hyperlordosis, Progressive muscle weakness, G... |
OMIM:611588 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... |
ORPHA:198 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79240 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Cerebellar atrophy, Progressive external ophthalmoplegia, Broad-based gait, Ataxia, Neck flexor w... |
OMIM:618098 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Tremor, Gowers sign, Chorea, Hepatic steatosis, Waddling gait, Hepatomegaly, Ataxia, Short statur... |
OMIM:615356 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Synophrys, High palate, Hepatomegaly, Ataxia, Thoracolumbar scoliosis, Short stature, Hyperlordos... |
OMIM:618443 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Hypermanganesemia With Dystonia 2 |
|
Progressive neurologic deterioration, Tremor, Scissor gait, Opisthotonus, Limb dystonia, Parkinso... |
OMIM:617013 |
Distal Myopathy With Anterior Tibial Onset |
|
Somatic sensory dysfunction, Tibialis muscle weakness, Limb-girdle muscle weakness, Progressive p... |
ORPHA:178400 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Inability to walk, Wide nasal bridge, Astrocytosis, Nephrocalcinosis, Difficulty walking |
OMIM:611087 |
Leukodystrophy, Hypomyelinating, 5 |
|
Lower limb muscle weakness, Truncal titubation, Abnormal cerebellum morphology, Babinski sign, Ab... |
OMIM:610532 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Confusion, Herpes simplex encephalitis, Hemiparesis, Mental deterioration, Meningitis |
OMIM:617900 |
Christianson Syndrome |
|
Cerebellar atrophy, Dystonia, Abnormality of the nose, Ophthalmoplegia, Gait ataxia, Truncal atax... |
ORPHA:85278 |
Morgagni-Stewart-Morel Syndrome |
|
Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna, Hyperuricemia, Hypercholesterolemia |
ORPHA:77296 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Hereditary Methemoglobinemia |
|
Cerebellar atrophy, Delayed myelination, Temporal cortical atrophy, Spastic tetraplegia, Spastici... |
ORPHA:621 |
Kaya-Barakat-Masson Syndrome |
|
Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, CNS hypomyelination, Scoliosis, Limb d... |
OMIM:619125 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Flexion contracture, Flattened epiphy... |
ORPHA:157965 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Progressive Myoclonic Epilepsy Type 3 |
|
Cerebellar atrophy, Progressive truncal ataxia, Optic atrophy, Progressive psychomotor deteriorat... |
ORPHA:263516 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Delayed CNS myelination, Ataxia, Tremor, Bifid nasal tip, Optic atrophy, Wide nasal bridge, High ... |
OMIM:300983 |
Dent Disease 1 |
|
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300009 |
Poliomyelitis |
|
Bulbar palsy, Confusion, Lower limb muscle weakness, Paralysis, Inability to walk, Paraparesis, U... |
ORPHA:2912 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Legionnaires Disease |
|
Pericarditis, Renal insufficiency, Ataxia, Proteinuria, Recurrent pharyngitis, Myocarditis, Splen... |
ORPHA:549 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Postnatal growth retardation, Abnormal renal corticomedullary differentiation, Intrauterine growt... |
OMIM:616733 |
Deafness, Dystonia, And Cerebral Hypomyelination |
|
Cerebellar atrophy, Optic atrophy, Abnormal pyramidal sign, Cerebral atrophy, Tetraplegia, Dyston... |
OMIM:300475 |
Liang-Wang Syndrome |
|
Cerebellar atrophy, Ataxia, Synophrys, Wide nasal bridge, Cerebral atrophy, Macroglossia, Dystoni... |
OMIM:618729 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Flexion contracture, Limitation of joint mobility, Osteolysis, Osteolytic defects... |
ORPHA:90153 |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Osteopenia |
OMIM:615266 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Macrocytic anemia, Pancytopenia, Hypomethioninemia, Osteoporosis, Hyperhomocystinemia... |
ORPHA:2169 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Proteinuria, Enlarged polycystic ovaries, Biliary cirrhosis, Polycystic ovaries... |
ORPHA:2298 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Cerebellar atrophy, Broad eyebrow, Synophrys, Wide nasal bridge, Narrow palpebral fissure, Muscle... |
OMIM:618302 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Fractu... |
ORPHA:464329 |
Rhyns Syndrome |
|
Osteopenia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bone morphology, Smal... |
ORPHA:140976 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Malabsorption, Lymphadenopathy |
ORPHA:42642 |
Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Ovoid vertebral bodies, Hyperlordosis, Epiphyseal deformities of tubular bones, Kyp... |
OMIM:253000 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Pain insensitivity, Ataxia, Impaired distal proprioception, Cerebellar vermis atrophy, Impaired v... |
ORPHA:94124 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration |
OMIM:602271 |
Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short toe, Osteoporosis, Short metatarsal, Subcutaneous ossification, Hyperphos... |
OMIM:103580 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Epiphyseal deform... |
OMIM:253010 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Optic disc pallor, Os odontoideum, Delayed CNS myelination, Ataxia, Short sta... |
OMIM:619260 |
Mucolipidosis Iv |
|
Cerebellar atrophy, Cerebral dysmyelination, Progressive neurologic deterioration, Dysplastic cor... |
OMIM:252650 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Myositis, Facial palsy, Hyperlordosis, Protruding tongue, Intercostal muscle weakness, Inability ... |
ORPHA:258 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers, Hypergonadotropic hypogonadism, Impaired ... |
OMIM:607080 |
Rhyns Syndrome |
|
Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly |
OMIM:602152 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Dysmenorrhea, Progressive muscle weakness, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Sho... |
ORPHA:264580 |
Combined Oxidative Phosphorylation Defect Type 7 |
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Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Thoracic sc... |
ORPHA:254930 |
Infantile Cerebellar-Retinal Degeneration |
|
Cerebellar atrophy, Ataxia, Optic atrophy, Athetosis, Cerebral cortical atrophy, Demyelinating pe... |
OMIM:614559 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
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Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma |
ORPHA:231736 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Short stature, Female infertility, Progressive muscle weakness, ... |
OMIM:619518 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Br... |
ORPHA:329284 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Hallux valgus, Thoracic scoliosis, Facet joint arthrosis, Osteoarthritis, Osteoporosi... |
OMIM:618000 |
Amoebiasis Due To Free-Living Amoebae |
|
Unusual skin infection, Abnormal medulla oblongata morphology, Ataxia, Facial palsy, Sinusitis, P... |
ORPHA:68 |
Neuropathy, Hereditary Sensory, Type Ie |
|
Decreased number of peripheral myelinated nerve fibers, Osteomyelitis, Ataxia, Distal muscle weak... |
OMIM:614116 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
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Peripheral axonal degeneration, Distal muscle weakness, Urinary incontinence, Axonal degeneration... |
OMIM:604320 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
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Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Neurodevelopmental Disorder With Dystonia And Seizures |
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Cerebellar atrophy, Chorea, Spastic tetraplegia, Athetosis, Cerebellar hypoplasia, Dystonia, Intr... |
OMIM:619922 |
Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc, Osteoporosis |
OMIM:601979 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... |
OMIM:613731 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Cerebellar atrophy, Delayed CNS myelination, Clonus, Spastic tetraparesis, Inability to walk, Opt... |
OMIM:617481 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Cerebellar atrophy, Elevated urinary 4-hydroxybutyric acid, Delayed CNS myelination, Ataxia, Incr... |
OMIM:271980 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Nodular goit... |
ORPHA:97290 |
Sandhoff Disease |
|
Recurrent respiratory infections, Hepatomegaly, Ataxia, Splenomegaly, Kyphosis, Progressive psych... |
ORPHA:796 |
Isolated Atp Synthase Deficiency |
|
Cerebellar atrophy, Hepatomegaly, Ataxia, Short stature, Ophthalmoplegia, Spastic paraplegia, Opt... |
ORPHA:254913 |
Diffuse Cutaneous Systemic Sclerosis |
|
Narrow foramen obturatorium, Arthritis, Flexion contracture, Osteolysis |
ORPHA:220393 |
Spinocerebellar Ataxia 21 |
|
Cerebellar atrophy, Delayed CNS myelination, Ataxia, Parkinsonism, Postural tremor, Akinesia, Lim... |
OMIM:607454 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Distal muscle weakness, Proteinuria, Stage 5 chronic kidney disease, Distal sensory impairment, F... |
OMIM:614455 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Posterior embryotoxon, I... |
ORPHA:1473 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... |
OMIM:166260 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Nodular goit... |
ORPHA:319487 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Optic disc pallor, Abnormal circulating enzyme concentration or activity, Poo... |
ORPHA:79264 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome, High palate... |
OMIM:269920 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Kyphosis, Bone cyst, Flexion contractu... |
ORPHA:3042 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Waddling gait, Lower limb spasticity, Bulbar palsy, Broad-based gait, Hyperlordosis, Kyphosis, Go... |
OMIM:615290 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Prune1-Related Neurological Syndrome |
|
Cerebellar atrophy, Clonus, Spastic tetraparesis, Inability to walk, Delayed myelination, Optic a... |
ORPHA:544469 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Cerebellar atrophy, Ataxia, Short stature, Prominent nasal bridge, Prominent nose, Inability to w... |
OMIM:619576 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Dilated fourth ventricle, Poor head control, Cerebellar vermis hypoplasia, At... |
ORPHA:572798 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia, Kyphosis, Osteoporosis, Scoliosis, Joint contracture |
OMIM:615381 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... |
ORPHA:423275 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia |
ORPHA:858 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Facial palsy, Writer's cramp, Hyperlordosi... |
OMIM:128100 |
Cln3 Disease |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Acne, Ataxia, Optic atrophy, Loss of ambula... |
ORPHA:228346 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... |
ORPHA:289157 |
Tyrosinemia Type 1 |
|
Splenomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly |
ORPHA:882 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Osteopenia, Slender long bones with narrow diaphyses, Dense metaphyseal bands |
ORPHA:50811 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... |
OMIM:602433 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Vertebral wedgi... |
OMIM:301014 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Cerebellar atrophy, Spastic ataxia, Peripheral axonal neuropathy, Hypoparathyroidism, Spastic tet... |
ORPHA:496756 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Mepan Syndrome |
|
Cerebellar atrophy, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Optic atrophy, Cranio... |
ORPHA:508093 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebellar atrophy, Optic disc pallor, Cerebral palsy, Ataxia, Wide nasal ridge, Bulbous nose, Ba... |
OMIM:612936 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Spasticity |
OMIM:616494 |
Pai Syndrome |
|
Median cleft lip, Depressed nasal bridge, Nasal polyposis, Cleft palate, Abnormal oral frenulum m... |
ORPHA:1993 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Kyphoscoliosis, Tremor, Inability to walk, Optic atrophy, Horseshoe kidney, C... |
OMIM:617664 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Distal muscle weakness, Sparse eyelashes, Depressed na... |
OMIM:617988 |
Mannosidosis, Alpha B, Lysosomal |
|
Increased vertebral height, Abnormal pyramidal sign, Depressed nasal ridge, Gait ataxia, Gliosis,... |
OMIM:248500 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Progressive distal muscle weakness, Progressive proximal muscle weakness, Clumsiness, Distal sens... |
ORPHA:399086 |
Nephronophthisis 15 |
|
Obesity, Retinal degeneration |
OMIM:614845 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Ankylosis, Osteolysis |
ORPHA:659 |
Spinocerebellar Ataxia 32 |
|
Cerebellar atrophy, Ataxia, Azoospermia, Infertility, Cognitive impairment, Testicular atrophy |
OMIM:613909 |
Leukodystrophy, Hypomyelinating, 20 |
|
Cerebellar atrophy, Torticollis, Babinski sign, Spastic tetraplegia, Hypertonia, Scoliosis, Dysto... |
OMIM:619071 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology, Cryptorchidism, Acut... |
ORPHA:281090 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Abnormal lower motor neuron morphology, Distal muscle weakness, Ataxia, Parki... |
OMIM:614298 |
Machado-Joseph Disease Type 1 |
|
Cerebellar atrophy, Dilated fourth ventricle, Progressive external ophthalmoplegia, Substantia ni... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Cerebellar atrophy, Dilated fourth ventricle, Progressive external ophthalmoplegia, Substantia ni... |
ORPHA:276241 |
Myopathy With Extrapyramidal Signs |
|
Clonus, Short neck, Tremor, Gowers sign, Chorea, Choreoathetosis, Cerebellar dysplasia, Hepatomeg... |
OMIM:615673 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Vocal cord paralysis, Tongue fasciculations, Bulbar palsy, Ataxia, Facial palsy, External ophthal... |
OMIM:211530 |
Perlman Syndrome |
|
Hepatomegaly, Epicanthus, Hypoplasia of penis, Anteverted nares, Cryptorchidism, High, narrow pal... |
ORPHA:2849 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Ophthalmoplegia, Spastic paraplegia, Optic a... |
ORPHA:98673 |
Spinocerebellar Ataxia 34 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Abnormal pyramidal sign, Limb ataxia, G... |
OMIM:133190 |
Short Stature, Brussels Type |
|
Delayed epiphyseal ossification, Calcification of cartilage |
ORPHA:2867 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration |
OMIM:614292 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Coxa valga, Splenomegaly, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis... |
OMIM:230600 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Delayed CNS myelination, Ataxia, Tremor, Optic atro... |
OMIM:617710 |
Warburg Micro Syndrome 4 |
|
Cerebellar atrophy, Decreased testicular size, Small scrotum, Short stature, Anteverted nares, Pr... |
OMIM:615663 |
Lethal Congenital Contracture Syndrome 8 |
|
Vocal cord paralysis, Distal sensory impairment, Facial diplegia, Peripheral hypomyelination, Neo... |
OMIM:616287 |
Tangier Disease |
|
Hepatomegaly, Peripheral axonal neuropathy, Impaired pain sensation, Impaired temperature sensati... |
OMIM:205400 |
Charcot-Marie-Tooth Disease Type 4C |
|
Gait ataxia, Tongue fasciculations, Head tremor, Foot dorsiflexor weakness, Impaired distal vibra... |
ORPHA:99949 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Chronic kidney disease, Stage 5 chronic kidney dis... |
ORPHA:3156 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:352403 |
Lethal Congenital Contracture Syndrome 7 |
|
Cerebellar atrophy, Facial diplegia, Cerebral atrophy, Paralysis |
OMIM:616286 |
Aceruloplasminemia |
|
Tremor, Chorea, Gait ataxia, Hepatic fibrosis, Elevated hepatic iron concentration, Ataxia, Parki... |
ORPHA:48818 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Recurrent fractures, Down-sloping shoulders, Tapered finger, Abnormal thumb... |
ORPHA:1452 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormality of the liver, Hypertonia, Hepatomegaly, Portal hypertension, Micronodular cirrhosis, ... |
ORPHA:309854 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Developmental And Epileptic Encephalopathy 98 |
|
Cerebellar atrophy, Attention deficit hyperactivity disorder, Cerebral atrophy |
OMIM:619605 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Osteoporosis |
OMIM:610628 |
Spondylo-Ocular Syndrome |
|
Thoracic kyphosis, Platyspondyly, Osteoporosis, Joint hyperflexibility |
ORPHA:85194 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cerebellar atrophy, Cryptorchidism, Chorea, Inability to walk, Cerebral atrophy, Gait ataxia, Dys... |
OMIM:618917 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Distal muscle weakness, Upper limb muscle weakness, Peripheral hypomyelination, Onion bulb format... |
OMIM:605253 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Macular atrophy, Retinal degeneration |
OMIM:267760 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Cerebellar vermis hypoplasia, Short neck, Glossoptosis, Vertebral segmentatio... |
OMIM:611209 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Progressive proximal muscle weakness, Chorea, Cerebral atrophy, Hyperkinetic movements, Scoliosis... |
ORPHA:369847 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Limb dystonia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral... |
OMIM:601104 |
Leigh Syndrome |
|
Progressive neurologic deterioration, Chorea, Choreoathetosis, Gliosis, Complex organic aciduria,... |
ORPHA:506 |
Neurofibroma |
|
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Abnorma... |
ORPHA:252183 |
Ruijs-Aalfs Syndrome |
|
Thoracic kyphoscoliosis, Down-sloping shoulders, Elbow flexion contracture, Osteoporosis, Clinoda... |
OMIM:616200 |
Spinocerebellar Ataxia Type 32 |
|
Cerebellar atrophy, Male infertility, Progressive cerebellar ataxia, Azoospermia, Cognitive impai... |
ORPHA:276183 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Spastic tetraparesis, External ophthalmoplegia, Ba... |
OMIM:615838 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... |
OMIM:121300 |
Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Short stature, Depressed nasal bridge, Hypospadias, Tremor, Cryptorchidism, Kyphosis, Bulbous nos... |
OMIM:300354 |
Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Distal Myotilinopathy |
|
Progressive proximal muscle weakness, Loss of ability to walk in first decade, Progressive distal... |
ORPHA:98911 |
Takenouchi-Kosaki Syndrome |
|
Synophrys, Ataxia, Hypospadias, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Wide nasal... |
OMIM:616737 |
Immunodeficiency 12 |
|
Abnormal lymphocyte count, Clubbing, Osteoporosis, Absent isohemagglutinin level, Complete or nea... |
OMIM:615468 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Colitis, Hemophagocytosis, Thrombocyto... |
OMIM:613101 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Localized osteoporosis, Cervical spondylosis, Kyphoscoliosis |
ORPHA:199354 |
19P13.3 Microduplication Syndrome |
|
Kyphoscoliosis, Long fingers, Osteoporosis, Hip dislocation, Hip dysplasia, Clinodactyly, Hip sub... |
ORPHA:447980 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Nasal polyposis, Median cleft lip, High palate, Bifid uvula |
OMIM:155145 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Cerebellar atrophy, Neuropathic spinal arthropathy, Progressive external ophthalmoplegia, Hypergo... |
OMIM:615084 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Osteoporosis, Short metatarsal, Hyperphosphatemia, Hypocalcemia, Hypocalcemic t... |
OMIM:612462 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Hepatomegaly, Recurrent pharyngitis, Fulminant hepatitis, Splen... |
OMIM:308240 |
Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Short stature, Kyphosis, Obesity, Oligodontia, Everted lower lip vermilion, Scoliosis, Anodontia |
ORPHA:276630 |
Focal Cortical Dysplasia, Type Ii |
|
Hemiparesis, Cognitive impairment, Astrocytosis |
OMIM:607341 |
Cofs Syndrome |
|
Short stature, Short neck, Abnormal nasal morphology, Optic atrophy, Wide nasal bridge, Hypertoni... |
ORPHA:1466 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Short stature, Absent pubertal growth spurt, Gait ataxia, Neurodegeneration |
ORPHA:438134 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Cerebellar atrophy, Conjunctival telangiectasia, Peripheral axonal neuropathy, Distal muscle weak... |
OMIM:606002 |
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Cerebellar atrophy, Increased urine alpha-ketoglutarate concentration, Increased urine succinate ... |
OMIM:618384 |
Thrombocytopenia 6 |
|
Myelofibrosis, Osteoporosis, Thrombocytopenia |
OMIM:616937 |
Listeriosis |
|
Back pain, Liver abscess, Tremor, Conjunctivitis, Cholecystitis, Meningitis, Infectious encephali... |
ORPHA:533 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Cataract |
OMIM:613801 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Peripheral demyelination, Dystonia |
OMIM:250850 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Cerebellar atrophy, Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Synophrys, C... |
OMIM:619286 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Epicanthus, Cerebral palsy, Short stature, Eczema, Highly arched eyebrow, Anteverted nares, Bilat... |
ORPHA:352490 |
Whipple Disease |
|
Hepatomegaly, Pericarditis, Myositis, Ataxia, Malabsorption, Myocarditis, Splenomegaly, Abnormal ... |
ORPHA:3452 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Calcific stippling of infantile cartilaginous skeleton, Severe short stature, Rhizomelia, Kyphosc... |
OMIM:215100 |
Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Osteoporosis, Hypocholesterolemia |
OMIM:266510 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
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Poor head control, Ataxia, Inability to walk, Short nose, Dysmetria, Upslanted palpebral fissure,... |
OMIM:618087 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype... |
ORPHA:64743 |
Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy, Incoordination, Urinary incontinence, Babinski sign, Abnormal pyramidal sign,... |
OMIM:603516 |
Spinocerebellar Ataxia 36 |
|
Cerebellar atrophy, Tongue atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait atax... |
OMIM:614153 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Kyphosis, Abnormal form of the vertebral bodies, Increase... |
ORPHA:2769 |
Premature Aging Syndrome, Okamoto Type |
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Osteoporosis |
OMIM:601811 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Kyphoscoliosis, P... |
OMIM:607831 |
Lyme Disease |
|
Uveitis, Arthritis, Paresthesia, Memory impairment, Meningitis, Infectious encephalitis, Muscle w... |
ORPHA:91546 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Developmental And Epileptic Encephalopathy 28 |
|
Anteverted nares, Optic atrophy, Cerebral atrophy, Long philtrum, Retinal degeneration |
OMIM:616211 |
Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Decreased liver function, Oculomoto... |
OMIM:614867 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
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Cerebellar atrophy, Kyphosis, Cryptorchidism, Cerebral atrophy, Scoliosis, Long palpebral fissure... |
OMIM:619797 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Cerebellar atrophy, Poor head control, Depressed nasal bridge, Inability to walk, Short nose, Vol... |
OMIM:617802 |
Gm1-Gangliosidosis, Type Iii |
|
Diffuse cerebral atrophy, Dystonia, Ataxia, Short stature, Kyphosis, Slurred speech, Platyspondyl... |
OMIM:230650 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Parkinsonism, Frontotemporal dementia, Temporal cortical ... |
ORPHA:100070 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Srd5A3-Cdg |
|
Cerebellar atrophy, Elevated hepatic transaminase, Ataxia, Decreased response to growth hormone s... |
ORPHA:324737 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
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Cerebellar atrophy, Epicanthus, Anteverted nares, Spastic tetraparesis, Short nose |
OMIM:618506 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Abnormal i... |
ORPHA:397596 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Delayed CNS myelination, Optic neuropathy, Axonal degeneration, Optic atrophy... |
OMIM:616811 |
Ophthalmoplegia, External, And Myopia |
|
Retinal degeneration, Chorioretinal degeneration |
OMIM:311000 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Cerebellar atrophy, Elevated hepatic transaminase, Epicanthus, Delayed CNS myelination, Ataxia, D... |
OMIM:615471 |
Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Somatic sensory dysfunction, Dysmetria, Gait at... |
ORPHA:98771 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Proximal muscle weakness, Optic atrophy, CNS hypomyelination, Focal segmental... |
OMIM:616239 |
Peho Syndrome |
|
Cerebellar atrophy, Epicanthus, Optic atrophy, Myoclonus, Peripheral dysmyelination, Short nose, ... |
OMIM:260565 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Short stature, Kyphosis, Tongue fasciculations, Narrow mouth, Failure to thrive |
OMIM:620007 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Spinocerebellar Ataxia 47 |
|
Ataxia, Short stature, Chorea, Wide nasal bridge, Dysmetria, High palate, Spasticity, Cerebellar ... |
OMIM:617931 |
Niemann-Pick Disease, Type A |
|
Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Osteoporosis, Sea-blue histiocytosis |
OMIM:257200 |
Galloway-Mowat Syndrome 6 |
|
Cerebellar atrophy, Epicanthus, Short stature, Decreased response to growth hormone stimulation t... |
OMIM:618347 |
Congenital Disorder Of Glycosylation, Type Il |
|
Cerebellar atrophy, Hepatomegaly, Delayed CNS myelination, Depressed nasal bridge, Short neck, Ky... |
OMIM:608776 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Cerebellar vermis hypoplasia, Short neck, Tremor, High, narrow palate, Synophrys, Prominent protr... |
OMIM:300966 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Cerebellar atrophy, Poor head control, Short stature, Prominent nasal bridge, Cerebral atrophy, M... |
OMIM:619060 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... |
ORPHA:83469 |
Kniest Dysplasia |
|
Hip contracture, Tracheomalacia, Dumbbell-shaped long bone, Delayed epiphyseal ossification, Limi... |
OMIM:156550 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
Multifocal Motor Neuropathy |
|
Progressive muscle weakness, Limb muscle weakness, Progressive distal muscle weakness, Fasciculat... |
ORPHA:641 |
Sapho Syndrome |
|
Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Craniofacial osteoscler... |
ORPHA:793 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Spinocerebellar Ataxia Type 19/22 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Urinary incontinence, Ophthalmoplegia, Poor coordin... |
ORPHA:98772 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Abnormal pyramidal sign, Tetraplegia,... |
ORPHA:369939 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... |
OMIM:609813 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Cataract, Corneal ero... |
OMIM:203780 |
Dpm1-Cdg |
|
Cerebellar atrophy, Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Depre... |
ORPHA:79322 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Nipah Virus Disease |
|
Tremor, Recurrent pharyngitis, Infectious encephalitis, Myoclonus |
ORPHA:99825 |
Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Recurrent respiratory infections, Ataxia, Splenomegaly, Unsteady gait, Gait d... |
ORPHA:2585 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Wide anterior fontanel, Abnormal cortic... |
OMIM:614886 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Esophageal varix, Portal hypertension, Hepatomegaly |
OMIM:617068 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Short stature, Hypergonadotropic hypogonadism, Hyperlordosis, Kyphosis, Crypt... |
ORPHA:3085 |
Lipoid Proteinosis |
|
Nasal polyposis, Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip ver... |
ORPHA:530 |
Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Gait ataxia, Spinocerebellar atrophy, ... |
OMIM:215470 |
Bethlem Myopathy |
|
Waddling gait, Reduced maximal expiratory pressure, Lumbar hyperlordosis, Distal muscle weakness,... |
ORPHA:610 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Cerebellar atrophy, Ataxia, Inability to walk, Gait ataxia, High palate |
OMIM:617915 |
Propionic Acidemia |
|
Pancytopenia, Osteoporosis, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Thrombocytopenia |
OMIM:606054 |
Familial Isolated Hyperparathyroidism |
|
Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia |
ORPHA:99879 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Limb ... |
OMIM:117360 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... |
ORPHA:231222 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Azoosper... |
OMIM:235200 |
Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Impaired vibration sensation in the lower limbs, Babin... |
OMIM:159550 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Villous atro... |
OMIM:209920 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Bicornuate uterus, Ureterovesical stenosis |
OMIM:268650 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Renal hypoplasia,... |
OMIM:616589 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Chromomycosis |
|
Ankylosis, Osteolysis |
ORPHA:182 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Small for gestational age, Kyphosis, Short stature |
ORPHA:85288 |
Lipoyltransferase 1 Deficiency |
|
Cerebellar atrophy, Elevated hepatic transaminase, Delayed CNS myelination, Spastic tetraparesis,... |
OMIM:616299 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro... |
OMIM:603552 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Cerebellar vermis atrophy |
OMIM:618501 |
Pontocerebellar Hypoplasia, Type 1B |
|
Cerebellar atrophy, Poor head control, Tongue atrophy, Cerebral atrophy, Growth delay, Tongue fas... |
OMIM:614678 |
Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... |
ORPHA:101112 |
Developmental And Epileptic Encephalopathy 51 |
|
Cerebellar atrophy, Delayed CNS myelination, Poor head control, Supernumerary nipple, Corpus call... |
OMIM:617339 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Short thumb, Osteoporosis, Increased mean corpuscular volume, Scol... |
OMIM:612562 |
Neurocutaneous Melanocytosis |
|
Hemiparesis, Chiari malformation, Aplasia/Hypoplasia of the cerebellum, Infectious encephalitis, ... |
ORPHA:2481 |
Mevalonic Aciduria |
|
Cerebellar atrophy, Optic disc pallor, Elevated hepatic transaminase, Agenesis of cerebellar verm... |
OMIM:610377 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
Coxoauricular Syndrome |
|
Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Reduced bone ... |
ORPHA:1508 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia |
OMIM:613313 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Cataract, Iris coloboma |
OMIM:120433 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Spinocerebellar Ataxia 27B, Late-Onset |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia |
OMIM:620174 |
Al Amyloidosis |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Xerostomia, Weight loss, Macroglossi... |
ORPHA:85443 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Incontinentia Pigmenti |
|
Skin rash, Short stature, Supernumerary nipple, Keratitis, Hemiplegia/hemiparesis, Uveitis, Gait ... |
ORPHA:464 |
Amish Nemaline Myopathy |
|
Respiratory insufficiency due to muscle weakness, Progressive muscle weakness, Tremor |
ORPHA:98902 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata |
OMIM:193230 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Cuboid... |
ORPHA:1517 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures, Scoliosis |
OMIM:615066 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Cerebellar atrophy, Dystonia, Choreoathetosis, Progressive spastic quadriplegia, Decreased activi... |
ORPHA:431361 |
Ovarian Dysgenesis 8 |
|
Osteoporosis |
OMIM:618187 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Elevated circulating uroporphyrin concent... |
OMIM:263700 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Cardiomegaly |
ORPHA:88643 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Thoracic scoliosis, Short femur, Bowing of the long bones, Generalized ... |
OMIM:613848 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity |
ORPHA:90654 |
Developmental And Epileptic Encephalopathy 67 |
|
Cerebellar atrophy, Athetosis, Gait disturbance, Dystonia |
OMIM:618141 |
Trimethylaminuria |
|
Splenomegaly, Neutropenia, Anemia, Trimethylaminuria |
OMIM:602079 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Prominent nasal tip, Epicanthus, Thick eyebrow, Short stature, Cerebral palsy, Highly arched eyeb... |
OMIM:615834 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Skin rash, Ataxia, Splenomegaly, Jaundice, Tetrapleg... |
OMIM:603553 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Progressive muscle weakness, Difficulty walking |
OMIM:619024 |
Distal Nebulin Myopathy |
|
Neck flexor weakness, Progressive distal muscle weakness, Progressive proximal muscle weakness, H... |
ORPHA:399103 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Cerebellar atrophy, Short stature, Atrophy of the spinal cord, Babinski sign, Cerebral atrophy, G... |
ORPHA:445062 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Lower limb spasticity, Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Gowers sign, Prox... |
OMIM:617404 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria, Cataract |
ORPHA:2278 |
Superficial Siderosis |
|
Back pain, Impaired temperature sensation, Functional abnormality of the bladder, Abnormal pyrami... |
ORPHA:247245 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis |
ORPHA:172 |
Dk1-Cdg |
|
Elevated hepatic transaminase, Progressive muscle weakness, Short stature, Abnormal circulating e... |
ORPHA:91131 |
Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Spasticity, Scoliosis, Palatal tremor |
ORPHA:363717 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
Cockayne Syndrome A |
|
Abnormal peripheral myelination, Prominent nose, Tremor, Micropenis, Hepatomegaly, Ataxia, Short ... |
OMIM:216400 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Severe short stature, Open bite, Cryptorchidism, Kyphosis, Carious teeth, Congenital pyloric atre... |
ORPHA:2617 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un... |
OMIM:609270 |
Pontocerebellar Hypoplasia, Type 2E |
|
Cerebellar atrophy, Epicanthus, Wide nose, Short stature, Optic atrophy, Spastic tetraplegia, Cer... |
OMIM:615851 |
Alg1-Cdg |
|
Cerebellar atrophy, Renal insufficiency, Kyphosis, Cerebral atrophy, Recurrent infections, Nephro... |
ORPHA:79327 |
Adenylosuccinase Deficiency |
|
Cerebellar atrophy, Anteverted nares, Inability to walk, Cerebral atrophy, CNS hypomyelination, G... |
OMIM:103050 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Growth delay, Hypertonia, Hyperkinetic ... |
OMIM:619738 |
Xp21 Deletion Syndrome |
|
Joint laxity, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Osteoporo... |
ORPHA:261476 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Cerebellar atrophy, Dystonia, Clonus, Urinary incontinence, Babinski sign, Optic atrophy, Progres... |
OMIM:618868 |
Hartnup Disease |
|
Glossitis, Abnormal urinary color, Skin rash, Ataxia, Short stature, Malabsorption, Infectious en... |
ORPHA:2116 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Cerebellar atrophy, Ataxia, Optic nerve hypoplasia, Dysmetria, Gait ataxia, Attention deficit hyp... |
OMIM:614306 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s... |
OMIM:608709 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Splenomegaly, Hypogonadism, Cardiomyopathy, Hepatomegaly |
OMIM:608540 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Epicanthus, Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Bulbous nose, Optic atrophy, Sp... |
OMIM:618476 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy |
OMIM:180104 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Cerebellar vermis hypoplasia, Tremor, Dysmetria, Renal cyst, Hepatic fibrosis, H... |
OMIM:212065 |
Developmental And Epileptic Encephalopathy 95 |
|
Cerebellar atrophy, Hepatomegaly, Delayed CNS myelination, Ataxia, Highly arched eyebrow, Hypopla... |
OMIM:618143 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Delayed myelination, Axonal degeneration, Poor coordination, Neurodegeneration,... |
ORPHA:478029 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Intestinal perforation, Tubulointerstitial nephritis, Gastroesophageal reflux, Nephropathy, Decre... |
ORPHA:85450 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal vertebral mor... |
ORPHA:93352 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Meningitis, Infectious encepha... |
ORPHA:36234 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Retinitis Pigmentosa 84 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma |
OMIM:618220 |
Nasu-Hakola Disease |
|
Bone cyst, Limitation of joint mobility, Acute leukemia, Reduced bone mineral density, Abnormal e... |
ORPHA:2770 |
Macular Dystrophy, Vitelliform, 3 |
|
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... |
OMIM:608161 |
Preeclampsia |
|
Helicobacter pylori infection, Proteinuria, Chronic kidney disease, Polycystic ovaries, Abnormali... |
ORPHA:275555 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Pyloric stenosis |
ORPHA:664 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Clinodactyly of the 5th finger, Clinodactyly, Osteoporosis, Neonatal hyperbilirubinemia |
ORPHA:73272 |
Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Liver abscess, Arachnodactyly, Osteolysis |
ORPHA:678 |
Immunoneurologic Disorder, X-Linked |
|
Neonatal death, Progressive proximal muscle weakness, Spastic paraplegia, Functional abnormality ... |
OMIM:300076 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Kyphosis, Osteoporosis |
OMIM:219080 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Renal insufficiency, Ketonuria, Ataxia, Severe demyelination of the white matter, Hemolytic-uremi... |
ORPHA:79282 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hyperextensibility of the finger joints, Hip contracture, Severe short stature, Thoracolumbar sco... |
OMIM:313420 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Cerebellar atrophy, Neuropathic spinal arthropathy, Progressive external ophthalmoplegia, Hypergo... |
ORPHA:352447 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki... |
OMIM:300894 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Bowing of the long bones, Recurrent fractures, Camptod... |
ORPHA:3206 |
Developmental And Epileptic Encephalopathy 89 |
|
Cerebellar atrophy, Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Sparse eyebr... |
OMIM:619124 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal widening, Irre... |
OMIM:271640 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Limitation of joint mobility, Osteoporosis, Clubbing, Osteolytic defects of the phala... |
OMIM:259100 |
H Syndrome |
|
Hallux valgus, Hypertriglyceridemia, Recurrent fractures, Microcytic anemia, Osteolysis, Hepatosp... |
ORPHA:168569 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
East Syndrome |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Renal salt wasting, Renal magnesium was... |
ORPHA:199343 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Joint stiffness, Splenomegaly, Osteolysis, Arthritis, Leukopenia |
ORPHA:809 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... |
OMIM:307200 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Kyphosis, Osteoporosis |
OMIM:610475 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... |
OMIM:602450 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Eosinophilia, Abnormality of the tes... |
ORPHA:400 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Familial Dysautonomia |
|
Hyponatremia, Recurrent fractures, Osteolysis, Scoliosis |
ORPHA:1764 |
Peroxisome Biogenesis Disorder 11B |
|
Progressive muscle weakness, Muscle weakness, Hepatosplenomegaly |
OMIM:614885 |
Oxoglutaric Aciduria |
|
Abnormality of Krebs cycle metabolism, Abnormal salivary gland morphology, Short stature |
ORPHA:31 |
Rafiq Syndrome |
|
Wide nose, Underdeveloped nasolabial fold, Ataxia, Short stature, Highly arched eyebrow, Long eye... |
OMIM:614202 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Brachydactyly, Bowing of the long bones, Recurrent fractures, Hypoplastic 5th lumbar ... |
ORPHA:955 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Short stature, Camptodactyly |
OMIM:618453 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Hypoplasia of the pons, High, narrow palate, High palate, Micropenis, Short stature, Depressed na... |
OMIM:612513 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Cerebral atrophy, Dysmetria, Titubation, Incre... |
OMIM:619405 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Distal muscle weakness, Abnormal peripheral myelination, Abnormality of female exte... |
ORPHA:168563 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
Classic Galactosemia |
|
Abnormal erythrocyte enzyme level, Osteoporosis, Reduced bone mineral density |
ORPHA:79239 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Neurogenic bladder, Dystonia, Ataxia, Urinary incontinence, Sparse eyebrow, R... |
ORPHA:496641 |
Arthrogryposis, Distal, Type 2A |
|
Cerebellar atrophy, Recurrent respiratory infections, Epicanthus, Telecanthus, Kyphoscoliosis, Sh... |
OMIM:193700 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cy... |
OMIM:617100 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... |
ORPHA:90796 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Cerebellar atrophy, Highly arched eyebrow, Bilateral ptosis, Partial absence of cerebellar vermis... |
ORPHA:329224 |
Episodic Ataxia Type 1 |
|
Cerebellar atrophy, Kyphoscoliosis, Poor coordination, Clumsiness, Choreoathetosis, Hypertonia, T... |
ORPHA:37612 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy... |
OMIM:602390 |
Cone-Rod Dystrophy 13 |
|
Cone/cone-rod dystrophy, Macular degeneration |
OMIM:608194 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Cerebellar atrophy, Inability to walk, Optic atrophy, Recurrent infections, 3-Methylglutaconic ac... |
OMIM:614739 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... |
OMIM:256550 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Hypoplasia of the pons, Oromotor apraxia, Hemiparesis, Lateral ventricle dila... |
ORPHA:300573 |
Borjeson-Forssman-Lehmann Syndrome |
|
Short stature, Kyphosis, Cryptorchidism, Cervical spinal canal stenosis, Hypoplasia of the prosta... |
OMIM:301900 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Anosmia, Obesi... |
OMIM:615994 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Rickets |
OMIM:560000 |
Scrub Typhus |
|
Anterior uveitis, Renal insufficiency, Skin rash, Tremor, Myocarditis, Splenomegaly, Meningitis, ... |
ORPHA:83317 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... |
ORPHA:2176 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Absent foveal reflex, Decreased retinol-binding protein level, Retinal dystrophy, Peripheral reti... |
OMIM:615147 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla... |
ORPHA:785 |
Myopathy, Myofibrillar, 4 |
|
Progressive muscle weakness, Progressive proximal muscle weakness, Progressive distal muscle weak... |
OMIM:609452 |
Cdkl5-Deficiency Disorder |
|
Poor head control, Impaired pain sensation, Kyphosis, Synophrys, Growth delay, Gait disturbance, ... |
ORPHA:505652 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Joint stiffness, Splenomegaly, Reduced bone mineral density, Decreased circulating t... |
OMIM:620210 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral axonal neuropathy, Somatic sensory dysfunction, Scoliosis, Peripheral dysmyelination, ... |
ORPHA:101082 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Thoracic scoliosis, Kyphosis, Achilles tendon contracture, Osteoporosis, Scolios... |
OMIM:620351 |
Xp22.3 Microdeletion Syndrome |
|
Ectopic anus, Hypogonadotropic hypogonadism, Polycystic ovaries |
ORPHA:1643 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... |
OMIM:604391 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Osteoporosis |
OMIM:615830 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy |
OMIM:618261 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Oral ulcer, We... |
ORPHA:50918 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria |
OMIM:230350 |
Stuve-Wiedemann Syndrome 1 |
|
Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phalanx of finger, Os... |
OMIM:601559 |
Spinocerebellar Ataxia Type 10 |
|
Cerebellar atrophy, Lower limb spasticity, Kinetic tremor, Unsteady gait, Babinski sign, Dysmetri... |
ORPHA:98761 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Peripheral axonal neuropathy, Foot dorsiflexor weakness, Distal mu... |
ORPHA:298 |
Congenital Disorder Of Glycosylation, Type Id |
|
Cerebellar atrophy, Epicanthus, Villous atrophy, Depressed nasal bridge, Spastic tetraparesis, Bu... |
OMIM:601110 |
Spinocerebellar Ataxia Type 13 |
|
Cerebellar atrophy, Optic disc pallor, Torticollis, Short stature, Urinary incontinence, Impaired... |
ORPHA:98768 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor, Megaloblastic anemia |
OMIM:243320 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Tremor, Progressive muscle weakness |
OMIM:605355 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Polycystic ovaries |
ORPHA:488191 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Aminoaciduria, Hepatomegaly |
ORPHA:417 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Shashi-Pena Syndrome |
|
Short metacarpal, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion |
OMIM:617190 |
Episodic Ataxia, Type 6 |
|
Cerebellar atrophy, Slurred speech, Hemiparesis, Cerebellar hypoplasia, Truncal ataxia, Episodic ... |
OMIM:612656 |
Macular Degeneration, Age-Related, 3 |
|
Drusen, Macular degeneration, Decreased nerve conduction velocity, Choroidal neovascularization |
OMIM:608895 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Recurrent urinary tract infections, Depressed nasal bridge, Hypospadias, Almo... |
OMIM:619103 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os... |
OMIM:259440 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Optic disc colobom... |
OMIM:120200 |
Spinocerebellar Ataxia Type 8 |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Urinary incontinence, Hypoplasia of the... |
ORPHA:98760 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Hypoplasia of the pons, Synophrys, Anteverted nares, Hypospadias, Highly arched eyebrow, Narrow n... |
OMIM:619293 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Aminoaciduria, Jaundice, Hepatomegaly |
ORPHA:79238 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
Myopathy, Centronuclear, 2 |
|
Waddling gait, Distal muscle weakness, Facial palsy, Hyperlordosis, Respiratory insufficiency due... |
OMIM:255200 |
Avian Influenza |
|
Elevated hepatic transaminase, Pneumonia, Hepatitis, Conjunctivitis, Increased circulating lactat... |
ORPHA:454836 |
Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Optic atrophy, Cerebral cortical atrophy, Retin... |
OMIM:300438 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Ptosis, Hepatomegaly, Ataxia, Short stature, Micronodular cirrhosi... |
ORPHA:98907 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Hepatomegaly, Cataract, Ectopic kidney, Cystic renal dysplasia |
OMIM:613730 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cerebellar atrophy, Ataxia, Babinski sign, Optic atrophy, Dysmetria, Distal sensory impairment, S... |
OMIM:612674 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Osteolysis, Abnormal epiphysis morphology, Abnorma... |
ORPHA:35687 |
Camurati-Engelmann Disease, Type 2 |
|
Osteopenia, Hip contracture, Thoracolumbar scoliosis, Knee flexion contracture, Hyperostosis |
OMIM:606631 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Pancytopenia, Craniosynostosis, Joint stiffness, Cranial hyperostosis, ... |
ORPHA:309282 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Chemosis, Nephritis, Infectious enceph... |
ORPHA:73263 |
Behçet Disease |
|
Myositis, Abnormal pyramidal sign, Meningitis, Infectious encephalitis, Ataxia, Acne, Confusion, ... |
ORPHA:117 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Dysesthesia, Unsteady gait, Optic atrophy, Babinski sign, Limb ataxia... |
OMIM:619259 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving ... |
ORPHA:464321 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Anal fissure, Perianal abscess, Splenomegaly, Lymphadenitis... |
OMIM:618935 |
Nail-Patella Syndrome |
|
Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, R... |
ORPHA:2614 |
Laryngeal Neuroendocrine Tumor |
|
Oral-pharyngeal dysphagia, Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess |
ORPHA:100083 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Lymphadenopathy |
OMIM:608106 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Joint hypermobility, Kyphosis, Osteoporosis, Scoliosis, Bicoronal synostosis |
OMIM:619718 |
Benign Schwannoma |
|
Intestinal polyposis, Nasal polyposis, Facial palsy, Abnormality of the twelfth cranial nerve, Ab... |
ORPHA:252164 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology |
ORPHA:33111 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Gowers sign, Oligosacchariduria, Fatigable weakness of respiratory muscles, Lower limb muscle wea... |
ORPHA:365 |
Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls |
OMIM:617691 |
Masa Syndrome |
|
Lower limb spasticity, Short stature, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Sh... |
OMIM:303350 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Nasal polyposis, Bile duct polyp, Rectal prolapse, Biliary tract abnorm... |
OMIM:175200 |
Developmental And Epileptic Encephalopathy 47 |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Inability to walk, Limb ataxia, Gait disturbance |
OMIM:617166 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Delayed CNS myelination, Ataxia, Prominent nasal bridge, Tremor, Inability to walk, Wide nasal br... |
OMIM:619556 |
Pontocerebellar Hypoplasia, Type 7 |
|
Hypoplasia of the pons, Synophrys, Opisthotonus, Choreoathetosis, Hypertonia, High palate, Tongue... |
OMIM:614969 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, Ky... |
OMIM:130060 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
Ataxia-Oculomotor Apraxia 3 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Dysmetria, Distal sensory impairment, O... |
OMIM:615217 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Shoulder dislocation, Dislocated radial head, Spatulate thumbs, Osteoporosis, Scolios... |
OMIM:245600 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Distal muscle weakness, Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scol... |
ORPHA:101078 |
Shukla-Vernon Syndrome |
|
Cerebellar atrophy, Broad-based gait, Attention deficit hyperactivity disorder, Wide nasal base, ... |
OMIM:301029 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hepatomegaly, Depressed nasal bridge, Optic atrophy, Hypodontia, Abnormality of visual evoked pot... |
ORPHA:2971 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Pe... |
OMIM:618280 |
Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ... |
ORPHA:485 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... |
ORPHA:206484 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Skin rash, Maculopapular exanthema, Splenomegaly, Ja... |
ORPHA:540 |
Weismann-Netter Syndrome |
|
Severe short stature, Kyphosis, Horizontal sacrum, Delayed eruption of permanent teeth, Scoliosis... |
OMIM:112350 |
Spastic Paraplegia 51, Autosomal Recessive |
|
Cerebellar atrophy, Short stature, Long nose, Inability to walk, Bulbous nose, Babinski sign, Spa... |
OMIM:613744 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries |
ORPHA:79084 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Recurrent respiratory infections, Epicanthus, Cerebellar vermis hypoplasia, ... |
OMIM:619383 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Obesity, Cholestasis, Orofacial cleft, Hepatic fibrosis, Retinal dege... |
OMIM:615630 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Elevated hepatic transaminase, Short stature, Spastic tetraparesis, Precociou... |
ORPHA:356961 |
Brittle Cornea Syndrome |
|
Hallux valgus, Arachnodactyly, Osteoporosis, Increased susceptibility to fractures, Joint hyperfl... |
ORPHA:90354 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Adrenal hyperplasia, High, narrow palate, Anteriorly placed anus, Abnormal ov... |
ORPHA:95699 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Cryptorchidism, Optic atrophy, Retinal degeneration |
OMIM:249270 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Flexion contracture, Osteolysis involv... |
ORPHA:88630 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Short palm, Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kypho... |
OMIM:249420 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility |
OMIM:618323 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Intestinal obstruction, Lymphadenopathy, Inflammation of the larg... |
ORPHA:26790 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordos... |
OMIM:613327 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis, Recurrent infections |
OMIM:616098 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Renal hypophosphatemia, Osteomalacia, Recurrent fractures,... |
ORPHA:1652 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Cerebellar atrophy, Epicanthus, Cerebellar vermis hypoplasia, Telecanthus, Delayed CNS myelinatio... |
OMIM:618590 |
Mitochondrial Dna Depletion Syndrome 17 |
|
Cerebellar atrophy, Spastic tetraparesis, Chorea, Cerebral atrophy, Hemiballismus, Hepatic failure |
OMIM:618567 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cerebellar atrophy, Neurogenic bladder, Intestinal pseudo-obstruction, Involuntary movements, Abn... |
OMIM:619780 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
2P15P16.1 Microdeletion Syndrome |
|
High palate, Multicystic kidney dysplasia, Facial palsy, Sparse eyebrow, Wide nasal bridge, Gait ... |
ORPHA:261349 |
Short Stature-Micrognathia Syndrome |
|
Cerebellar atrophy, Small scrotum, Ataxia, Short stature, Rhizomelia, Cryptorchidism, Cleft palat... |
OMIM:617164 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Kyphosis, Abnormal metacarp... |
ORPHA:2658 |
Cog8-Cdg |
|
Cerebellar atrophy, Chronic axonal neuropathy, Poor head control, Elevated hepatic transaminase, ... |
ORPHA:95428 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Spinocerebellar Ataxia 26 |
|
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia |
OMIM:609306 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Cerebellar atrophy, Delayed CNS myelination, Short stature, Anteverted nares, Broad nasal tip, Br... |
OMIM:617763 |
Lissencephaly 6 With Microcephaly |
|
Cerebellar atrophy, Anteverted nares, Almond-shaped palpebral fissure, Partial agenesis of the co... |
OMIM:616212 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Optic atrophy, Gait disturbance, ... |
ORPHA:99014 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Underdeveloped nasal alae, Diastema, Patchy atrophy of the retinal pigment epithelium, Dental mal... |
ORPHA:436245 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Dental crowding, Hyperautofluorescent macular lesion, Hi... |
OMIM:209900 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Urinary incontinence, Rigidity, Babinski sign, Sp... |
ORPHA:247234 |
Alpha-Mannosidosis, Adult Form |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Pneumonia, Confusion, Recurrent infections, Hepato... |
ORPHA:309288 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... |
OMIM:600175 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Bowing of the long bones, Metaphyseal sclerosis, Thrombocytopenia, Osteoporosis, Incr... |
OMIM:612199 |
Werner Syndrome |
|
Hypertriglyceridemia, Osteoporosis, Elevated hemoglobin A1c, Reduced bone mineral density |
OMIM:277700 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Osteoporosis, In... |
OMIM:259770 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Neoplasm of the stomach |
OMIM:114500 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Tetraplegia, Hypertonia, Hemiplegia, Meningitis, In... |
OMIM:267700 |
Meningococcal Meningitis |
|
Papilledema, Renal insufficiency, Skin rash, Paresthesia, Infectious encephalitis |
ORPHA:33475 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Cerebellar atrophy, Delayed CNS myelination, Broad-based gait, Short stature, Dystonia, Hypospadi... |
OMIM:618891 |
Baralle-Macken Syndrome |
|
Urinary incontinence, Kyphosis, Inability to walk, High, narrow palate, Upslanted palpebral fissu... |
OMIM:619255 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Demen... |
OMIM:137440 |
Spinocerebellar Ataxia 6 |
|
Cerebellar atrophy, Incoordination, Ataxia, Abnormal vestibulo-ocular reflex, Slurred speech, Dys... |
OMIM:183086 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating p... |
ORPHA:79277 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Overlapping toe, Scoliosis, Reduced bone mineral density |
ORPHA:466926 |
Abetalipoproteinemia |
|
Abetalipoproteinemia, Fat malabsorption, Retinopathy, Retinal degeneration |
OMIM:200100 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the liver, I... |
ORPHA:424019 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11 |
|
Intrauterine growth retardation, Viral encephalitis |
OMIM:619441 |
Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Corpus callosum atrophy, Abnormal pons morphology, Lateral ventricle di... |
ORPHA:77299 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Pancytopenia, Thrombocytopenia, Splenomegaly, Osteolysis, Increas... |
ORPHA:77261 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Kyphosis, Wide mouth, Truncal obesity, Everted lower lip vermilion, Sho... |
ORPHA:2429 |
Arthrogryposis, Distal, Type 4 |
|
Osteopenia, 2-5 finger cutaneous syndactyly, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar s... |
OMIM:609128 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Episodic Ataxia Type 6 |
|
Cerebellar atrophy, Slurred speech, Ataxia, Hemiplegia |
ORPHA:209967 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Obesity, Truncal obesity, Rod-cone dystrophy, Retinal de... |
OMIM:615986 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatars... |
OMIM:190351 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Ataxia, Corpus callosu... |
ORPHA:168491 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1 |
|
Recurrent herpes, Herpes simplex encephalitis |
OMIM:610551 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormal metacarpophalangeal joint morphology, Joint stiffness, Splenomegaly, Increased circulati... |
ORPHA:465508 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... |
OMIM:612840 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebellar atrophy, Wide nose, Wide nasal bridge, Intrauterine growth retardation, Hypoplastic sp... |
ORPHA:89844 |
Developmental And Epileptic Encephalopathy 48 |
|
Cerebellar atrophy, Optic disc pallor, Cerebral atrophy, Long eyelashes, Long palpebral fissure, ... |
OMIM:617276 |
4Q21 Microdeletion Syndrome |
|
Depressed nasal bridge, Short neck, Tremor, Kyphosis, Synophrys, Growth delay, Long eyelashes, Ce... |
ORPHA:238750 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Long fingers, Osteo... |
OMIM:309583 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Cerebellar atrophy, Ureteral stenosis, Ataxia, Anteverted nares, Depressed nasal bridge, Hydroure... |
OMIM:615398 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Cerebellar vermis hypoplasia, Ataxia, Dystonia, Highly arched eyebrow, Anteverted nares, Tremor, ... |
OMIM:220111 |
Glutaric Acidemia I |
|
Hepatomegaly, Ketonuria, Rigidity, Glutaric aciduria, Delayed myelination, Spastic diplegia, Opis... |
OMIM:231670 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Cerebellar atrophy, Progressive cerebellar ataxia |
OMIM:618412 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Cerebellar atrophy, Hepatomegaly, Epicanthus, Elevated hepatic transaminase, Unilateral renal age... |
OMIM:614576 |
Developmental And Epileptic Encephalopathy 5 |
|
Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, CNS hypomyelination, Atrophy/Degenerat... |
OMIM:613477 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis |
OMIM:300718 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Linear Verrucous Nevus Syndrome |
|
Short metacarpal, Toe syndactyly, Reduced bone mineral density, Scoliosis, Hypophosphatemia |
ORPHA:2611 |
Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral a... |
OMIM:213700 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Cataract, Long-chain di... |
OMIM:608836 |
Ataxia With Vitamin E Deficiency |
|
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... |
OMIM:277460 |
Micro Syndrome |
|
Hypoplasia of penis, Cerebellar vermis hypoplasia, Short stature, Anteverted nares, Abnormal cere... |
ORPHA:2510 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Diffuse cerebral atrophy, Involuntary movements, Upper limb postural tremor, Tetraparesis, Diffus... |
ORPHA:477774 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease |
OMIM:214900 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Anteverted nares, Tremor, Flared nostrils, Wide nasal bridge, Cerebral atrophy, Choreoathetosis, ... |
OMIM:312170 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy |
OMIM:618982 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Cerebellar atrophy, Dystonia, Microvesicular hepatic steatosis, Chorea, Cerebral atrophy, Opistho... |
OMIM:616672 |
Sarcoidosis |
|
Hepatomegaly, Abnormal nasal mucosa morphology, Hypercalcemia, Portal hypertension, Facial palsy,... |
ORPHA:797 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Ectopic kidney, Long nose, Dysmetria, Micropenis, Ataxia, Short stature, Cryptorchidism, Renal hy... |
OMIM:616541 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Cerebellar atrophy, Generalized dystonia, Atrophy of the spinal cord, Progressive spastic parapar... |
ORPHA:329308 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Cerebellar atrophy, Lacticaciduria, Cerebral atrophy, Choreoathetosis, Dystonia, Limb hypertonia |
OMIM:618247 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Osteoporosis, Hypokalemia, Biconcave vertebral bodies, Vertebral compression fracture |
OMIM:219090 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia |
ORPHA:1046 |
Amish Lethal Microcephaly |
|
Decreased skull ossification, Osteoporosis, Limitation of joint mobility |
ORPHA:99742 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Kyphoscoliosis, Tremor, Inability to wal... |
ORPHA:99956 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis |
OMIM:620010 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Epicanthus, Broad-based gait, Short stature, Anterior concavity of thoracic vertebrae, Anteverted... |
OMIM:617101 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Cerebellar atrophy, Ataxia, Vestibular areflexia, Limb ataxia, Gait ataxia, Axonal loss, Positive... |
OMIM:614575 |
Congenital Myopathy 8 |
|
High palate, Cardiomegaly |
OMIM:618654 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Renal cyst, High palate, Elevated gamma-glutamyltransferase level, Agenesis of corpus callosum, I... |
OMIM:614866 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Mcdonough Syndrome |
|
Short stature, Cachexia, Open bite, Cryptorchidism, Kyphosis, Dental malocclusion, Short philtrum... |
ORPHA:2471 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Microvesicular hepatic steatosis, Chorea, Axonal loss, Gliosis, Hepatomegaly, Lagophthalmos, Micr... |
ORPHA:404454 |
Wieacker-Wolff Syndrome |
|
Dystonia, Short stature, Facial palsy, Anteverted nares, Short neck, Hyperlordosis, Kyphosis, Del... |
OMIM:314580 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Chime Syndrome |
|
Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Osteolysis, ... |
ORPHA:3474 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Short neck, Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentr... |
OMIM:608779 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Congenital Disorder Of Glycosylation, Type Iii |
|
Cerebellar atrophy, Neurogenic bladder, Short stature, Atrophy/Degeneration affecting the brainst... |
OMIM:613612 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy |
OMIM:614229 |
X Small Rings |
|
Joint laxity, Toe syndactyly, Tapered finger, Osteoporosis, 2-3 toe syndactyly, Upper limb underg... |
ORPHA:96201 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia, Long philtrum, Abnormality of visual evoked potentials, Short nose, Abnormal palate mor... |
ORPHA:1389 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Hepatomegaly, Cataract, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninuria |
OMIM:204000 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... |
ORPHA:781 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Osteoporosis, Recurrent fractures, Reduced bone mineral density |
ORPHA:2235 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... |
ORPHA:64744 |
Familial Or Sporadic Hemiplegic Migraine |
|
Cerebellar atrophy, Confusion, Involuntary movements, Impaired temperature sensation, Dissociated... |
ORPHA:569 |
Developmental And Epileptic Encephalopathy 93 |
|
Cerebellar atrophy, Spastic tetraparesis, Inability to walk, Optic atrophy, Cerebral atrophy, CNS... |
OMIM:618012 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Micropenis, Cataract |
OMIM:610156 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cerebellar atrophy, Epicanthus, Babinski sign, Narrow palate, CNS hypomyelination, Facial diplegi... |
OMIM:618186 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Pustule, My... |
ORPHA:139402 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Metaphyseal widening, Arachnodactyly, Osteoporosis, Slen... |
ORPHA:536467 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... |
ORPHA:93476 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Ele... |
ORPHA:355 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Ataxia, Rhizomelia, Tremor, Bulbous nose, Recurrent pneumonia, Cerebral atrop... |
OMIM:616271 |
Scheie Syndrome |
|
Wide nose, Depressed nasal bridge, Retinal degeneration |
OMIM:607016 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Abnormality of the pa... |
ORPHA:2552 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Optic atrophy, Cerebral atrophy, Hypodontia, Brain atrophy, Failure to thrive, Retinal degeneration |
ORPHA:442835 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Fetal ascites, Hepatomegaly |
OMIM:619462 |
Reynolds Syndrome |
|
Hepatomegaly, Skin rash, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Arthritis, Ker... |
ORPHA:779 |
Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Ena... |
OMIM:270200 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Anteverted nares, Depressed nasal bridge, Hypospadias, Hyperlordosis, Kyphosis, Sy... |
OMIM:615761 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Cerebellar atrophy, Anteverted nares, Short neck, Wide nasal bridge, Cerebral atrophy, Prominent ... |
OMIM:616266 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Dietary Iron Overload Disease |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoporosis, Elev... |
ORPHA:139507 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:101075 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7 |
|
Herpes simplex encephalitis |
OMIM:616532 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Hepatosplenomegaly |
OMIM:273680 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Osteoporosis |
OMIM:615954 |
Developmental And Epileptic Encephalopathy 99 |
|
Cerebellar atrophy, Delayed CNS myelination, Eyelid myoclonus, Frontotemporal cerebral atrophy, A... |
OMIM:619606 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Kyphosis, Osteoporosis |
OMIM:610489 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Tremor, Quadriceps muscle weakness, Gait ataxia, Abnormality of the liver, Hypertonia, Ataxia, Fa... |
ORPHA:254892 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Gait disturbance, Distal l... |
OMIM:612020 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulating creatinine... |
OMIM:620366 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Babinski sign, Optic atrophy, Gait atax... |
OMIM:620089 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Truncus arteriosus, Intestinal malrotation, Hiatus he... |
ORPHA:2538 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Cerebellar atrophy, Ataxia, Urinary incontinence, Long nose, Ophthalmoplegia, Loss of ability to ... |
OMIM:300243 |
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
Epicanthus, Depressed nasal bridge, Wide nasal bridge, Cerebral atrophy, CNS hypomyelination, Hig... |
OMIM:615760 |
Distal Deletion 10Q |
|
Clonus, Prominent nose, Functional abnormality of the bladder, High palate, Vesicoureteral reflux... |
ORPHA:96148 |
Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Abnormal pericardium morphology, Abnormal stomach morphology, Dys... |
ORPHA:2357 |
Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
3-Methylglutaconic Aciduria Type 7 |
|
Cerebellar atrophy, Elevated hepatic transaminase, Renal insufficiency, Abnormal pyramidal sign, ... |
ORPHA:445038 |
Senior-Loken Syndrome 9 |
|
Retinal dystrophy, Obesity, Cholestasis, Macular degeneration, Hepatic fibrosis, Hypogonadism, Ro... |
OMIM:616629 |
Bethlem Myopathy 2 |
|
Kyphosis, Distal joint laxity, Flexion contracture, Scoliosis |
OMIM:616471 |
Hepatoerythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Splenomegaly, Abnormal circulating porphyrin concentration, Osteopo... |
ORPHA:95159 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Impaired pain sensation, Kyphosis, Chorea, Inability to walk, Abnormal pyramidal sign, Cerebral a... |
ORPHA:500180 |
Fetal Akinesia Deformation Sequence 4 |
|
Short neck, Cryptorchidism, Kyphosis, High palate, Camptodactyly, Arthrogryposis multiplex congenita |
OMIM:618393 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Short attention span, Chorea, Babinski sign, Optic atrophy, Cerebral atrophy,... |
OMIM:610217 |
Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... |
ORPHA:2710 |
Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Short stature, Abnormality of the dentition, Limitation of joint mobility, Growth del... |
ORPHA:177 |
Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Eyelid coloboma, Agenesis of corpus callosum, ... |
ORPHA:2308 |
Dystonia-Aphonia Syndrome |
|
Cerebellar atrophy, Generalized dystonia, Unsteady gait, Cerebral atrophy, Macroglossia, Abnormal... |
ORPHA:412217 |
Rift Valley Fever |
|
Back pain, Elevated hepatic transaminase, Skin rash, Paralysis, Paraparesis, Jaundice, Severe vir... |
ORPHA:319251 |
Marden-Walker Syndrome |
|
Short neck, High, narrow palate, High palate, Micropenis, Agenesis of corpus callosum, Dandy-Walk... |
OMIM:248700 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Ly... |
ORPHA:381 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Delayed CNS myelination, Distal muscle weakness, Short stature, Facial palsy, Anteverted nares, S... |
OMIM:301041 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... |
OMIM:209950 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Cerebellar atrophy, Poor head control, Hypospadias, Corpus callosum atrophy, Cerebral atrophy, Op... |
OMIM:619272 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Calcinosis, Down-sloping shoulders, Joint stiffness, Coxa valga, Hyperlipidemia, Flex... |
OMIM:248370 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis |
ORPHA:2396 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Avascular necrosis of the capital femoral epiphysis, Osteoporosis,... |
OMIM:613990 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocy... |
OMIM:618886 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Sickle Cell Disease |
|
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarcti... |
OMIM:603903 |
Cockayne Syndrome B |
|
Abnormal peripheral myelination, Tremor, Micropenis, Hepatomegaly, Ataxia, Cerebellar calcificati... |
OMIM:133540 |
Atypical Rett Syndrome |
|
Total ophthalmoplegia, Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Kyphosis... |
ORPHA:3095 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Kyphosis, Head titubation, Optic atrophy, Bro... |
OMIM:619708 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Familial Melanoma |
|
Neoplasm of the pancreas, Abnormality of the lymphatic system, Neoplasm of the stomach |
ORPHA:618 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
Distal Deletion 10P |
|
Hypoplasia of penis, Cryptorchidism, Cleft palate, Polycystic ovaries, Ectopic anus, Anal atresia |
ORPHA:1580 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym... |
OMIM:603909 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Bone marrow hypocellularity, Neutropenia... |
OMIM:613989 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Ataxia-Oculomotor Apraxia 4 |
|
Cerebellar atrophy, Impaired vibratory sensation, Dystonia, Ataxia, Abnormal pyramidal sign, Tetr... |
OMIM:616267 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Ovarian neoplasm, Glossitis, Lymphadenopathy |
ORPHA:2221 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Pain insensitivity, Cerebellar vermis hypoplasia, Distal muscle weakness, Short stature, Kyphosis... |
ORPHA:364028 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Hepatomegaly, Depressed nasal bridge, Cerebral atrophy, Gliosis, High palate,... |
OMIM:604377 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... |
OMIM:183900 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Cerebellar atrophy, Narrow nasal bridge, Delayed myelination, Hypertonia, Scoliosis, Spasticity, ... |
ORPHA:544503 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Optic atrophy, Nephrotic syndrome, Focal segmental glome... |
OMIM:617303 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis |
ORPHA:75234 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Cataract, Hypospadias |
ORPHA:1381 |
Ovarian Fibroma |
|
Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Ascites, Abnormality of the... |
ORPHA:314473 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Cerebellar atrophy, Small scrotum, Cryptorchidism, Optic atrophy, Intrauterine growth retardation... |
OMIM:615597 |
Stt3B-Cdg |
|
Cerebellar atrophy, Small scrotum, Cryptorchidism, Optic atrophy, Intrauterine growth retardation... |
ORPHA:370924 |
Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc... |
OMIM:618060 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Epicanthus, Short stature, Depressed nasal bridge, Kyphosis, Scoliosis |
OMIM:300434 |
Cockayne Syndrome |
|
Urinary incontinence, Progressive gait ataxia, Hypertonia, Gliosis, Intention tremor, Hepatomegal... |
ORPHA:191 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... |
ORPHA:1414 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Poor head control, Kyphoscoliosis, Hyperlordosis, Respiratory i... |
ORPHA:2020 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Short stature, Recurrent fractures, Kyphoscoliosis, Dentinogenesis impe... |
OMIM:610968 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar... |
OMIM:618598 |
Attrv30M Amyloidosis |
|
Nephropathy, Cardiomyopathy, Abnormal renal physiology, Cardiomegaly |
ORPHA:85447 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Rod-cone dystrophy, Atten... |
OMIM:613464 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
Cone-Rod Dystrophy 15 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:613660 |
Complement Component 8 Deficiency, Type I |
|
Meningitis |
OMIM:613790 |
15Q24 Microdeletion Syndrome |
|
Joint laxity, Short stature, Decreased response to growth hormone stimulation test, Small for ges... |
ORPHA:94065 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Coxa vara, Reduced bone mineral density, Tibial bowing, Iron deficiency anemia, Hypoplastic iliac... |
ORPHA:93315 |
Pleural Mesothelioma |
|
Hepatomegaly, Dysphagia, Lymphadenopathy |
ORPHA:50251 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Splen... |
OMIM:616100 |
Achromatopsia 7 |
|
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy |
OMIM:616517 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Cerebellar vermis hypoplasia, Synophrys, Dysmetria, Gait ataxia, Vesicoureteral reflux, Micropeni... |
OMIM:617330 |
Perrault Syndrome 4 |
|
Osteoporosis |
OMIM:615300 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Splenome... |
OMIM:618892 |
Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly |
OMIM:614480 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Cerebellar atrophy, Hepatomegaly, Distal muscle weakness, Ataxia, Pancreatic fibrosis, Short stat... |
OMIM:616263 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Distal muscle weakness, Ataxia, Facial palsy, Mild postnatal growth retardation, Dy... |
ORPHA:456312 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intestinal obstruction, Jaun... |
ORPHA:1333 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly |
OMIM:269840 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium, Supernumer... |
ORPHA:1433 |
Craniosynostosis 6 |
|
Cerebellar atrophy, Lateral ventricle dilatation, Scoliosis, Spina bifida occulta, Agenesis of co... |
OMIM:616602 |
Autosomal Recessive Spastic Paraplegia Type 39 |
|
Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Spastic paraplegia, Babins... |
ORPHA:139480 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Inflammation of the large i... |
OMIM:300635 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Enlarged polycystic ovaries, Furrowed tongue, H... |
ORPHA:201 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Cryptorchidism, Macular degeneration, Choroidal neovascularization, Cerebral cortical atrophy |
ORPHA:404451 |
American Trypanosomiasis |
|
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy, ... |
ORPHA:3386 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia |
ORPHA:37748 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Depressed nasal bridge, Tremor, Splenomegaly... |
OMIM:608799 |
Spinocerebellar Ataxia 4 |
|
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... |
OMIM:600223 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Flexion contracture, Osteoporosis, Elbow flexion contracture, Hip dislocation |
OMIM:614438 |
Congenital Enterovirus Infection |
|
Skin rash, Myocarditis, Hepatitis, Cholestasis, Hepatic failure, Meningitis, Infectious encephalitis |
ORPHA:292 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Cerebellar atrophy, Short stature, Babinski sign, Cerebral atrophy, Gait ataxia, Sensory ataxia, ... |
OMIM:616192 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Short stature, Recurrent fractures, Postnatal growth retardation, Kyphosis, Dentinoge... |
OMIM:616294 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Prominent nasal bridge, Short neck, Kyphosis, Cryptorchidism, Abnormality of the palpebral fissur... |
ORPHA:178148 |
3C Syndrome |
|
Hypoplasia of penis, Short neck, High, narrow palate, Hemivertebrae, Aplasia/Hypoplasia of the ce... |
ORPHA:7 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Tapered finger, 2-3 toe cuta... |
OMIM:300998 |
Meacham Syndrome |
|
Hypoplasia of penis, Ambiguous genitalia, Ventricular septal defect, Situs inversus totalis, Abno... |
ORPHA:3097 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Underdeveloped nasal alae, Cryptorchidism, Abnormality of pattern visual evoked potentials, Broad... |
ORPHA:166035 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Epicanthus, Sacral dimple, Short stature, Anteverted nares, Delayed perip... |
OMIM:605039 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Foot osteomyelitis, Osteomyelitis, Distal muscle weakness, Impaired distal proprioception, Decrea... |
OMIM:162400 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Lymphadenopathy |
OMIM:605258 |
Myopathic Ehlers-Danlos Syndrome |
|
Failure to thrive, Multiple joint contractures, Foot joint contracture, Shoulder flexion contract... |
ORPHA:536516 |
Castleman Disease |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Generalized lymphadenopathy, Abdo... |
ORPHA:160 |
Tetragametic Chimerism |
|
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... |
ORPHA:199310 |
Dominant Beta-Thalassemia |
|
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... |
ORPHA:231226 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Neuropathic spinal arthropathy, Telecanthus, Broad-based gait, Ataxia, Palpebral edema, Kyphoscol... |
ORPHA:397709 |
Cone Dystrophy 3 |
|
Cone/cone-rod dystrophy, Macular atrophy |
OMIM:602093 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Spina bifida occulta, Genu valgum, Reduced bone mineral density |
ORPHA:2983 |
Zimmermann-Laband Syndrome 3 |
|
Broad nasal tip, Kyphosis, Synophrys, Wide nasal bridge, Long eyelashes, High palate, Bifid uvula... |
OMIM:618658 |
Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures... |
OMIM:609220 |
Radio-Tartaglia Syndrome |
|
Tremor, High, narrow palate, Synophrys, High palate, Agenesis of corpus callosum, Ataxia, Antever... |
OMIM:619312 |
Sialidosis Type 1 |
|
Urinary excretion of sialylated oligosaccharides, Ataxia, Short stature, Tremor, Splenomegaly, Ky... |
ORPHA:812 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Cerebellar atrophy, Cerebral atrophy, Hypertonia, Dystonia, Intrauterine growth retardation |
OMIM:614654 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5 |
|
Herpes simplex encephalitis |
OMIM:614849 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Enteroviral hepatitis, ... |
OMIM:300755 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Delayed myelination, Cryptorchidism, Prolonged neonatal jaundice, Downslanted palpebral... |
OMIM:618512 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Arthrogryposis multiplex conge... |
ORPHA:86822 |
Clark-Baraitser syndrome |
|
Joint laxity, Exaggerated median tongue furrow, Kyphosis, Thick lower lip vermilion, Obesity, Pro... |
OMIM:300602 |
Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ata... |
OMIM:602481 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi... |
ORPHA:663 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Epicanthus, Kyphosis, Cryptorchidism, Agenesis of corpus callosum, High palate, Attention deficit... |
OMIM:615433 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Joint stiffness, Abnormality of the dentition, Kyphosis, Scoliosis, Abnormal testis morphology |
ORPHA:1548 |
Van Esch-O'Driscoll Syndrome |
|
Shallow orbits, Spina bifida occulta, Bifid uvula, Short stature, Depressed nasal bridge, Hypogon... |
OMIM:301030 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Epicanthus, Exaggerated startle response, Tremor, Abnormal cerebellum morphol... |
OMIM:618056 |
Subacute Sclerosing Panencephalitis |
|
Infectious encephalitis |
OMIM:260470 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10 |
|
Herpes simplex encephalitis |
OMIM:619396 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Hydronephrosis, Cerebel... |
OMIM:620327 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia, Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
Developmental And Epileptic Encephalopathy 65 |
|
Cerebellar atrophy, Spasticity, Highly arched eyebrow, Cerebral atrophy |
OMIM:618008 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Macs Syndrome |
|
Joint laxity, Osteoporosis, Scoliosis, Joint hypermobility, Brachydactyly |
OMIM:613075 |
Gaucher Disease Type 2 |
|
Splenomegaly, Dysphagia, Hepatomegaly |
ORPHA:77260 |
X-Linked Intellectual Disability, Najm Type |
|
Optic nerve hypoplasia, Rigidity, Optic atrophy, Wide nasal bridge, Gait disturbance, Cerebellar ... |
ORPHA:163937 |
Cold Agglutinin Disease |
|
Hepatomegaly, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Metatropic Dysplasia |
|
Relatively short spine, Severe short stature, Kyphoscoliosis, Abnormal enchondral ossification, H... |
OMIM:156530 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypoplasia of the pons, Abnormal pyramidal sign, Hypertonia, Microphallus, Pelvic kidney, Agenesi... |
ORPHA:468631 |
Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Depressed nasal bridge, Elevated circulating creatine kinase concentration, Cr... |
ORPHA:314389 |
Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Recurrent fractures, Osteoporosis, Tibial bowing, Short foot, Slender long bone, O... |
OMIM:601812 |
Joubert Syndrome 37 |
|
Hepatomegaly, Wide nose, Lumbar hyperlordosis, Cerebellar vermis hypoplasia, Short stature, Antev... |
OMIM:619185 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto... |
ORPHA:91 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Parkinsonism, Dysesthesia, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Pollakisuria, ... |
ORPHA:93256 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Recurrent infection of the gastrointestinal tract, Autoimmune thromb... |
OMIM:608184 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Cerebellar atrophy, Dystonia, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Brain atr... |
OMIM:616875 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait d... |
OMIM:614898 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:2584 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... |
OMIM:208540 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Joint laxity, Short stature, Small for gestational age, Kyphoscoliosis, Kyphosis, Delayed epiphys... |
ORPHA:93360 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Pontocerebellar Hypoplasia, Type 2B |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Clonus, Chorea, Babinski sign, Cerebral atrophy... |
OMIM:612389 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Ataxia, Segmental peripheral demyelination/remyelination, Abnormality of Krebs cycl... |
ORPHA:255210 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... |
OMIM:618195 |
Primary Ciliary Dyskinesia |
|
Nasal polyposis, Intestinal malrotation, Asplenia, Nasal congestion, Polysplenia, Chronic rhiniti... |
ORPHA:244 |
Muir-Torre Syndrome |
|
Endometrial carcinoma, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, A... |
ORPHA:587 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Decreased circulating ceruloplasmin concentration, Decreased circula... |
OMIM:304150 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Renal cyst, High palate, Vesicoureteral ref... |
OMIM:616975 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy... |
OMIM:231095 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Narrow nasal bridge, Telecanthus, Cerebellar vermis hypoplasia, Depressed nasal bridge, Short nec... |
OMIM:620073 |
Sjögren-Larsson Syndrome |
|
Retinopathy, Macular degeneration, Abnormality of retinal pigmentation, Abnormal dental enamel mo... |
ORPHA:816 |
Cysticercosis |
|
Somatic sensory dysfunction, Ataxia, Confusion, Iridocyclitis, Abnormality of the vertebral colum... |
ORPHA:1560 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebellar atrophy, Hepatomegaly, Ataxia, Short stature, Postural tremor, Seborrheic dermatitis, ... |
OMIM:301072 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Copper accumulation in liver, Cerebral atrophy, Gro... |
OMIM:614946 |
Wiedemann-Steiner Syndrome |
|
Synophrys, High palate, Brow ptosis, Short stature, Highly arched eyebrow, Cryptorchidism, Wide n... |
OMIM:605130 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Short stature, Abnormality of the dentition, Kyphosis, Increased circulating IgE level, Dental ma... |
ORPHA:1858 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Metaphyse... |
ORPHA:536471 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... |
OMIM:221900 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Bowing of the legs, Increased circulating beta-C-terminal telopeptide concentration... |
ORPHA:157215 |
Choreoacanthocytosis |
|
Caudate atrophy, Chorea, Oromandibular dystonia, Hypertonia, Limb dystonia, Loss of ambulation, L... |
ORPHA:2388 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Nummular pigmentation of the fundus, Pigmentary retinopathy |
OMIM:613835 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidis... |
ORPHA:1655 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Cerebellar atrophy, Hepatomegaly, Epicanthus, Delayed CNS myelination, Short stature, Splenomegal... |
OMIM:618541 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Short attention span, Delayed CNS myelination, Ataxia, Protruding tongue, Ina... |
OMIM:619580 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Short stature, Cryptorchidism, Chorea, Wide nasal bridge, Narrow palate, Athetosis, Downs... |
OMIM:619435 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Kyphoscoliosis, Tall lumbar vertebral bodies, Osteoporosis, Osteolytic ... |
OMIM:102500 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Faciocardiomelic Syndrome |
|
Osteopenia, Cuboid-shaped vertebral bodies, Slender long bone, Polydactyly, Hypoplastic pelvis, T... |
OMIM:612731 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Cerebellar atrophy, Elevated hepatic transaminase, Short stature, Hypergonadotropic hypogonadism,... |
OMIM:268020 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Abnormal tibia morphology, Ab... |
ORPHA:666 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Short palm, Clin... |
ORPHA:457395 |
Coccidioidomycosis |
|
Osteomyelitis, Eosinophilia, Abscess, Abnormality of the spleen, Osteolysis, Abnormal long bone m... |
ORPHA:228123 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Thoracic kyphoscoliosis, Thoracic scoliosis, Distal joint laxity, Generalized joint l... |
ORPHA:1900 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Osteoporosis, Rickets, Iron deficiency anemia, Hypocalcemia, Thrombocytosis, D... |
OMIM:212750 |
Alpha-Mannosidosis |
|
Craniofacial hyperostosis, Short neck, Open bite, Kyphosis, Dental malocclusion, Gingival overgro... |
ORPHA:61 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone... |
ORPHA:89936 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Highly arched eyebrow, Kyphosis, Congenital bilateral ptosis, Congenital fibrosis of extraocular ... |
OMIM:609384 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... |
ORPHA:420492 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:615415 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Flexion contracture, Progressive clavicular acroosteolysis, Osteolytic defects of... |
OMIM:608612 |
Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:617781 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... |
OMIM:613011 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ... |
OMIM:609981 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Hip contracture, Ankle flexion contracture, Knee flexion contracture, Reduced bone mineral densit... |
OMIM:620232 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis |
OMIM:619868 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy |
ORPHA:157991 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Wide anterior fontanel, Genu v... |
OMIM:620099 |
Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi... |
ORPHA:615 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Esoph... |
OMIM:619463 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Thoracic scoliosis, Multiple joint contractures, Brachydactyly, Microcytic anemia, T ... |
ORPHA:2959 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Synophrys, Dandy-Walker malformation, Cerebellar dysplasia, Hypospadias, Highly arched eyebrow, S... |
ORPHA:487796 |
Diastrophic Dysplasia |
|
Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Cryptorchidism, Kyphosi... |
ORPHA:628 |
Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Tremor, Periodontitis, Ataxia, Parkinsonism, Recurrent strep... |
ORPHA:167 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Ataxia-Telangiectasia |
|
Lymphopenia, Aplasia/Hypoplasia of the thymus, Abnormal testis morphology, Polycystic ovaries |
ORPHA:100 |
Joubert Syndrome 3 |
|
Epicanthus, Cerebellar vermis hypoplasia, Ataxia, Anteverted nares, Highly arched eyebrow, Wide n... |
OMIM:608629 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Joint stiffness, Broad metatarsal, Scoliosis, Broad phalanges of the hand, ... |
OMIM:277600 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Splenomegaly, Thrombocytopenia, H... |
ORPHA:158057 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Short stature, Abnormal dental enamel morphology, Hyperlordosis, ... |
ORPHA:1798 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells |
OMIM:620282 |
Hyperparathyroidism 4 |
|
Osteopenia, Hypercalcemia |
OMIM:617343 |
Spinocerebellar Ataxia 7 |
|
Macular degeneration, Optic atrophy, Pigmentary retinopathy |
OMIM:164500 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammatio... |
OMIM:602347 |
Lowry-Maclean Syndrome |
|
Osteopenia, Osteoporosis, Craniosynostosis |
ORPHA:2409 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Malabsorption, Splenomegaly, Furrowed tongue, Hamartomatous p... |
ORPHA:2930 |
Melioidosis |
|
Liver abscess, Abnormality of the spleen, Hepatitis, Abnormal parotid gland morphology, Splenic a... |
ORPHA:31202 |
Developmental And Epileptic Encephalopathy 75 |
|
Optic disc pallor, Anteverted nares, Babinski sign, Optic atrophy, Wide nasal bridge, Spasticity,... |
OMIM:618437 |
Cadds |
|
Cerebellar atrophy, Elevated hepatic transaminase, Cholangitis, Cholestasis, Dystonia, Intrauteri... |
ORPHA:369942 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Short stature, Optic nerve hypoplasia, Dysplastic corpus callosum, Abnormal p... |
OMIM:614833 |
Aceruloplasminemia |
|
Decreased serum iron, Aceruloplasminemia, Increased circulating ferritin concentration, Retinal d... |
OMIM:604290 |
Ciliary Dyskinesia, Primary, 35 |
|
Nasal polyposis, Abdominal situs ambiguus, Chronic rhinitis |
OMIM:617092 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly |
OMIM:616622 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, High palate, Scoliosis, Long philtrum, Delayed puberty |
ORPHA:2598 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Beta-Thalassemia Major |
|
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... |
ORPHA:231214 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Proteinuria, Asplenia, Cervical lymphadenopathy, Lymphadenopathy,... |
OMIM:614034 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Splenomegaly, Polycystic ovaries, Hypertrophic cardiomyopathy, Hepatic steatosis, P... |
ORPHA:2348 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... |
ORPHA:848 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... |
ORPHA:247815 |
Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Optic atrophy, Hyperammonemia, Cerebral atrophy, Frontotemporal cerebra... |
ORPHA:391428 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Hypotaurinemia, Retinal pigment ep... |
OMIM:145350 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent herpes, Villous atrophy, Functional abnormality of the bladder, Infectious encephalitis... |
ORPHA:391487 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome |
|
Epicanthus, Small scrotum, Cryptorchidism, Synophrys, Hemiplegia/hemiparesis, Optic atrophy, Wide... |
ORPHA:1970 |
Caspase 8 Deficiency |
|
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy |
OMIM:607271 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... |
OMIM:212050 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Joint hyperflexibility, Spina bifida occulta, Slender long bone, Reduced bone mineral density |
ORPHA:1185 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Osteoporosis, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:224230 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Short stature, Decreased response to growth hormone stimulation te... |
ORPHA:293987 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Intermittent jaundice, Reticulocytosis |
OMIM:179700 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Coxa vara, Wrist flexion contracture, Abnorma... |
ORPHA:800 |
Emanuel Syndrome |
|
High palate, Micropenis, Dandy-Walker malformation, Cryptorchidism, Renal hypoplasia, Scoliosis, ... |
OMIM:609029 |
Trigeminal Neuralgia |
|
Somatic sensory dysfunction, Cranial nerve compression, Paresthesia, Allodynia, CNS demyelination... |
ORPHA:221091 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Cryptorchidism, Kyphosis, Flexion contracture, Scolios... |
OMIM:618484 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Spondyloocular Syndrome |
|
Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, Platyspondyl... |
OMIM:605822 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp... |
ORPHA:131 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Splenomegaly, Pericarditis, Lymphadenopathy |
ORPHA:85414 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Coiled sperm flagella, Short sperm flagella, Nasal polyposis, Recurrent sinusitis |
OMIM:620197 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Splenomegaly, Chylopericardium, Gastroesophageal reflux, Pulmonic stenosis, Ascites |
ORPHA:2414 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Proximal placement of thumb, Reduced bone mineral density, Joint hyperfl... |
ORPHA:1488 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Cerebellar atrophy, Recurrent respiratory infections, Involuntary movements, Babinski sign, Cereb... |
OMIM:618397 |
Bainbridge-Ropers Syndrome |
|
Synophrys, Hypertonia, Choanal stenosis, High palate, Anteverted nares, Depressed nasal bridge, H... |
OMIM:615485 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy... |
ORPHA:217260 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymphatic system, Ab... |
ORPHA:54251 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Osteoporosis, Small hand, Short foot, Hip dysplasia, Scoliosis |
ORPHA:398079 |
Kleefstra Syndrome 2 |
|
Kyphosis, Growth delay, Everted lower lip vermilion, Scoliosis, Bifid uvula |
OMIM:617768 |
Igg4-Related Ophthalmic Disease |
|
Cholangitis, Elevated circulating C-reactive protein concentration, Abnormality of infra-orbital ... |
ORPHA:449563 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced my... |
OMIM:201475 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... |
OMIM:150550 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Recurrent respiratory infections, Mesenteric cyst, Anteverted nares, Depressed nasal bridge, High... |
OMIM:618316 |
Lysinuric Protein Intolerance |
|
Hypolysinemia, Recurrent fractures, Splenomegaly, Increased circulating ferritin concentration, O... |
OMIM:222700 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Cerebellar atrophy, Poor head control, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:619685 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Abnormal circulating serine conc... |
ORPHA:470 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebellar vermis hypoplasia, Ataxia, Delayed myeli... |
ORPHA:543470 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Retinal atrophy, Retinal dystrophy, Elevated circulating creatine kinase concentration |
ORPHA:370022 |
Intellectual Developmental Disorder, Autosomal Dominant 62 |
|
Scoliosis, Cerebellar vermis atrophy |
OMIM:618793 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Cerebellar atrophy, Optic disc pallor, Poor head control, Lower limb spasticity, Optic neuropathy... |
OMIM:618249 |
Prader-Willi Syndrome |
|
Osteopenia, Syndactyly, Kyphosis, Acromicria, Osteoporosis, Small hand, Genu valgum, Short foot, ... |
OMIM:176270 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Peripheral axonal neuropathy, Anteverted nares, Sparse eyebrow, Dysplastic corpus c... |
OMIM:618810 |
Roifman Syndrome |
|
Hepatomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, Eosinophilia, Splenomegaly... |
OMIM:616651 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Joint laxity, Osteoporosis, Finger joint hypermobility, Scoliosis |
ORPHA:363705 |
Episodic Ataxia, Type 2 |
|
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Paresthesia, Dystonia, Episodic ataxia,... |
OMIM:108500 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Cerebellar atrophy, Ureteral duplication, Epicanthus, Anal stenosis, Anteverted nares, Depressed ... |
OMIM:614080 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Neutropenia, Decreased circulatin... |
OMIM:271510 |
Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Portal vein thrombosis, Esophageal varix, Right ventricular hypertro... |
OMIM:616028 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
Huppke-Brendel Syndrome |
|
Cerebellar atrophy, Inability to walk, Cerebral atrophy, CNS hypomyelination |
OMIM:614482 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn... |
ORPHA:321 |
Lathosterolosis |
|
Toe syndactyly, Increased mean platelet volume, Acanthocytosis, Postaxial hand polydactyly, Schis... |
OMIM:607330 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria |
ORPHA:251004 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Lig4 Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Pancytopenia, Malabsorption, Cryptorchidism, Leukocytosis, Acu... |
ORPHA:99812 |
Mucopolysaccharidosis, Type Iiid |
|
Cerebellar atrophy, Hepatomegaly, Thoracic scoliosis, Pilonidal sinus, Short stature, Anteverted ... |
OMIM:252940 |
Oguchi Disease |
|
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon |
ORPHA:75382 |
Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait a... |
ORPHA:646 |
Dubin-Johnson Syndrome |
|
Abnormal urinary color, Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract... |
ORPHA:234 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Eosinophilia, Lymphadenopathy, Hepat... |
ORPHA:353298 |
Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Duodenal ... |
ORPHA:2470 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Cerebellar atrophy, Ataxia, Short stature, Polyuria, Renal salt wasting, Enuresis, Dysdiadochokin... |
OMIM:612780 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral density, Incre... |
OMIM:166220 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Short stature, Anteverted nares, Abnormal eyelash morphology, Optic atrophy, Wide nasal bridge, H... |
ORPHA:2518 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Hyperlordosis, Coxa valga, Kyphosis, Reduced bone mineral density, Genu... |
ORPHA:582 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Spinal rigidity, Short neck, Kyphosis, Flexion contracture, Elbow flexion contracture, Hyperexten... |
ORPHA:75840 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Joint hypermobility, Recurrent fractures, Scoliosis, Reduced bone mineral density |
OMIM:619115 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Generalized joint laxity, Osteoporosis, Camptodactyly |
ORPHA:432 |
Asthma, Nasal Polyps, And Aspirin Intolerance |
|
Nasal polyposis |
OMIM:208550 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Steatorrhea, Ascites, Anemia |
ORPHA:75233 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Prominent nose, High palate, Dandy-Walker malformation, Ataxia, Shor... |
OMIM:251300 |
Pelizaeus-Merzbacher Disease |
|
Recurrent respiratory infections, Ataxia, Short stature, Kyphosis, Optic atrophy, Choreoathetosis... |
ORPHA:702 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Thin upper lip vermilion, Optic disc pallor, Abnormal auditory evoked potentials, High palate, Lo... |
OMIM:617523 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Peritonitis, Abnormal endometrium morphology, Gonadal calcification, Ascites, Ab... |
ORPHA:314478 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Cataract, Proteinuria, Retinal detachment, Absen... |
OMIM:120330 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Short stature, Aganglionic megacolon, Broad nasal tip, Inability to walk, Wide nas... |
OMIM:614207 |
Arthrogryposis, Distal, With Impaired Proprioception And Touch |
|
Poor head control, Broad-based gait, Short stature, Lower limb muscle weakness, Long nose, Inabil... |
OMIM:617146 |
Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Osteoporosis, Hepatosplenomegaly, Hypoalbuminemia, Scoliosis, Anemia |
OMIM:619487 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:604393 |
Kanzaki Disease |
|
Peripheral axonal neuropathy, Distal muscle weakness, Depressed nasal bridge, Increased urinary O... |
OMIM:609242 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Resting tremor, Ataxia, Urinary incontinence, Babinski sign, Optic atrophy, C... |
ORPHA:314404 |
Lathosterolosis |
|
Abnormal thoracic spine morphology, Epicanthus, Hepatomegaly, Anteverted nares, Hypoplasia of pen... |
ORPHA:46059 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Broad long bones, Coxa valga, Wide anterior fontanel, Flared metaphysis, Genu valgum,... |
OMIM:269300 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... |
OMIM:619846 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Typical Nemaline Myopathy |
|
Waddling gait, Neck flexor weakness, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Spinal ri... |
ORPHA:171436 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Cerebellar atrophy, Elevated hepatic transaminase, Poor head control, Progressive neurologic dete... |
OMIM:618329 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El... |
OMIM:273250 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... |
OMIM:617304 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Recurrent skin infections, Short stature, Narrow nose, Malabsorption, Herpes simple... |
OMIM:233600 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect, Abnormality of the ureter, Cleft palate, Polycystic ovaries, Gonadal d... |
ORPHA:1770 |
Flynn-Aird Syndrome |
|
Cachexia, Joint stiffness, Carious teeth, Kyphosis, Bone cyst, Scoliosis |
ORPHA:2047 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hepatic fibrosis, Polycystic ovaries |
ORPHA:280356 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Splenomegaly, Polycystic ovaries, Cirrhosis, Hypertrophic cardiomyopathy, Hepatic s... |
ORPHA:79083 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Microglossia, Ascites |
OMIM:253250 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular volume, B... |
OMIM:127550 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Gastroesophageal reflux, Cardiomegaly, Oligosacchariduria |
ORPHA:3137 |
Cryptococcosis |
|
Lymphoid leukemia, Osteomyelitis, Osteolysis |
ORPHA:1546 |
Attrv122I Amyloidosis |
|
Abnormal enteric nervous system morphology, Cardiomegaly, Cardiac amyloidosis, Hypertrophic cardi... |
ORPHA:85451 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Thrombocytopenia, Cardiomyopathy, Neutropenia, P... |
ORPHA:79312 |
Werner Syndrome |
|
Increased bone mineral density, Rocker bottom foot, Joint stiffness, Small hand, Osteoporosis |
ORPHA:902 |
Peroxisome Biogenesis Disorder 10B |
|
Nephrocalcinosis, Neurogenic bladder, Cataract |
OMIM:617370 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, H... |
OMIM:602782 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... |
OMIM:601859 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho... |
ORPHA:2978 |
Primary Biliary Cholangitis |
|
Increased circulating IgA level, Conjugated hyperbilirubinemia, Osteoporosis, Increased circulati... |
ORPHA:186 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Telecanthus, Delayed CNS myelination, Wide nose, Epistaxis, Highly arched eyebrow, Short neck, Sp... |
ORPHA:495818 |
Joubert Syndrome 30 |
|
Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malformation, Ptosis |
OMIM:617622 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune ... |
ORPHA:436159 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Renal insufficiency, Skin rash, Proteinuria, Pustule, Orchitis, Hemiplegia/hemipare... |
ORPHA:761 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Waddling gait, Elevated hepatic transaminase, Wide nose, Elevated circulating aspartate aminotran... |
OMIM:300280 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Trisomy 13 |
|
Displacement of the urethral meatus, Abnormal eyelash morphology, Kyphosis, Cryptorchidism, High,... |
ORPHA:3378 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Kyphoscoliosis, Severe generalized osteoporosis, Hypoplastic pubic bone, Cone-sh... |
OMIM:210730 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Chikungunya |
|
Joint stiffness, Periostitis, Osteolysis, Synovitis, Enthesitis, Arthritis, Stiff interphalangeal... |
ORPHA:324625 |
Granulomatosis With Polyangiitis |
|
Retinal hemorrhage, Oral ulcer, Weight loss, Concave nasal ridge, Nasal mucosa vasculitis |
OMIM:608710 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Microphthalmia, Syndromic 9 |
|
Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Multilobu... |
OMIM:601186 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Failure to thrive, Joint hyperflexibility |
ORPHA:319199 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Classic Homocystinuria |
|
Arachnodactyly, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Genu valgum, Scoliosis |
ORPHA:394 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Appendicular spasticity, Epicanthus, Cerebellar vermis hypoplasia, Sparse eyelashes, Short statur... |
OMIM:620070 |
Stickler Syndrome, Type V |
|
Retinal detachment, Cataract |
OMIM:614284 |
Ciliary Dyskinesia, Primary, 42 |
|
Recurrent sinusitis, Nasal polyposis, Chronic rhinitis |
OMIM:618695 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Angioedema, Hereditary, 1 |
|
Peripheral axonal neuropathy, Intestinal edema, Hypoesthesia, Axonal degeneration, Muscle weakness |
OMIM:106100 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Richards-Rundle Syndrome |
|
Joint stiffness, Reduced bone mineral density |
ORPHA:1399 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Poretti-Boltshauser Syndrome |
|
Retinal thinning, Retinal atrophy, Retinal dystrophy |
OMIM:615960 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Limitation o... |
OMIM:313400 |
Pycnodysostosis |
|
Decreased response to growth hormone stimulation test, Generalized osteosclerosis, High palate, J... |
ORPHA:763 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Dilated cardiomyopathy, Cholestasis, Lym... |
OMIM:615895 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cholangitis, Microvesicular hepatic steatosis, Tubulointerstitial nephritis, Aminoaciduria, Glios... |
OMIM:124000 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph... |
ORPHA:507 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Enlarged kidney, ... |
OMIM:232200 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Microvesicular hepatic steatosis, Cardiomyopat... |
OMIM:212140 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... |
OMIM:615234 |
Joubert Syndrome 6 |
|
Retinal degeneration, Bile duct proliferation, Hepatic fibrosis, Chorioretinal coloboma |
OMIM:610688 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Lethal Kniest-Like Dysplasia |
|
Short neck, Mesomelic/rhizomelic limb shortening, Abnormal cartilage morphology, Abnormal cartila... |
ORPHA:2347 |
Phakomatosis Pigmentovascularis |
|
Reduced bone mineral density |
ORPHA:2875 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis |
OMIM:242670 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Increased susceptibility to fractures, Reduced bone m... |
ORPHA:561 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal... |
OMIM:301068 |
Familial Paroxysmal Ataxia |
|
Torticollis, Ataxia, Dystonia, Hemiplegia, Cerebellar vermis atrophy |
ORPHA:97 |
Trichothiodystrophy |
|
Congenital exfoliative erythroderma, High, narrow palate, Partial agenesis of the corpus callosum... |
ORPHA:33364 |
Cimdag Syndrome |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia, Microvesicular hepatic steatosis, Chorea, Cer... |
OMIM:619273 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Kyphosis, Flexion contracture, Osteoporosis, Small hand, Short foot, Hip dysplasia, S... |
ORPHA:398069 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Osteoporosis |
ORPHA:2326 |
Farber Disease |
|
Thrombocytopenia, Short toe, Flexion contracture, Osteoporosis, Hepatosplenomegaly, Arthritis, Sh... |
ORPHA:333 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Ciliary Dyskinesia, Primary, 19 |
|
Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms |
OMIM:614935 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy |
OMIM:616502 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Optic neuropathy, Splenomegaly, Enlarged lacrimal glands, Weight loss, Chorioretini... |
OMIM:181000 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Recurrent fractures, Vertebral compression fracture, Reduced bone mineral density, Sc... |
OMIM:112240 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Zaki Syndrome |
|
Dilated fourth ventricle, Sacral dimple, Cerebellar vermis hypoplasia, Short stature, Anteverted ... |
OMIM:619648 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Epicanthus, Depressed nasal bridge, Tremor, Kyphosis, Synophrys, Bulbous nose... |
OMIM:617061 |
Spinocerebellar Ataxia 27A |
|
Cerebellar atrophy, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abno... |
OMIM:193003 |
Coffin-Lowry Syndrome |
|
Epicanthus, Wide nose, Short stature, Anteverted nares, Depressed nasal bridge, Kyphosis, Optic a... |
ORPHA:192 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Angulated humerus, Bowing of the long bones, Recurrent fractures, Decreased calvarial... |
OMIM:616229 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Overgrowth of external genitalia, Precocious puberty in females, Polycystic ovaries... |
ORPHA:528 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Scoliosis, Arthrogryposis m... |
ORPHA:2671 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Short neck, Tremor, Synophrys, High palate, Recurrent aspiration pneumonia, Anteverted nares, Ath... |
ORPHA:280633 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Short neck, Long nose, Prominent nose, Subcortical cerebral atrophy, Highly arched eyebrow, Optic... |
ORPHA:2995 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Cataract, Band keratopathy, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasti... |
OMIM:604278 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Abnormal metaphyseal trabeculation, Flare... |
OMIM:224300 |
Cardiofaciocutaneous Syndrome 3 |
|
Scoliosis, Reduced bone mineral density |
OMIM:615279 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Ankle clonus, Recurrent bacterial infec... |
OMIM:308230 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Hypospadias, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Ele... |
ORPHA:96179 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Delayed CNS myelination, Neurogenic bladder, Oromotor apraxia, Optic atrophy,... |
ORPHA:466934 |
Refsum Disease, Classic |
|
Anosmia, Rod-cone dystrophy, Elevated circulating phytanic acid concentration, Retinal degeneration |
OMIM:266500 |
Chromosome 10Q26 Deletion Syndrome |
|
Short attention span, Epicanthus, Lumbar hyperlordosis, Short stature, Broad-based gait, Small sc... |
OMIM:609625 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Hemoly... |
OMIM:619644 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Brucellosis |
|
Liver abscess, Chorea, Knee osteoarthritis, Abnormality of the liver, Infectious encephalitis, He... |
ORPHA:1304 |
Zimmermann-Laband Syndrome 2 |
|
Short stature, Short neck, Kyphosis, Deep philtrum, Gingival overgrowth, Macroglossia, Thick verm... |
OMIM:616455 |
Plaa-Associated Neurodevelopmental Disorder |
|
Bulbar palsy, Exaggerated startle response, Rigidity, Kyphosis, Delayed myelination, Optic atroph... |
ORPHA:521426 |
Hurler Syndrome |
|
Progressive neurologic deterioration, Short neck, Hepatomegaly, Short stature, Anteverted nares, ... |
OMIM:607014 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Intestinal obstruction, Nasal polyposis, Malabsorption, Weight loss, Central nervous system degen... |
ORPHA:183 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Hyperlipidemia, Osteoporosis, Gout, Hyperuricemia, Neutropenia |
OMIM:232220 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Severe short stature, Limb joint contracture, Abnor... |
ORPHA:93314 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Splenomegaly, Micron... |
OMIM:606003 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Tick-Borne Encephalitis |
|
Back pain, Tremor, Tongue fasciculations, Fatigable weakness of respiratory muscles, Meningitis, ... |
ORPHA:297 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... |
OMIM:612965 |
Rhabdoid Tumor |
|
Lymphadenopathy, Hematuria, Neoplasm of the liver, Anemia, Thrombocytopenia |
ORPHA:69077 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis |
OMIM:619658 |
Galloway-Mowat Syndrome 10 |
|
Cerebellar atrophy, Diffuse mesangial sclerosis, Delayed CNS myelination, Proteinuria, Stage 5 ch... |
OMIM:619609 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Malabsorption, Splenomegaly, Mediastinal... |
ORPHA:379 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Unilateral renal agenesis, Septate vagina, Uterus didelp... |
ORPHA:2237 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Optic disc pallor, Epicanthus, Short stature, Optic nerve hypoplasia, P... |
OMIM:300749 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia |
ORPHA:99931 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... |
OMIM:618849 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Brachydactyly, Abnormal distal phalanx morphology of f... |
ORPHA:2636 |
Mosaic Variegated Aneuploidy Syndrome |
|
Acute lymphoblastic leukemia, Clinodactyly of the 5th finger, Osteolysis |
ORPHA:1052 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Sacral dimple, Wide nose, Short stature, Depressed nasal bridge, Broad nasal tip, Long nose, Wide... |
OMIM:619995 |
Rhizomelic Syndrome, Urbach Type |
|
Rhizomelia, Short stature, Short neck, Kyphosis, Limitation of joint mobility, Abnormality of the... |
ORPHA:3098 |
Pontocerebellar Hypoplasia, Type 10 |
|
Highly arched eyebrow, Short neck, Kyphoscoliosis, Cryptorchidism, Synophrys, Delayed myelination... |
OMIM:615803 |
Verheij Syndrome |
|
Vertebral fusion, Short stature, Optic nerve hypoplasia, Anteverted nares, Short neck, Broad nasa... |
OMIM:615583 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Underdeveloped nasal alae, Elevated amnio... |
ORPHA:423479 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rhizom... |
ORPHA:1354 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Cerebellar vermis hypoplasia, Small scrotum, Renal cyst, Microphallus, Vesicoureteral reflux, Del... |
OMIM:618454 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... |
OMIM:112250 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Optic disc pallor, Hepatomegaly, Poor head control, Ataxia, 3-hydroxydicarbox... |
OMIM:252010 |
46,Xx Gonadal Dysgenesis |
|
Osteopenia, Osteoporosis of vertebrae, Arachnodactyly, Reduced bone mineral density |
ORPHA:243 |
Singleton-Merten Syndrome 2 |
|
Osteopenia, Scoliosis, Osteolytic defects of the phalanges of the hand |
OMIM:616298 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk... |
ORPHA:824 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Lumbar hyperlordosis, Kyphosis, Osteoporosis, Triphalangeal thumb, Contracture of the... |
ORPHA:2232 |
Biotinidase Deficiency |
|
Hepatomegaly, Diffuse cerebral atrophy, Ataxia, Skin rash, Recurrent skin infections, Seborrheic ... |
OMIM:253260 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Kyphos... |
OMIM:225400 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Broad femoral neck, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull... |
OMIM:619727 |
Schaaf-Yang Syndrome |
|
Short stature, Abnormality of the philtrum, Failure to thrive in infancy, Cryptorchidism, Kyphosi... |
OMIM:615547 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Cataract, Astigmatism, Retinal coloboma, Nephrob... |
ORPHA:500095 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Cerebellar atrophy, Short stature, Anteverted nares, Depressed nasal bridge, Hypoplasia of the po... |
OMIM:616430 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Epicanthus, Short stature, Short neck, Inability to walk, Bulbous nose, Wide nasal bridge, Cleft ... |
OMIM:618571 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Proteinuria, Hypoplasi... |
OMIM:609049 |
Galloway-Mowat Syndrome 9 |
|
Cerebellar atrophy, Diffuse mesangial sclerosis, Hiatus hernia, Almond-shaped palpebral fissure, ... |
OMIM:619603 |
Immunodeficiency 13 |
|
Recurrent sinusitis, Nasal polyposis, Recurrent upper respiratory tract infections |
OMIM:615518 |
Nocardiosis |
|
Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Keratitis, Lymphadenitis, M... |
ORPHA:31204 |
Familial Infantile Myoclonic Epilepsy |
|
Cerebellar atrophy, Ataxia, Clumsiness, Blepharospasm, Gait disturbance, Limb myoclonus |
ORPHA:352582 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho... |
ORPHA:64753 |
Peho Syndrome |
|
Cerebellar atrophy, Recurrent respiratory infections, Epicanthus, Palpebral edema, Anteverted nar... |
ORPHA:2836 |
Familial Mediterranean Fever |
|
Pericarditis, Intestinal obstruction, Proteinuria, Malabsorption, Orchitis, Splenomegaly, Periton... |
ORPHA:342 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Lower limb spasticity, Lower limb muscle weakness, Optic neuropathy, Tibialis muscle weakness, Op... |
ORPHA:320375 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
High, narrow palate, Male urethral meatus stenosis, Agenesis of corpus callosum, Anteverted nares... |
ORPHA:464738 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Joint stiffness, Broad metatarsal, Elbow flexion contract... |
OMIM:608328 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating lactate dehydrogenase concentr... |
ORPHA:98908 |
Stt3A-Cdg |
|
Cerebellar atrophy, Cryptorchidism, Micropenis, Small scrotum |
ORPHA:370921 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Cardiomegaly |
OMIM:600649 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,... |
ORPHA:2795 |
Ruvalcaba Syndrome |
|
Short stature, Dental crowding, Cryptorchidism, Kyphosis, Scoliosis, Delayed puberty, Limited elb... |
OMIM:180870 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Viral hepatitis, Proteinuria, Spl... |
ORPHA:91138 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Ciliary Dyskinesia, Primary, 22 |
|
Nasal polyposis, Rhinitis, Recurrent sinusitis, Absent inner and outer dynein arms |
OMIM:615444 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Ectopic kidney, Cleft palate, Hypoplasia of the uterus, Azoospermia, B... |
OMIM:601076 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Proteinuria, Heparan sulfate excretion in urine, Optic atrop... |
ORPHA:505248 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Pyloric stenosis, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Absence of lymph node germinal center |
OMIM:606843 |
Hemifacial Atrophy, Progressive |
|
Tongue atrophy, Ataxia, Kyphosis, Horner syndrome, Blepharophimosis |
OMIM:141300 |
Cinca Syndrome |
|
Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, Splenomegaly, ... |
ORPHA:1451 |
Blau Syndrome |
|
Facial palsy, Abnormal retinal vascular morphology, Retrobulbar optic neuritis, Splenomegaly, Xer... |
ORPHA:90340 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Osteoporosis, Small hand, Short foot, Hip dysplasia, Scoliosis |
ORPHA:98754 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Anteverted nares, Hypospadias, Kyphosis, Recurrent pneumonia, Cerebral atrophy, Cleft... |
OMIM:616449 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated hepatic transaminase, Proximal muscle weakness, Progressive proximal muscle weakness, Pr... |
OMIM:620138 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Cerebellar vermis hypoplasia, Respiratory insufficiency due to muscle weakness, Ky... |
OMIM:618291 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Diffuse cerebral atrophy, Small scrotum, Partial agenesis of the corpus callosum, ... |
OMIM:270400 |
Arthrogryposis, Distal, Type 5 |
|
Short stature, Limited wrist extension, Kyphosis, Distal arthrogryposis, High palate, Scoliosis, ... |
OMIM:108145 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Cataract, Stage 5 chr... |
OMIM:308940 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... |
ORPHA:75564 |
Pontocerebellar Hypoplasia, Type 17 |
|
Paroxysmal dystonia, Epicanthus, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Kyphosis, ... |
OMIM:619909 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Abnormal heart valve morphology, Pericardial effu... |
ORPHA:36412 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Kyphosis, Inability to walk, Babinski sign, Opti... |
OMIM:609541 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Pyloric stenosis, Horseshoe kidney |
OMIM:218350 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration |
OMIM:264420 |
Ciliary Dyskinesia, Primary, 30 |
|
Nasal congestion, Absent outer dynein arms, Nasal polyposis |
OMIM:616037 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Aplas... |
OMIM:266810 |
Post-Traumatic Pituitary Deficiency |
|
Osteopenia, Osteoporosis of vertebrae |
ORPHA:95619 |
Trisomy 20P |
|
Short neck, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Anteverted nare... |
ORPHA:261318 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Osteoporosis, Small hand, Short foot, Hip dysplasia, Scoliosis |
ORPHA:98793 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Conjunctival telangiectasia, Impaired vibration sensation in the lower limbs, Optic atrophy, Gait... |
ORPHA:95433 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Recurrent respiratory infections, Severe short stature, Anteverted nares, Short neck, Hyperlordos... |
ORPHA:1797 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Prader-Willi Syndrome |
|
Osteopenia, Small hand, Osteoporosis, Increased susceptibility to fractures, Short foot, Hip dysp... |
ORPHA:739 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Iris coloboma |
OMIM:212550 |
Spinocerebellar Ataxia Type 7 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Ophthalmoplegia, Babinski sign, Cerebral... |
ORPHA:94147 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia,... |
OMIM:304790 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Epicanthus, Telecanthus, Anteverted nares, Depressed nasal brid... |
OMIM:147791 |
Cockayne Syndrome Type 2 |
|
Hepatomegaly, Lower limb spasticity, Ataxia, Kyphosis, Cryptorchidism, Uveitis, Male hypogonadism... |
ORPHA:90322 |
Anaplastic Thyroid Carcinoma |
|
Tracheoesophageal fistula, Lymphadenopathy, Dysphagia, Nodular goiter, Goiter |
ORPHA:142 |
Wilson Disease |
|
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, ... |
OMIM:277900 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Osteoporosis, Small hand, Short foot, Hip dysplasia, Scoliosis |
ORPHA:177904 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:612138 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Abnormal spermatogenesis, Azoospermia, Ovarian cyst, Elevated circ... |
OMIM:228300 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibial bowing, Hypocalcemia,... |
ORPHA:175 |
Mucopolysaccharidosis, Type Vii |
|
Short neck, Reduced leukocyte beta-glucuronidase activity, Anterior beaking of lumbar vertebrae, ... |
OMIM:253220 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Osteoporosis, Small hand, Short foot, Hip dysplasia, Scoliosis |
ORPHA:177901 |
Gillespie Syndrome |
|
Cerebellar atrophy, Ataxia, Postural tremor, Slurred speech, Cerebellar hypoplasia |
OMIM:206700 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph... |
OMIM:235255 |
Senior-Loken Syndrome 8 |
|
Retinal dystrophy, Macular atrophy, Hepatic cysts, Pancreatic cysts, Rod-cone dystrophy, Intrahep... |
OMIM:616307 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ... |
ORPHA:276 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Bowing of the legs, Kyphosis, Osteoporosis, Osteolysis, Diaphyseal dysplasia, Beaking... |
ORPHA:97685 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Lower limb spasticity, Cerebral palsy, Ataxia, Abnormal neuron morphology, Precocio... |
ORPHA:163681 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Keratoconjunctivitis sicca, Enlarged kidney |
ORPHA:79128 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Corpus callosum atrophy, Optic atrophy, Dystonic gait, Cerebral atrophy, Scoliosis, Diffuse cereb... |
ORPHA:480898 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Intestinal malrotation, Abnormal... |
ORPHA:404440 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Exocrine panc... |
OMIM:612714 |
Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Short stature, Anteverted nares, Depressed nasal bridge, Inabil... |
ORPHA:97297 |
Rett Syndrome |
|
Dystonia, Short stature, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal ataxia, Spastici... |
OMIM:312750 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Splenomegaly, Thrombocy... |
OMIM:278000 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent sinusitis, Nasal polyposis, Chronic rhinitis |
OMIM:608647 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia, Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... |
OMIM:607765 |
Crisponi Syndrome |
|
Camptodactyly of finger, Kyphosis, Narrow mouth, Flexion contracture, Limitation of joint mobilit... |
ORPHA:1545 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Villous atrophy, Splenomegaly, Enterocolitis, Anemia, Reduced natural killer cell c... |
OMIM:616050 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Hypo... |
OMIM:613673 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... |
ORPHA:90797 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Broad toe, Brachydactyly, Short humerus, Sagittal craniosynostosis, Broad distal ph... |
OMIM:218330 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Joint laxity, Short stature, Kyphoscoliosis, Advanced ossification of carpal bones, C... |
OMIM:615349 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... |
ORPHA:277 |
Cystic Fibrosis |
|
Absent vas deferens, Nasal polyposis, Meconium ileus, Malabsorption, Rectal prolapse, Abnormality... |
ORPHA:586 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618987 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Joint stiffness, Flexion contracture, Reduced bone mineral density, Abnormal circulating lipid co... |
ORPHA:1979 |
19P13.12 Microdeletion Syndrome |
|
Narrow nasal bridge, Epicanthus, Anteverted nares, Hypospadias, Short neck, Aplasia/Hypoplasia of... |
ORPHA:254346 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Poor head control, Anteverted nares, Depressed nasa... |
ORPHA:1934 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Cerebellar vermis hypoplasia, Wide nasal bridge, CNS hypomyelination, Micropenis, Recurrent aphth... |
OMIM:615966 |
Vacterl/Vater Association |
|
Bifid scrotum, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Ectopic kidney, Ab... |
ORPHA:887 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Renal insufficien... |
ORPHA:90291 |
Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:607115 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Hyperlipidemia, Osteoporosis, Increased susceptibility to fractures |
ORPHA:189427 |
Fountain Syndrome |
|
Craniofacial hyperostosis, Short stature, Kyphosis, Thick lower lip vermilion, Gingival overgrowt... |
ORPHA:3219 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... |
ORPHA:2975 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Cerebellar atrophy, Prominent nasal bridge, Hyperlordosis, Sparse eyebrow, Kyphosis, Gait ataxia,... |
OMIM:617011 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Epicanthus, Palpebral edema, Depressed nasal bridge, Kyphosis, Bulbous nose, Growth delay, Macrog... |
ORPHA:261144 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Torticollis, Broad-based gait, Peroneal muscle weakness, Facial palsy, Progressive distal muscle ... |
OMIM:181405 |
Cystic Fibrosis |
|
Hepatomegaly, Nasal polyposis, Meconium ileus, Rectal prolapse, Ileus, Biliary cirrhosis, Hepatos... |
OMIM:219700 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Ventricular septal defect, Cardiomegaly, Cleft palate, Hypertrophic cardiomyopathy, ... |
OMIM:616897 |
Ciliary Dyskinesia, Primary, 2 |
|
Nasal polyposis, Absent inner and outer dynein arms |
OMIM:606763 |
Smith-Mccort Dysplasia 1 |
|
Multicentric femoral head ossification, Short stature, Short neck, Hypoplasia of the odontoid pro... |
OMIM:607326 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Cerebellar atrophy, Renal insufficiency, Postural tremor, Proteinuria, Action tremor, Unsteady ga... |
OMIM:254900 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Metaphyseal chondrodysplasia, Reduced bone mineral density |
ORPHA:83629 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno... |
ORPHA:39041 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... |
OMIM:263300 |
8P Inverted Duplication/Deletion Syndrome |
|
Anteverted nares, Short neck, Precocious puberty, Cryptorchidism, Synophrys, High, narrow palate,... |
ORPHA:96092 |
D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Hepatomegaly, Epicanthus, Elevated hepatic transaminase, Depressed nasal brid... |
OMIM:261515 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit... |
ORPHA:79456 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Retinal degeneration |
OMIM:616896 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, High, narrow palate, Vertebral segmentation defect, Vesicoureteral reflux, ... |
ORPHA:96169 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged polycysti... |
ORPHA:744 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... |
OMIM:617994 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Short neck, Anteriorly placed anus, High palate, Cerebral hypomyelination, Bifid uvula, Ataxia, H... |
ORPHA:247262 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Protruding tongue, Abnormal atrioventricular valve morphology, Mitral valve prolaps... |
ORPHA:324410 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Prominent nose, Corpus callosum atrophy, Kyphosis, Cryptorchidism, Cerebra... |
OMIM:619244 |
Bilateral Polymicrogyria |
|
Cerebellar atrophy, Spastic tetraparesis, Spastic hemiparesis, Abnormal pyramidal sign, Facial di... |
ORPHA:268940 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... |
ORPHA:52427 |
Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis... |
ORPHA:829 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone marrow hypocellularity... |
OMIM:619151 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Depressed nasal ridge, Renal cyst, Abnormality of... |
ORPHA:1606 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperphosphaturia, Pancytopenia, Elevated circulating growth hor... |
ORPHA:562 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Recurrent fractures, Reduced bone mineral density |
ORPHA:137608 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, High palate, Lymphadenopathy, Hepatosplenomegaly |
OMIM:619750 |
Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis |
OMIM:604571 |
Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis |
OMIM:613808 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Neoplasm of the ... |
ORPHA:454840 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Atro... |
OMIM:614700 |
Hypomelanosis Of Ito |
|
Kyphosis, Epicanthus, Scoliosis, Cerebral atrophy |
OMIM:300337 |
Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Gastroesophageal reflux, Splenic cy... |
OMIM:618188 |
Glass Syndrome |
|
Arachnodactyly, Anterior tibial bowing, Generalized osteoporosis, Camptodactyly |
OMIM:612313 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Alg9-Cdg |
|
Villous atrophy, Short neck, Shallow orbits, Bifid uvula, Hepatomegaly, Rhizomelia, Depressed nas... |
ORPHA:79328 |
Dyskeratosis Congenita |
|
Recurrent fractures, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Osteoporosis, Bo... |
ORPHA:1775 |
Fanconi Anemia, Complementation Group L |
|
Short neck, Micropenis, Delayed CNS myelination, Esophageal atresia, Wide nasal bridge, Renal hyp... |
OMIM:614083 |
Harrod Syndrome |
|
Cryptorchidism, Kyphosis, Dental malocclusion, Joint hyperflexibility, High palate, Scoliosis, Na... |
ORPHA:2115 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute... |
ORPHA:220460 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly |
OMIM:614702 |
Tyrosinemia, Type I |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer... |
OMIM:276700 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Stage 5 chro... |
OMIM:268315 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, Hepatosplenomeg... |
ORPHA:313855 |
Canavan Disease |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:141 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Peritoniti... |
ORPHA:2686 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt... |
ORPHA:1332 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... |
OMIM:129900 |
Nephroblastoma |
|
Hematuria, Neoplasm of the liver, Lymphadenopathy |
ORPHA:654 |
Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l... |
ORPHA:3392 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Joint laxity, Spinal rigidity, Kyphosis, Distal joint laxity, Flexion contracture, Hyperextensibi... |
OMIM:254090 |
Aspartylglucosaminuria |
|
Abnormal morphology of ulna, Joint stiffness, Splenomegaly, Arthritis, Scoliosis, Anterior beakin... |
ORPHA:93 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Conjugated hyperbilirubinemia, J... |
OMIM:208500 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Congenital kyphoscoliosis, Congenital hip dislocation, Arachnodactyly, Kyphoscoliosis... |
ORPHA:536545 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:99978 |
Coach Syndrome 1 |
|
Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Splenomegaly, Multiple small medull... |
OMIM:216360 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Epicanthus, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Protruding tongue, Postnata... |
OMIM:301040 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Subaortic Stenosis-Short Stature Syndrome |
|
Short stature, Short neck, Kyphosis, Obesity, Scoliosis, Microdontia, Synostosis of carpal bones |
ORPHA:3191 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Elevated circulating creatine kinase concentration, Cachexia... |
ORPHA:1933 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
Sandhoff Disease |
|
Hepatomegaly, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Macroglossia |
OMIM:268800 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Hypertonia, Hepatic steatosis, Hepatomegaly, Chilblains, Hepatitis, Nephrotic... |
OMIM:615846 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Lumbar Syndrome |
|
Bifid scrotum, Ambiguous genitalia, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia ... |
ORPHA:83628 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Frontonasal Dysplasia 2 |
|
Telecanthus, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Sparse eyelashes, Aplas... |
OMIM:613451 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Hepatomegaly, Severe short stature, Short stature, Decreased iduronate sulfatase lev... |
OMIM:309900 |
Thyroid Lymphoma |
|
Goiter, Dysphagia, Lymphadenopathy |
ORPHA:97285 |
Glycerol Kinase Deficiency |
|
Pathologic fracture, Hypertriglyceridemia, Osteoporosis, Hyperglycerolemia |
OMIM:307030 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Adrenomyodystrophy |
|
Reduced bone mineral density |
ORPHA:977 |
Leukodystrophy, Hypomyelinating, 12 |
|
Cerebellar atrophy, Neurogenic bladder, Delayed myelination, Optic atrophy, Cerebral hypomyelinat... |
OMIM:616683 |
Argininemia |
|
Cerebellar atrophy, Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Oroticaci... |
OMIM:207800 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Pancytopenia, Rickets, Reduced bone mineral density, Anemia, Hypoalbumi... |
OMIM:613658 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Choanal atresia, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gl... |
OMIM:154500 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... |
OMIM:300048 |
Papa Syndrome |
|
Proteinuria, Crohn's disease, Lymphadenopathy |
ORPHA:69126 |
Tarp Syndrome |
|
Meckel diverticulum, Cerebellar vermis hypoplasia, Anteverted nares, Optic atrophy, Wide nasal br... |
OMIM:311900 |
Thrombocytopenia-Absent Radius Syndrome |
|
Horseshoe kidney, Cleft palate, Abnormal cardiac septum morphology, Aplasia of the uterus, Tetral... |
ORPHA:3320 |
Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Asplenia, Absent outer dynein arms, Anosmia, Chronic rhinitis |
OMIM:244400 |
Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Cleft palate |
ORPHA:247768 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Underdeveloped nasal alae, Hypoautofluorescent retinal lesion, Thick vermilion border, Rod-cone d... |
OMIM:250410 |
Lacrimoauriculodentodigital Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E... |
ORPHA:2363 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Cerebellar atrophy, Ataxia, Optic atrophy, Dementia, Cataplexy, Memory impairment, Spasticity |
OMIM:604121 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to gr... |
OMIM:604292 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Delayed CNS myelination, Anteverted nares, Depressed nasal bridge, Highly arched ey... |
OMIM:619005 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis, Cataract |
OMIM:146200 |
Intellectual Disability, Buenos-Aires Type |
|
Clinodactyly of the 5th finger, Abnormal pelvic girdle bone morphology, Cuboid-shaped thoracolumb... |
ORPHA:3079 |
X-Linked Intellectual Disability, Cabezas Type |
|
Epicanthus, Broad-based gait, Short stature, Hypoplasia of penis, Short neck, Tremor, Kyphosis, S... |
ORPHA:85293 |
Donohue Syndrome |
|
Precocious puberty, Long penis, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic islet-cel... |
OMIM:246200 |
Mucolipidosis Iii Gamma |
|
Short stature, Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Scoliosis |
OMIM:252605 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Increased hepatic glycogen content, Hepatomegaly |
OMIM:261750 |
Sézary Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:3162 |
Mogs-Cdg |
|
Hepatomegaly, Atrial septal defect, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly... |
ORPHA:79330 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
OMIM:613179 |
Postencephalitic Parkinsonism |
|
Resting tremor, Camptocormia, Involuntary movements, Akinesia, Oculogyric crisis, Rigidity, Bilat... |
ORPHA:97349 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... |
ORPHA:3130 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Decreased circulating total Ig... |
OMIM:612301 |
Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Kyphoscoliosis, Short thumb, Osteoporosis, Small hand, Short foot, Sh... |
OMIM:268400 |
Wolf-Hirschhorn Syndrome |
|
Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the cerebellum, Chronic otitis media... |
ORPHA:280 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Ulcerative colitis, Colitis, Decreased basophil count, Crohn's diseas... |
OMIM:618394 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Arachnodactyly, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Slender to... |
ORPHA:3063 |
Pseudoachondroplasia |
|
Joint laxity, Lumbar hyperlordosis, Limited hip extension, Hypoplasia of the odontoid process, Ky... |
OMIM:177170 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ... |
ORPHA:1772 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Elevated circulating creatine kinase concentration, Retinal degeneration |
OMIM:615249 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Steatorrhea |
OMIM:235555 |
Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... |
ORPHA:67042 |
Neuromuscular Oculoauditory Syndrome |
|
Epicanthus, Poor head control, Unsteady gait, Peripheral hypomyelination, Multiple renal cysts, R... |
OMIM:618733 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Renal tubular acidosis, Hepatic steatosis |
OMIM:255120 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Bulbar palsy, Exaggerated startle response, Rigidity, Kyphosis, Delayed myelination, Babinski sig... |
OMIM:617527 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Progressive proximal muscle ... |
ORPHA:368 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Vertebral fusion, Hyperlordosis, Proximal muscle weakness, Kyphosis, Exercise-indu... |
OMIM:607155 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cerebellar atrophy, Short stature, Ataxia, Optic atrophy, Abnormal CNS myelination, Hypogonadism |
OMIM:610651 |
Thanatophoric Dysplasia |
|
Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibility, Platyspo... |
ORPHA:2655 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Overweight, Atrophy of the spinal cord, Abnormality of pattern visual ev... |
ORPHA:2822 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic... |
OMIM:127000 |
Cowden Syndrome 1 |
|
Colonic diverticula, Furrowed tongue, Hydrocele testis, Ovarian cyst, Hamartomatous polyposis, Hi... |
OMIM:158350 |
9P13 Microdeletion Syndrome |
|
Epicanthus, Short stature, Anteverted nares, Highly arched eyebrow, External genital hypoplasia, ... |
ORPHA:324313 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... |
OMIM:616468 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Cleft palate, Sex reversal, Hypoplasia of the uterus, ... |
OMIM:154230 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Slender build, High palate, Scoliosis |
OMIM:300676 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Elevated circulating creatine kinase... |
OMIM:236670 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Cerebellar atrophy, Short stature, Decreased response to growth hormone stimulation test, Cerebra... |
OMIM:618922 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Hepati... |
ORPHA:42 |
Acute Transverse Myelitis |
|
Back pain, Urinary incontinence, Dissociated sensory loss, Impaired proprioception, Upper limb mu... |
ORPHA:139417 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Abnormality of the gastrointestinal tract, Renal insufficiency, Proteinuria, Pericard... |
ORPHA:93552 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly |
OMIM:618107 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone level, Testicular ne... |
ORPHA:99429 |
Syndromic Diarrhea |
|
Hepatomegaly, Atrial septal defect, Villous atrophy, Bicuspid aortic valve, Ventricular septal de... |
ORPHA:84064 |
White-Sutton Syndrome |
|
Cerebellar atrophy, Delayed CNS myelination, Incoordination, Short stature, Depressed nasal bridg... |
ORPHA:468678 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Optic disc pallor, External ophthalmoplegia, Optic atrophy, Growth delay, Spa... |
ORPHA:485421 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... |
ORPHA:1215 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Limitation of joint mobility, Scoliosis, Congenital foot contractures |
ORPHA:3454 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing, Coronal cleft vertebrae, De... |
OMIM:620076 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... |
ORPHA:2494 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macroglossia, High pala... |
OMIM:617022 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Macular degeneration, Retinal degeneration |
OMIM:270700 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Peritonitis, Lymphadenopathy |
ORPHA:343 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, High palate, Thrombocytopenia |
ORPHA:85212 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Osteoporosis, Gout, Increa... |
ORPHA:79259 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf... |
ORPHA:449395 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Cerebellar atrophy, Hypoparathyroidism, Depressed nasal bridge, Precocious puberty, High, narrow ... |
ORPHA:369837 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abnormal urinary color, Abnormality of the lymphatic system, Abnorma... |
ORPHA:538 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... |
ORPHA:79124 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Hematochezia, Acholic ... |
OMIM:613812 |
Ruvalcaba Syndrome |
|
Dental crowding, Cryptorchidism, Thin vermilion border, Narrow mouth, Abnormality of visual evoke... |
ORPHA:3121 |
Schinzel-Giedion Syndrome |
|
Short neck, Vocal cord paralysis, Renal cyst, Chiari type I malformation, Anteriorly placed anus,... |
ORPHA:798 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Joint ... |
ORPHA:2062 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Severe short stature, Short neck, Kyphosis, Splenomegaly, Depressed nasal ridge, Hy... |
OMIM:230500 |
Prolactinoma |
|
Osteopenia, Osteoporosis |
ORPHA:2965 |
Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney |
OMIM:612651 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Distal muscle weakness,... |
ORPHA:477817 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Abnormality of the spleen, Abnormality of the liver, G... |
ORPHA:33276 |
3M Syndrome |
|
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Hyperlordosis, Short... |
ORPHA:2616 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Cerebellar atrophy, Delayed CNS myelination, Exaggerated startle response, Short stature, Epiblep... |
OMIM:618367 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, Labial hypertrophy, Neph... |
OMIM:269700 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ... |
ORPHA:71505 |
Slc39A8-Cdg |
|
Cerebellar atrophy, Poor head control, Short stature, Inability to walk, Recurrent infections, Ab... |
ORPHA:468699 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Thrombocytopenia, Di... |
ORPHA:398124 |
White-Sutton Syndrome |
|
Failure to thrive, Depressed nasal bridge, Optic nerve hypoplasia, Broad nasal tip, Obesity, Clef... |
OMIM:616364 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Ventricular septal defect, Malabsorption... |
ORPHA:912 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocyto... |
ORPHA:77293 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Hypertonia, Gliosis, ... |
ORPHA:268261 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Short attention span, Epicanthus, Telecanthus, Ataxia, Broad-based gait, Exaggerated startle resp... |
ORPHA:438216 |
Mpdu1-Cdg |
|
Decreased response to growth hormone stimulation test, Elevated circulating creatine kinase conce... |
ORPHA:79323 |
Neuroendocrine Neoplasm Of Appendix |
|
Hepatomegaly, Functional intestinal obstruction, Tricuspid stenosis, Chronic noninfectious lympha... |
ORPHA:100079 |
Congenital Disorder Of Deglycosylation 1 |
|
Elevated circulating alpha-fetoprotein concentration, Osteoporosis, Small hand, Short foot, Scoli... |
OMIM:615273 |
Periventricular Nodular Heterotopia |
|
Pyloric stenosis, Abnormal heart valve morphology, Gastroesophageal reflux |
ORPHA:98892 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Anal atresia, Short stature, Intestinal malrotation, Hypospadias, ... |
OMIM:617602 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6 |
|
Herpes simplex encephalitis, Recurrent aphthous stomatitis |
OMIM:614850 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Osteoporosis, Reduced bone mineral density, Abnormal circulating chol... |
ORPHA:168558 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Opacification of the corneal str... |
OMIM:252500 |
Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Short neck, Renal cyst, Agenesis ... |
OMIM:229850 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Cerebrofacioarticular Syndrome |
|
Epicanthus, Cerebellar vermis hypoplasia, Ataxia, Short stature, Anal stenosis, Hypospadias, Bila... |
ORPHA:314679 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Ventricular septal defect, Urinary incontinence,... |
ORPHA:2729 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Villous atrophy, Decreased proportion of CD4+CD25+... |
OMIM:606367 |
Cowden Syndrome 6 |
|
Colonic diverticula, Furrowed tongue, Hydrocele testis, Ovarian cyst, Hamartomatous polyposis, Hi... |
OMIM:615109 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Splenomegaly, Labial hypertrophy, Nephrolithiasis, Polycystic o... |
OMIM:608594 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Lower limb spasticity, Poor head control, Ataxia, Eczema, Short stature, Inab... |
OMIM:617799 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Decreased response to growth hormone stimulation test, Pineal cyst, Chiari type I malformation, V... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Pineal cyst, Chiari type I malformation, V... |
ORPHA:363958 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Fetal ascites, Abnormal stomach morphology, Abnormality of the ureter,... |
ORPHA:141127 |
Proteus-Like Syndrome |
|
Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland |
ORPHA:2969 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Enlarged kidney, Cardiomegaly |
OMIM:261740 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Osteoporosis, Reduced bone mineral density, Abnormal circulating chol... |
ORPHA:289548 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade... |
ORPHA:169154 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Short neck, Synophrys, Hemivertebrae, High... |
OMIM:213980 |
Menkes Disease |
|
Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Osteoporosis, Jo... |
ORPHA:565 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finger, Short neck, Cryp... |
ORPHA:2311 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Retinal atrophy, Abnormal retinal morphology, Elevated circulating creatine kinase ... |
ORPHA:2785 |
Oeis Complex |
|
Hydroureter, Intestinal malrotation, Bifid uterus, Epispadias, Vesicovaginal fistula, Ambiguous g... |
OMIM:258040 |
Cowden Syndrome 5 |
|
Colonic diverticula, Furrowed tongue, Hydrocele testis, Ovarian cyst, Hamartomatous polyposis, Hi... |
OMIM:615108 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Short neck, Prominent nose, High, narrow palate, Thick nasal alae, Broad columella, Delayed CNS m... |
OMIM:619950 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fract... |
OMIM:166200 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... |
OMIM:314050 |
Hypermobile Ehlers-Danlos Syndrome |
|
Osteoarthritis, Limitation of joint mobility, Hip dislocation, Osteolysis, Joint hyperflexibility... |
ORPHA:285 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Polycystic ovaries |
ORPHA:79085 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pi... |
ORPHA:97289 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Anterior pituitary hypoplasia, Bilateral cryptorchidism, Hypertonia, High palate, Agenesis of cor... |
OMIM:613457 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... |
ORPHA:90793 |
Galloway-Mowat Syndrome 3 |
|
Cerebellar atrophy, Diffuse mesangial sclerosis, Epicanthus, Short stature, Proteinuria, Hiatus h... |
OMIM:617729 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent viral infections, Recurrent aspiration pneumonia, Intention tremor, Psoriasiform dermat... |
ORPHA:221139 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Reduced bone mineral density, Agammaglobulinemia, Long fibula, Abnormal metaphysis morphology, Ly... |
ORPHA:935 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Lymphadenopathy |
ORPHA:411703 |
Leukocyte Adhesion Deficiency Type Ii |
|
Severe periodontitis, Depressed nasal ridge, Hepatomegaly, Chronic lymphocytic meningitis, Ataxia... |
ORPHA:99843 |
Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Functional intestinal obstruction, Tricuspid stenosis, Gastrointestinal obstr... |
ORPHA:100078 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Short stature, Abnormal dental enamel morphology, Macrodontia, Kyphosis, Hemive... |
ORPHA:2916 |
Stickler Syndrome, Type I |
|
Joint stiffness, Kyphosis, Osteoarthritis, Submucous cleft hard palate, Pierre-Robin sequence, Cl... |
OMIM:108300 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
OMIM:615085 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Bilateral cryptorchidism, Synophrys, Anteriorly placed anus, Glossoptosis, Hy... |
OMIM:602535 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op... |
ORPHA:352731 |
Retinitis Pigmentosa 23 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... |
OMIM:300424 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis... |
ORPHA:251066 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Anteverted nares, Clonus, Supernumerary nipple, Narrow nasal tip, Sparse eyebrow, Bilateral ptosi... |
ORPHA:477993 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Epicanthus, Urinary incontinence, Tremor, Kyphosis, Synophrys, Congenital ptosis, Recurrent infec... |
ORPHA:476126 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... |
ORPHA:53035 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Intestinal malrotation, Kyphosis, Deep philtrum, Orofacial cleft, Incomplete cleft of the upper lip |
ORPHA:77300 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Small hand, Short foot, Spina bifida occulta, Thickened cortex of long bones, Broad f... |
ORPHA:488434 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... |
OMIM:605549 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr... |
ORPHA:158061 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Abnormality of the gastrointestinal tract, Renal insufficiency, Anal stenosis, Uri... |
ORPHA:322 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Polyc... |
ORPHA:171 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Acute hepatitis, Glomerulonephritis, Splenomegaly, ... |
ORPHA:2137 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Short stature, Camptodactyly of finger, Carious teeth, Kyphosis, Joint contracture of the 5th fin... |
ORPHA:1883 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectop... |
OMIM:617466 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal eyelid morphology, Uveitis, Subcortical cerebral atrophy, Conjunctivitis, Agenesis of co... |
ORPHA:2273 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries |
ORPHA:435651 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Abnormality of the lymphatic system, Ovarian serous cystadenoma, Enlarged kidney |
ORPHA:276280 |
Marden-Walker Syndrome |
|
Epispadias, Abnormal form of the vertebral bodies, Agenesis of corpus callosum, Bifid uvula, Abno... |
ORPHA:2461 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Short stature, Abnormal dental morphology, Hyperlordosis, Short neck, Kyphosis, Fused cervical ve... |
ORPHA:2522 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal... |
OMIM:158330 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection, Increased T cell count, Inflammation of t... |
ORPHA:98813 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Hypertriglyceridemia, Rocker bottom foot,... |
ORPHA:79474 |
15Q14 Microdeletion Syndrome |
|
Short stature, Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, Scoliosis, L... |
ORPHA:261190 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Arachnodactyly, Abnormality of neutrophils, Reduced bone mineral density, Abnormal hip bone morph... |
ORPHA:2720 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Mucolipidosis Iii Alpha/Beta |
|
Retinopathy, Increased serum beta-hexosaminidase, Retinal degeneration |
OMIM:252600 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Kyphosis, Abnormal mesentery morphology, Cryptorchidis... |
ORPHA:2075 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Pyloric stenosis, Renal hypoplasi... |
ORPHA:3138 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Proximal renal tubular a... |
OMIM:146255 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, High palate, Polycystic ovaries |
ORPHA:284180 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, High, narrow palate, Red-... |
ORPHA:228308 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal hypertrophy, Dy... |
OMIM:252930 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Narrow nasal bridge, Hypoplasia of penis, Short stature, Short neck, Kyphosis, Cryptorchidism, Up... |
ORPHA:3082 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Waddling gait, Hyperlordosis, Short neck, Kyp... |
ORPHA:98863 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Short stature, Kyphosis, Joint hyperflexibility, High palate, Short philtrum, Scolios... |
ORPHA:2479 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hy... |
ORPHA:2035 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Meckel Syndrome 12 |
|
Agenesis of cerebellar vermis, Anteverted nares, Ureteral hypoplasia, Antecubital pterygium, Wide... |
OMIM:616258 |
Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Facial palsy secondary to cranial hyperost... |
OMIM:269500 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Intrahepatic cholestasis, Dilated cardiomy... |
OMIM:614921 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Hypoplasminogenemia |
|
Cervicitis, Duodenal ulcer, Nephrolithiasis, Abnormal fallopian tube morphology, Abnormality of t... |
ORPHA:722 |
Marfan Syndrome |
|
Osteopenia, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Ky... |
ORPHA:558 |
Multiple Endocrine Neoplasia Type 1 |
|
Increased susceptibility to fractures, Hypercalcemia, Osteolysis, Reduced bone mineral density |
ORPHA:652 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Short neck, Abnormal form of the vertebral bodies, Hypertonia, Aplasia/Hypop... |
ORPHA:818 |
Melkersson-Rosenthal Syndrome |
|
Macroglossia, Furrowed tongue, Oligosacchariduria, Lymphadenopathy |
ORPHA:2483 |
Mucopolysaccharidosis, Type Iiia |
|
Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal hypertrophy, Hepatomegaly |
OMIM:252900 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Short neck, Anteriorly placed anus, Clitoral hypoplasia, Vesicoureteral reflux, Micropenis, Short... |
OMIM:616894 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Epicanthus, Depressed nasal bridge, Short neck, Cleft palate, Upslanted palpebral fissure, High p... |
OMIM:156610 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, High, narrow palate, Scoliosis, Joint hyperflexibility |
ORPHA:2181 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Dysphagia, Ascite... |
OMIM:608013 |
Boutonneuse Fever |
|
Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thrombocytopenia |
ORPHA:83313 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Telecanthus, Neurogenic bladder, Short stature, Short neck, Kyphosis, Cryptorch... |
OMIM:130720 |
Thanatophoric Dysplasia Type 2 |
|
Short stature, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspondyly, Fla... |
ORPHA:93274 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplastic distal radial epiphyses, Coxa valga, Osteoporosis, Hip dislocation, Osteo... |
OMIM:182250 |
Trisomy 8P |
|
Sacral dimple, Anteverted nares, Depressed nasal bridge, Short neck, Cryptorchidism, Recurrent up... |
ORPHA:264450 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, High palate, Lymphopenia |
OMIM:605309 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Renal insufficiency, Gastrointestinal hemorrhage, Abnormality of... |
ORPHA:33226 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... |
ORPHA:263665 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Sple... |
OMIM:612541 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Premature Ovarian Failure 7 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... |
OMIM:612964 |
Mgat2-Cdg |
|
Reduced level of N-acetylglucosaminyltransferase II, Kyphosis, Long eyelashes, Cerebellar hypopla... |
ORPHA:79329 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Proteinuria, Polycystic ovaries, Cardiomyopathy, Cirrhosis, Hep... |
ORPHA:79086 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Dental crowding, Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, ... |
ORPHA:2789 |
Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Macular degeneration, Abnormality of macular pigmentation |
ORPHA:1573 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Prominent nasal bridge, Cryptorchidism, Short nose, Optic atrophy, Undetectable vi... |
OMIM:614225 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Bulbar palsy, Facial palsy, Proximal muscle weakness, Kyphosis, Ophthalmoparesis, Fatigable weakn... |
OMIM:617143 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Intestinal obstruction, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Lymphade... |
ORPHA:32960 |
Distal Deletion 12Q |
|
Short neck, Ectopic kidney, High, narrow palate, Biliary atresia, Vesicoureteral reflux, Micropen... |
ORPHA:96149 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Cryptorchidism, Splenomegaly, Hypercalciuria, Macroglossia, Mucopolysacchariduria, ... |
OMIM:618440 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... |
OMIM:614129 |
Hennekam Syndrome |
|
Lymphopenia, Ectopic kidney, Pericardial effusion, Splenomegaly, Malabsorption, Pyloric stenosis,... |
ORPHA:2136 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Epi... |
OMIM:616959 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Waddling gait, Hyperlordosis, Spinal rigidity... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Waddling gait, Hyperlordosis, Spinal rigidity... |
ORPHA:98853 |
Orofaciodigital Syndrome Type 1 |
|
Tremor, Lobulated tongue, High palate, Chronic otitis media, Agenesis of corpus callosum, Dandy-W... |
ORPHA:2750 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Noonan Syndrome 14 |
|
Epicanthus, Lacrimal duct stenosis, Short stature, Prominent nasal bridge, Short neck, Sparse eye... |
OMIM:619745 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating cr... |
ORPHA:29073 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... |
OMIM:266200 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Abnormal labia majora morphology, Polycystic ovaries |
ORPHA:435660 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:617713 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Lumbar hyperlordosis, Prominent nasal bridge, Kyphoscoliosis, Sparse eyebrow, Kyphosis, Gait atax... |
ORPHA:457359 |
Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of fi... |
ORPHA:284984 |
Weaver Syndrome |
|
Epicanthus, Delayed CNS myelination, Depressed nasal bridge, Kyphosis, Cryptorchidism, Slurred sp... |
OMIM:277590 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Urinary incontinence, Cardiomegaly, Splenomegaly, Macroglossia |
OMIM:232300 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin... |
ORPHA:33110 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Optic nerve hypoplasia, Cerebellar hypoplasia, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Achondroplasia |
|
Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Kyphosis, Disproportionate short statu... |
ORPHA:15 |
Pagod Syndrome |
|
Multicystic kidney dysplasia, Situs inversus totalis, Abnormality of the spleen, Agonadism, Hypop... |
ORPHA:991 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Zttk Syndrome |
|
Hemivertebrae, High palate, Bifid uvula, Absent gallbladder, Short stature, Depressed nasal bridg... |
OMIM:617140 |
Primrose Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Joint hypermobility, Elevated circulat... |
OMIM:259050 |
Malakoplakia |
|
Proteinuria, Dysuria, Follicular hyperplasia, Orchitis, Urinary bladder inflammation, Urinary urg... |
ORPHA:556 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Short nasal bridge, Retinal atrophy, Elevated circulating creatine kinase concentration, Optic at... |
OMIM:253280 |
Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Cholangitis, Macular degeneration, Widely spaced teeth, High palate, Hepatic fibrosis, Microdonti... |
OMIM:266920 |
Osteootohepatoenteric Syndrome |
|
Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Reduced bone mineral de... |
OMIM:619377 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Elevated circulating luteinizing hormone level, Unilateral renal agenesis, Pylo... |
OMIM:618419 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Ventricular septal defect, Splenomegaly, Microvesicular hepatic s... |
OMIM:619418 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
Axial Spondylometaphyseal Dysplasia |
|
Optic atrophy, Rod-cone dystrophy, Retinal dystrophy, Peripheral retinal degeneration |
ORPHA:168549 |
Cohen Syndrome |
|
Short stature, Aplasia/Hypoplasia of the tongue, Macrodontia, Abnormality of the dentition, Failu... |
ORPHA:193 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Hypospadias, Prominent nasal bridge, Unilateral renal agenesis, Kyphosis, Cryp... |
ORPHA:464311 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Short stature, Ataxia, Kyphoscoliosis, Inability to walk, Spasticity, Cleft palate, Upslanted pal... |
ORPHA:488642 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Increased intervertebral space, Long nose, Opisthotonus, Hypertonia, Abnormality of the cervical ... |
ORPHA:508533 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Calcinosis, Aplastic anemia, A... |
ORPHA:221016 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Smooth philtrum, Anteverted nares, Tented philtrum, Absent scrotum, Long philtrum, Retinal degene... |
OMIM:618479 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Broad ulna, Aplastic ane... |
ORPHA:2909 |
Dpagt1-Cdg |
|
Arachnodactyly, Flexion contracture, Osteoporosis, Scoliosis, Camptodactyly, Clinodactyly, Anemia |
ORPHA:86309 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Gastritis, Autoimmune thrombocytopenia, Malabsorption, Splenomegaly,... |
ORPHA:37042 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia |
ORPHA:169090 |
Giant Cell Arteritis |
|
Glossitis, Pericarditis, Renal insufficiency, Ataxia, Epistaxis, Recurrent pharyngitis, Optic atr... |
ORPHA:397 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Hypospadias, Ventricular septal defect, Ovotestis, Cleft palate, Hypoplasia of ... |
OMIM:309801 |
Neuroendocrine Tumor Of The Colon |
|
Melena, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morpho... |
ORPHA:100080 |
Autosomal Recessive Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Oliguria, Stage 5 chronic ... |
ORPHA:731 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Menin... |
OMIM:614379 |
Pelger-Huet Anomaly |
|
Abnormality of the dentition, Kyphosis, Gingival overgrowth, Mild short stature, Failure to thriv... |
OMIM:169400 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Bowing of the legs, Knee flexion contracture, Abnormal calcification of the carpal bones, Triangu... |
OMIM:271665 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Pyloric stenosis, Hydroureter, Nephrolithiasis |
OMIM:617219 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Anterior pituitary hypoplasia, Renal cyst, Micropenis, Pelvic kidney, Abnormality of the cervical... |
ORPHA:464306 |
Knobloch Syndrome 1 |
|
Cerebellar atrophy, Optic disc pallor, Epicanthus, Telecanthus, Ataxia, Depressed nasal bridge, P... |
OMIM:267750 |
Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Thick lower lip vermilion, Disprop... |
ORPHA:583 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Severe short stature, Small scrotum, Prominent nasal bridge, Kyphosis, Cryptorchidism, Abnormal l... |
ORPHA:2215 |
Atelosteogenesis Type I |
|
Telecanthus, Rhizomelia, Malrotation of colon, Cleft palate, Coronal cleft vertebrae, Platyspondy... |
ORPHA:1190 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal stroma tumor, Splenomegaly, Lymph... |
ORPHA:1572 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Calcinosis, Aplastic anemia, M... |
ORPHA:221008 |
3Mc Syndrome 2 |
|
Torticollis, Hypospadias, Prominent nasal bridge, Highly arched eyebrow, Postnatal growth retarda... |
OMIM:265050 |
Beck-Fahrner Syndrome |
|
High palate, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Flexion... |
OMIM:619040 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Autoimmune Lymphoproliferative Syndrome |
|
Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative... |
ORPHA:3261 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Bilateral cryptorchidism, Pyloric stenosis, High palate |
ORPHA:314575 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Speech apraxia, Narrow nasal bridge, Ataxia, Kyphoscoliosis, Prominent nose, Tremor, Dysplastic c... |
OMIM:300967 |
Majeed Syndrome |
|
Hepatomegaly, Proteinuria, Congenital hypoplastic anemia, Malabsorption, Splenomegaly, Leukocytos... |
ORPHA:77297 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Short stature, Small for gestational age, Cleft upper lip, Crypt... |
OMIM:610443 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Anosmia, Optic atrophy, Abnormality... |
OMIM:601152 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
High, narrow palate, Retinal hemorrhage, Angioid streaks of the fundus, Macular degeneration, Hig... |
OMIM:177850 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Cerebellar atrophy, Esophageal stricture, Pancolitis, Inflammation of the large intestine, Intrau... |
OMIM:620133 |
Opitz Gbbb Syndrome |
|
Telecanthus, Cerebellar vermis hypoplasia, Abnormal nasopharynx morphology, Anteverted nares, Hyp... |
OMIM:300000 |
Monosomy 22Q13.3 |
|
Ptosis, Epicanthus, Sacral dimple, Recurrent skin infections, Palpebral edema, Impaired pain sens... |
ORPHA:48652 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Ectropion of lower ey... |
OMIM:615873 |
Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Limited elbow movement, Sagittal craniosynostosis, Asplenia, Shor... |
ORPHA:221120 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Ovarian cyst |
ORPHA:327 |
Alkaptonuria |
|
Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral density, Arthritis, ... |
ORPHA:56 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hepatic steatosis, Cirrhosis, Polycystic ovaries |
OMIM:604367 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Osteoporosis, Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Downturne... |
OMIM:265000 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Pallidal degeneration, Abetalipoproteinemia, Bull's eye maculopathy, Optic atrophy, Pigmentary re... |
ORPHA:157850 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Absent vas deferens, Pyloric sten... |
ORPHA:93111 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Splenomegaly, Polycystic ovaries, Hypertrophic cardiomyopathy, Hepatic steatosis, P... |
ORPHA:280365 |
Ring Chromosome 7 Syndrome |
|
Unilateral ptosis, Bifid uvula, Median cleft palate, Short stature, Anteverted nares, Highly arch... |
ORPHA:1449 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Telecanthus, Epicanthus, Short stature, Prominent nasal bridge, Broad nasal tip, Kyphosis, Upslan... |
OMIM:618050 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectu... |
ORPHA:424016 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Feingold Syndrome |
|
Short stature, Anteverted nares, Depressed nasal bridge, Abnormality of the spleen, Esophageal at... |
ORPHA:1305 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Premature thelarche, Renal salt wasting, Isosexual precocious puberty, Prec... |
ORPHA:90795 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Rena... |
OMIM:610199 |
Craniofrontonasal Syndrome |
|
Telecanthus, Unilateral breast hypoplasia, Short stature, Hypospadias, Short neck, Bifid nasal ti... |
OMIM:304110 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Dilated cardiomyopat... |
OMIM:615688 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Bone Marrow Failure Syndrome 3 |
|
Chromosome breakage, Epicanthus, Short stature, Eczema, Pancreatic steatosis, Cryptorchidism, Rec... |
OMIM:617052 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Abnormal urinary color, Autoimmune hemolytic anemia |
ORPHA:90037 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Short stature, Recurrent fractures, Short neck, Kyphosis, Cle... |
ORPHA:140 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Thrombocy... |
OMIM:230800 |
Parathyroid Carcinoma |
|
Osteoporosis, Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Toe syndactyly, Tapered finger, Osteoporosis, Lower-limb joint contracture, Scoliosis, Short fing... |
ORPHA:459070 |
Selective Igm Deficiency |
|
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
Chromosome 17Q12 Deletion Syndrome |
|
Multicystic kidney dysplasia, Unilateral renal agenesis, Cryptorchidism, Urethral stenosis, Urete... |
OMIM:614527 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Severe short stature, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Moderate post... |
ORPHA:1005 |
Carney Complex |
|
Pituitary growth hormone cell adenoma, Neoplasm of the stomach, Leydig cell neoplasia, Ovarian se... |
ORPHA:1359 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Malabsorption |
OMIM:600705 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation |
ORPHA:96 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Bicoronal synostosis, Everted upper lip vermilion, Camptodactyly of finger, Supernumerary nipple,... |
OMIM:619951 |
Fanconi Anemia, Complementation Group D2 |
|
Short stature, Hypergonadotropic hypogonadism, Blepharophimosis, Ectopic kidney, Cryptorchidism, ... |
OMIM:227646 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... |
OMIM:619665 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel... |
OMIM:618048 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Epicanthus, Delayed CNS myelination, Hydroureter, Supernumerary nipple, Short neck, Prominent cru... |
OMIM:619194 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Thick nasal alae, Malabsorption, Abnormality of the dentition, Splenomegaly, Adenoi... |
ORPHA:581 |
Tarp Syndrome |
|
Broad-based gait, Anteverted nares, Cryptorchidism, Optic atrophy, Wide nasal bridge, Cleft palat... |
ORPHA:2886 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ... |
ORPHA:116 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hypoplasia of eyelid, Optic nerve hypoplasia, Short stature, Convex nasal ridge, Cleft soft palat... |
OMIM:619321 |
Say-Barber-Miller Syndrome |
|
Prominent nasal bridge, Broad nasal tip, Carious teeth, Cryptorchidism, Optic atrophy, Macular de... |
ORPHA:3132 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Oligosaccharid... |
OMIM:230000 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Achilles tendon contracture... |
ORPHA:98855 |
Pseudoxanthoma Elasticum |
|
Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse... |
OMIM:264800 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormality of retinal pigmentation, Hepatomegaly, Wide nose, Abnormal foveal morpho... |
ORPHA:580 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... |
OMIM:612310 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content |
OMIM:613027 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, He... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, He... |
ORPHA:100082 |
Orofaciodigital Syndrome I |
|
Proteinuria, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Abnormal heart morphology, Tong... |
OMIM:311200 |
Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri... |
ORPHA:822 |
Vici Syndrome |
|
Everted upper lip vermilion, Median cleft lip, Depressed nasal bridge, Macular atrophy, Elevated ... |
OMIM:242840 |
Microphthalmia, Lenz Type |
|
Hydroureter, Short stature, Hypospadias, Hyperlordosis, Kyphosis, Cryptorchidism, Optic disc colo... |
ORPHA:568 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Recurrent fractures,... |
ORPHA:2050 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Atrial septal defect, Meckel diverticulum, Ventricular septal defect, Eosin... |
OMIM:274000 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Dyggve-Melchior-Clausen Disease |
|
Lumbar hyperlordosis, Multicentric ossification of proximal femoral epiphyses, Short neck, Postna... |
OMIM:223800 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis... |
ORPHA:263479 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis |
OMIM:142680 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert... |
ORPHA:57777 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Isolated Biliary Atresia |
|
Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholi... |
ORPHA:30391 |
Metachromatic Leukodystrophy |
|
Urinary incontinence, Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Ne... |
ORPHA:512 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Telecanthus, Prominent nasal bridge, Delayed peripheral myelination, Underdeveloped nasal alae, S... |
ORPHA:364577 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Atrial septal defect, Atrioventricular canal defect, Hepatic... |
OMIM:619573 |
Saccharopinuria |
|
Hypercystinemia, Hyperammonemia, Abnormality of circulating enzyme level, Elevated plasma citrull... |
ORPHA:3124 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Abnormality of t... |
ORPHA:2911 |
Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal heart morpho... |
ORPHA:261197 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Epicanthus, Telecanthus, Anteverted nares, Aganglionic megacolon, Hypo... |
ORPHA:3339 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hepa... |
ORPHA:699 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... |
OMIM:613843 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Allergic rhinitis, Eczema, Elevated circulating alkaline phosphatase concentration, C... |
OMIM:618162 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Crumpled long bones, Recurrent fractures, Femoral retroversion, Bowing of the legs, M... |
OMIM:610682 |
Fucosidosis |
|
Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly |
ORPHA:349 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... |
OMIM:619203 |
2Q31.1 Microdeletion Syndrome |
|
Epicanthus, Short stature, Short neck, Kyphosis, Synophrys, Optic disc coloboma, Cryptorchidism, ... |
ORPHA:251014 |
Digeorge Syndrome |
|
High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus... |
OMIM:188400 |
Pontocerebellar Hypoplasia Type 7 |
|
Hypertonia, High palate, Microphallus, Absent penis, Micropenis, Depressed nasal bridge, Fatigabl... |
ORPHA:284339 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:618117 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Short stature, Kyphosis, Orofacial cleft, Macroglossia, Scoliosis |
ORPHA:79107 |
Meckel Syndrome 14 |
|
Hepatic fibrosis, Aplasia of the uterus, Polycystic kidney dysplasia, Ambiguous genitalia, Single... |
OMIM:619879 |
Chops Syndrome |
|
Ventricular septal defect, Splenomegaly, Cryptorchidism, High, narrow palate, Anomalous pulmonary... |
OMIM:616368 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... |
OMIM:300908 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism |
OMIM:613546 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Foot joint contracture, Abnormal circulating selenium concentration, Flexion contract... |
ORPHA:79408 |
Hyper-Igd Syndrome |
|
Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Ren... |
OMIM:260920 |
Meacham Syndrome |
|
Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of... |
ORPHA:3109 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, C... |
OMIM:263520 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Splenomegaly, Intestinal malrotation |
ORPHA:3035 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Trisomy 9P |
|
Sacral dimple, Dental crowding, Short neck, Kyphosis, Non-midline cleft lip, Impacted tooth, Down... |
ORPHA:236 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Distal Triplication 15Q |
|
Craniosynostosis, Large for gestational age, Kyphosis, Flexion contracture, Hydrocele testis, Hig... |
ORPHA:314588 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Hypermobility of toe joints, Kyphosis, Short toe, Enlargement of the distal femoral e... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Hypermobility of toe joints, Kyphosis, Short toe, Enlargement of the distal femoral e... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Hypermobility of toe joints, Kyphosis, Short toe, Enlargement of the distal femoral e... |
ORPHA:99226 |
3-Methylglutaconic Aciduria, Type Viia |
|
Cerebellar atrophy, Delayed CNS myelination, 3-Methylglutaconic aciduria |
OMIM:619835 |
Turner Syndrome |
|
Osteopenia, Hypermobility of toe joints, Kyphosis, Short toe, Enlargement of the distal femoral e... |
ORPHA:881 |
Loeys-Dietz Syndrome 2 |
|
Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Postaxial polyda... |
OMIM:610168 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos... |
OMIM:616084 |
Scedosporiosis |
|
Unusual skin infection, Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Osteomyelitis, ... |
ORPHA:449280 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Short stature, Malabs... |
ORPHA:47 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Poems Syndrome |
|
Pericardial effusion, Lymphadenopathy, Hypogonadism, Thrombocytosis, Ascites, Polycythemia, Visce... |
ORPHA:2905 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, Conjunctivitis, Otit... |
OMIM:601457 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Cerebellar atrophy, Delayed CNS myelination, Inability to walk, Recurrent infections, Truncal ata... |
OMIM:620066 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:620296 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Short neck, Vertebral segmentation defect, Chronic otitis media, Hypoplastic... |
ORPHA:1507 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... |
ORPHA:96191 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Broad 1st m... |
ORPHA:79443 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Splenomegal... |
OMIM:269860 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Diffuse cerebral atrophy, Biliary hyperplasia, Choanal stenosis, Micropenis, Pancreatic hypoplasi... |
ORPHA:83617 |
Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Cushing Disease |
|
Leukocytosis, Osteoporosis, Decreased eosinophil count, Vertebral compression fracture, Lymphopenia |
ORPHA:96253 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Neurodegeneration, Retinal degeneration |
ORPHA:79244 |
Hydatidiform Mole |
|
Enlarged uterus, Anemia |
ORPHA:99927 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T... |
OMIM:214500 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Stag... |
OMIM:249100 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
16Q24.3 Microdeletion Syndrome |
|
Anteverted nares, Optic nerve hypoplasia, Highly arched eyebrow, Kyphosis, Cryptorchidism, Upslan... |
ORPHA:261250 |
Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials, Brain atrophy, Cerebral atrophy |
OMIM:609304 |
Graft Versus Host Disease |
|
Jaundice, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, Gastrointestinal inflammation, ... |
ORPHA:39812 |
Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Short neck, High, narrow palate, Epispadias, Hemivertebrae, Abnormal form of... |
ORPHA:3107 |
Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Skin rash, Pneumonia, Decreased response to growth hormone... |
ORPHA:1855 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Abnormal thymus morphology, High palate, Cardiomegaly |
ORPHA:2463 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Mitral valve prolapse, Gast... |
OMIM:620233 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Cerebellar vermis hypoplasia, Prominent nose, High palate, Aplasia/Hypoplasia of the cerebellum, ... |
ORPHA:480880 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Caudate atrophy, Optic atrophy, Abnormality of visual evoked... |
ORPHA:52368 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:617690 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Epicanthus, Aplasia of the thymus, Decreased response to growth hormone stimu... |
OMIM:618223 |
Coffin-Siris Syndrome 1 |
|
Ectopic kidney, Partial agenesis of the corpus callosum, Gait ataxia, High palate, Spina bifida o... |
OMIM:135900 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Oligosacchariduria, Macroglossia, Left ventricular hypertrophy, Hyper... |
ORPHA:308552 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Nasal congestion, Optic disc pallor, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries, Cleft palate |
ORPHA:137675 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Retinal degeneration |
ORPHA:542306 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Villous atrophy, Hypospadias, Ventricular septal defect, Increased mean platelet vo... |
OMIM:222470 |
Nephronophthisis 11 |
|
Hepatic fibrosis, Retinal degeneration |
OMIM:613550 |
Ogden Syndrome |
|
Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarged kidney, Cardiomegaly |
OMIM:300855 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Osteoporosis, Leukopenia, Bone marrow hyp... |
OMIM:305000 |
Stromme Syndrome |
|
Accessory spleen, Cerebellar vermis hypoplasia, Jejunal atresia, Optic nerve hypoplasia, Prominen... |
OMIM:243605 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Lymphocytosis, Hypoch... |
ORPHA:514 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Estrogen Resistance |
|
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries |
OMIM:615363 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria |
ORPHA:2714 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Hurler-Scheie Syndrome |
|
Short stature, Camptodactyly of finger, Joint stiffness, Kyphosis, Contracture of the distal inte... |
OMIM:607015 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lymphopenia, Anemia |
OMIM:617591 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Short s... |
OMIM:203800 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Malabsorption, Atypical or prolonge... |
ORPHA:83471 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Abnormal testis morphology, Polycystic ovaries |
ORPHA:1227 |
Neonatal Alloimmune Neutropenia |
|
Severe infection, Meningitis, Pneumonia, Jaundice |
ORPHA:464370 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... |
OMIM:106210 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Pyloric stenosis, Rectal prolapse, Hypoplasia of the thymus, Gastroesophageal r... |
OMIM:613177 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Short neck, High, narrow palate, Vertebral segmentatio... |
ORPHA:373 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le... |
ORPHA:90033 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Bicuspid aortic valve, Ventricular septal ... |
ORPHA:261494 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Vaginal atresia, Renal hypoplasia, Hypoplasia of the uterus |
OMIM:617914 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cerebellar atrophy, Glandular hypospadias, Cerebral atrophy, Limb hypertonia |
OMIM:620306 |
Coffin-Siris Syndrome 4 |
|
Narrow nasal bridge, Thick eyebrow, Wide nose, Short stature, Anteverted nares, Depressed nasal b... |
OMIM:614609 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Hypospadias, Bifid uterus, Complete atrioventricular... |
OMIM:236680 |
Carney Triad |
|
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Lymphade... |
ORPHA:139411 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing e... |
OMIM:619991 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Hypokalemia, Osteoporosis |
ORPHA:91347 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Pollakisuria, Dysphagia, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Knobloch Syndrome |
|
Dextrocardia, Pyloric stenosis, Vesicoureteral reflux, Lymphangioma, Bifid ureter |
ORPHA:1571 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Cachexia, Decreased ner... |
ORPHA:206436 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Abnormality of visual evoked potentials, Brain atrophy, Gingivitis |
OMIM:614457 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Brain abscess, Lumbar hyperlordosis, Rhizomelia, Severe short stature, Depressed nasal bridge, Ur... |
OMIM:616482 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... |
OMIM:614643 |
Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Joint laxity, Aganglionic megacolon, Failure to thrive in infancy, Hyperlord... |
OMIM:162300 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Thrombocytopenia, Splenomegaly, Osteoporosis, Scoliosis, Anemia |
OMIM:619525 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,... |
ORPHA:30 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Cerebellar vermis hypoplasia, Small scrotum, Short neck, High palate, Bifid uvula, Pain insensiti... |
OMIM:620330 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Chorioretinal atrophy, Retinal degeneration |
OMIM:210370 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, ... |
ORPHA:567983 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Chorea, Xerostomia, Tubulointerstitial nephritis, Meningitis,... |
ORPHA:289390 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Spasticity, Hypertonia, Myoclonus, Recurrent lower ... |
OMIM:618426 |
Cone-Rod Dystrophy And Hearing Loss 1 |
|
Macular degeneration, Retinal atrophy |
OMIM:617236 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... |
OMIM:271520 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Tangier Disease |
|
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom... |
ORPHA:31150 |
Brachyolmia Type 3 |
|
Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondyly, Scoliosis |
OMIM:113500 |
Cornelia De Lange Syndrome 1 |
|
Ectopic kidney, High, narrow palate, Renal cyst, High palate, Gastroesophageal reflux, Vesicouret... |
OMIM:122470 |
Intermediate Uveitis |
|
Cataract, Macular scar, Band keratopathy, Tubulointerstitial nephritis, Posterior synechiae of th... |
ORPHA:279914 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal muscular rigidity... |
ORPHA:67036 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Reduced hematocrit, Lymphadenopathy |
ORPHA:79126 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Short stature, Depressed nasal bridge, Kyphosis, Inability to walk, Recurrent pneumonia, Optic at... |
OMIM:618493 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis |
OMIM:611804 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Abnormal fingertip morphology, Osteoporosis, Abnormal blood ion concentration, Anemia |
ORPHA:79404 |
Oculoauricular Syndrome |
|
Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Poste... |
OMIM:612109 |
Cog1-Cdg |
|
Irregularity of vertebral bodies, Cerebellar vermis hypoplasia, Rhizomelia, Kyphoscoliosis, Short... |
ORPHA:263508 |
Retinitis Pigmentosa 37 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration |
OMIM:611131 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin... |
OMIM:600802 |
Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Short neck, Kyphosis, Hemivertebrae, Tracheoesophageal fistula,... |
ORPHA:958 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Pyl... |
OMIM:256300 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hematuria, Leukopenia, Neutropenia... |
ORPHA:520 |
Williams Syndrome |
|
Hypoplasia of penis, Tremor, Rectal prolapse, Dysmetria, Abnormal form of the vertebral bodies, N... |
ORPHA:904 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level |
OMIM:617442 |
Mucolipidosis Type Ii |
|
Hip contracture, Short stature, Craniosynostosis, Limited wrist movement, Postnatal growth retard... |
ORPHA:576 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Joint laxity, Decreased serum iron, Osteoporosis, Hip dysplasia, Scoliosis, Anemia |
ORPHA:438213 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma... |
ORPHA:320401 |
Rett Syndrome, Congenital Variant |
|
Dystonia, Depressed nasal bridge, Kyphosis, Chorea, Delayed myelination, Bulbous nose, Athetosis,... |
OMIM:613454 |
Glutaric Acidemia Type 3 |
|
Elevated circulating glutaric acid concentration, Failure to thrive, Abnormality of circulating e... |
ORPHA:35706 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Short stature, Delayed eruption of primary teeth, Kyphosis, Moder... |
OMIM:119600 |
Feingold Syndrome 1 |
|
Accessory spleen, Epicanthus, Anteverted nares, Jejunal atresia, Asplenia, Esophageal atresia, Vo... |
OMIM:164280 |
Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancr... |
ORPHA:564 |
Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, He... |
ORPHA:100075 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Short neck, Flexion contracture, Irregular vertebral endplates, High palat... |
OMIM:143095 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Urinary incontinence, Cardiomegaly |
OMIM:105210 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Hematochezia, Inflamma... |
OMIM:617718 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Aganglionic megacolon, Obesity, Narrow mouth |
ORPHA:261222 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Proteinuria, Unilateral renal agenesis, Biliary tract abnormality, Renal hypoplasia,... |
OMIM:137920 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Thoracic scoliosis, Sacral dimple, Long uvula, Kyphoscoliosis, Cryptorchidism, Kyphos... |
ORPHA:536532 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
Thanatophoric Dysplasia Type 1 |
|
Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Lethal short-limb... |
ORPHA:1860 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone miner... |
ORPHA:667 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Neutrophilia, Cholangitis, Eosinophilia, Malabsorption, Splenomegaly... |
ORPHA:3260 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Carcinoid Syndrome |
|
Small intestine carcinoid, Intestinal carcinoid, Chronic noninfectious lymphadenopathy, Hepatic n... |
ORPHA:100093 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Craniosynostosis, Kyphosis, High, narrow palate, High pa... |
OMIM:616914 |
Microphthalmia, Syndromic 5 |
|
Microcornea, Micropenis, Cataract, Optic nerve hypoplasia |
OMIM:610125 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters |
OMIM:605808 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, External genital hypoplasia, Malformation of the hepatic ductal plate, Intestin... |
OMIM:249000 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Splenomegaly, Hydrometrocolpos, Horseshoe kidney, Aplasia of the epiglottis, Atriov... |
OMIM:617088 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Hy... |
OMIM:601346 |
Multiple Endocrine Neoplasia Type 2 |
|
Cervical neoplasm, Elevated urinary catecholamine level, Aganglionic megacolon, Thyroid C cell hy... |
ORPHA:653 |
Camurati-Engelmann Disease |
|
Waddling gait, Hepatomegaly, Ataxia, Facial palsy, Hyperlordosis, Kyphosis, Splenomegaly, Optic a... |
ORPHA:1328 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Esophageal Atresia |
|
Barrett esophagus, Abnormal external genitalia, Ventricular septal defect, Intestinal malrotation... |
ORPHA:1199 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Ureteropelvic junction obstruction, Epicanthus, Delayed CNS myelination, Poor head control, Wide ... |
OMIM:300896 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, El... |
ORPHA:97287 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... |
OMIM:607626 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Short stature, Kyphosis, Cryptorchidism, Gait disturbance, Hypogonadism, Attention deficit hypera... |
ORPHA:500055 |
Immunodeficiency 46 |
|
Meningitis, Recurrent sinopulmonary infections, Conjunctivitis, Chronic oral candidiasis |
OMIM:616740 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Becker Nevus Syndrome |
|
Supernumerary nipple, Kyphosis, Hypoplastic labia minora, Abnormality of the scrotum, Scoliosis, ... |
ORPHA:64755 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Follicular hyp... |
OMIM:619381 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Urethrovesical occlusion, Esophageal atresia, Congenital pyloric atresia |
OMIM:226730 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Epicanthus, Depressed nasal bridge, Exocrine pancreatic insufficiency, Elevat... |
OMIM:618500 |
Kabuki Syndrome 1 |
|
Premature thelarche, High palate, Micropenis, Recurrent aspiration pneumonia, Abnormal vertebral ... |
OMIM:147920 |
Stickler Syndrome |
|
Osteoarthritis, Abnormal form of the vertebral bodies, Reduced bone mineral density, Glossoptosis... |
ORPHA:828 |
Hermansky-Pudlak Syndrome |
|
Abnormal dental enamel morphology, Epistaxis, Malabsorption, Ocular albinism, Weight loss, Abnorm... |
ORPHA:79430 |
Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Abnormal cartilage matrix |
OMIM:245650 |
Lymphatic Malformation 6 |
|
Splenomegaly, Hydrocele testis, Gastroesophageal reflux, Atrial septal defect, Intestinal lymphan... |
OMIM:616843 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Atrial septal defect, Renal insufficiency, Multicystic kidney dysplasia, Hypospadi... |
OMIM:107480 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... |
OMIM:613500 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... |
OMIM:174900 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Partial anomalous pulmonary venous r... |
ORPHA:95430 |
Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Painless fractures due to injury, Decreased number of small peripheral myelinated nerve fibers, P... |
ORPHA:64752 |
Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Toe syndactyly, Reduced bone mineral density, Scoliosis, Short lower limbs |
ORPHA:1556 |
Von Hippel-Lindau Disease |
|
Back pain, Papilledema, Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreati... |
ORPHA:892 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Dental crowding, Deep philtrum, Gingivitis, Periodontitis, Short stature, Ab... |
ORPHA:534 |
17Q12 Microdeletion Syndrome |
|
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Short stature, ... |
ORPHA:261265 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Cardiofacioneurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Asplenia, Kyphosis, Cryptorchidism, Cleft palate, Upslanted palpebr... |
OMIM:619123 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cleft palate, Cardiomegaly |
ORPHA:158687 |
Orofaciodigital Syndrome Iii |
|
Kyphosis, Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Cleft soft palate, Cleft palate, Bifid uterus |
ORPHA:2736 |
Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu... |
OMIM:239200 |
Monosomy 9Q22.3 |
|
Epicanthus, Ovarian fibroma, Short neck, Kyphosis, Abnormality of the vertebral column, Chiari ma... |
ORPHA:77301 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, High palate, Renal artery stenos... |
OMIM:617913 |
Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Optic atrophy, Cholecystitis, Neoplasm of the gallbladder, A... |
ORPHA:309271 |
Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
Xq21 Microdeletion Syndrome |
|
Abnormal chorioretinal morphology, Decreased response to growth hormone stimulation test, Chorior... |
ORPHA:1435 |
Wolf-Hirschhorn Syndrome |
|
Abnormal form of the vertebral bodies, Agenesis of corpus callosum, Accessory spleen, Vertebral f... |
OMIM:194190 |
Pulmonary Capillary Hemangiomatosis |
|
Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
Immunodeficiency 66 |
|
Pustule, Meningitis, Recurrent skin infections |
OMIM:618847 |
Short Syndrome |
|
Ovarian cyst |
OMIM:269880 |
Atelis Syndrome 2 |
|
Epicanthus, Sacral dimple, Prominent nose, Kyphosis, Bulbous nose, Dysmetria, High palate, Attent... |
OMIM:620185 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Incoordination, Decreased number of large peripheral myelinated nerve fibers, Recurrent infection... |
OMIM:223900 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Cryptorchidism, High, narrow palate, Tracheoesophageal fistula, Cleft palate... |
ORPHA:2879 |
46,Xy Partial Gonadal Dysgenesis |
|
Osteoporosis |
ORPHA:251510 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Thin upper lip vermilion, Short stature, Kyphosis, Bilateral camptodactyly, Growth delay, Downtur... |
OMIM:619557 |
Alveolar Echinococcosis |
|
Low back pain, Liver abscess, Ataxia, Cholangitis, Portal hypertension, Pancreatic cysts, Abnorma... |
ORPHA:284 |
Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neut... |
ORPHA:293173 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... |
OMIM:149730 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Hemoglobinuria, Normochromic anemia, Cho... |
OMIM:611881 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly |
OMIM:208000 |
Kawasaki Disease |
|
Glossitis, Pericarditis, Proteinuria, Abnormal heart valve morphology, Myocarditis, Leukocytosis,... |
ORPHA:2331 |
Luscan-Lumish Syndrome |
|
Polycystic ovaries |
OMIM:616831 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... |
ORPHA:100085 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Urinary incontinence, Long nose, High palate, Pelvic kidney, Short stature, A... |
OMIM:619522 |
Hutchinson-Gilford Progeria Syndrome |
|
Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Coxa valga, Osteoarthr... |
ORPHA:740 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Recurrent respiratory infections, Short stature, Anteverted nares, Highly arched eyebrow, Short n... |
ORPHA:2282 |
Cdags Syndrome |
|
Sagittal craniosynostosis, Rectourethral fistula, Kyphosis, Cleft palate, Rectovaginal fistula, L... |
OMIM:603116 |
Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, High p... |
OMIM:619488 |
Vascular Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Osteoarthritis, Osteolysis, Joint hyperflexibility, Hypokalemia |
ORPHA:286 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Crimean-Congo Hemorrhagic Fever |
|
Leukopenia, Cholecystitis, Hepatomegaly, Neutrophilia, Pericardial effusion, Leukocytosis, Epidid... |
ORPHA:99827 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Ileus, Hypogonadism, Microcolon |
ORPHA:163746 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased number of peripheral myelinated nerve fibers, Painless fractures due to injury |
OMIM:201300 |
Angiostrongyliasis |
|
Distal muscle weakness, Unusual CNS infection, Paresthesia, Hyperesthesia, Meningitis, Muscle wea... |
ORPHA:74 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ... |
OMIM:615710 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Meningitis, Recurrent sinusitis |
OMIM:619707 |
Abetalipoproteinemia |
|
Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Hepatic fibrosis, Cirrhosis, Steator... |
ORPHA:14 |
Mend Syndrome |
|
Telecanthus, Sacral dimple, Short stature, Prominent nasal bridge, Kyphosis, Cryptorchidism, Clef... |
ORPHA:401973 |
Trichinellosis |
|
Skin rash, Facial palsy, Confusion, Ophthalmoplegia, Babinski sign, Hemiparesis, Conjunctivitis, ... |
ORPHA:863 |
Mend Syndrome |
|
Sacral dimple, Short stature, Prominent nasal bridge, Kyphosis, Cryptorchidism, Bulbous nose, Ups... |
OMIM:300960 |
Williams-Beuren Syndrome |
|
Osteopenia, Joint laxity, Hallux valgus, Down-sloping shoulders, Kyphoscoliosis, Hypercalcemia, F... |
OMIM:194050 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla... |
OMIM:269150 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Cryptorchidism, Kyphosis, Cleft lip, Spinal canal stenosis, Cleft palate, Fused... |
ORPHA:1724 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Tarsal synostosis, Kyphosis, Cleft... |
ORPHA:85199 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Short stature, Osteomalacia, Camptodactyly of finger, Postnatal growth retarda... |
OMIM:309000 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Intestinal malrotation, Asplenia, Esophageal atresia, Tracheoesophageal... |
OMIM:265380 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Rhizomelia, Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyl... |
OMIM:618019 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ... |
ORPHA:79431 |
Ramon Syndrome |
|
Delayed eruption of teeth, Short stature, Kyphosis, Gingival fibromatosis, Narrow palate, Scolios... |
OMIM:266270 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
Familial Tumoral Calcinosis |
|
Nephrocalcinosis, Splenomegaly, Hepatomegaly |
ORPHA:53715 |
Holoprosencephaly 14 |
|
Cerebellar atrophy, Anteverted nares, Proboscis, Partial agenesis of the corpus callosum, Partial... |
OMIM:619895 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Duplicated lacrimal punctum, Highly arched eyebrow... |
ORPHA:572333 |
Neurofibromatosis Type 1 |
|
Astrocytoma, Ataxia, Short stature, Abnormal eyelid morphology, Precocious puberty, Kyphosis, Cry... |
ORPHA:636 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Nephroblastoma,... |
OMIM:312870 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Cerebellar vermis hypoplasia, Urinary incontinence, Asplenia, Cleft hard palate, C... |
ORPHA:261537 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Abnormal central motor function, Neoplasm of the anterior pituitary, Ge... |
ORPHA:91351 |
Alkaptonuria |
|
Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Limited hip move... |
OMIM:203500 |
Spondyloperipheral Dysplasia |
|
Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Kyphosis, Irregular... |
OMIM:271700 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Mitral valve calcification, Splenomegaly, Abnormality of the spleen, Thrombocytopen... |
ORPHA:2072 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Cerebellar vermis hypoplasia, Urinary incontinence, Asplenia, Cleft hard palate, C... |
ORPHA:261552 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Cholecystitis, Abnormality of visual evoked p... |
ORPHA:309256 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Renal hypoplasia |
OMIM:612918 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Labial pseudohypertrophy, Polycystic ovaries, Hepatic steatosis |
OMIM:151660 |
Shprintzen Omphalocele Syndrome |
|
Epicanthus, Lumbar hyperlordosis, Short stature, Kyphosis, Flared nostrils, Wide nasal bridge, Sh... |
OMIM:182210 |
Pancreatic And Cerebellar Agenesis |
|
Agenesis of cerebellar vermis, Optic nerve hypoplasia, Cerebellar hypoplasia, Severe intrauterine... |
OMIM:609069 |
Fusariosis |
|
Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis,... |
ORPHA:228119 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Cholecystitis, Abnormality of visual evoked p... |
ORPHA:309263 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy |
OMIM:617099 |
Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... |
OMIM:601777 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso... |
ORPHA:210122 |
Friedreich Ataxia |
|
Abnormality of visual evoked potentials, Decreased sensory nerve conduction velocity, Optic atrop... |
OMIM:229300 |
Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Hepatic fibrosis, Atrial septal defect, Micropenis, Hepatomegaly, Hypospa... |
OMIM:243800 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy |
OMIM:125310 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Malabsorption,... |
OMIM:557000 |
Yunis-Varon Syndrome |
|
Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, High, narrow palate, Pylori... |
ORPHA:3472 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Loss of eyelashes, Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neur... |
ORPHA:2821 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Cerebellar vermis hypoplasia, Urinary incontinence, Asplenia, Cleft hard palate, V... |
ORPHA:2152 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Parotitis, Microcytic anemia, Cardiomegaly, Splenomegaly, Epididymitis, Lymphadenop... |
OMIM:256040 |
Gaisböck Syndrome |
|
Peptic ulcer, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Nephrocalcinosis... |
ORPHA:90041 |
Aspartylglucosaminuria |
|
Recurrent respiratory infections, Hepatomegaly, Aspartylglucosaminuria, Acne, Short stature, Ante... |
OMIM:208400 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ... |
ORPHA:47159 |
Arachnoiditis |
|
Meningitis, Urinary bladder sphincter dysfunction, Paresthesia, Muscle weakness |
ORPHA:137817 |
Aicardi-Goutières Syndrome |
|
Cardiomegaly, Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatosplenomegal... |
ORPHA:51 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Entropion, Hypospadias, Prominent nasal bridge, Trichiasis, Sparse eyebrow, Kyphosis, High palate... |
OMIM:609944 |
Acromegaly |
|
Wide nose, Cerebral palsy, Palpebral edema, Acne, Elevated circulating growth hormone concentrati... |
ORPHA:963 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Abnormal cardiomyocyte morphology, Cardiomyop... |
ORPHA:565612 |
Branchiooculofacial Syndrome |
|
Short neck, Renal cyst, Agenesis of cerebellar vermis, Depressed nasal bridge, Facial palsy, Hypo... |
OMIM:113620 |
Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Hyperextensibility of the finger joints, Scoliosis |
OMIM:609008 |
Heterotaxy, Visceral, 5, Autosomal |
|
Cerebellar atrophy, Absence of the sacrum, Ureteral duplication, Ureteral stenosis, Intestinal ma... |
OMIM:270100 |
Postaxial Acrofacial Dysostosis |
|
Supernumerary nipple, Cryptorchidism, Pyloric stenosis, Midgut malrotation, Cleft palate, Micropenis |
OMIM:263750 |
Moderate Hemophilia A |
|
Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Gingival bleedin... |
ORPHA:169805 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Pancreatitis, Hepatomegaly |
OMIM:207750 |
Limb-Mammary Syndrome |
|
Absent nipple, Cleft hard palate, Cleft palate, Bilateral breast hypoplasia, Breast aplasia, Hypo... |
ORPHA:69085 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Scoliosis, Joint hypermobility |
OMIM:617821 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Congenital pyloric atresia, Hematuria, Ureteroc... |
ORPHA:79403 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnormality ... |
ORPHA:206443 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Osteopenia, Short stature, Joint hypermobility, Carious teeth, Cryptor... |
OMIM:278250 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Short stature, Cachexia, Kyphosis, Scoliosis, Short hard palate |
ORPHA:1969 |
Cutaneous Neuroendocrine Carcinoma |
|
Lymphoid leukemia, Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
Whim Syndrome |
|
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R... |
ORPHA:51636 |
Lambert-Eaton Myasthenic Syndrome |
|
Progressive proximal muscle weakness, Xerostomia, Abnormality of the orbital region, Keratoconjun... |
ORPHA:43393 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Horseshoe kidney, ... |
OMIM:201750 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Leukocytosis, Osteoporosis, Decreased eosinophil count, Vertebral compression fracture, Lymphopenia |
ORPHA:99889 |
Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Small scrotum, Ventricular septal defect, Anterior pituitary hypopla... |
OMIM:181450 |
Hydranencephaly |
|
Optic nerve hypoplasia, Postnatal growth retardation, Spastic diplegia, Opisthotonus, Intrauterin... |
ORPHA:2177 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia, Tubulo... |
OMIM:607944 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr... |
ORPHA:1677 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Optic atrophy, Pigmentary retinopathy, Neurodegeneration, Cerebral degeneration, Retinal degenera... |
OMIM:234200 |
Cono-Spondylar Dysplasia |
|
Anteverted nares, Short neck, Kyphosis, Partial agenesis of the corpus callosum, Poor coordinatio... |
ORPHA:420794 |
Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Widely spaced tee... |
OMIM:300942 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom... |
OMIM:231550 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Conjunctivitis, Ot... |
ORPHA:2968 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Inflammation of the large ... |
OMIM:106300 |
Holt-Oram Syndrome |
|
Kyphosis, Radioulnar synostosis, Scoliosis, Joint stiffness |
ORPHA:392 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Clitoral hypertrophy, Hypogonadotropic hypogonadism, Abnormal external genita... |
ORPHA:90794 |
Marburg Hemorrhagic Fever |
|
Abnormality of the gastrointestinal tract, Reticulocytosis, Renal insufficiency, Lymphopenia, Per... |
ORPHA:99826 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis, Knee flexion contracture |
OMIM:603387 |
Sotos Syndrome |
|
Ureteral duplication, Astrocytoma, Cerebellar vermis hypoplasia, Tremor, Vesicoureteral reflux, C... |
ORPHA:821 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Epididymal c... |
OMIM:193300 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Cleft palate, Hypoplasia ... |
OMIM:119500 |
Complement Factor B Deficiency |
|
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestas... |
OMIM:267010 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
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Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Aplasia Cutis-Myopia Syndrome |
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Meningitis |
ORPHA:1117 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
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Ambiguous genitalia, Depressed nasal bridge, Pancreatic fibrosis, Short stature |
OMIM:615503 |
Shwachman-Diamond Syndrome 2 |
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Hepatomegaly, Short stature, Steatorrhea, Recurrent infections, High palate, Hyperechogenic pancr... |
OMIM:617941 |
Tropical Endomyocardial Fibrosis |
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Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... |
ORPHA:75565 |
Hyperlipoproteinemia, Type I |
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Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Coffin-Lowry Syndrome |
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Telecanthus, Wide nose, Short stature, Anteverted nares, Highly arched eyebrow, Kyphosis, Rectal ... |
OMIM:303600 |
Sheehan Syndrome |
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Dyspareunia, Chronic lymphocytic meningitis, Decreased female libido, Reduced circulating prolact... |
ORPHA:91355 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Keratitis, Decreased number of small peripheral myelinated nerve fibers, Pain insensitivity, Oste... |
OMIM:256800 |
Somatomammotropinoma |
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Wide nose, Cerebral palsy, Palpebral edema, Dysmenorrhea, Elevated circulating growth hormone con... |
ORPHA:314769 |
Primary Hyperoxaluria Type 1 |
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Calcinosis, Hyperoxaluria, Abnormality of the dentition, Abnormality of circulating enzyme level,... |
ORPHA:93598 |
Complement Factor I Deficiency |
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Recurrent urinary tract infections, Renal insufficiency, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
Reynolds Syndrome |
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Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis... |
OMIM:613471 |
Pmm2-Cdg |
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Osteopenia, Joint laxity, Multiple joint contractures, Kyphoscoliosis, Long fingers, Reduced thyr... |
ORPHA:79318 |
Granulomatosis With Polyangiitis |
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Recurrent respiratory infections, Pericarditis, Sinusitis, Skin rash, Increased inflammatory resp... |
ORPHA:900 |
Immunodeficiency 55 |
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Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy |
OMIM:617827 |
Absence Of The Pulmonary Artery |
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Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Abnormal reproductive system morphology, High palate, Supernumerary nipple, Bifid uterus |
ORPHA:1521 |
Viss Syndrome |
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Chronic gastritis, High, narrow palate, Right ventricular dilatation, High palate, Gastroesophage... |
OMIM:619472 |
Rat-Bite Fever |
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Back pain, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pus... |
ORPHA:31205 |
Alström Syndrome |
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Thoracic scoliosis, Decreased response to growth hormone stimulation test, Urinary incontinence, ... |
ORPHA:64 |
Malt Lymphoma |
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Mediastinal lymphadenopathy, Anemia, Lymphadenopathy |
ORPHA:52417 |
Sepsis In Premature Infants |
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Hepatomegaly, Disseminated viral infection, Splenomegaly, Severe infection, Jaundice, Enterocolit... |
ORPHA:90051 |
Norrie Disease |
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Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... |
ORPHA:649 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
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Lymphadenopathy, Anemia, Hepatosplenomegaly |
ORPHA:85408 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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High, narrow palate, Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Cherubism |
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Narrow palate, Submandibular lymph node enlargement |
OMIM:118400 |
Reactive Arthritis |
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Osteomyelitis, Joint stiffness, Cartilage destruction, Enthesitis, Weight loss, Arthritis, Inflam... |
ORPHA:29207 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Aplasia of the uterus, Aplasia of the vagina, Unilateral renal agenesis |
ORPHA:457284 |
Cerebrocostomandibular Syndrome |
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Short stature, Kyphosis, Cleft palate, Glossoptosis, Tracheomalacia, Intrauterine growth retardat... |
ORPHA:1393 |
Cutis Laxa, Autosomal Recessive, Type Iic |
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Bilateral cryptorchidism, Pyloric stenosis, Mitral valve prolapse, Nephrocalcinosis, Biventricula... |
OMIM:617402 |
Ectodermal Dysplasia And Immunodeficiency 2 |
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Aplasia of the sweat glands, Splenomegaly, Recurrent infection of the gastrointestinal tract, Hep... |
OMIM:612132 |
Plague |
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Hepatomegaly, Hematemesis, Splenomegaly, Lymphadenitis, Enterocolitis, Endocarditis, Enlarged mes... |
ORPHA:707 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
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Abnormality of the urethra, Congenital pyloric atresia, Ureterocele, Glomerular sclerosis, Hydron... |
ORPHA:158684 |
Duodenal Atresia |
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Abnormality of the pancreas, Annular pancreas, Duodenal atresia |
ORPHA:1203 |
Lymphedema-Distichiasis Syndrome |
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Ptosis, Kyphosis, Cleft palate, Conjunctivitis, Webbed neck, Distichiasis, Ectropion |
OMIM:153400 |
Alport Syndrome |
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Macular degeneration, Retinal flecks, Clitoral hypertrophy |
ORPHA:63 |
Full Nf2-Related Schwannomatosis |
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Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract |
ORPHA:637 |
Acromesomelic Dysplasia 3 |
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Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulati... |
OMIM:609441 |
Pancreas, Annular |
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Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
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Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Systemic Lupus Erythematosus |
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Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria, Leukopenia, T... |
ORPHA:536 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Hypoplasia of the uterus, Increased circulating gonadotropin level, High palate |
OMIM:110100 |
Peters Plus Syndrome |
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Ureteral duplication, Multicystic kidney dysplasia, Intestinal fistula, Hypospadias, Cryptorchidi... |
ORPHA:709 |
Leptospirosis |
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Hepatomegaly, Pericarditis, Cellular urinary casts, Jaundice, Hepatitis, Lymphadenopathy, Acute k... |
ORPHA:509 |
Wiskott-Aldrich Syndrome |
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Recurrent respiratory infections, Sinusitis, Eczema, Epistaxis, Abnormality of the menstrual cycl... |
ORPHA:906 |
Infection-Related Hemolytic Uremic Syndrome |
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Brain abscess, Anuria, Pneumonia, Nephrotic range proteinuria, Intestinal perforation, Myocarditi... |
ORPHA:544482 |
Woodhouse-Sakati Syndrome |
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Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... |
ORPHA:3464 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Cerebellar atrophy, Dystonia, Babinski sign, Hemiparesis, Peripapillary atrophy, Tetraparesis, Li... |
OMIM:175780 |
Neuroocular Syndrome |
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Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ... |
OMIM:619539 |
Tropical Pancreatitis |
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Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... |
ORPHA:103918 |
Ehlers-Danlos Syndrome, Vascular Type |
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Cryptorchidism, Cystocele, Mitral valve prolapse, Cervical insufficiency, Uterine rupture, Uterin... |
OMIM:130050 |
Congenital Total Pulmonary Venous Return Anomaly |
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Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Cardiomegaly |
ORPHA:79280 |
Yunis-Varon Syndrome |
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Cerebellar vermis hypoplasia, Anterior concavity of thoracic vertebrae, High palate, Aspiration p... |
OMIM:216340 |
African Trypanosomiasis |
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Hepatomegaly, Renal insufficiency, Pericarditis, Urinary incontinence, Splenomegaly, Jaundice, My... |
ORPHA:3385 |
Acromelic Frontonasal Dysostosis |
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Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Neu-Laxova Syndrome 1 |
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Ventricular septal defect, Bifid uterus, Cryptorchidism, Cleft palate, Transposition of the great... |
OMIM:256520 |
Peters-Plus Syndrome |
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Ureteral duplication, Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Ventricular se... |
OMIM:261540 |
Microphthalmia, Syndromic 2 |
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Retinal detachment, Hypospadias, Remnants of the hyaloid vascular system, Developmental cataract,... |
OMIM:300166 |
Woodhouse-Sakati Syndrome |
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Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
Immunodeficiency 68 |
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Lymphadenitis, Recurrent skin infections, Septic arthritis, Recurrent meningitis |
OMIM:612260 |
Pancreatitis, Hereditary |
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Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic i... |
OMIM:167800 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effusion, Hepatic calcifica... |
ORPHA:51608 |
Mowat-Wilson Syndrome |
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Bifid scrotum, Ventricular septal defect, Hypospadias, Supernumerary nipple, Aganglionic megacolo... |
OMIM:235730 |
Pallister-Killian Syndrome |
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Anal stenosis, Small scrotum, Hypospadias, Ventricular septal defect, Supernumerary nipple, Intes... |
OMIM:601803 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Small scrotum, Hypospadias, Cryptorchidism, Narrow palate, Anteriorly displaced genitalia, High p... |
OMIM:276820 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Joint laxity, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Disproportionat... |
OMIM:300106 |
Loeys-Dietz Syndrome |
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High palate, Bifid uvula, Uterine rupture |
ORPHA:60030 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Urinary incontinence, Kyphosis, Difficulty walking, Scoliosis, Aspiration pneumonia |
OMIM:619482 |
Sacral Defect With Anterior Meningocele |
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Back pain, Absence of the sacrum, Neurogenic bladder, Hemisacrum, Rectal abscess, Urinary retenti... |
OMIM:600145 |
Wiskott-Aldrich Syndrome |
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Recurrent herpes, Eczema, Epistaxis, Recurrent upper respiratory tract infections, Recurrent pneu... |
OMIM:301000 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
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Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
Microphthalmia, Syndromic 1 |
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Hydroureter, Bicuspid aortic valve, Hypospadias, Aganglionic megacolon, Cryptorchidism, High, nar... |
OMIM:309800 |
Holoprosencephaly 2 |
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Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:157170 |