| Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
| Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Limited elbow flexion, Abnormal bone ossification, Short palm, S... |
ORPHA:79106 |
| Atonic-Astatic Syndrome Of Foerster |
|
Ataxia, Inability to walk, Hypotonia, Abasia, Generalized hypotonia |
OMIM:209100 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s... |
OMIM:600121 |
| Posterior Column Ataxia |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception, Scoliosis |
OMIM:176250 |
| Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... |
ORPHA:75508 |
| Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
| Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
| Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Failure to thrive, Gastritis, Skin rash, Perianal abscess, Diar... |
OMIM:618108 |
| Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
| Striatonigral Degeneration, Childhood-Onset |
|
Lumbar hyperlordosis, Unsteady gait, Hypotonia, Ankle clonus, Hypertonia, Steppage gait, Dystonia... |
OMIM:617054 |
| Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
| Spastic Paraplegia 87, Autosomal Recessive |
|
Lower limb spasticity, Lumbar hyperlordosis, Babinski sign, Upper limb spasticity, Dystonia, Spas... |
OMIM:619966 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... |
ORPHA:2501 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Waddli... |
ORPHA:94068 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... |
ORPHA:436159 |
| Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin... |
OMIM:619565 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Uveitis, Inflammation of the la... |
OMIM:614700 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Ab... |
ORPHA:2790 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Skeletal muscle atr... |
OMIM:616716 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Au... |
OMIM:616100 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Feeding difficulties in infancy, Increased T cell count, Increased circulating IgG level, Inflamm... |
ORPHA:98813 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... |
OMIM:616576 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... |
OMIM:619598 |
| Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
| Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Failure to thrive, Mucoid diarrhea, Increased circulating IgE l... |
OMIM:615767 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T... |
ORPHA:53697 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Iron deficiency... |
ORPHA:37042 |
| Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Skeletal muscle atrophy, Tapered finger, Hyperlordosis, Osteolysis, Foot... |
ORPHA:970 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Waddling gait, Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis... |
ORPHA:93308 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb spasticity, Lower limb muscle weakness, Kyphosis, Inability t... |
OMIM:611225 |
| Winchester Syndrome |
|
Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Generalized os... |
OMIM:277950 |
| Hyperostosis Corticalis Generalisata |
|
Facial palsy, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology... |
ORPHA:3416 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Chronic diarrhea, Atopic dermat... |
OMIM:617638 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humerus, Aplasia/Hy... |
ORPHA:2141 |
| Sclerosteosis |
|
Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, Facial palsy, 2-3 f... |
ORPHA:3152 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Waddling gait, Epiphyseal dysplasia, Short metacarpal, Pes planus, Ovoid vertebral bodies, Joint ... |
OMIM:132400 |
| Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Hypoplastic frontal sinuses, Reduced bone mineral de... |
OMIM:265900 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Waddling gait, Kyphosis, Reduced bone mineral density, Delayed ossification of carpal bones, Shor... |
OMIM:618392 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... |
OMIM:600785 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Waddling gait, Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspon... |
OMIM:617974 |
| Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral... |
ORPHA:2635 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Rhizomelia, Micrognathia, Flexion contracture, Epiphyseal stippling, A... |
OMIM:222765 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, I... |
OMIM:616756 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Mi... |
OMIM:602471 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Ankle... |
OMIM:600561 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Skeletal muscle atrophy, Quadriceps muscle weakness, High palate, Type 1 muscle fiber predominanc... |
OMIM:620389 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Feeding difficulties in infancy, Hypertonia, High palate, Type 1 muscle fiber predominance, Mildl... |
OMIM:161800 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Lower limb spasticity, Hyperlordosis, Spinal rigidity, Kyphosis, Hypotonia, Tip-toe gait, Gait di... |
OMIM:617404 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Hyperlordosis, Tremor, Kyphosis, Inability to ... |
OMIM:128100 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ... |
OMIM:156530 |
| Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... |
OMIM:602080 |
| Gne Myopathy |
|
Fatty replacement of skeletal muscle, Quadriceps muscle weakness, Abnormality of the foot muscula... |
ORPHA:602 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Recurrent respiratory infections, Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia,... |
OMIM:300635 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno... |
ORPHA:2494 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Splenomegaly, Recurrent upper respiratory tract inf... |
OMIM:613101 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Congenital Myopathy 15 |
|
Osteopenia, Waddling gait, Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased ... |
OMIM:620161 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Thoracolumbar scoliosis, Eczema, Eosinophilia, Keratitis, Incre... |
OMIM:618523 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S... |
OMIM:171480 |
| Pseudoachondroplasia |
|
Limited hip extension, Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Os... |
OMIM:177170 |
| Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Apnea, Fatty replacement of skeletal muscle, Flexion contracture, Congen... |
OMIM:256030 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Absence of lymph node germina... |
ORPHA:277 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Netherton Syndrome |
|
Sparse scalp hair, Villous atrophy, Failure to thrive, Recurrent skin infections, Eczema, Allergi... |
OMIM:256500 |
| Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Dense metaphyseal bands, Osteopenia, Slender long bones with narrow diaphyses |
ORPHA:50811 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, T lymphocytopenia, Alopecia universalis, Hemolytic anemia, Psoriasiform dermatit... |
OMIM:606367 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Asthma, Increas... |
ORPHA:217390 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Recurrent fr... |
OMIM:239000 |
| Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
| Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... |
OMIM:619632 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c... |
OMIM:619381 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Chronic diarrhea, Recurrent pne... |
OMIM:619281 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, High pala... |
ORPHA:443811 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... |
OMIM:600081 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Knee flexion contracture, Steppage gait, Lower limb muscle weakness, Waddling gait, Scapular wing... |
OMIM:615290 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d... |
OMIM:619398 |
| Aspergillosis |
|
Sinusitis, Neutropenia, Cough, Infectious encephalitis, Chronic pulmonary obstruction, Bronchiect... |
ORPHA:1163 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Eosinophi... |
OMIM:243700 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
| Progressive Pseudorheumatoid Dysplasia |
|
Waddling gait, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyph... |
OMIM:208230 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Eos... |
OMIM:618282 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
| Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... |
ORPHA:3261 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Elbow contracture, V... |
OMIM:606612 |
| Mixed Connective Tissue Disease |
|
Myositis, Xerostomia, Leukopenia, Gastroesophageal reflux, Hemolytic anemia, Alopecia, Mediastina... |
ORPHA:809 |
| Immunodeficiency 23 |
|
Increased circulating IgG level, High palate, Generalized hypotonia, Neutropenia, Hemolytic anemi... |
OMIM:615816 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Somatic sensory dysfunction, Elevated circula... |
ORPHA:90117 |
| Bethlem Myopathy 2 |
|
Scapular winging, Distal joint laxity, Kyphosis, Flexion contracture, Hip dislocation, Myopathy, ... |
OMIM:616471 |
| Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... |
OMIM:271630 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Scapular winging, Lumbar hyperlordosis, Pelvic girdle muscle atrophy, Facial palsy, Pe... |
OMIM:167320 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... |
ORPHA:178464 |
| Ck Syndrome |
|
Hyperlordosis, Micrognathia, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Abnormal dig... |
OMIM:300831 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi... |
ORPHA:2019 |
| Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis,... |
OMIM:618394 |
| Parastremmatic Dwarfism |
|
Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis |
OMIM:168400 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Micrognathia, Short neck, Flexion contracture, Hyperextensibility at wrists, Knee flexion contrac... |
ORPHA:75840 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... |
OMIM:618969 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Short femur, Short stature, Tarsal synostosis, Sandal gap, Micrognathia, Flat capital... |
OMIM:147891 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,... |
ORPHA:2902 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Axial hypotonia, Small for gestational age, Eczema, Failure to thrive in infancy, Decreased propo... |
OMIM:617241 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Hyperlordosis, Fatty replacement of skeletal muscle, Osteolysis, Increased variabi... |
ORPHA:52430 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Abnormal cranial nerve morphology, Acute infectious pneumonia, Unusual gast... |
ORPHA:73263 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy, Recurrent fractures, Micrognathia, Short neck, Limitation of joint mobil... |
ORPHA:1486 |
| Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb... |
OMIM:619795 |
| Rigid Spine Syndrome |
|
Waddling gait, Hyperlordosis, Spinal rigidity, Scoliosis, Generalized hypotonia |
ORPHA:97244 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent pneumo... |
OMIM:619752 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Abnormal form of the verteb... |
ORPHA:93160 |
| Masa Syndrome |
|
Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Shuffling gait |
OMIM:303350 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spinal rigidity, Limb-gird... |
OMIM:620386 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Limb undergrowth, Abnormal cortical bone morphology, Increased bone mineral density, Abnormal lim... |
ORPHA:2204 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan... |
OMIM:617006 |
| Immunodeficiency 76 |
|
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis,... |
OMIM:619164 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Camptodactyly of finger, Acute rhabdomyolysis, Micrognathia, Kyphosis, Osteoporosis, Abno... |
ORPHA:48431 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis, Frequent falls |
OMIM:300718 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I... |
ORPHA:183675 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero... |
OMIM:615198 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short femur, Fractured radius, Decreased fibular diameter, Multiple prenatal fracture... |
OMIM:616897 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:618982 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Increased circulating IgE level, Rec... |
OMIM:147060 |
| Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Pancytopenia, Skin rash, Failure to thrive, Elevated circulating C-reactive prot... |
OMIM:616050 |
| Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... |
ORPHA:166277 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating IgG level, T lymphocytopenia, Lymphocytosis, Neutropenia, Decreased proport... |
ORPHA:169154 |
| Caffey Disease |
|
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Scoliosi... |
ORPHA:1310 |
| Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Feeding d... |
OMIM:603034 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Short stature, Premature osteoarthritis, Coxa vara, Genu ... |
OMIM:607078 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Hip contracture, Necrotizing enterocolitis, Inguinal hernia, Axial hypotonia, Elevated circulatin... |
OMIM:616809 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal ... |
ORPHA:93351 |
| Masp2 Deficiency |
|
Complement deficiency, Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... |
OMIM:619079 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Alopecia, Eczema, Glomerulonephritis, Autoimmune thrombocytopenia, Eosinophilia,... |
OMIM:304790 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Lumbar hyperlordosis, Distal amyotrophy, Scoliosis, Type 1 muscle fiber predomin... |
OMIM:619042 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Waddling gait, Unsteady gait, Lumbar hyperlordosis |
ORPHA:280333 |
| Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... |
OMIM:259450 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, ... |
OMIM:613848 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde... |
ORPHA:1159 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... |
OMIM:241530 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Spinal rigidity, Flexion contracture, Scoliosis, Loss of ambulation, Increased variability in mus... |
OMIM:300717 |
| Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hypertonia, Generalized hypoton... |
OMIM:615846 |
| Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ... |
OMIM:251450 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, B... |
OMIM:609052 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,... |
OMIM:118651 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Pes planus, Rhizomelia, Femoral bowing, Platyspondyly, Short 5th metacarpal, Thoracic kyphosis, S... |
OMIM:619638 |
| Monosomy 5P |
|
Microretrognathia, Finger syndactyly, Recurrent fractures, Short neck, Small hand, Joint hyperfle... |
ORPHA:281 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Un... |
OMIM:608099 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Inability to walk, L... |
ORPHA:266 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Hand muscle atrophy, Elevated circulating creatine kinase concentration, Quadriceps muscle weakne... |
ORPHA:435387 |
| Igg4-Related Aortitis |
|
Low back pain, Intestinal obstruction, Increased inflammatory response, Increased circulating IgG... |
ORPHA:449400 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Joint laxity, Skeletal muscle atrophy, Waddling gait, Ankle flexion contracture, Hyperlordosis, C... |
OMIM:617760 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Equinovarus def... |
ORPHA:319195 |
| Extensor Tendons Of Finger Anomalies |
|
Skeletal muscle atrophy, Limitation of joint mobility, Osteoporosis, Camptodactyly of finger |
ORPHA:3294 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Genu valgum, Deviation of ... |
ORPHA:2831 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
| Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... |
ORPHA:1263 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Waddling gait, Lumbar ... |
ORPHA:99642 |
| Netherton Syndrome |
|
Sparse scalp hair, Recurrent respiratory infections, Skin rash, Eczema, Sparse eyelashes, Malabso... |
ORPHA:634 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Thrombocytosis, Elevated circulating C-reactive protein concentration, Microc... |
OMIM:604416 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Waddling gait, Difficulty walking, Scoliosis, Hyperlordosis |
OMIM:611067 |
| Myasthenic Syndrome, Congenital, 14 |
|
Waddling gait, Pes planus, Scapular winging, Hyperlordosis, Centrally nucleated skeletal muscle f... |
OMIM:616228 |
| Familial Expansile Osteolysis |
|
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex |
OMIM:174810 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Shoulder flexion contracture, S... |
OMIM:619566 |
| Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol... |
OMIM:142900 |
| Syndromic Diarrhea |
|
Villous atrophy, Brittle hair, Bloody diarrhea, Colitis, Hypoplasia of the thymus, Hepatoblastoma... |
ORPHA:84064 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Thoracolumbar scoliosis, Tapered finger... |
OMIM:313420 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Radial club hand, Ulnar b... |
ORPHA:2878 |
| Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Waddling gait, Thoracic scoliosis, Hyperlordosis, Tip-toe gait, Frequent falls |
ORPHA:62 |
| Congenital Myopathy 10B, Mild Variant |
|
Elevated circulating creatine kinase concentration, Elbow contracture, Reduced forced vital capac... |
OMIM:620249 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... |
OMIM:250460 |
| Gorham-Stout Disease |
|
Osteopenia, Torticollis, Abnormal pelvis bone morphology, Osteomyelitis, Osteolysis involving bon... |
ORPHA:73 |
| Nemaline Myopathy 7 |
|
Waddling gait, Lumbar hyperlordosis, Kyphoscoliosis, Hypotonia, Gait disturbance, Frequent falls |
OMIM:610687 |
| Immunodeficiency 104 |
|
Pneumonia, Eczema, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymphadenopathy, T ... |
OMIM:608971 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Genu valgum, Slender long bones with narrow diaphyses, Disharmonious carpal bone, Sho... |
OMIM:608154 |
| Omodysplasia 2 |
|
Short humerus, Micrognathia, Anterior wedging of T11, Fibular hypoplasia, Hypoplastic distal hume... |
OMIM:164745 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... |
OMIM:301074 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulating antibody le... |
ORPHA:397596 |
| Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Chronic p... |
OMIM:618131 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures... |
OMIM:300554 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Skin rash, Pneumon... |
OMIM:300400 |
| Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Patho... |
ORPHA:83468 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, S... |
OMIM:602450 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvic girdle bone ... |
ORPHA:2370 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... |
OMIM:264700 |
| Smith-Mccort Dysplasia 1 |
|
Waddling gait, Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, H... |
OMIM:607326 |
| Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Micrognathia... |
ORPHA:536516 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... |
OMIM:277440 |
| Isolated Glycerol Kinase Deficiency |
|
Hypotonia, Scoliosis, Hyperlordosis |
ORPHA:408 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Pes planus, Nonprogressive muscular atrophy, Spina... |
OMIM:600175 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... |
OMIM:243150 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Difficulty walking, Gait disturbance, Generalized hypotonia, Hyperlordosis |
ORPHA:352470 |
| Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,... |
OMIM:609223 |
| Myosclerosis, Autosomal Recessive |
|
Skeletal muscle atrophy, Lumbar hyperlordosis, Thoracolumbar scoliosis, Elevated circulating crea... |
OMIM:255600 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Pes planus, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of... |
OMIM:609616 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
| Codas Syndrome |
|
Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac... |
OMIM:600373 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Thenar muscle atrophy, Flexion contra... |
ORPHA:157965 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex, Coxa valga, Short tubular bones of ... |
ORPHA:85184 |
| Idiopathic Achalasia |
|
Bronchitis, Wheezing, Malnutrition, Dysphagia, Weight loss, Gastroesophageal reflux, Cough, Decre... |
ORPHA:930 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Chron... |
OMIM:212050 |
| Arthrogryposis, Distal, Type 4 |
|
Osteopenia, 2-5 finger cutaneous syndactyly, Torticollis, Single transverse palmar crease, Equino... |
OMIM:609128 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Pes planus, Skeletal muscle atrophy, Congenital hip dislocation, Talipes, Ankle flexion contractu... |
OMIM:117000 |
| Congenital Myopathy 16 |
|
Lumbar hyperlordosis, Postural tremor, Spinal rigidity, Tongue tremor, Scoliosis |
OMIM:618524 |
| Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Coronal cle... |
ORPHA:1952 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Back pain, Skeletal muscle atrophy, Scapular winging, Short neck, Spinal rigidity, Achilles tendo... |
OMIM:300696 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Increased circulating IgE level, Secretory diarrhea, Recurrent pneumonia, Vomiting, Long... |
OMIM:616069 |
| Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Difficulty walking, Hyperlordosis |
ORPHA:363454 |
| Atelosteogenesis, Type I |
|
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia... |
OMIM:108720 |
| Diastrophic Dysplasia |
|
Bowing of the long bones, Increased bone mineral density, Camptodactyly of finger, Proximal place... |
ORPHA:628 |
| Weismann-Netter Syndrome |
|
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho... |
OMIM:112350 |
| Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short long bone, Flared elbow... |
ORPHA:1423 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Waddling gait, Lower limb muscle weakness, Respiratory in... |
ORPHA:2590 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Halberd-shaped pelvis, Narrow greater... |
OMIM:184252 |
| Grant Syndrome |
|
Bowing of the long bones, Micrognathia, Joint hyperflexibility, Abnormal pelvic girdle bone morph... |
ORPHA:2097 |
| Cranio-Osteoarthropathy |
|
Abnormality of the knee, Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of ... |
ORPHA:1525 |
| Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Lumbar hyperlordosis, Tibialis anterior muscle atrophy, Elevated circula... |
OMIM:160500 |
| Gm1 Gangliosidosis |
|
Tremor, Abnormal form of the vertebral bodies, Gastroesophageal reflux, Decerebrate rigidity, Asp... |
ORPHA:354 |
| Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Abnormal sacrum morphology, Abnormal fibula morphology, Coxa vara, Abn... |
ORPHA:1988 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Chronic diarrhea, Hepatosplen... |
ORPHA:911 |
| Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe jo... |
OMIM:620310 |
| Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met... |
OMIM:184260 |
| Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Recurrent respiratory infections, Gastritis, Folate-unresponsive megaloblastic anemia, Abnormal e... |
ORPHA:2575 |
| Epiphyseal Chondrodysplasia, Miura Type |
|
Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino... |
OMIM:615923 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Spinal c... |
OMIM:307800 |
| Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scol... |
OMIM:234250 |
| Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... |
OMIM:616098 |
| Huntington Disease-Like 1 |
|
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Clumsiness... |
ORPHA:157941 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ... |
ORPHA:166011 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
| Bruck Syndrome |
|
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon... |
ORPHA:2771 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Growth delay, ... |
OMIM:266600 |
| Childhood-Onset Nemaline Myopathy |
|
Micrognathia, Flexion contracture, Increased muscle lipid content, Type 1 muscle fiber predominan... |
ORPHA:171439 |
| Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
| Immunodeficiency 85 And Autoimmunity |
|
Tube feeding, Lymphopenia, Villous atrophy, Recurrent respiratory infections, Failure to thrive i... |
OMIM:619510 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
| Epidermolysis Bullosa Acquisita |
|
Abdominal pain, Abnormal hair morphology, Atypical scarring of skin, Inflammation of the large in... |
ORPHA:46487 |
| Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy... |
OMIM:613953 |
| Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Micrognathia, Hip dislocation, C... |
ORPHA:2484 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Recurrent upper respiratory tract i... |
OMIM:209920 |
| Melnick-Needles Syndrome |
|
Short humerus, Pes planus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphos... |
OMIM:309350 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p... |
OMIM:609813 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Joint hyperflexibility, Brachydactyly, Osteoporosis, Short distal phalanx of finger |
ORPHA:2787 |
| Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... |
ORPHA:93296 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Abnormal hair m... |
ORPHA:2314 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Microretrognathia, Hip contracture, Pes planus, Kyphoscoliosis, Coxa valga, Micrognathia, Hyperlo... |
OMIM:618363 |
| Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Short phalanx of finger, Hypoplastic cer... |
ORPHA:56304 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Joint laxity, Short metacarpal, Pes planus, Waddling gait, Camptodactyly of finger, K... |
OMIM:612350 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... |
ORPHA:93360 |
| Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Necrotizing enterocolitis |
OMIM:613860 |
| Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract... |
ORPHA:93307 |
| Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Micrognathia, Short neck, Kyphosis,... |
ORPHA:3409 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Macrocytic anemia, Alopecia, Autoimmune thrombocytopenia, Celiac disease, Iri... |
ORPHA:227990 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Increased intervertebral space, Opisthotonus, T lymphocytopenia, Hypertonia, Generalized hypotoni... |
ORPHA:508533 |
| Roussy-Lévy Syndrome |
|
Impaired vibratory sensation, Skeletal muscle atrophy, Somatic sensory dysfunction, Postural trem... |
ORPHA:3115 |
| Typical Nemaline Myopathy |
|
Elevated circulating creatine kinase concentration, Short neck, Fatigable weakness of distal limb... |
ORPHA:171436 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Postural tremor, Ankle fle... |
OMIM:616668 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Pustule, Paronychia, Increased circulating IgE level, Bloody diarrhe... |
OMIM:614328 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... |
ORPHA:3329 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L... |
OMIM:618213 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Ataxia, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased ... |
OMIM:136300 |
| Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, Colon cancer, Abnorm... |
ORPHA:401911 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Leuk... |
ORPHA:227982 |
| Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
| Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... |
ORPHA:263665 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... |
OMIM:614878 |
| Lead Poisoning |
|
Anorexia, Abnormal T cell morphology, Tubulointerstitial nephritis, Vomiting, Nausea, Abdominal p... |
ORPHA:330015 |
| Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Spasticity, Babinski sign, Broad-based gait, Hyperlordosis |
OMIM:162370 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Elevated circulating creatine kinase concentration, Generalized weakness of limb muscles, Limb-gi... |
ORPHA:353327 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Waddling gait, Stiff neck, Kyphoscoliosis, Joint stiffness, Hypoplastic ilia, Coxa valga, Vertebr... |
OMIM:616583 |
| Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Anorexia, Splenomegaly,... |
OMIM:209950 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Generalized dystonia, Inability to walk, Dysphagia, Weight loss, Opisthotonus,... |
ORPHA:216866 |
| Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Gastroesophageal reflux, Recurrent aspiration pneumonia, Intention tremor, Neonatal respiratory d... |
ORPHA:221139 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris... |
OMIM:259600 |
| Achondroplasia |
|
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... |
OMIM:100800 |
| Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle f... |
OMIM:255310 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Reduced na... |
ORPHA:540 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Waddling gait, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Scapular winging, Frequent fa... |
ORPHA:353 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... |
ORPHA:457395 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity... |
OMIM:613327 |
| Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Allergic rhinitis, Absent facial hair, Abnormalit... |
ORPHA:90368 |
| Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Limited hip extension, Increased Z-disc wid... |
OMIM:617114 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Pneumonia, Abnorm... |
ORPHA:229717 |
| Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Decreased calvarial ossification, Pla... |
OMIM:259440 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Chronic diarrhea, Lymphopenia, ... |
OMIM:102700 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Alopecia, Malabsorption, Asplen... |
OMIM:240300 |
| Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... |
ORPHA:331235 |
| Richieri Costa-Da Silva Syndrome |
|
Decreased muscle mass, Diastasis recti, Kyphoscoliosis, Short neck, Metatarsus adductus, Inabilit... |
ORPHA:3101 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
| Congenital Myopathy 22A, Classic |
|
Thoracic scoliosis, Micrognathia, Ragged-red muscle fibers, Generalized amyotrophy, Waddling gait... |
OMIM:620351 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... |
OMIM:603546 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ... |
ORPHA:289157 |
| Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short neck, Hypoplastic ilia, Hume... |
ORPHA:93333 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger |
OMIM:618453 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Weakness of facial musculature, Kypho... |
OMIM:618484 |
| Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral... |
ORPHA:249 |
| Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Respi... |
ORPHA:2686 |
| Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocat... |
OMIM:620269 |
| Isolated Osteopoikilosis |
|
Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ... |
ORPHA:166119 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate |
OMIM:137215 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Rickets of the... |
ORPHA:289176 |
| Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... |
OMIM:223800 |
| Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Anterior uveitis, Hemolytic anemia, Skin rash, Chorea, Colitis, Ileal ulcer, Lymphopenia, Thrombo... |
OMIM:616744 |
| Spastic Paraplegia 84, Autosomal Recessive |
|
Impaired vibratory sensation, Hip contracture, Ankle flexion contracture, Hoffmann sign, Babinski... |
OMIM:619621 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Joint laxity, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Angulated muscle fiber... |
OMIM:617066 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture,... |
OMIM:605637 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow extension, Coron... |
OMIM:614078 |
| Proteus Syndrome |
|
Kyphoscoliosis, Mandibular hyperostosis, Spinal canal stenosis, Hypertrophy of skin of soles, Cal... |
OMIM:176920 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Elevated circulating creatine kinase concentration, Facial palsy, Hyperlordosis, Cryptorchidism, ... |
OMIM:613156 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy... |
OMIM:144750 |
| Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi... |
ORPHA:56305 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Kyphoscoliosis, Micrognathia,... |
OMIM:215100 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... |
OMIM:619824 |
| Dent Disease 1 |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures... |
OMIM:300009 |
| Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Brittle hair, Small for gestational age, Diarrhea, Chronic diarrhea, Chronic hep... |
OMIM:614602 |
| Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... |
OMIM:617952 |
| Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Pes planus, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusio... |
OMIM:304150 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Fibular hypoplasia, Aplasia/Hyp... |
OMIM:612447 |
| Myasthenic Syndrome, Congenital, 16 |
|
Gait disturbance, Periodic paralysis, Hyperlordosis |
OMIM:614198 |
| Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
| Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Hypoplastic pubic b... |
ORPHA:93346 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Kyphoscoliosis, Osteoporosis, Diaphyse... |
OMIM:614727 |
| Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Scoliosis |
OMIM:615066 |
| Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Respiratory insufficiency, Weight lo... |
ORPHA:26790 |
| Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Symphalangi... |
ORPHA:2741 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Celiac disease, Increased circulating IgE level, Eczema, Thyroiditis |
OMIM:618985 |
| Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... |
ORPHA:482 |
| Bronchogenic Cyst |
|
Back pain, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal stomach morphology, Co... |
ORPHA:2357 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Abnormal lymphocyte proliferation, Elevated circulating C-re... |
OMIM:619573 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Infantile axial hypotonia, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ... |
ORPHA:225147 |
| Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Ver... |
OMIM:301014 |
| Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Rocker bottom foot, Single transverse palmar crease, Micrognathia, Short... |
OMIM:611890 |
| Sialidosis Type 2 |
|
Skeletal muscle atrophy, Ataxia, Tremor, Kyphosis, Flexion contracture, Osteoporosis, Pedal edema |
ORPHA:87876 |
| Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... |
OMIM:114000 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
| Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Anterior beaking of lu... |
OMIM:253000 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral bowing, Metaphyseal cuppin... |
OMIM:156500 |
| Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Spinal canal stenosis,... |
ORPHA:582 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Dystonia, Ataxia, Head titubation, Kyphosis, Interstitial emphysema, Bronchiectasis, Optic atroph... |
OMIM:619708 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bowing, Short long bone,... |
OMIM:618188 |
| Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, Facial palsy, Diaphragmatic paralysis, Increased variability in muscle f... |
OMIM:614399 |
| Perrault Syndrome 1 |
|
Ataxia, Osteoporosis, Spastic diplegia, Gait ataxia, Talipes equinovarus, Scoliosis, Pes cavus, I... |
OMIM:233400 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Spinal rigidity, Gait disturbance, Hypotonia, Hyperlordosis |
ORPHA:157973 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Hypoalbuminemia, Obesity |
ORPHA:88643 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... |
OMIM:615508 |
| Mycetoma |
|
Back pain, Abnormality of the knee, Osteomyelitis, Abnormality of the hand, Structural foot defor... |
ORPHA:2583 |
| Ige Responsiveness, Atopic |
|
Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
| Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Kyphosis, Osteoporosis, Gait disturbance, Vertebral compression fracture |
ORPHA:85193 |
| Immunodeficiency 40 |
|
Rectal fistula, Respiratory tract infection, Chronic diarrhea, Recurrent pneumonia, Eosinophilic ... |
OMIM:616433 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Impaired T cell function, Elevated circulating creatine kinase concentration, Splen... |
OMIM:614576 |
| Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Upper limb muscle hypoplasia, Sp... |
OMIM:607323 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death, Congenital pyloric atresia |
OMIM:612138 |
| Ethylene Glycol Poisoning |
|
Gastritis, Facial palsy, Ataxia, Abnormal pattern of respiration, Episodic respiratory distress, ... |
ORPHA:31826 |
| Myopathy, Centronuclear, 2 |
|
Waddling gait, Scapular winging, Facial palsy, Hyperlordosis, Respiratory insufficiency due to mu... |
OMIM:255200 |
| Gm1-Gangliosidosis, Type Ii |
|
Ataxia, Joint stiffness, Coxa valga, Thoracolumbar kyphosis, Spastic tetraplegia, Hypoplastic ver... |
OMIM:230600 |
| Adult-Onset Nemaline Myopathy |
|
Micrognathia, Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, My... |
ORPHA:171442 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Unsteady gait, Lumbar hyperlordosis, Difficulty walking |
OMIM:613818 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Anal fissure, Eczema, Abscess, Perianal abscess, Lymphadeni... |
OMIM:618935 |
| Immunodeficiency 48 |
|
Recurrent respiratory infections, Failure to thrive, Pneumonia, Absence of CD8-positive T cells, ... |
OMIM:269840 |
| Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... |
OMIM:301000 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Axial hypotonia, Apnea, Small for gestational age, Neutropenia, Bronchiectasis, Respiratory insuf... |
OMIM:618253 |
| Marinesco-Sjogren Syndrome |
|
Pes planus, Short metacarpal, Skeletal muscle atrophy, Ataxia, Coxa valga, Centrally nucleated sk... |
OMIM:248800 |
| 5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... |
ORPHA:2491 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Lower limb amyotrophy, Upper limb amyotrophy, Distal sensory impairment, Talipes equino... |
OMIM:617087 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the... |
OMIM:255800 |
| Senior-Loken Syndrome |
|
Cone-shaped epiphysis, Ataxia, Abnormality of bone mineral density |
ORPHA:3156 |
| Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:602484 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Joint laxity, Torticollis, Reduced muscle collagen VI, Facial palsy, Spinal rigidity, Distal join... |
OMIM:254090 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... |
OMIM:615559 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Decreased circulating antibody level, Leukopenia, Colitis, Bone marrow hypoc... |
OMIM:615190 |
| Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Liver abscess, Lung abscess, Abdominal pain, Dyspnea, Gastrointestinal dy... |
ORPHA:67 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Broad-based gait, Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B ce... |
OMIM:619705 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Hyperlordosis |
OMIM:607088 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Waddling gait, Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic r... |
ORPHA:157215 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Lower limb spasticity, Hyperlordosis, Steppage gait, Gait disturbance, Tongue fasciculations, Sco... |
OMIM:620285 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Waddling gait, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing... |
OMIM:608728 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Osteomalacia, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Joint ... |
ORPHA:1901 |
| Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Poor coordination, Cone-shaped epiphys... |
ORPHA:420794 |
| Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
| Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Decreased muscle mass, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Hip disl... |
OMIM:616507 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa... |
OMIM:618961 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Growth delay, Hematochezia, Folliculitis, Colitis, Pyoderma, Cro... |
OMIM:613148 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Impair... |
OMIM:308230 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Genu recurvatum, Fatty replacement of skeletal muscl... |
ORPHA:206549 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Abnormality of the vertebral ... |
OMIM:607634 |
| Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Rhizomelia, Micrognathia, Abnormality of the humerus, Preaxial hand poly... |
ORPHA:3098 |
| Wieacker-Wolff Syndrome |
|
Neonatal respiratory distress, Dystonia, Apnea, Facial palsy, Hyperlordosis, Short neck, Kyphosis... |
OMIM:314580 |
| Cleidocranial Dysplasia 2 |
|
Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Wide anterior font... |
OMIM:620099 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Inability to walk, Thoracic kyphosis, Fasciculations |
ORPHA:206546 |
| Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral ... |
OMIM:166220 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Nasogastric tube feeding in infancy, Upper airway obstruction, Cle... |
ORPHA:141152 |
| Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Abnormal lymphocyte proliferation, Abnormal lympho... |
ORPHA:99867 |
| Peeling Skin Syndrome 1 |
|
Brittle hair, Eosinophilia, Asthma, Increased circulating IgE level, Onycholysis, Nail dystrophy,... |
OMIM:270300 |
| Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
| Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
| Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Joint laxity, Ataxia, Hyperlordosi... |
OMIM:253010 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
| Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Ataxia, Joint stiffness, Impaired pain sensation, Kyphosis, Bone cyst, S... |
ORPHA:2047 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Limb-girdle muscle weak... |
ORPHA:86812 |
| Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Rhizomelia, Craniosynostosis, Micromelia, Micrognathia, Elbow ... |
ORPHA:93329 |
| Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... |
ORPHA:90650 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Ataxia |
OMIM:618970 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Chronic diarrhea... |
OMIM:301220 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Abnormal bone ossification, H... |
ORPHA:93315 |
| Sepsis In Premature Infants |
|
Increased circulating interleukin 6 concentration, Abnormal mucociliary clearance, Elevated circu... |
ORPHA:90051 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... |
OMIM:618848 |
| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Decreased muscle mass, Dysmetria, Hand tremor, Thoracic kyphosis, High palate, Self-mutilation, L... |
ORPHA:3041 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Loss ... |
OMIM:253700 |
| Familial Anetoderma |
|
Lumbar hyperlordosis |
ORPHA:228277 |
| Juvenile Primary Lateral Sclerosis |
|
Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait ... |
ORPHA:247604 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... |
OMIM:618138 |
| Osteogenesis Imperfecta, Type Xxi |
|
Pes planus, Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Platysp... |
OMIM:619131 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Osteoporosis, Myopathy, Scoliosis |
OMIM:618234 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia, Giant hypertrophic gastritis |
OMIM:137280 |
| Frank-Ter Haar Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Abnor... |
ORPHA:137834 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:2310 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Micrognathia, Wrist swelling, Limitation of joint mobility, Osteolysis, ... |
ORPHA:2774 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Ovoid vertebral bodies, Coxa valga, Micrognathia, Wide anterior f... |
ORPHA:163649 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Chro... |
OMIM:619858 |
| Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Crumpled long bones, Waddling gait, Metaphyseal widening, Osteoporosis,... |
ORPHA:2788 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Osteopenia, Pes planus, Skeletal muscle atrophy, Kyphoscoliosis, Myopathy, Joint hypermobility |
ORPHA:300179 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death, Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Abnormal intestine morphology, Hypoglycemia |
OMIM:606528 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Hyperlordosis, Microcytic anemia, In... |
OMIM:600462 |
| Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Pulmonar... |
ORPHA:3260 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... |
OMIM:618728 |
| Zimmermann-Laband Syndrome 3 |
|
Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Absent distal phalan... |
OMIM:618658 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Micrognathia, Kyphosis, Reduced bone mineral density, Vertebral segmentation defect, Hypertonia, ... |
ORPHA:2617 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hyperlordosis, Cent... |
OMIM:616852 |
| Spinocerebellar Ataxia 29 |
|
Broad-based gait, Truncal titubation, Hypotonia, Dysmetria, Gait ataxia, Impaired tandem gait, Li... |
OMIM:117360 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... |
OMIM:615513 |
| Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Hepatocellular carcinoma, Dyspnea, Wheezing, Chronic pulmonary obstruction, P... |
OMIM:613490 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyly, Scoliosis |
OMIM:126550 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis, Join... |
OMIM:618323 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Scapular winging, Pelvic girdle amyotrophy, Elevated circulating creatine kinase concentration, A... |
ORPHA:267 |
| Cranioectodermal Dysplasia 1 |
|
Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar creas... |
OMIM:218330 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Low back pain, Scapular winging, Proximal muscle weakness in upper limbs, Centrally nucleated ske... |
OMIM:619733 |
| Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis,... |
OMIM:607594 |
| Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, High, narrow palate, High palate, Loss of ambulation, Recurrent aspira... |
ORPHA:98897 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
| Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology |
ORPHA:234 |
| Graft Versus Host Disease |
|
Skeletal muscle atrophy, Myositis, Fasciitis, Gastrointestinal inflammation, Vomiting, Acute hepa... |
ORPHA:39812 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hyperlordosis, Tremor, Hypertonia, Gait disturbance, Anemia |
ORPHA:1192 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, ... |
OMIM:183900 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Thoracic kyphoscoliosis, Pancytopenia, Lumbar hyperlordosis, Failure to thrive in infancy, Recurr... |
OMIM:613385 |
| Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Back pain, Spastic ataxia, Somatic sensory dysfunction, Kyphoscoliosis, Rigidity, Abnormal pyrami... |
ORPHA:199354 |
| Shigellosis |
|
Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Conjunctivitis, Vomi... |
ORPHA:810 |
| Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Bifid femur, I... |
ORPHA:2769 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Flexion contracture, Gastroesophageal reflux, Muscle fiber atrophy, Aspiration, Hypoven... |
ORPHA:258 |
| Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Increased variability in muscle fiber diameter, Type 2 muscle fiber atrophy,... |
OMIM:160565 |
| Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Skeletal muscle atrophy, Increased bone mineral density, Arachnodactyly, Recur... |
OMIM:614856 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micrognathia, Micromeli... |
ORPHA:440354 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Pes planus, Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid ... |
OMIM:184250 |
| Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Elevated circulating C-reactive protein concentration, Abnormality of inf... |
ORPHA:449563 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair, Ataxia, Hyperlordosis, Aggressive behavior, Hypotonia, Feeding difficulties, Chronic ... |
OMIM:300986 |
| Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
| Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
| Tularemia |
|
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Le... |
ORPHA:3392 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| Sarcoidosis, Susceptibility To, 1 |
|
Generalized lymphadenopathy, Anorexia, Uveitis, Inflammation of the large intestine, Cough, Emphy... |
OMIM:181000 |
| Cronkhite-Canada Syndrome |
|
Anorexia, Hypoplastic toenails, Hamartomatous polyposis, Stomach cancer, Dystrophic fingernails, ... |
ORPHA:2930 |
| Spinal Muscular Atrophy, Type Iv |
|
Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Centrally nucleated skeletal m... |
OMIM:271150 |
| Pachydermoperiostosis |
|
Osteomyelitis, Cerebral palsy, Impaired temperature sensation, Limitation of joint mobility, Oste... |
ORPHA:2796 |
| Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... |
ORPHA:210110 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Proximal upper limb amyotr... |
OMIM:601954 |
| Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
| Mohr-Tranebjaerg Syndrome |
|
Tremor, Spasticity, Abnormal posturing, Dystonia |
OMIM:304700 |
| Mucolipidosis Type Iii |
|
Inguinal hernia, Acne, Hyperlordosis, Cleft palate, Abnormal form of the vertebral bodies |
ORPHA:577 |
| Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost... |
ORPHA:198 |
| Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
| Bloom Syndrome |
|
Poor appetite, Bronchitis, Adipose tissue loss, Paronychia, Uveitis, Gastroesophageal reflux, Oti... |
ORPHA:125 |
| Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske... |
OMIM:618129 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Eczema, Abdominal pa... |
OMIM:615895 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Dysphagia, Abnormal upper motor neuron m... |
OMIM:611637 |
| Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Abnormal foot morphology, Rickets, Increased susceptibility to... |
OMIM:146300 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati... |
ORPHA:324964 |
| Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Facial palsy, Abnormality of bone mineral density |
ORPHA:1114 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Flexion contracture, Dysmetria, Lower limb muscle weakness, Distal amyotrophy, Upper limb spastic... |
OMIM:275900 |
| Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Osteopenia, Bowing of the long bones, Microretrognathia, Rhizomelia, Recurrent... |
OMIM:616229 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing,... |
OMIM:620076 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Increased skull ossification, Metaphyseal w... |
OMIM:618476 |
| X-Linked Hypophosphatemia |
|
Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Bowing of the legs, Gen... |
ORPHA:89936 |
| Alpha-Mannosidosis |
|
Craniofacial hyperostosis, Bowing of the long bones, Short neck, Kyphosis, Arthritis, Hip dysplas... |
ORPHA:61 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Widow's peak, Hypotonia, Bronchiolitis, Periodontitis, Generalized hypot... |
OMIM:266265 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Cone-shaped epiphysis, Platyspondyly, Osteoporosis |
ORPHA:71267 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossific... |
OMIM:210710 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Congenital Myopathy 14 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... |
OMIM:618414 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Reduced bone mineral density, Genu valgum, Spina bifida occulta |
ORPHA:2983 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr... |
OMIM:218600 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Vertebral fusion, Lumbar hyperlordosis, Thoracic kyphoscoliosis... |
ORPHA:313892 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Scarring, Increased circulating IgE level, Atrophic scars, Nail dystrophy, Abnormal toenail morph... |
ORPHA:89843 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Short neck, Vocal cord paralysis, ... |
ORPHA:98863 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Osteopenia, Joint laxity, Arachnodactyly, Ataxia, Coxa valga, Elbow dislocation, Inability to wal... |
OMIM:620083 |
| Viss Syndrome |
|
Chronic gastritis, High, narrow palate, Increased circulating IgG level, High palate, Gastroesoph... |
OMIM:619472 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Increased circulating IgE level, Scoliosis, EEG abnormality |
ORPHA:1858 |
| Stüve-Wiedemann Syndrome |
|
Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Oste... |
ORPHA:3206 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Cryptorchidism, Tachypnea, Hypotonia, Feeding difficulties, Normochromic anemia,... |
OMIM:614857 |
| Reynolds Syndrome |
|
Skin rash, Abnormal gastric mucosa morphology, Xerostomia, Respiratory insufficiency, Arthritis, ... |
ORPHA:779 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Decreased circulating IgG3 level, Recurre... |
OMIM:619773 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Skeletal muscle atrophy, Rocker bottom foot, Micrognathia, Short neck, Kyphosis... |
OMIM:618393 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatars... |
OMIM:190351 |
| Autosomal Dominant Omodysplasia |
|
Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation, Short palm, Sho... |
ORPHA:93328 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-shaped long b... |
OMIM:151210 |
| Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Biconvex vertebral bodies, Aganglionic megacolon, Sacral dimple, M... |
ORPHA:175 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Lymphopenia, Pneumonia, Eosinophilia, Anorexia, Diarrhea, Recurrent pne... |
ORPHA:169160 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Vomitin... |
OMIM:619991 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Kyphosis, Distal upper lim... |
ORPHA:101075 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Central... |
OMIM:254110 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Short neck, Flexion contracture, Leukopenia, Hypoalbuminemia, Thoracic kyph... |
ORPHA:505248 |
| Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
| Hypochondroplasia |
|
Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hypoplasia of the e... |
OMIM:146000 |
| Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Hypertonia, Hyperlor... |
OMIM:226980 |
| Tibial Muscular Dystrophy |
|
Centrally nucleated skeletal muscle fibers, Peroneal muscle atrophy, Quadriceps muscle weakness, ... |
ORPHA:609 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Skeletal muscle atrophy, Short femur, Flexion contracture, Ragged-red muscle fiber... |
ORPHA:17 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... |
OMIM:613954 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Osteomalacia, Camptodactyly of finger, Recurrent fractures, Joint stiffness, Micromel... |
ORPHA:2176 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Failure to thrive, Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectas... |
OMIM:242860 |
| Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur m... |
ORPHA:1328 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Lumbar hyperlordosis, Difficulty walking, Spinal rigidity |
OMIM:609308 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
| Jansen-De Vries Syndrome |
|
Broad-based gait, Hyperlordosis, Central diaphragmatic hernia, Hypotonia, Feeding difficulties, C... |
OMIM:617450 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosi... |
OMIM:607155 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Short neck, Hip dislocation, Kn... |
OMIM:618395 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Flar... |
OMIM:602557 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Ataxia, EEG with burst suppression, Malnutrition, Spastic tetraplegia, Feeding difficulties, Gast... |
OMIM:619971 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
| Cartilage-Hair Hypoplasia |
|
Sparse facial hair, Neutropenia, Sparse hair, Lumbar hyperlordosis, Congenital hypoplastic anemia... |
OMIM:250250 |
| Primary Lateral Sclerosis, Juvenile |
|
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... |
OMIM:606353 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Joint hyperflexibility, Gait disturbance, Cubitus valgus, Congenital muscular dystrophy |
ORPHA:1875 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... |
OMIM:609945 |
| Igg4-Related Pachymeningitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung mo... |
ORPHA:449427 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Fractures of the long bones, General... |
OMIM:166600 |
| Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Vocal cord paralysis, Decreased ce... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Vocal cord paralysis, Decreased ce... |
ORPHA:98853 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of... |
ORPHA:239 |
| Geroderma Osteodysplastica |
|
Beaking of vertebral bodies, Pes planus, Recurrent fractures, Talipes, Hip dislocation, Osteoporo... |
ORPHA:2078 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated circulating creatine kinase concentration, Tremor, Chorea, Generalized hypotonia, Achala... |
OMIM:615356 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Sandal gap, Rhizomelia, Hypoplasia of the radius, Short ribs, Talipes... |
OMIM:607143 |
| Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures... |
OMIM:609220 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short... |
OMIM:611717 |
| Junctional Epidermolysis Bullosa Inversa |
|
Gastrointestinal inflammation, Atrophic scars, Nail dystrophy, Keloids, Enamel hypoplasia, Anonyc... |
ORPHA:79405 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, B... |
ORPHA:52368 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... |
ORPHA:2198 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Dyspnea, Myopathy, Shoulder gi... |
OMIM:615156 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Skeletal muscle atrophy, Myositis, Elevated circulating C-reactive protein concentration, Tachypn... |
OMIM:615934 |
| Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Hyperlordosis, Centrally nucleated skeleta... |
OMIM:160150 |
| Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
| Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
| Dysostosis, Stanescu Type |
|
Bowing of the long bones, Increased bone mineral density, Micromelia, Short neck, Hyperlordosis, ... |
ORPHA:1798 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... |
OMIM:271700 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Thoracolumbar scoliosis, ... |
OMIM:616723 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Oculomotor apraxia, Limitation of joint mobility, Congenital foot contractures, Distal ... |
ORPHA:3454 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Impaired vibratory sensation, Waddling gait, Somatic sensory dysfunction, Lower limb muscle weakn... |
OMIM:616924 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Anterior atlanto-occ... |
ORPHA:536467 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Diarrhea, Recurrent upper respiratory tract infections, Decreased circulating antibody... |
OMIM:614069 |
| Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... |
OMIM:300755 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
| Osteogenesis Imperfecta, Type Xii |
|
Hyperextensibility of the finger joints, Recurrent fractures, Bowing of the legs, Micrognathia, O... |
OMIM:613849 |
| Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis |
OMIM:610313 |
| Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Skeletal muscle atrophy, Limitation of joint mobility, Sacrococcygeal pilonidal abnormality, Hip ... |
ORPHA:2840 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Single transverse palmar crease, Micrognathia, Metaphyse... |
ORPHA:536471 |
| Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis, Hypoglycemia |
ORPHA:664 |
| Pycnodysostosis |
|
Increased bone mineral density, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Osteolyt... |
OMIM:265800 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Peroneal muscle weakness, Facial palsy, To... |
OMIM:181405 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Gastrointestinal inflammation, Atrophic scars, Nail dystrophy, Keloids, Enamel hypoplasia, Anonyc... |
ORPHA:79406 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... |
OMIM:617514 |
| Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Aplasia/hypopla... |
ORPHA:485 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Diarrhea, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocyt... |
OMIM:601457 |
| Anauxetic Dysplasia 2 |
|
Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Hyperlordosis, Short neck, Posterior wedgin... |
OMIM:617396 |
| Alexander Disease |
|
Clonus, Short neck, Tremor, Chorea, Abnormal pyramidal sign, High palate, Infectious encephalitis... |
ORPHA:58 |
| Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Decreased muscle mass, Broad-based gait, Long palm, Recu... |
OMIM:309583 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Wa... |
ORPHA:98855 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Waddling gait, Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthr... |
OMIM:602111 |
| Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Protrusio acetabuli, Recurrent fractures, Kyphoscoliosis, Coxa vara, In... |
OMIM:610968 |
| Congenital Myopathy 3 With Rigid Spine |
|
Facial palsy, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Flexion contracture, I... |
OMIM:602771 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
| Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
| Vici Syndrome |
|
Elevated circulating creatine kinase concentration, Albinism, Leukopenia, T lymphocytopenia, Abno... |
OMIM:242840 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
| Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Atrophic scars, Increased circulating ant... |
ORPHA:48104 |
| Pelizaeus-Merzbacher Disease, Classic Form |
|
Axial hypotonia, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Hypotonia, Dystonic gait,... |
ORPHA:280219 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi... |
OMIM:619220 |
| Dysspondyloenchondromatosis |
|
Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, Generalized joint laxity, Abnormal fibula m... |
ORPHA:85198 |
| Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Coronal clef... |
OMIM:256050 |
| Immunodeficiency 35 |
|
Recurrent respiratory infections, Increased circulating IgE level |
OMIM:611521 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2W |
|
Somatic sensory dysfunction, Hand muscle weakness, Impaired pain sensation, Abnormal foot morphol... |
ORPHA:488333 |
| Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Recurre... |
ORPHA:33110 |
| Cdkl5-Deficiency Disorder |
|
Hallux valgus, Broad proximal phalanges of the hand, Impaired pain sensation, Kyphosis, Gait dist... |
ORPHA:505652 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... |
OMIM:166260 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Knee osteoarthritis, Osteoporosis,... |
ORPHA:2848 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, S... |
OMIM:258450 |
| Achondroplasia |
|
Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal pha... |
ORPHA:15 |
| Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
| Fanconi Renotubular Syndrome 3 |
|
Rickets, Bowing of the legs |
OMIM:615605 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... |
ORPHA:206594 |
| Sandifer Syndrome |
|
Torticollis, Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagit... |
ORPHA:71272 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Kyphosis, Limited elbow extension, Small hand, Short metatarsal, Sh... |
OMIM:180870 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... |
OMIM:603689 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Spasticity, Lumbar hyperlordosis, Thoracic kyphosis, Hypotonia |
OMIM:619467 |
| Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Bronchitis, Chore... |
ORPHA:1304 |
| Nail-Patella Syndrome |
|
Back pain, Decreased muscle mass, Impaired temperature sensation, Abnormal tibia morphology, Flex... |
ORPHA:2614 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Abnormality of the lower limb, Rickets, Osteomalacia |
OMIM:193100 |
| Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Interphalangeal joint contracture of finger, Widow's peak, Atopic dermatitis, Knee flexion contra... |
OMIM:606242 |
| Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Abnormality of the subungual region, Gastrointestinal inflammation, Atrophic scars, Nail dystroph... |
ORPHA:79411 |
| Immunodeficiency 92 |
|
Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased proportion of cl... |
OMIM:619652 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Micromelia, Short neck, Wide distal femoral metaphysis, Delayed epiphyseal... |
OMIM:613320 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Scoliosis, Increased ... |
OMIM:613204 |
| Pseudopseudohypoparathyroidism |
|
Short metacarpal, Short neck, Short metatarsal, Osteoporosis, Brachydactyly |
OMIM:612463 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Acute pancreatitis, Scapular winging, Elevated circulating creatine kina... |
ORPHA:26791 |
| Desbuquois Dysplasia 2 |
|
Single transverse palmar crease, Short neck, Metaphyseal widening, Knee dislocation, Short phalan... |
OMIM:615777 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Single transverse palmar crease, Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryp... |
ORPHA:178148 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... |
OMIM:300853 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, High p... |
ORPHA:98905 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Congenital diaphragmatic hernia, Micrognathia, Short neck, Wide ante... |
OMIM:263210 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Ataxia, Impaired pain sensation, Kyphosis, Split hand, Unsteady gait, Distal sensory impairment, ... |
OMIM:618124 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis |
OMIM:300434 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormal eyelash morphology, EEG abnormality, Periodontitis, Sparse body hair,... |
ORPHA:1008 |
| Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Failure to thrive, Hypotonia, Aspiration pneumonia |
OMIM:609528 |
| Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D... |
ORPHA:449395 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Ataxia, Kyphosis, Hip dysplasia, Tongue fasciculations, Facial myokymia |
OMIM:620007 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Osteomalacia, Bowing of the legs |
ORPHA:89937 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Kinetic tremor, Kyphoscoliosis, Hyperlordosis, Increased vertebral height, Gait ataxia, Truncal a... |
OMIM:616817 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Genu recurvatum, Short neck, Flexion contracture, Tibial bowing, Knee disl... |
OMIM:143095 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni... |
OMIM:205100 |
| King-Denborough Syndrome |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Short n... |
OMIM:619542 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Waddling gait, Micrognathia, Metaphyseal c... |
OMIM:156400 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Bronchi... |
ORPHA:391487 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Decreased muscle mass, Micrognathia, Metaphyseal widening, Abnormal form of the vertebral bodies,... |
ORPHA:73230 |
| Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Alopecia, Dysgammaglobulinemia, Malabsorption, Abdominal pai... |
ORPHA:100025 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Joint hyperflexibility, Lower... |
OMIM:614898 |
| Microlissencephaly |
|
Hypertonia, Pneumonia |
ORPHA:1083 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Lower limb muscle weakness, Kyphosis, Babins... |
OMIM:614409 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura... |
OMIM:600802 |
| Braddock-Carey Syndrome 1 |
|
Curly hair, Hyperlordosis, Hypotonia, Cleft palate, Spastic diplegia, Anteriorly placed anus, Cam... |
OMIM:619980 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Recur... |
OMIM:617718 |
| Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Spinal rigidity, Joint stiffness, Abnormal muscle fiber ... |
ORPHA:598 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl... |
ORPHA:544482 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Waddling gait, Lumbar hyperlordosis |
ORPHA:156728 |
| Catel-Manzke Syndrome |
|
Joint laxity, Short humerus, Short metacarpal, Short femur, Single transverse palmar crease, Micr... |
OMIM:616145 |
| Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Calf ... |
OMIM:611705 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification, Flexion co... |
OMIM:616007 |
| Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Splenomegaly, F... |
ORPHA:2137 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... |
ORPHA:3243 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Joint laxity, Multiple joint contractures, Spinal rigidity, Centrally nucleated skeletal muscle f... |
ORPHA:486815 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
| Ck Syndrome |
|
Hyperactivity, Lumbar hyperlordosis, Kyphoscoliosis, Aggressive behavior, High palate, Generalize... |
ORPHA:251383 |
| Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Scoliosis, Short femur, Foot oligodactyly, Amelia |
OMIM:601357 |
| Myotonia Permanens |
|
Hyperlordosis, Dyspnea, Asthma, Generalized muscle hypertrophy, Skeletal muscle hypertrophy, Hype... |
ORPHA:99735 |
| Axial Osteomalacia |
|
Myopathy, Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati... |
ORPHA:276 |
| Linear Iga Dermatosis |
|
Inflammation of the large intestine, Epistaxis |
ORPHA:46488 |
| Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Short neck, Neutropenia, Lumbar hyperlordosis, Minimal change glomerulo... |
ORPHA:1830 |
| Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c... |
ORPHA:69126 |
| Omodysplasia 1 |
|
Short humerus, Increased fibular diameter, Rhizomelia, Micrognathia, Limited knee flexion, Short ... |
OMIM:258315 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Limitation of join... |
OMIM:313400 |
| Fg Syndrome 3 |
|
Hyperactivity, Cryptorchidism, Pyloric stenosis, Hypotonia, Fine hair, Feeding difficulties, Chro... |
OMIM:300406 |
| Cerebrocostomandibular Syndrome |
|
11 pairs of ribs, Short humerus, 10 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyse... |
OMIM:117650 |
| Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... |
OMIM:618654 |
| Autosomal Recessive Centronuclear Myopathy |
|
Waddling gait, Hip contracture, Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleate... |
ORPHA:169186 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Small for gestational age, Axial hypotonia, Hyperactivity... |
OMIM:617796 |
| Rothmund-Thomson Syndrome |
|
Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Plantar hyperkeratosis, ... |
ORPHA:2909 |
| Cohen Syndrome |
|
Thoracic scoliosis, Lumbar hyperlordosis, Small for gestational age, Decreased response to growth... |
OMIM:216550 |
| Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Ataxia, Kyphosis, Slurred speech, Flared iliac wing, Platyspondyly, Ante... |
OMIM:230650 |
| Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia,... |
ORPHA:1652 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Hand polydactyly, Abnor... |
OMIM:314390 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Arachnodactyly, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Gait disturbance, Scolios... |
ORPHA:2181 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Sco... |
ORPHA:101078 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Short neck, Synophrys, Flexion contracture, Low anterior hairline, Leukopen... |
OMIM:617303 |
| Anauxetic Dysplasia 1 |
|
Short neck, Thoracic kyphosis, Short palm, Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short ... |
OMIM:607095 |
| Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Plantar hyperkeratosis, Calcin... |
ORPHA:221016 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Impaired vibratory sensation, Clonus, Kyphosis, Impaired proprioception, Joint hyperflexibility, ... |
ORPHA:319199 |
| Juvenile Paget Disease |
|
Bowing of the long bones, Recurrent fractures, Cranial hyperostosis, Osteoporosis, Coarse metaphy... |
ORPHA:2801 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra... |
ORPHA:411696 |
| Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Down-sloping shoulders, Recurrent fractures, Tapered finger, Abnormal thumb... |
ORPHA:1452 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Sparse scalp hair, Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large inte... |
OMIM:620133 |
| Schimke Immunoosseous Dysplasia |
|
Short neck, Bilateral cryptorchidism, Abnormal T cell morphology, Coarse hair, Thoracic kyphosis,... |
OMIM:242900 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Hyperlordosis, Chorea, Difficulty walking, Truncal ataxia, Infantile muscular hypo... |
ORPHA:369840 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... |
OMIM:271640 |
| Hypochondroplasia |
|
Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:429 |
| Crane-Heise Syndrome |
|
Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Aplastic ... |
ORPHA:1512 |
| Contractural Arachnodactyly, Congenital |
|
Osteopenia, Micrognathia, Short neck, Knee flexion contracture, Wrist flexion contracture, Arachn... |
OMIM:121050 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Encopresis, Synophrys, Inability to wal... |
OMIM:618443 |
| Japanese Encephalitis |
|
Respiratory distress, Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Anorexi... |
ORPHA:79139 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Joint laxity, Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, ... |
OMIM:255320 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Skeletal muscle atrophy, Knee flexion contracture, Inflammatory myopathy, H... |
ORPHA:1145 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz... |
OMIM:618019 |
| Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Spinal rigidity, Centrally nucleated skeletal... |
OMIM:617072 |
| Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Ataxia, Tapered finger, Micrognathia, Kyphosis, Joint hyperflexibility, Scoliosis, Me... |
ORPHA:2479 |
| Mulchandani-Bhoj-Conlin Syndrome |
|
Scoliosis, Generalized hypotonia, Hyperlordosis |
OMIM:617352 |
| Pycnodysostosis |
|
Micrognathia, Generalized osteosclerosis, Hypoplastic iliac wing, Joint laxity, Increased bone mi... |
ORPHA:763 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Myoclonus, Ataxia, Rickets |
OMIM:560000 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Na... |
OMIM:618806 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Metaphyseal widening, Coxa... |
OMIM:608940 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Arachnodactyly, Joint stiffness, Kyphosis, Scoliosis, Bilateral single transverse palmar creases |
ORPHA:1548 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Hypopla... |
OMIM:615349 |
| Immunodeficiency 32B |
|
Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytope... |
OMIM:226990 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Chorea, Self-biting, Choreoathetosis, Gastroesophageal reflux, Vomiting, Abnormal repetitive mann... |
ORPHA:522077 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Impaired proprioception, Dysmetria,... |
ORPHA:99027 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Lumbar hyperlordosis, Rigidity, Falls, Difficulty walking |
ORPHA:3198 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... |
OMIM:615424 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Frequent falls, Hypotonia, Hyperlordosis |
OMIM:611588 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Poor appetite, Nasogastric tube feeding in infancy, Flexion contracture, Knee flexion contracture... |
ORPHA:2020 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
| Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Small for gestational age, Rigidity, Optic atrophy, Respiratory fa... |
OMIM:619057 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Craniosynostosis, Abnormal muscle fiber m... |
OMIM:175700 |
| Atypical Rett Syndrome |
|
Involuntary movements, Impaired pain sensation, Tremor, Kyphosis, Inability to walk, Small hand, ... |
ORPHA:3095 |
| Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract... |
OMIM:231070 |
| Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
| Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Micrognathia, Bi... |
OMIM:609465 |
| Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Brittle hair, Small for gestational age, Trichoschisis, Malabsorption, As... |
OMIM:601675 |
| Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
| Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Broad-based gait, Axial hypotonia, Small for gestational age, Eczema, Elevated circulating creati... |
OMIM:611091 |
| Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Plantar hyperkeratosis, Calcin... |
ORPHA:221008 |
| Griscelli Syndrome |
|
Abnormal eyebrow morphology, Ataxia, Abnormality of neutrophils, Abnormal eyelash morphology, Pyl... |
ORPHA:381 |
| Lopes-Maciel-Rodan Syndrome |
|
Tremor, Kyphosis, Unsteady gait, Small hand, Abnormal pyramidal sign, Short foot, Ankle clonus, B... |
OMIM:617435 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Celiac disease, Desquamative in... |
OMIM:615952 |
| Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe... |
OMIM:619473 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaph... |
OMIM:300232 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i... |
OMIM:269250 |
| Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Facial palsy, Aplastic clavicle, Abnormal meta... |
ORPHA:2658 |
| Avian Influenza |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... |
ORPHA:454836 |
| Whim Syndrome |
|
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... |
ORPHA:51636 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced rhabdomyolysis, Necrotizing enterocolitis, Elevated circulating creatine kinase ... |
OMIM:201475 |
| Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Recurrent infections due to aspiration, Qua... |
ORPHA:70 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Waddling gait, Congenital hip dislocation, Left ventricular hypertrophy, Limited e... |
OMIM:300280 |
| Oculodentodigital Dysplasia |
|
Micrognathia, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Finger synda... |
ORPHA:2710 |
| Rhyns Syndrome |
|
Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly |
OMIM:602152 |
| Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, P... |
OMIM:301082 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... |
ORPHA:397946 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Involuntary movements, Intestinal malrotation, Gastrointestinal dysmotility, Unstead... |
OMIM:617798 |
| Postinfectious Vasculitis |
|
Elevated circulating C-reactive protein concentration, Anorexia, Gastrointestinal inflammation, U... |
ORPHA:48435 |
| Ulnar-Mammary Syndrome |
|
Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ... |
OMIM:181450 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Shortenin... |
OMIM:301900 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
| Fountain Syndrome |
|
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Abnormal ... |
ORPHA:3219 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated c... |
OMIM:308240 |
| Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Increased susceptibility to fractures, Reduced bone m... |
ORPHA:561 |
| Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Central hypoventilation, Abnormal muscle ... |
ORPHA:171881 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Impaired T cell function, Pure red cell aplasia, Tremor, Otitis media, Generalized hyp... |
OMIM:613179 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Athetosis, Hyperglycemia, Glycosuria |
OMIM:618857 |
| Frank-Ter Haar Syndrome |
|
Short palm, Osteopenia, Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kypho... |
OMIM:249420 |
| Cocaine Intoxication |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Intestinal perforation,... |
ORPHA:90068 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Optic disc pallor, Apnea, Episodic tachypnea, Parkinsonism, Poor moto... |
ORPHA:79264 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Tyrosinemia Type 1 |
|
Rickets of the lower limbs |
ORPHA:882 |
| Cleidocranial Dysplasia 1 |
|
Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, Coxa vara, Hypoplas... |
OMIM:119600 |
| Osteopenia And Sparse Hair |
|
Sparse hair, Hypotonia |
OMIM:259690 |
| Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Genu recurvatum, Reduced bone mineral density, Slender long bone, Joint hyperflexibility, Cubitus... |
ORPHA:1185 |
| Mucolipidosis Iii Gamma |
|
Abnormality of the hand, Joint stiffness, Flat capital femoral epiphysis, Short neck, Hyperlordos... |
OMIM:252605 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Sacral dimple, Congenital hip dislocation, Femur fracture, Multiple join... |
OMIM:618291 |
| Cole-Carpenter Syndrome 2 |
|
Osteopenia, Microretrognathia, Recurrent fractures, Kyphosis, Platyspondyly, Lambdoidal craniosyn... |
OMIM:616294 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... |
ORPHA:2722 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired temperature sen... |
DECIPHER:29 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Aspiration pneumonia,... |
OMIM:619477 |
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Osteopenia, Recurrent shoulder dislocation, Down-sloping shoulders, Short clavicles, Finger joint... |
OMIM:212112 |
| Autosomal Recessive Spastic Paraplegia Type 75 |
|
Impaired vibratory sensation, Spastic paraplegia, Babinski sign, Abnormal pyramidal sign, Dysmetr... |
ORPHA:459056 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short neck, Abnormal sacrum morphology, Vertebral segmentation defect, Scoliosis, ... |
ORPHA:1797 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Waddling gait, Unsteady gait, Myopathy, Limb-girdle muscular dystrophy, Increased variability in ... |
OMIM:612937 |
| Chst3-Related Skeletal Dysplasia |
|
Waddling gait, Short metacarpal, Rhizomelia, Kyphoscoliosis, Flexion contracture, Abnormality of ... |
ORPHA:263463 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus deformity, Shor... |
OMIM:224400 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Paraplegia, Hepatosplenomegaly, Pulmona... |
ORPHA:79124 |
| Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Chronic gastritis, Bilateral cryptorchidism, Gastroesophageal reflux, Vomiting, Sparse hair, Scap... |
OMIM:150230 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Tremor, Hypoplastic vertebral bodies, Hypertonia, Long toe, Ataxia, 2-3 toe syndactyl... |
ORPHA:3455 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Hyperlordosis, Feeding difficulties in infancy, Cryptorchidism, Furrowed tongue, Low posterior ha... |
ORPHA:1387 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c... |
ORPHA:268 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Pes planus, Distal lower limb amyotrophy, Sandal gap, Tremor, Kyphosis, Small hand,... |
OMIM:300354 |
| Acromicric Dysplasia |
|
Short metacarpal, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot, Short long bone, Sho... |
OMIM:102370 |
| Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contr... |
ORPHA:666 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Abnorm... |
ORPHA:2636 |
| Thoracomelic Dysplasia |
|
Hyperlordosis, Gait disturbance, Short neck |
ORPHA:1803 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v... |
OMIM:184100 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Umbilical hernia, Hypertonia, Pneumonia |
OMIM:254120 |
| Schaaf-Yang Syndrome |
|
Rocker bottom foot, Tapered finger, Kyphosis, Inability to walk, Flexion contracture, Small hand,... |
OMIM:615547 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Feeding difficulties in... |
ORPHA:365 |
| Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... |
ORPHA:555905 |
| Tick-Borne Encephalitis |
|
Back pain, Skeletal muscle atrophy, Elevated circulating C-reactive protein concentration, Anorex... |
ORPHA:297 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Feeding difficulties, S... |
OMIM:615761 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Kyphoscoliosis, Postaxial hand p... |
ORPHA:65759 |
| Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Failure to thrive, Brittle hair, Increased circulating IgA level, Bilateral cryptorc... |
OMIM:616395 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Waddling gait, Lumbar hyperlordosis |
OMIM:165800 |
| Hereditary Hyperekplexia |
|
Ataxia, Joint stiffness, Rigidity, Hiatus hernia, Hip dislocation, Hypertonia, Gastroesophageal r... |
ORPHA:3197 |
| Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short stature, Short femur, Mesoaxial hand polyd... |
OMIM:277170 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, Hyperlordosis, High, na... |
OMIM:162300 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Lumbar int... |
OMIM:271510 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Cerebral palsy, Decreased palmar creases, Micrognathia, Abnormal foot morphology, Kyphosis, Narro... |
ORPHA:352490 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Epistaxis, Albinism, Abdominal pain, Hematochezia, Restrictive ventilat... |
OMIM:203300 |
| Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Anorexia, Thrombocytopenia, Splenomegaly, Weight lo... |
ORPHA:507 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... |
ORPHA:486 |
| Acrocapitofemoral Dysplasia |
|
Ovoid vertebral bodies, Scoliosis, Hyperlordosis |
ORPHA:63446 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Asthma, Atopic dermatitis, Hepatosplenomegaly, Mem... |
OMIM:618999 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... |
OMIM:620282 |
| Muscular Dystrophy, Duchenne Type |
|
Waddling gait, Hypoventilation, Calf muscle pseudohypertrophy, Elevated circulating creatine kina... |
OMIM:310200 |
| Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Recurrent respiratory infections, Hyperactivity, Small for gestational age, Sp... |
OMIM:234100 |
| Mucopolysaccharidosis Type 3 |
|
Adenoiditis, Synophrys, Flexion contracture, Abnormal pyramidal sign, Abnormal form of the verteb... |
ORPHA:581 |
| Common Variable Immunodeficiency |
|
Hemolytic anemia, Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Recu... |
ORPHA:1572 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Somatic sensory dysfunction, Micrognathia, Tremor, Generalized joint laxity, Increased variabilit... |
ORPHA:502423 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
| Greenberg Dysplasia |
|
Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ... |
OMIM:215140 |
| Trichinellosis |
|
Skin rash, Facial palsy, Increased circulating IgE level, Babinski sign, Hemiparesis, Conjunctivi... |
ORPHA:863 |
| Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Increased circulating IgG4 level, Eosinophilia, Prostatitis, Increased circulating I... |
ORPHA:449432 |
| Trichorhinophalangeal Syndrome, Type I |
|
Recurrent respiratory infections, Scapular winging, Slow-growing hair, Thin nail, Hyperlordosis, ... |
OMIM:190350 |
| Czech Dysplasia |
|
Narrow femoral neck, Waddling gait, Short metacarpal, Flat capital femoral epiphysis, Short toe, ... |
OMIM:609162 |
| Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Micrognathia, Short neck, Tibial bowing, Femoral bowing, Knee fl... |
OMIM:601559 |
| Shashi-Pena Syndrome |
|
Short metacarpal, Kyphosis, Osteoporosis, Deep palmar crease, Scoliosis, Cervical C2/C3 vertebral... |
OMIM:617190 |
| Prolidase Deficiency |
|
Eczema, Thrombocytopenia, Asthma, Recurrent pneumonia, Crusting erythematous dermatitis, Splenome... |
OMIM:170100 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Esophageal stricture, Gastrointestinal inflammation, Atrophic scars, Nail dystrophy, Enamel hypop... |
ORPHA:79409 |
| Immunodeficiency 22 |
|
Pericarditis, Failure to thrive, Abscess, Thrombocytopenia, Diarrhea, Recurrent upper respiratory... |
OMIM:615758 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Abnormality of the musculature of the lower limbs, Ataxia, ... |
ORPHA:464282 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Waddling gait, Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Increased var... |
ORPHA:1878 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Hyperlordosis, Abnormal muscle fiber morphology, Tracheoes... |
ORPHA:3068 |
| Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent pneumonia, Br... |
OMIM:240500 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Genu recurvatum, Single transverse palmar crease, Micrognathia, Flexion contracture, ... |
OMIM:130070 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Congenital bilateral hip dislocation, Kyphosis, Talipes equinovarus |
ORPHA:85288 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgG level, Iron deficiency anemia, Increased B cell count, Decreased lympho... |
OMIM:603909 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Brachydactyly |
OMIM:619479 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Facial palsy, Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter... |
OMIM:616470 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk... |
OMIM:609270 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased... |
OMIM:618986 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Abnormal fingernail morphology, Gastrointestinal inflammation, Atypical scarring of skin, Atrophi... |
ORPHA:79410 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Hypoplastic ischia, Bowing of the legs, Micrognathia, Abnormality of the lower limb, ... |
ORPHA:313855 |
| Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, T... |
OMIM:264180 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Failure to thrive, Lymphocytic int... |
OMIM:618495 |
| Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Elevated circulating creat... |
OMIM:606070 |
| Mevalonic Aciduria |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
OMIM:610377 |
| Distal Deletion 10Q |
|
Failure to thrive, Lumbar hyperlordosis, Scapular winging, Clonus, Ataxia, Aggressive behavior, H... |
ORPHA:96148 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Ataxia, Bowel incontinence, Truncal titubation, Kyphosis, Gastrointestinal dysmoti... |
ORPHA:88628 |
| Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Appendicular spasticity, Axial hypotonia, Cerebral palsy, Flexion contracture, High palate, Inter... |
OMIM:620001 |
| Ruijs-Aalfs Syndrome |
|
Pes planus, Thoracic kyphoscoliosis, Skeletal muscle atrophy, Down-sloping shoulders, Single tran... |
OMIM:616200 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentrat... |
ORPHA:36238 |
| Arthrogryposis, Distal, Type 5 |
|
Decreased muscle mass, Arachnodactyly, Decreased palmar creases, Limited wrist extension, Kyphosi... |
OMIM:108145 |
| Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Sinusitis, Aplasia of the thymus, Pneumonia, Decreased proportion of naive T c... |
ORPHA:83471 |
| Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Axial hypotonia, Dystonia, Ataxia, Spastic tetraparesis, Impulsivity, Flexion cont... |
ORPHA:35069 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis |
OMIM:612301 |
| Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Recurrent upper respiratory tract infections, Hypoto... |
ORPHA:284180 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Elevated circulating C-reactive protein concentration, Short neck, Microcytic anemia, Asthma, Rec... |
OMIM:619750 |
| Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
| Fg Syndrome Type 1 |
|
Gastroesophageal reflux, High palate, Compulsive behaviors, Malrotation of colon, Cryptorchidism,... |
ORPHA:93932 |
| Atelis Syndrome 1 |
|
Eczema, Decreased lymphocyte proliferation in response to anti-CD3, Thrombocytopenia, Bronchiecta... |
OMIM:620184 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Hip contracture, Radial deviation of the hand, Rocker bottom foot, Facial pals... |
OMIM:301041 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... |
OMIM:200600 |
| Tay-Sachs Disease |
|
Skeletal muscle atrophy, Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigi... |
ORPHA:845 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Broad-based gait, Brittle hair, Slow-growing hair, Optic nerve hypoplasia, Sparse eyebrow, Chroni... |
OMIM:300953 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Short neck, High, narrow palate, Low anterior hairline, Gastroesophageal reflux, Self-mutilation,... |
OMIM:619950 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Rhizomelia, Single transverse palmar crease, Broad femoral neck, ... |
OMIM:611209 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Cerebral palsy, Decreased palmar creases, Micrognathia, Kyphosis, Hypertonia, Scoliosis, Clinodac... |
OMIM:615834 |
| Clark-Baraitser syndrome |
|
Joint laxity, Genu recurvatum, Tapered finger, Kyphosis, Broad palm, Genu valgum, Scoliosis, Shor... |
OMIM:300602 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia |
OMIM:618858 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Genu valgum |
OMIM:614880 |
| Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of... |
OMIM:200610 |
| Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Scoliosis, Short long bone, Camptodactyly |
OMIM:619751 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Micrognathia, Kyphosis, Osteoporosis, Scoliosis, Joint contracture |
OMIM:615381 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Involuntary movements, Increased variability in muscle fiber diameter, T... |
ORPHA:238329 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Short neck, Spastic paraplegia, Flexion contracture, Scoliosis, Increased variability in muscle f... |
OMIM:619026 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Generalized amyo... |
ORPHA:171 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Tremor, Abnormal pyramidal sign, Premature graying of hair, Intestinal bleeding, Sparse hair, Ata... |
OMIM:612199 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
| Myofibrillar Myopathy 10 |
|
Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contract... |
OMIM:619040 |
| Holt-Oram Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Joint stiffn... |
ORPHA:392 |
| Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Bowing of the long bones, Increased bone mineral density, Rhizomelia, Aplastic ... |
ORPHA:50945 |
| Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
| Arthrogryposis Multiplex Congenita 6 |
|
Akinesia, Increased variability in muscle fiber diameter, Arthrogryposis multiplex congenita, Nem... |
OMIM:619334 |
| Nicolaides-Baraitser Syndrome |
|
Alopecia, Eczema, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, High, narrow pal... |
ORPHA:3051 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Skeletal muscle hypertrophy, Gait... |
ORPHA:99014 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Babinski sign, Spastic diplegia, Myoclonus, Increased intramyocellular lipid droplets, In... |
OMIM:619065 |
| Williams Syndrome |
|
Elevated circulating creatine kinase concentration, Hypoplastic toenails, Tremor, Rectal prolapse... |
ORPHA:904 |
| Oliver-Mcfarlane Syndrome |
|
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Long ... |
OMIM:275400 |
| Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, P... |
ORPHA:192 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Large tarsal bones, Micrognathia, Flexion contracture... |
OMIM:215150 |
| Spondyloocular Syndrome |
|
Long toe, Osteopenia, Pes planus, Overlapping toe, Arachnodactyly, Femur fracture, Long fingers, ... |
OMIM:605822 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Small for gestational age, Ataxia, Inability to walk, Flexion cont... |
ORPHA:79243 |
| Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
| Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Micrognathia, Hypoplastic pubic bone, Decreased calvarial ossification, Short cla... |
OMIM:614592 |
| Van Maldergem Syndrome 1 |
|
Osteopenia, Joint laxity, Short fourth metatarsal, Sacral dimple, Micrognathia, Wide anterior fon... |
OMIM:601390 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha... |
OMIM:250220 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Hypertonia, Bacterial endocarditis, Papilledema, Paralysis, Hepatosple... |
ORPHA:2072 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies, Highly arched eyebrow, Feeding dif... |
OMIM:619451 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... |
ORPHA:2911 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Alopecia, Esophageal varix, Aplastic/hypoplastic toenail, Hemiparesi... |
ORPHA:974 |
| Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Apnea, Elevated circulating creatine kinase concentration, Short neck, F... |
ORPHA:800 |
| Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Colonic diverticula, Impaired vibratory sensation, Intestinal pseudo-obstruction, Aganglionic meg... |
OMIM:243180 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C... |
OMIM:618048 |
| Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia, Periodic paralysis |
OMIM:267200 |
| Cystinosis |
|
Myopathy, Rickets, Abnormal pyramidal sign, Gait disturbance |
ORPHA:213 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
| Osteogenesis Imperfecta, Type I |
|
Osteopenia, Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Femoral bowing, Inc... |
OMIM:166200 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Chronic diarrhea, Anemia, Leukopenia, Increased circu... |
OMIM:615285 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Centrally nucleated skeletal muscle fibers, Chorea... |
ORPHA:401768 |
| Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Abnormal neutrophil... |
ORPHA:723 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Unsteady gait, Type II diabetes mellitus |
OMIM:520000 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Lumbar hyperlordosis |
OMIM:613723 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:618167 |
| Esophageal Atresia |
|
Respiratory distress, Bronchitis, Feeding difficulties in infancy, Gastrointestinal dysmotility, ... |
ORPHA:1199 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
| Neu-Laxova Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Osteomalacia, Micromelia, Micrognathia, Flexion contracture,... |
ORPHA:2671 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Spastic tetraplegia, Kyphosis, Flexion contracture, Myopathy |
OMIM:618237 |
| Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Short neck, Anteriorly placed anus, Sparse hair, Lumbar hyperlordosi... |
OMIM:305450 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocyte morphology |
ORPHA:2522 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Kyphosis, Inability to walk, Flexion contracture, Babinski sign, Sp... |
OMIM:609541 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea,... |
ORPHA:90038 |
| Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Central apnea, Ataxia, Malabsorption, Feeding difficulties in infanc... |
ORPHA:3463 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
| Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine... |
ORPHA:906 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets |
OMIM:602722 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
| Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Spinal canal stenosis, Broad palm, Scoli... |
OMIM:277600 |
| Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
| Oculopharyngodistal Myopathy 2 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... |
OMIM:618940 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys... |
ORPHA:93316 |
| Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive cough, Xerostom... |
ORPHA:85443 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Osteoporosis, In... |
OMIM:259770 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Spinal cord compression, Abnormal lymph node morphology, C... |
ORPHA:319487 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Lumbar hyperlordosis, Rigidity, Opisthotonus, Myoclonic spasms, Fre... |
OMIM:184850 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Dystonia, Elevated circulating creatine kinase concent... |
OMIM:606002 |
| Mccune-Albright Syndrome |
|
Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Abnormal femur morphology, Pol... |
ORPHA:562 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Short neck, Flexion c... |
OMIM:265000 |
| Trisomy 20P |
|
Finger syndactyly, Incoordination, Camptodactyly of finger, Talipes, Micrognathia, Short neck, Pr... |
ORPHA:261318 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Muscular dystrophy, Loss of ambulation, Increased variability in muscle ... |
OMIM:253601 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
| Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Stiff neck, Torticollis, Micrognathia, Short neck, Increased variability in m... |
OMIM:617022 |
| Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Recurrent upper respiratory ... |
OMIM:618459 |
| Ataxia-Telangiectasia |
|
Sinusitis, Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Decreased circul... |
OMIM:208900 |
| Fucosidosis |
|
Anterior beaking of thoracic vertebrae, Vacuolated lymphocytes, Flexion contracture, Anterior bea... |
OMIM:230000 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Hypoplasia of the mus... |
ORPHA:2463 |
| 3M Syndrome |
|
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Microme... |
ORPHA:2616 |
| Congenital Short Bowel Syndrome |
|
Intestinal hypoplasia, Sparse hair, Lipoatrophy, Intestinal malrotation |
ORPHA:2301 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal fibula ... |
ORPHA:1836 |
| Marshall-Smith Syndrome |
|
Thoracic scoliosis, Brittle hair, Apnea, Bilateral cryptorchidism, Synophrys, Anteriorly placed a... |
OMIM:602535 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Paget di... |
OMIM:615422 |
| Scedosporiosis |
|
Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Osteomyelitis, Bronchial breath sound, ... |
ORPHA:449280 |
| Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... |
ORPHA:319218 |
| Intellectual Disability And Myopathy Syndrome |
|
Lumbar hyperlordosis, Hypotonia, Scoliosis |
OMIM:619719 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
| Immunodeficiency 12 |
|
Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Abnormal lymphocyte count,... |
OMIM:615468 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Micrognathia, Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypoplasia of the o... |
OMIM:252500 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Chorea, X... |
ORPHA:289390 |
| Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Short neck, Impaired pain sensation, Abnormality of the... |
ORPHA:870 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Ataxi... |
ORPHA:3363 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
| Pure Mitochondrial Myopathy |
|
Waddling gait, Lumbar hyperlordosis, Hypotonia, Scoliosis, Loss of ambulation, Frequent falls |
ORPHA:254854 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis, Anal atresia |
OMIM:227260 |
| Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax... |
ORPHA:93357 |
| Systemic Sclerosis |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Gas... |
ORPHA:90291 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Waddling gait, Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum |
OMIM:271650 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect... |
ORPHA:169105 |
| Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Lumbar hyperlordosis |
OMIM:609325 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Apnea, Poor appetite, Gastrointestinal dysmotility, Vocal cord paralysis, Gastroesophageal reflux... |
OMIM:617799 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Multiple prenatal fractures, Flexion contractur... |
OMIM:616867 |
| Even-Plus Syndrome |
|
Highly arched eyebrow, Short neck, Synophrys, Vertebral clefting, Atopic dermatitis, Coronal clef... |
OMIM:616854 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Osteopenia, Waddling gait, Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Short... |
OMIM:614813 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Short neck, Triangular shaped distal phalanges of t... |
OMIM:271665 |
| Omenn Syndrome |
|
Failure to thrive, Alopecia, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Chronic diarrhe... |
ORPHA:39041 |
| Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
| Simpson-Golabi-Behmel Syndrome |
|
Congenital diaphragmatic hernia, Short neck, High, narrow palate, Vertebral segmentation defect, ... |
ORPHA:373 |
| Camurati-Engelmann Disease |
|
Waddling gait, Skeletal muscle atrophy, Increased bone mineral density, Diaphyseal sclerosis, Gen... |
OMIM:131300 |
| Familial Mediterranean Fever |
|
Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Abdominal pain... |
OMIM:249100 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets |
OMIM:613388 |
| Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Asthma, Chronic myelomonocyt... |
ORPHA:90280 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Single transverse palmar crease, Kyphoscoliosis, Cox... |
OMIM:617425 |
| Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Micrognathia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Distal sensory impairmen... |
OMIM:617675 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Kyphosis, Flexion contracture, Bone cyst, Osteolysis, Abnormal form of the verte... |
ORPHA:3042 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... |
OMIM:608184 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Micrognathia, Slender long bone, Decreased calvarial ossification, Arthrogrypos... |
OMIM:618265 |
| Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Short humerus, Short femur, Micrognathia, Hypoplastic ilia, Long fingers, Short neck, F... |
OMIM:264090 |
| Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Decreased response to growth hormone stimulation test, Nasogastric tube feed... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Decreased response to growth hormone stimulation test, Nasogastric tube feed... |
ORPHA:363958 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Fo... |
OMIM:614470 |
| Esophagitis, Eosinophilic, 2 |
|
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive |
OMIM:613412 |
| Esophagitis, Eosinophilic, 1 |
|
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive |
OMIM:610247 |
| Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Spinal arachnoid cyst, Progressive sp... |
ORPHA:2985 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Lumbar hyperlordosis, Distal sensory impairment, Steppage gait, Positive Romberg sign, Scoliosis,... |
OMIM:601152 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Increased intervertebral space, Irregular vertebral endplates, T lymphocytopenia, Neutropenia, Ju... |
OMIM:607944 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Large hands, Scoliosis, Tapered finger |
ORPHA:276630 |
| Kenny-Caffey Syndrome, Type 1 |
|
Small hand, Short foot, Slender long bone, Short palm, Decreased skull ossification, Calvarial os... |
OMIM:244460 |
| Crisponi Syndrome |
|
Camptodactyly of finger, Micrognathia, Kyphosis, Flexion contracture, Limitation of joint mobilit... |
ORPHA:1545 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Apnea, Decreased response to growth hormone stimulation test, Synophrys, Flexion contracture, Kne... |
OMIM:619503 |
| Hurler Syndrome |
|
Hypoplasia of the femoral head, Coxa valga, Joint stiffness, Hypoplasia of the odontoid process, ... |
OMIM:607014 |
| Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... |
OMIM:615482 |
| Lateral Meningocele Syndrome |
|
Inguinal hernia, Short neck, Hyperlordosis, High, narrow palate, Cryptorchidism, Kyphosis, Hypoto... |
ORPHA:2789 |
| Acute Lung Injury |
|
Respiratory distress, Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneu... |
ORPHA:178320 |
| Congenital Myopathy 18 |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Scoliosis, Incr... |
OMIM:620246 |
| Riddle Syndrome |
|
Generalized lymphadenopathy, Bronchitis, Otitis media, Poor hand-eye coordination, Decreased circ... |
ORPHA:420741 |
| Faciocardiomelic Syndrome |
|
Osteopenia, Micrognathia, Cuboid-shaped vertebral bodies, Slender long bone, Polydactyly, Hypopla... |
OMIM:612731 |
| Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal metaphysis morphology, Abnormal form of the vertebral bodies, Mesomelic/rhizom... |
ORPHA:1354 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Bicoronal synostosis, Sandal gap, Rocker bottom foot, Camptodactyly of finger, Mic... |
OMIM:619951 |
| Omenn Syndrome |
|
Alopecia, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Diarrhea, Thrombocytop... |
OMIM:603554 |
| Native American Myopathy |
|
Joint laxity, Skeletal muscle atrophy, Micrognathia, Inability to walk, Abnormality of skeletal m... |
ORPHA:168572 |
| Bainbridge-Ropers Syndrome |
|
Synophrys, Contracture of the proximal interphalangeal joint of the 4th finger, Hypertonia, High ... |
OMIM:615485 |
| Intrinsic Factor Deficiency |
|
Somatic sensory dysfunction, Increased RBC distribution width, Megaloblastic anemia, Increased me... |
OMIM:261000 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Recurrent respiratory infections, Alopecia, Abnormal dental enamel morphology, Highly arched eyeb... |
ORPHA:3253 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Microretrognathia, Sacral dimple, Ataxia, Short neck, Tremor, Kyphosis, Talipes cavus... |
OMIM:300966 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Ataxia, Sparse eyebrow, High, narrow palate, Nail dystrophy, Sparse hair, Tiger tail banding |
OMIM:619692 |
| White-Sutton Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Gastroesophageal reflux, High palate, Generalized hy... |
OMIM:616364 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone stimulation t... |
ORPHA:811 |
| Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Neurogenic bladder, Thick eyebrow, Decreased muscle mass, Elbow contracture, Fee... |
OMIM:617137 |
| Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Hypotonia, Truncal obesity, Sparse body hair, Failure to thrive, Decreased testic... |
ORPHA:261483 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Colitis, Recurre... |
OMIM:613960 |
| Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sacral dimple, Cryptorchidism, High, narrow palate, Constipation, Sparse hair, Umbilical hernia |
OMIM:273390 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Rickets |
OMIM:211600 |
| Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Sparse hair, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
| Pelvis-Shoulder Dysplasia |
|
Waddling gait, Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, L... |
ORPHA:2839 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Thoracic scoliosis, Equinus calcaneus, Micrognathia, Impaired temperature sensation, ... |
ORPHA:536532 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... |
OMIM:619924 |
| Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
| Brittle Cornea Syndrome |
|
Hallux valgus, Pes planus, Arachnodactyly, Osteoporosis, Increased susceptibility to fractures, J... |
ORPHA:90354 |
| Van Maldergem Syndrome 2 |
|
Osteopenia, Joint laxity, Short fourth metatarsal, Ulnar deviation of the hand, Sacral dimple, Mi... |
OMIM:615546 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Kyphosis, Osteoporosis, Skeletal muscle atrophy |
OMIM:219080 |
| Poems Syndrome |
|
Papilledema, Thrombocytosis, Lipodystrophy, Respiratory insufficiency due to muscle weakness, Leu... |
ORPHA:2905 |
| Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion co... |
OMIM:268300 |
| Three M Syndrome 1 |
|
Neonatal respiratory distress, Scapular winging, Small for gestational age, Hyperlordosis, Short ... |
OMIM:273750 |
| Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Brittle hair, Sparse eyelashes, Sparse eyebrow, Kyphos... |
OMIM:617988 |
| Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Abnormal pleura morphology, Abdominal pain, Pustule, Diarrhea, Respi... |
ORPHA:29207 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Short long bone, Vertebral segmentation defect, Talipes equinovarus |
OMIM:618845 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Opt... |
ORPHA:370959 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... |
OMIM:608106 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Anorexia, Malabsorption, Hype... |
ORPHA:98850 |
| Mucopolysaccharidosis, Type Vi |
|
Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Pneumonia, Anterio... |
OMIM:253200 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Hiatus hernia, Spastic parap... |
OMIM:601162 |
| Myopathy, Distal, Tateyama Type |
|
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Intrinsic hand muscle atrophy, ... |
OMIM:614321 |
| Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Cough, Absent outer dynein arms, Bronchiectasis, Decrea... |
OMIM:612444 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Congenital hip dislocation, Kyphosis, Scoliosis, Disloca... |
OMIM:619797 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Thanatophoric Dysplasia |
|
Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibili... |
ORPHA:2655 |
| Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Rickets |
ORPHA:2088 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... |
OMIM:619178 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Abnormality o... |
ORPHA:3121 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Myopathy, Gait disturbance, Increased variability in muscle fiber diameter, Spasticity |
OMIM:125250 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Dysmetria, Gait ataxia, Limb ataxia, Abnormality of extrapyramidal motor function, Scol... |
OMIM:610743 |
| Joubert Syndrome 37 |
|
Lumbar hyperlordosis, Cryptorchidism, Oculomotor apraxia, Obesity, High palate, Generalized hypot... |
OMIM:619185 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets |
OMIM:611590 |
| Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Micrognathia, Short neck, Humeroradial synostosis, Hypoplasia of... |
ORPHA:3404 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Gastroesophageal reflux, Vomiting, Cough, Hilar lymph node enlargement, Atelectasis, Le... |
OMIM:620233 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... |
ORPHA:2502 |
| Primary Biliary Cholangitis |
|
Orthostatic hypotension, Increased circulating IgA level, Celiac disease, Abdominal distention, H... |
ORPHA:186 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Chronic diarrhea, Recurrent upper respiratory tract infections, Bronch... |
OMIM:616005 |
| Weaver Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypertonia, H... |
OMIM:277590 |
| Boutonneuse Fever |
|
Skin rash, Maculopapular exanthema, Abdominal pain, Diarrhea, Cervical lymphadenopathy, Lymphaden... |
ORPHA:83313 |
| Plague |
|
Respiratory distress, Chapped lip, Glossitis, Anorexia, Lymphadenitis, Bloody diarrhea, Acute inf... |
ORPHA:707 |
| Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Optic atrophy, Hypotonia, High pa... |
OMIM:606812 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Cryptorchidism, Obesity, Sparse body hair |
ORPHA:85274 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Sh... |
ORPHA:85293 |
| Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Short neck, High, narrow palate, Synophrys, Hypertonia, High pal... |
OMIM:122470 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Hyperlordosis |
ORPHA:3085 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o... |
OMIM:184253 |
| Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
| Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Short metatarsal, Elbo... |
OMIM:608328 |
| Cardiofaciocutaneous Syndrome 1 |
|
Short neck, Feeding difficulties in infancy, Hypertonia, Gastroesophageal reflux, High palate, Vo... |
OMIM:115150 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Inability to walk, Increased variability in muscle fiber diameter, Ataxia, Gait ataxia |
OMIM:617915 |
| Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Pancytopenia, Ataxia, Pneumonia, Hepatosplenomegaly, Clumsiness, Macroglossia,... |
ORPHA:309288 |
| Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Thrombocytopenia, Increased circulating IgM level, Arthritis,... |
ORPHA:448237 |
| 19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Sandal gap, Craniosynostosis, Short neck, Kyphosis, Deep plantar c... |
ORPHA:254346 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Cachexia, Abnormality of the spleen, Tracheoesophageal fi... |
ORPHA:93941 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Ataxia,... |
OMIM:615688 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Finger syndactyly, Congen... |
OMIM:308050 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, T... |
ORPHA:2872 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Eczema, Sparse eyebrow, Head titubation, Babinski sign, Craniofacial dystonia, Spastic diplegia, ... |
OMIM:619691 |
| 2Q32Q33 Microdeletion Syndrome |
|
Aggressive behavior, Hypotonia, Cleft palate, Fine hair, Feeding difficulties, High palate, Atten... |
ORPHA:251019 |
| Schnitzler Syndrome |
|
Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Arthriti... |
ORPHA:37748 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Exaggerated startle response, Short femur, Short stature, Tapered finger, Feeding ... |
OMIM:618367 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Inguinal hernia, Ataxia, Cryptorchidism, Fine hair, Gait disturbance, Sparse hair |
ORPHA:1174 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
EEG with parietal focal spikes, Hyperlordosis, Aggressive behavior, Synophrys, Obesity, Cleft pal... |
OMIM:301066 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Recurrent respiratory infections, Inguinal hernia, Camptodactyly of finger, Bowel incontinence, H... |
ORPHA:261330 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen... |
ORPHA:36234 |
| Filippi Syndrome |
|
Dystonia, Cryptorchidism, Optic atrophy, Decreased body weight, Sparse hair, Frontal hirsutism, H... |
OMIM:272440 |
| Geleophysic Dysplasia 1 |
|
Short palm, Osteopenia, Camptodactyly of finger, Coxa valga, Joint stiffness, Short foot, Short l... |
OMIM:231050 |
| Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Cachexia, Dyspnea, Wheezing, Respiratory tract infection, Bronchiecta... |
ORPHA:60033 |
| Prader-Willi Syndrome |
|
Osteopenia, Syndactyly, Decreased muscle mass, Impaired pain sensation, Kyphosis, Acromicria, Sma... |
OMIM:176270 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... |
ORPHA:1303 |
| Marbach-Rustad Progeroid Syndrome |
|
Femur fracture, Micrognathia, Reduced bone mineral density, Short clavicles, Intention tremor |
OMIM:619322 |
| Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Narrow foot, Femoral bowing... |
OMIM:600920 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Talipes, Severe generalized osteoporosis, Micrognathia, Kyphoscoliosis, Hypoplas... |
OMIM:210730 |
| Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Abnormal dental enamel morphology, Camptodactyly of finger, Esophageal... |
ORPHA:2908 |
| Sjögren-Larsson Syndrome |
|
Joint stiffness, Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Scoliosis, Spasticity |
ORPHA:816 |
| Incontinentia Pigmenti |
|
Ridged nail, Hemivertebrae, Uveitis, Coarse hair, Sparse hair, Atrophic, patchy alopecia, Alopeci... |
OMIM:308300 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Aplastic anemia, Ataxia, Dyspnea, Thrombocytopenia, Nail pits, Premature g... |
OMIM:127550 |
| Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Vomiting, Cough, Abnormal vertebral morphology, Ataxia, Abdominal pai... |
ORPHA:284 |
| Unilateral Polymicrogyria |
|
Axial hypotonia, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Involuntary movements, S... |
ORPHA:268943 |
| Metachromatic Leukodystrophy |
|
Dystonia, Ataxia, Incoordination, Bowel incontinence, Abnormal stomach morphology, Decreased nerv... |
ORPHA:512 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:2511 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Sternocleidomastoid amyotrophy, Short neck, Small hand, Short foot, Spina bifida occu... |
ORPHA:488434 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Facial palsy, Micrognathia, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Fronta... |
OMIM:300580 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Camptodactyly of finger, Hyperlordosis, Sparse eyebrow, Hypotonia, Leukonychia,... |
ORPHA:77258 |
| Enlarged Parietal Foramina |
|
Broad thumb, Short clavicles, Craniosynostosis |
ORPHA:60015 |
| Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Abdominal pain, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipatio... |
ORPHA:209964 |
| Congenital Factor Xiii Deficiency |
|
Epistaxis, Inflammation of the large intestine, Intramuscular hematoma, Myeloid leukemia, Hepatic... |
ORPHA:331 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Brain abscess, Lumbar hyperlordosis, Bowel incontinence, Kyp... |
OMIM:616482 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodacty... |
OMIM:276820 |
| Scleromyxedema |
|
Abnormality of the gastrointestinal tract, Elevated circulating creatine kinase concentration, Hy... |
ORPHA:167635 |
| Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Pustule, Abnormal sacroil... |
ORPHA:793 |
| Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Reactive hypoglycemia, Hypoinsulinemia, Malabsorption |
OMIM:600955 |
| Chédiak-Higashi Syndrome |
|
Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes,... |
ORPHA:167 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Ataxia, Kyphosis, Gait disturbance, Scoliosis, Bilateral single transverse palmar creases |
ORPHA:85317 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Pes planus, Decreased muscle mass, Congenital hip dislocation, Kyphoscoliosis, Genera... |
ORPHA:2834 |
| Chops Syndrome |
|
Curly hair, Thick eyebrow, Gastroparesis, Thick hair, High, narrow palate, Cryptorchidism, Spleno... |
OMIM:616368 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of marginal zone B cel... |
OMIM:619375 |
| Q Fever |
|
Respiratory distress, Anorexia, Cholecystitis, Cough, Infectious encephalitis, Maculopapular exan... |
ORPHA:781 |
| Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Broad long bones, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia... |
OMIM:228520 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Wide anterior fontanel, Abnormal cortical bone morphology |
OMIM:614886 |
| Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Abnormal pyramidal sign, Impaired proprioception, Atax... |
ORPHA:79138 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, High ... |
OMIM:262190 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Thoracic scoliosis, Nemaline bodies, Abnormality of skeletal muscle fibe... |
OMIM:620278 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Eczema, Hyperconvex nail, Chronic constipation, Gastroesophageal reflux, Scoliosis, Sparse hair, ... |
OMIM:619721 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Cough, Dyspnea, Vocal cord paralysis, Tracheoesophageal fistula, Upper airw... |
ORPHA:142 |
| Immunodeficiency 31C |
|
Skeletal muscle atrophy, Villous atrophy, Protein-losing enteropathy, Cough, Recurrent vulvovagin... |
OMIM:614162 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... |
OMIM:607459 |
| Baralle-Macken Syndrome |
|
Pes planus, Tapered finger, Inability to walk, Kyphosis, Spasticity |
OMIM:619255 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Thin nail, Absent eyelashes, Sparse hair, Nail dystrophy, Recurrent otitis media |
OMIM:618625 |
| Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Increased circulating antibody level, Weight loss |
ORPHA:411593 |
| Interstitial Lung Disease 2 |
|
Dyspnea, Alveolar cell carcinoma, Increased circulating antibody level, Pulmonary fibrosis, Eleva... |
OMIM:178500 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Kyphosis, Recurrent pneumonia, Hypotonia, Cleft palate, Furrowed tongue, Gastroe... |
OMIM:616449 |
| Lysinuric Protein Intolerance |
|
Skeletal muscle atrophy, Leukopenia, Vomiting, Sparse hair, Nausea, Respiratory insufficiency, An... |
OMIM:222700 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Skeletal muscle hypertrophy, C... |
OMIM:613157 |
| Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Normocytic anemia, Ataxia, Epistaxis, Abnormality of neutrophils, Ma... |
ORPHA:33226 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Increased circulating interleukin 6 concentration, Elevated circulating ... |
OMIM:256040 |
| Sandhoff Disease |
|
Kyphosis, Ataxia |
ORPHA:796 |
| Chromosome 10Q26 Deletion Syndrome |
|
Omphalocele, Scapular winging, Lumbar hyperlordosis, Small for gestational age, Hyperactivity, Br... |
OMIM:609625 |
| Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Respiratory tract infection, Abdominal distention, Secre... |
OMIM:619445 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thin bony cortex, Increased intervertebral space, Broad ischia, Diaphyseal... |
OMIM:619727 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Ataxia, Increased circulating IgA level, Abd... |
ORPHA:343 |
| Multiple Myeloma |
|
Increased circulating IgA level, Spinal cord compression, Splenomegaly, Functional abnormality of... |
ORPHA:29073 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Abnormal limb epiphysis morphology, Abnormal odontoid process morphology, Kyphoscoliosis, Metaphy... |
ORPHA:2976 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Recurrent fractures, Kyphoscoliosis, Abnormal toe morphology, Abnormal finger morphol... |
OMIM:163200 |
| Hennekam-Beemer Syndrome |
|
Pneumonia, Camptodactyly of finger, Abdominal pain, Optic atrophy, Hypotonia, Respiratory insuffi... |
ORPHA:2135 |
| Martsolf Syndrome 1 |
|
Thoracic scoliosis, Clonus, Micrognathia, Osteopathia striata, Finger joint hypermobility, Short ... |
OMIM:212720 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
| Hereditary Mucoepithelial Dysplasia |
|
Recurrent respiratory infections, Alopecia, Anorectal anomaly, Tracheoesophageal fistula, Fine ha... |
ORPHA:1839 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Paronychia, Gastrointestinal inflammation, Vomiting, Abnormality of the nai... |
ORPHA:79404 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Calcinosis, Down-sloping shoulders, Coxa valga, Joint stiffness, Micrognathia, Flexio... |
OMIM:248370 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Ataxia, Abdominal p... |
ORPHA:163746 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Lumbar hyperlordosis, Lipodystrophy, Elevated circulating creatine kinas... |
OMIM:615980 |
| Angiostrongyliasis |
|
Projectile vomiting, Poor appetite, Increased circulating IgA level, Abdominal pain, Hypereosinop... |
ORPHA:74 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Epistaxis, Chronic neutropenia, Diarrhea, Hepatocellular adenoma, Enterocolitis, Ulcerative colit... |
ORPHA:79259 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Weight loss, Lymphadenopathy, Increased circulating antibody... |
ORPHA:100024 |
| Gand Syndrome |
|
Neonatal hypotonia, Hyperactivity, Tics, Inappropriate laughter, Sparse hair |
OMIM:615074 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Neutrope... |
OMIM:601495 |
| Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Osteolysis, Pedal edema, Pa... |
ORPHA:77259 |
| Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Micrognathia, Kyphosis, Abnor... |
ORPHA:2050 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
| Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Ataxia, Supernumerary nipple, Hiatus hernia, Short neck, Cryptorchidism, A... |
ORPHA:2896 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Kyphosis, Osteoporosis |
OMIM:610475 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Increased circu... |
OMIM:601859 |
| Stickler Syndrome, Type I |
|
Arachnodactyly, Joint stiffness, Micrognathia, Kyphosis, Irregular femoral epiphysis, Osteoarthri... |
OMIM:108300 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Lower limb spasticity, Restlessness, Lumbar hyperlordosis, Broad-based gait, Short neck, Feeding ... |
ORPHA:251028 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Structural foot deformity, Fatty replacement of skeletal muscle, Tremor, Vocal cord paralysis, Ar... |
ORPHA:397744 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Inguinal hernia, Decreased muscle mass, Lipodystrophy, Thick hair, Abnormal subcutaneous fat tiss... |
ORPHA:357074 |
| Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Alopecia, Skin rash, Pneumonia, Decreased circulating complement factor B conce... |
ORPHA:2298 |
| Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Monocytosis, Increased circulating IgM ... |
ORPHA:2688 |
| O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Tapered finger |
OMIM:618512 |
| Facioscapulohumeral Dystrophy |
|
Hyperlordosis |
ORPHA:269 |
| 15Q24 Microdeletion Syndrome |
|
Joint laxity, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb morpho... |
ORPHA:94065 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Hyperactivity, Lumbar hyperlordosis, Hyperlordosis, Aggressive behavior, Cryptorchidism, Synophry... |
OMIM:616078 |
| X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Progressive extrapyramidal muscular rigidity, Protruding tongue, Chorea, Torsion ... |
ORPHA:53351 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Pes planus, Short femur, Talipes, Micrognathia, Short neck, Talipes equinovarus, Broad distal pha... |
OMIM:300990 |
| Cystic Echinococcosis |
|
Abdominal symptom, Multiple pulmonary cysts, Pulmonary cyst, Abscess, Abnormality of the testis s... |
ORPHA:400 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Lipoatrophy, Hypotonia, Feeding difficulties, Sparse hair, Failure to thriv... |
ORPHA:261304 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflammation of t... |
ORPHA:562639 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation |
OMIM:619405 |
| Spinocerebellar Ataxia Type 13 |
|
Torticollis, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, Titubation, Clumsines... |
ORPHA:98768 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Bicoronal synostosis, Joint stiffness, Short long bone, Scoliosis, Short palm, ... |
OMIM:619184 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Pneumonia, Eosinophilia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous c... |
OMIM:158310 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Spasticity, Gait disturbance, Scoliosis |
ORPHA:2429 |
| Mirage Syndrome |
|
Decreased body weight, Cryptorchidism, Esophageal stricture, Chronic diarrhea, Thrombocytopenia, ... |
OMIM:617053 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Hyperlordosis, Hypotonia, Coronal cleft vertebrae, Scoliosis, Butterfly vertebrae |
OMIM:618870 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Lipodystrophy, Elevated circulating C-reactive protein concentration, In... |
OMIM:617099 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Exercise-induced rhabdomyolysis, Inflammatory abnormality of the skin, Smal... |
ORPHA:26793 |
| Fusariosis |
|
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Paronychia, Neutropenia, Brain abscess... |
ORPHA:228119 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Flexion contracture, Hypotonia, EEG abnormality, Scoliosis, Sparse b... |
ORPHA:2850 |
| Pediatric Systemic Lupus Erythematosus |
|
Myositis, Leukopenia, Vomiting, Decreased circulating complement C4 concentration, Nephritis, Alo... |
ORPHA:93552 |
| Tetrasomy 12P |
|
Cachexia, Short neck, Abnormal soft palate morphology, Sparse eyebrow, Hypotonia, Sparse hair, An... |
ORPHA:884 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal mal... |
ORPHA:436252 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair pattern, Abnormal sacroiliac joint m... |
ORPHA:1807 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Scoliosis, Generalized hypotonia, Hyperlordosis |
OMIM:617821 |
| Dyskeratosis Congenita |
|
Abnormality of neutrophils, Anorectal anomaly, White hair, Premature graying of hair, Periodontit... |
ORPHA:1775 |
| Thanatophoric Dysplasia Type 2 |
|
Micromelia, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspondyly, Abnorm... |
ORPHA:93274 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
| Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ... |
ORPHA:35689 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Micrognathia, Hypertonia, Left ventricular noncompaction, Increased intramyocellular lipid drople... |
OMIM:617228 |
| Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter, Chorea, Athetosis, Myoclonus |
OMIM:617235 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Joint hypermobility, Kyphosis, Osteoporosis, Scoliosis, Bicoronal synostosis |
OMIM:619718 |
| Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, Membranopro... |
ORPHA:91139 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Bronchitis, Lymphadenitis, Abnormality of the parathy... |
ORPHA:2552 |
| Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Polyphagia, Pineal cy... |
OMIM:615873 |
| Classic Homocystinuria |
|
Arachnodactyly, Recurrent fractures, Joint stiffness, Kyphosis, Hemiplegia/hemiparesis, Osteoporo... |
ORPHA:394 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Broad long bones, Abnormal metatarsal morphology, Short neck, Rhizo-meso-acromelic limb shortenin... |
ORPHA:163654 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ... |
OMIM:620265 |
| Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscle, Tremor, Increased var... |
OMIM:619790 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Intestinal ma... |
ORPHA:244 |
| Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
| 8Q24.3 Microdeletion Syndrome |
|
Congenital hip dislocation, Micromelia, Feeding difficulties in infancy, Nasogastric tube feeding... |
ORPHA:508488 |
| O'Sullivan-Mcleod Syndrome |
|
Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Eosinophilia, Ha... |
ORPHA:99965 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversion, Bowing of... |
OMIM:610682 |
| Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Short thumb, Osteoporosis, Growth delay, Increased mean corpuscula... |
OMIM:612562 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Short femur, Talipes equinovarus, Limb hypertonia |
OMIM:620306 |
| Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Impaired vibratory sensation, Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Lower limb ... |
ORPHA:88644 |
| Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
| Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Lipoatrophy, Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body h... |
ORPHA:1818 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Ga... |
ORPHA:95455 |
| Kaufman Oculocerebrofacial Syndrome |
|
Optic disc pallor, Neonatal respiratory distress, Axial hypotonia, Ovoid vertebral bodies, Intest... |
OMIM:244450 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, R... |
ORPHA:264675 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Pes planus, Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of the ... |
OMIM:618050 |
| Hypomelanosis Of Ito |
|
Syndactyly, Kyphosis, Hand polydactyly, Scoliosis, Radial deviation of finger, Clinodactyly |
OMIM:300337 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail |
OMIM:617294 |
| 4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Short neck, Tremor, Kyphosis, Small hand, Short foot, Scoliosis, Shor... |
ORPHA:238750 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Elevated circulating C-reactive protein concentration, Uveitis, Conjunctivit... |
ORPHA:32960 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Hypotonia, Multiple lipomas, Attention deficit hyperactivity disorder, Lymp... |
ORPHA:210548 |
| Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,... |
ORPHA:464329 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Reduced vital capacity, Osteomyelitis, Elevated circulating C-reactive protein concentration, Pul... |
ORPHA:70591 |
| Listeriosis |
|
Back pain, Respiratory distress, Liver abscess, Tremor, Abnormal cellular immune system morpholog... |
ORPHA:533 |
| Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Recurrent fractures, Micrognathia, Hyperextensibility of the knee, Osteoporosis, P... |
OMIM:601812 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Inguinal hernia, Cryptorchidism, Hypotonia, Athetosis, Distal amyotrophy, Scoliosis, Sparse hair,... |
OMIM:219150 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Micrognathia,... |
ORPHA:3082 |
| Chromosome 5P13 Duplication Syndrome |
|
Small for gestational age, Hypotonia, Low posterior hairline, Self-injurious behavior, High palat... |
OMIM:613174 |
| Trichohepatoenteric Syndrome 1 |
|
Curly hair, Villous atrophy, Brittle hair, Small for gestational age, Increased mean platelet vol... |
OMIM:222470 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Pancreatic steatosis, Hernia, Neutropenia, Sparse hair, Amelogenesis imperfecta,... |
OMIM:617052 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
| Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Cleft palate, Nail dystrophy, T... |
ORPHA:2890 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Intestinal perforation, Tubulointerstitial nephritis, Gastroesophageal reflux, Vomiting, Nausea, ... |
ORPHA:85450 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Lipodystrophy, Failure to thrive, Thrombocytopenia, Splenomegaly,... |
OMIM:617591 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Broad-based gait, Axial hypotonia, Dorsocervical fat pad, Small for gestational age, Kyphoscolios... |
ORPHA:391408 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspepsia, Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Esophageal stenosis... |
ORPHA:1018 |
| Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter |
OMIM:611615 |
| Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Genu valgum,... |
ORPHA:583 |
| Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Vocal cord paralysis, Premature gray... |
OMIM:619488 |
| Ivic Syndrome |
|
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad... |
ORPHA:2307 |
| Aspartylglucosaminuria |
|
Pes planus, Abnormal morphology of ulna, Joint stiffness, Arthritis, Macroglossia, Anterior beaki... |
ORPHA:93 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Lack of facial subcutaneous fat, Clonus, Dysmetria, Gait ataxia, Vomiting, Sparse hair, Lower lim... |
OMIM:606721 |
| Steel Syndrome |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:615155 |
| Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Anorexia, Leu... |
ORPHA:50918 |
| Optic Atrophy 11 |
|
Ataxia, Gait apraxia, Dysmetria, Facial diplegia, Athetosis, Hyperkinetic movements, Bilateral ta... |
OMIM:617302 |
| Lethal Congenital Contracture Syndrome 9 |
|
Thoracic kyphoscoliosis, Elbow extension contracture, Ulnar deviation of the hand, Micrognathia, ... |
OMIM:616503 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Congenital muscular torticollis, Elbow dislocation, Kyphosis, Postaxial hand po... |
ORPHA:2916 |
| Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Aganglionic megacolon, Thyroid C cell hyperplasia, Hyperlord... |
ORPHA:653 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Impaired pain sensation, Kyphosis, Chorea, Inability to walk, Abnormal pyramidal sign, Gait ataxi... |
ORPHA:500180 |
| Wolfram Syndrome 2 |
|
Neurogenic bladder, Optic neuropathy, Optic atrophy, Decreased circulating antibody level, Gastri... |
OMIM:604928 |
| Marden-Walker Syndrome |
|
Decreased muscle mass, Arachnodactyly, Micrognathia, Short neck, Wide anterior fontanel, Kyphosis... |
OMIM:248700 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Bowing of the long bones, Coarse metaphyseal trabecularization, Brachydactyly, Recurr... |
ORPHA:955 |
| Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma... |
ORPHA:543 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Axial hypotonia, Ataxia, Inability to walk, Oculomotor apraxia, Multifocal epileptiform discharge... |
OMIM:618087 |
| Sarcoidosis, Susceptibility To, 2 |
|
Facial palsy, Erythema nodosum, Dyspnea, Splenomegaly, Pneumothorax, Mediastinal lymphadenopathy,... |
OMIM:612387 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Micrognathia, Flexion contracture, Progressive clavicular acroosteolysis, Osteolytic defects of t... |
OMIM:608612 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets |
OMIM:607765 |
| Macs Syndrome |
|
Alopecia, Sparse eyebrow, Cryptorchidism, Bronchiectasis, Hypotonia, High palate, Recurrent aphth... |
OMIM:613075 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... |
OMIM:272460 |
| Gaucher Disease, Type Ii |
|
Apnea, Rigidity, Thrombocytopenia, Splenomegaly, Oculomotor apraxia, Dysphagia, Feeding difficult... |
OMIM:230900 |
| Lowe Oculocerebrorenal Syndrome |
|
Osteomalacia, Camptodactyly of finger, Wrist swelling, Kyphosis, Hip dislocation, Rickets, Genu v... |
OMIM:309000 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis |
ORPHA:2598 |
| Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck,... |
OMIM:114300 |
| X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Decreased muscle mass, Arachnodactyly, Recurrent fractures, Kyphoscoliosis, Involuntary... |
ORPHA:3063 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Abnormal curvature of the vertebral column, Gastroesophageal reflux, Otitis media, Cervical cord ... |
ORPHA:353281 |
| Bazex-Dupre-Christol Syndrome |
|
Eczema, Trichorrhexis nodosa, Atopic dermatitis, Furrowed tongue, Coarse hair, Sparse hair, Trich... |
OMIM:301845 |
| Cardiofaciocutaneous Syndrome |
|
Brittle hair, Short neck, Feeding difficulties in infancy, High palate, Sparse hair, Dystrophic f... |
ORPHA:1340 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Nodular goit... |
ORPHA:97290 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Microretrognathia, Diaphragmatic eventration, Spinal muscular atrophy, Multiple prenatal fracture... |
OMIM:616866 |
| Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Absent inner dynein arms, Chroni... |
OMIM:613807 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, Short neck, Fle... |
ORPHA:1865 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... |
OMIM:612999 |
| Hyper-Igd Syndrome |
|
Optic disc pallor, Neutrophilia, Skin rash, Increased circulating IgA level, Abdominal pain, Lymp... |
OMIM:260920 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... |
OMIM:608807 |
| Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Diastasis recti, Joint stiffness, Metatarsus adduct... |
OMIM:253220 |
| Oculoskeletodental Syndrome |
|
Thoracic kyphosis, Scoliosis, Hyperlordosis |
ORPHA:557003 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short humerus, Short metacarpal, Rhizomelic arm shortening, Brachydactyly |
ORPHA:508542 |
| Coccidioidomycosis |
|
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Cough, Morbilli... |
ORPHA:228123 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... |
OMIM:620235 |
| Immunodeficiency 43 |
|
Hypoproteinemia, Recurrent respiratory infections, Decreased specific antibody response to polysa... |
OMIM:241600 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Small hypothenar eminence, Lumbar hyperlordosis, Decreased palmar creases, Thenar mus... |
ORPHA:2232 |
| Immunodeficiency 56 |
|
Recurrent respiratory infections, Cholangitis, Hepatic failure, Chronic diarrhea, Recurrent pneum... |
OMIM:615207 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
| American Trypanosomiasis |
|
Skin rash, Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Myocarditi... |
ORPHA:3386 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... |
OMIM:619461 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis, Congenital fibrosis of extraocular muscles |
OMIM:609384 |
| Celiac Disease, Susceptibility To, 1 |
|
Osteoporosis, Ataxia, Rickets |
OMIM:212750 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Resting tremor, Facial palsy, Parkinsonism, Impaired distal propriocepti... |
OMIM:157640 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Iron deficiency anemia, Keratoconjun... |
ORPHA:309031 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Kyphosis, Osteoporosis, Biconcave vertebral bodies, Vertebral compressio... |
OMIM:219090 |
| Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Tremor, Abnormal lung morphology, Chorea, Abnormal pyramidal sign, Progre... |
ORPHA:646 |
| Bronchial Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Pneumonia, Elevated circulating growth hormone concentrati... |
ORPHA:97287 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
| Thrombocytopenia 1 |
|
Epistaxis, Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased me... |
OMIM:313900 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Hyperlordosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3218 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Camptodactyly of finger, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernai... |
ORPHA:2251 |
| Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Gastroesophageal reflux, Cough, Emphysema, Neonatal respir... |
ORPHA:95430 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Speech apraxia, Apnea, Severe muscular hypotonia, Feeding ... |
ORPHA:314655 |
| Fanconi Anemia, Complementation Group S |
|
Ataxia, Low anterior hairline, Narrow palate, Ovarian neoplasm, Long eyelashes, Ovarian carcinoma... |
OMIM:617883 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology, Cryptorchidism, Acute leukemia, Attention deficit hyperactivity diso... |
ORPHA:281090 |
| Abcd Syndrome |
|
Neonatal death, Aganglionic megacolon, Total intestinal aganglionosis |
OMIM:600501 |
| Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Atrophic scars, Sparse hair, Distichiasis, Sparse latera... |
ORPHA:79133 |
| Hyperlipoproteinemia, Type Id |
|
Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis |
OMIM:615947 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Facial hypotonia, Ataxia, Aggressive behavior, Synophrys, Hypotonia, Low posterior hairline, Clum... |
OMIM:619320 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
| Cdags Syndrome |
|
Sagittal craniosynostosis, Kyphosis, Short ribs, Lambdoidal craniosynostosis, Short clavicles, Co... |
OMIM:603116 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Ataxia, Single transverse palmar crease, Kyphosis, Unsteady gait, Scoliosis |
OMIM:300861 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Impaired temperature sensation, Kyphosis, Flexion contracture, Small hand, Osteoporos... |
ORPHA:398069 |
| Yellow Nail Syndrome |
|
Recurrent respiratory infections, Sinusitis, Abnormal fingernail morphology, Biliary tract neopla... |
ORPHA:662 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Curly hair, Hyperactivity, Kyphoscoliosis, Aggressive behavior, Sparse eyebrow, Hyposegmentation ... |
OMIM:620075 |
| Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Elevated circulating C-reactive protein concentratio... |
ORPHA:79126 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Ataxia, Babinski sign, Abnormal pyramidal sig... |
ORPHA:204 |
| Pelizaeus-Merzbacher Disease |
|
Ataxia, Joint stiffness, Kyphosis, Choreoathetosis, Gait disturbance, Scoliosis, Spasticity |
ORPHA:702 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Joint stiffness, Kyphosis, Abnormality of the elbow, Hip dislocation, Vertebra... |
ORPHA:1005 |
| Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Facial palsy, Hyperlordosis, High, narrow palate, Submucous cleft hard palate, Cleft palate, Scol... |
ORPHA:2780 |
| Glass Syndrome |
|
Restlessness, Inguinal hernia, Hyperactivity, Apnea, Facial hypotonia, Broad-based gait, Aggressi... |
OMIM:612313 |
| Lassa Fever |
|
Back pain, Nausea and vomiting, Abdominal pain, Cough, Dyspnea, Diarrhea, Increased circulating I... |
ORPHA:99824 |
| Three M Syndrome 3 |
|
Increased vertebral height, Hyperlordosis, Short neck |
OMIM:614205 |
| Immunodeficiency 67 |
|
Transient neutropenia, Increased circulating IgE level, Liver abscess |
OMIM:607676 |
| Semilobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, High palate, Gastroes... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, High palate, Gastroes... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, High palate, Gastroes... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, High palate, Gastroes... |
ORPHA:93924 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... |
ORPHA:85167 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Vertebral segmentation defect, Scoliosis, Hyperlordosis |
ORPHA:1323 |
| Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies, Pneumonia |
ORPHA:464370 |
| Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Cellulitis, Abnormal pl... |
ORPHA:238459 |
| Acrofacial Dysostosis, Palagonia Type |
|
Sparse eyelashes, Short neck, High, narrow palate, Low anterior hairline, Abnormal form of the ve... |
ORPHA:1787 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis |
ORPHA:1883 |
| Saethre-Chotzen Syndrome |
|
Abnormal hair pattern, Hyperlordosis, Cryptorchidism, Optic atrophy, Low anterior hairline, Cleft... |
ORPHA:794 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Broad-based gait, Brittle hair, Small for gestational age, Failure to thrive in infancy, Feeding ... |
OMIM:618891 |
| Castleman Disease |
|
Abnormality of the gastrointestinal tract, Nausea and vomiting, Increased circulating interleukin... |
ORPHA:160 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Lumbar hyperlordosis, Spastic tetraparesis, Cryptorchidism, Widow's peak, Optic atrophy, Hypotoni... |
OMIM:616975 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Absent facial hair, Short neck, High, narrow palate, Obesity, Low posterior h... |
ORPHA:2183 |
| Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Abnormal circulating inter... |
ORPHA:70578 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets |
OMIM:612089 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Kyphosis, Osteoporosis |
OMIM:610489 |
| Gracile Bone Dysplasia |
|
Slender long bone, Decreased skull ossification, Flared metaphysis, Brachydactyly |
OMIM:602361 |
| Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Micrognathia, Coxa valg... |
ORPHA:263508 |
| Pelger-Huet Anomaly |
|
Foot dorsiflexor weakness, Kyphosis, Upper limb undergrowth, Lower limb hypertonia, Polydactyly, ... |
OMIM:169400 |
| Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Decreased muscle mass, Highly arched eyebrow, Hyperlordosis, Short neck, Elbow fl... |
OMIM:615065 |
| Noonan Syndrome 6 |
|
Juvenile myelomonocytic leukemia, Curly hair, Long eyebrows, Short neck, Cryptorchidism, Low post... |
OMIM:613224 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Anterior uveitis, Psoriasiform dermatitis, Kyphosis, Oligoarthritis, Enthesitis, Infla... |
OMIM:106300 |
| H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Lipodystrophy, Malabsorption, Mic... |
ORPHA:168569 |
| Hemifacial Atrophy, Progressive |
|
Short mandibular rami, Kyphosis, Ataxia |
OMIM:141300 |
| Xylt1-Cdg |
|
Joint laxity, Pes planus, Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Sho... |
ORPHA:370930 |
| Melioidosis |
|
Foot osteomyelitis, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Respiratory tract infe... |
ORPHA:31202 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia, Hepatosplenomegaly, Hypoplastic vertebral bodies, Macrogl... |
ORPHA:79255 |
| Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Optic nerve hypoplasia, Decreased response to growt... |
OMIM:615280 |
| Coffin-Siris Syndrome 1 |
|
Dry hair, Congenital diaphragmatic hernia, Feeding difficulties in infancy, Gait ataxia, High pal... |
OMIM:135900 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... |
ORPHA:3472 |
| Rett Syndrome |
|
Skeletal muscle atrophy, Kyphosis, Gait apraxia, Gait ataxia, Short foot, Scoliosis, Truncal atax... |
OMIM:312750 |
| Cowden Syndrome 1 |
|
Colonic diverticula, Kyphosis, Thyroiditis, Decreased circulating antibody level, Hamartomatous p... |
OMIM:158350 |
| Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Ataxia, Short hallux, Micrognathia, Conge... |
ORPHA:280 |
| Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical... |
OMIM:150250 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Impaired temperature sensation, Painless fractures due to injury, Recurrent aspiration... |
ORPHA:642 |
| Mowat-Wilson Syndrome |
|
Cleft hard palate, Asplenia, Gastrointestinal dysmotility, Flexion contracture, Vomiting, Abnorma... |
ORPHA:2152 |
| Brachyolmia Type 3 |
|
Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec... |
OMIM:113500 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Leukopenia, Hypertonia, Hypoalbuminemia, Generalized hypotonia, Infectious encephalitis, Ataxia, ... |
OMIM:603553 |
| Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Small for gestational age, Hyperlordosis, Short neck, Hig... |
OMIM:612921 |
| Alpha-Mannosidosis, Infantile Form |
|
Optic disc pallor, Pancytopenia, Facial hypotonia, Pneumonia, Highly arched eyebrow, Short neck, ... |
ORPHA:309282 |
| Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Respiratory distress, Increased circulating interleukin 6 concentration, Acute tubuloi... |
ORPHA:340 |
| Split Cord Malformation |
|
Back pain, Hemivertebrae, Abnormal thoracic spine morphology, Tethered cord, Hyperlordosis, Tufte... |
ORPHA:573278 |
| Lysinuric Protein Intolerance |
|
Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Leukopenia, ... |
ORPHA:470 |
| Hawkinsinuria |
|
Sparse hair, Failure to thrive, Hypotonia, Fine hair |
ORPHA:2118 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... |
ORPHA:1106 |
| Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Decreased response to growth hormone stimulation test, Pneumonia, Cryptorchidism, ... |
OMIM:603467 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Rickets |
ORPHA:79303 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
| Ciliary Dyskinesia, Primary, 42 |
|
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... |
OMIM:618695 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,... |
ORPHA:958 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti... |
OMIM:307200 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
| Myasthenic Syndrome, Congenital, 19 |
|
Facial palsy, Spinal rigidity, Micrognathia, Distal joint laxity, Increased variability in muscle... |
OMIM:616720 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Brain abscess, Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... |
OMIM:610910 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Single transverse palmar crease, Tapered finger, Myoclonus, Type 1 muscle fiber predominance, Inc... |
OMIM:612949 |
| Marburg Hemorrhagic Fever |
|
Back pain, Elevated circulating creatine kinase concentration, Anorexia, Nonproductive cough, Ody... |
ORPHA:99826 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Inguinal hernia, Megaloblastic anemia, Abnormality of hair texture, Spastic tetraplegia, Feeding ... |
ORPHA:79351 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Feeding difficulties in infancy, Gastrointestinal dysmotility, Hemivert... |
ORPHA:500150 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Tarsal synostosis, Aplastic clavicle, Micrognathia, Wide anterior fontanel, Kyphosis, Coronal cra... |
ORPHA:85199 |
| Glycogen Storage Disease Ib |
|
Pancreatic fibrosis, Splenomegaly, Neutropenia, Gout, Inflammation of the large intestine, Protub... |
OMIM:232220 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Kyphosis, Inability to walk, Unsteady gait, Elbow flexion contracture, Genu valg... |
OMIM:618493 |
| Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Osteoarthritis, Cleft palate, Gl... |
ORPHA:1427 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Failure to thrive, Aplasia of the thymus, Recurrent bronchopulmonary infections, Chr... |
OMIM:242700 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Lymphopenia, Acute respiratory distress syndrome, Severe B lymphocytopenia, Cry... |
OMIM:620005 |
| Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Flat glenoid fossa, Flexion contracture, Hemivertebrae, Cutaneous ... |
OMIM:224690 |
| Shukla-Vernon Syndrome |
|
Broad-based gait, Impulsivity, Aggressive behavior, Hypotonia, Attention deficit hyperactivity di... |
OMIM:301029 |
| Distal Triplication 15Q |
|
Arachnodactyly, Craniosynostosis, Micrognathia, Kyphosis, Flexion contracture, Scoliosis, Camptod... |
ORPHA:314588 |
| Ring Chromosome 12 Syndrome |
|
Lumbar hyperlordosis, Acne, Small for gestational age, High, narrow palate, Cryptorchidism, Dystr... |
ORPHA:1439 |
| Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ... |
OMIM:187600 |
| Mucopolysaccharidosis, Type X |
|
Hyperlordosis, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, Beaking of ver... |
OMIM:619698 |
| Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Abnormal palmar dermatoglyphics, Lowe... |
ORPHA:2092 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Bilateral single transverse palmar creases, Micrognathia, Short neck, Kyphosis, Scoliosis, Synost... |
ORPHA:3191 |
| Blepharocheilodontic Syndrome 1 |
|
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis, Anal atresia |
OMIM:119580 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Thick eyebrow, Thoracolumbar kyphoscoliosis, Short neck, Protruding tongue, Aggressive behavior, ... |
OMIM:212066 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Micrognathia, Reduced bone mineral density, Gastrointestinal inflammation, Inflammati... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Osteopenia, Micrognathia, Reduced bone mineral density, Gastrointestinal inflammation, Inflammati... |
ORPHA:99228 |
| Monosomy X |
|
Osteopenia, Micrognathia, Reduced bone mineral density, Gastrointestinal inflammation, Inflammati... |
ORPHA:99226 |
| Turner Syndrome |
|
Osteopenia, Micrognathia, Reduced bone mineral density, Gastrointestinal inflammation, Inflammati... |
ORPHA:881 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Motheaten muscle fibers, Palmoplantar hyperkeratosis, Muscular dystrophy, Increased variability i... |
OMIM:226670 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Hypersplenism, Thrombocytopenia, Splenomegaly, Esophageal varix, Leu... |
ORPHA:64743 |
| Agel Amyloidosis |
|
Tongue atrophy, Ataxia, Facial palsy, Respiratory tract infection, Xerostomia, Keratoconjunctivit... |
ORPHA:85448 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Decreased muscle mass, Short neck, Micrognathia, Kyphosis, Sclerosis of skull b... |
OMIM:130720 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Back pain, Lumbar hyperlordosis, Hypotonia, Lumbar kyphosis, Spastic paraparesis |
OMIM:619234 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets |
OMIM:616026 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Severe muscular hypotonia, Concave nail, Abnormality of hair text... |
OMIM:234050 |
| Fibrochondrogenesis 2 |
|
Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Pl... |
OMIM:614524 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Waddling gait, Broad-based gait, Calf muscle hypertrophy, Myopathy, Difficulty walking, Pelvic gi... |
ORPHA:119 |
| Becker Nevus Syndrome |
|
Micromelia, Lower limb asymmetry, Kyphosis, Abnormal tibia morphology, Upper limb asymmetry, Scol... |
ORPHA:64755 |
| Menkes Disease |
|
Alopecia, Brittle hair, Decreased circulating ceruloplasmin concentration, Babinski sign, Hypoton... |
OMIM:309400 |
| Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... |
ORPHA:157798 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Spontaneous, recu... |
OMIM:214500 |
| Neuroleptic Malignant Syndrome |
|
Extrapyramidal muscular rigidity, Elevated circulating creatine kinase concentration, Oculogyric ... |
ORPHA:94093 |
| Nicolaides-Baraitser Syndrome |
|
Dry hair, High, narrow palate, Low anterior hairline, Gait ataxia, Sparse hair, Sparse medial eye... |
OMIM:601358 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Tibial... |
OMIM:304120 |
| Heyn-Sproul-Jackson Syndrome |
|
Sparse hair, Decreased body weight |
OMIM:618724 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Pes planus, Pain insensitivity, Genu recurvatum, Facial hypotonia, Kyphosis, Babins... |
ORPHA:364028 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Micrognathia, Short neck, Wide anterior fontanel, Preaxial polydactyly, Hy... |
OMIM:617925 |
| Alopecia Antibody Deficiency |
|
Recurrent respiratory infections, Abnormal eyelash morphology, Decreased circulating antibody lev... |
ORPHA:1006 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Short neck, Feeding difficulties in infancy, Coarse hair, High palate, Generalized hypotonia, Spa... |
OMIM:617506 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Microretrognathia, Pes planus, Congenital hip dislocation, Scapular winging, Hypoplas... |
OMIM:278250 |
| 2Q31.1 Microdeletion Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... |
ORPHA:251014 |
| Mucolipidosis Type Ii |
|
Hip contracture, Diastasis recti, Craniosynostosis, Limited wrist movement, Kyphosis, Inability t... |
ORPHA:576 |
| Cockayne Syndrome Type 2 |
|
Lower limb spasticity, Ataxia, Kyphosis, Flexion contracture, Gait disturbance, Scoliosis, Diffic... |
ORPHA:90322 |
| Harrod Syndrome |
|
Arachnodactyly, Kyphosis, Abnormal shoulder morphology, Joint hyperflexibility, Abnormal pelvic g... |
ORPHA:2115 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Atrophic scars, Nail dystrophy, Enamel hypoplasia, Anonychia, Sparse ... |
ORPHA:79402 |
| Gaucher Disease |
|
Elevated circulating C-reactive protein concentration, Feeding difficulties in infancy, Tremor, O... |
ORPHA:355 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Increased cir... |
OMIM:617388 |
| Moynahan Syndrome |
|
Sparse hair, Alopecia, Cachexia |
ORPHA:2574 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
| Nocardiosis |
|
Respiratory distress, Liver abscess, Anorexia, Lymphadenitis, Nonproductive cough, Conjunctivitis... |
ORPHA:31204 |
| Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Joint laxity, Microretrognathia, Short 4th metacarpal, Short clavicles |
OMIM:606220 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, Pneumonia, Cryptorchidism, Atrichia, Nail dystrophy, ... |
ORPHA:1867 |
| Chime Syndrome |
|
Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Osteolysis, ... |
ORPHA:3474 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Abnormal intervertebral disk morphology, Camptodactyly of finger, Congenital d... |
ORPHA:2311 |
| Rift Valley Fever |
|
Back pain, Skin rash, Anorexia, Paralysis, Hematemesis, Thrombocytopenia, Paraparesis, Hepatitis,... |
ORPHA:319251 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Sacral dimple, Tethered cord, Eczema, Short neck, Rectal prolapse, Optic disc coloboma, Pseudohyp... |
OMIM:617157 |
| Stickler Syndrome |
|
Skeletal muscle atrophy, Arachnodactyly, Protrusio acetabuli, Micrognathia, Kyphosis, Osteoarthri... |
ORPHA:828 |
| 3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Micrognathia, Postnatal growth retardation, Feeding difficulties, Hypertonia, Gastroesophageal re... |
ORPHA:79350 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Intestinal malrotation, Hiatus hernia, Cryptorchidism, Encopresis, Unsteady gait, Hypotonia, Feed... |
OMIM:616682 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion... |
OMIM:618022 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Skeletal muscle atrophy, Axial hypotonia, Limb joint contracture, Ataxia, Postural tremor, Seborr... |
OMIM:301072 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Kyphosis, Vocal cord paralysi... |
OMIM:211530 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Sparse scalp hair, Recurrent respiratory infections, Defective production of NFKB1-dependent cyto... |
OMIM:612132 |
| Mgat2-Cdg |
|
Osteopenia, Kyphosis, Scoliosis, Brachydactyly |
ORPHA:79329 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Abnormal fingernail morphology, Eczema, Sparse body hair |
ORPHA:1810 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormal vertebral morphology, Abn... |
ORPHA:2273 |
| Sialidosis Type 1 |
|
Skeletal muscle atrophy, Ataxia, Tremor, Kyphosis, Slurred speech, Abnormal form of the vertebral... |
ORPHA:812 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Micrognathia, Joint sti... |
ORPHA:2062 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Kyphosis, Flexion contracture, Small hand, Short foot, Hip dysplasia, Gait disturbance, Scoliosis |
ORPHA:500055 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Pneumonia, Splenomegaly, Hypotonia, Lymphadenopathy, Amelogenesis imperfecta, M... |
ORPHA:169090 |
| De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Inguinal hernia, Decreased muscle mass, Lipodystrophy, Kyphos... |
ORPHA:2962 |
| Nail-Patella Syndrome |
|
Back pain, Ridged nail, Biceps aplasia, Lumbar hyperlordosis, Glomerulonephritis, Spina bifida, C... |
OMIM:161200 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Pes planus, Scapular winging, Arachnodactyly, Craniosyno... |
OMIM:616914 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Intestinal pseudo-obstruction, Intestinal perforation, Gastrointestinal dysmotility, Ragged-red m... |
OMIM:603041 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Increased red blood cell count, Restlessness, Sinusitis, Ataxia, Pneumonia, ... |
ORPHA:68 |
| Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H... |
ORPHA:1546 |
| Hennekam Syndrome |
|
Recurrent respiratory infections, Camptodactyly of finger, Sparse axillary hair, Malabsorption, P... |
ORPHA:2136 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Inguinal hernia, Osteomyelitis, Hypopigmentatio... |
ORPHA:565 |
| Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
| Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Facial palsy, Absent eyelashes, Cleft palate, Sparse hair, Failure to t... |
ORPHA:2316 |
| Behçet Disease |
|
Myositis, Anorexia, Pulmonary embolism, Abnormal pyramidal sign, Infectious encephalitis, Acne, A... |
ORPHA:117 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Knee flexion contra... |
OMIM:603387 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Hypotonia, Feeding difficulties, High palate, Dystonia, Sparse hair |
OMIM:614105 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Macroglossia, Scoliosis |
ORPHA:79107 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
| Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Sparse hair |
OMIM:617073 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
| Singleton-Merten Syndrome 1 |
|
Osteopenia, Waddling gait, Hypoplastic distal radial epiphyses, Coxa valga, Hip dislocation, Oste... |
OMIM:182250 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Single tra... |
OMIM:617527 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Abnormal curvature of the v... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Abnormal curvature of the v... |
ORPHA:353277 |
| Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Velopharyngeal insuffi... |
OMIM:129400 |
| Wilson Disease |
|
Poor motor coordination, Osteomalacia, Tremor, Hypoesthesia, Osteoarthritis, Rigidity, Osteoporos... |
OMIM:277900 |
| Noonan Syndrome 14 |
|
Curly hair, Scapular winging, Short neck, Sparse eyebrow, High, narrow palate, Kyphosis, Cryptorc... |
OMIM:619745 |
| Cardiofaciocutaneous Syndrome 2 |
|
Curly hair, Absent eyebrow, Fine hair, High palate, Sparse hair |
OMIM:615278 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Ataxia, Tremor, Kyphosis, Flexion contracture, Dysmetria, Intention tremor |
OMIM:212065 |
| Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Synophrys, Hypotonia, Chronic c... |
OMIM:619636 |
| Mednik Syndrome |
|
Death in infancy, Jejunal atresia, Death in childhood, Neonatal death, Volvulus, Microcolon |
OMIM:609313 |
| Marfanoid Habitus With Situs Inversus |
|
Hyperextensibility of the finger joints, Genu recurvatum, Arachnodactyly, Kyphosis, Scoliosis |
OMIM:609008 |
| Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Brittle hair, Lipoatrophy, Abnormal hair morphology, Abnorma... |
ORPHA:2963 |
| Desbuquois Syndrome |
|
Camptodactyly of finger, Short neck, Abnormal eyelash morphology, Aplasia/Hypoplasia of the abdom... |
ORPHA:1425 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Recurrent skin infections, Anal fissure, Glomerulonephritis, Foot joint contracture, Flexion cont... |
ORPHA:79408 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Inguinal hernia, Cryptorchidism, Pyloric stenosis, Flexion contracture, Elbow flexion contracture... |
OMIM:614438 |
| Alg1-Cdg |
|
Kyphosis, Limitation of joint mobility, Scoliosis |
ORPHA:79327 |
| Alg12-Cdg |
|
Sandal gap, Ulnar deviation of the wrist, Proximal placement of thumb, Micrognathia, Long fingers... |
ORPHA:79324 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Skeletal muscle atrophy, Congenital muscular torticollis, Arachnodactyly, Camp... |
ORPHA:2215 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Failure to thrive, Psoriasiform dermatitis, Severe B lymphocytopenia, Decreased response to growt... |
ORPHA:293978 |
| Glycogen Storage Disease Ic |
|
Stomatitis, Cyclic neutropenia, Chronic pancreatitis, Recurrent upper respiratory tract infection... |
OMIM:232240 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Exaggerated startle response, Edema of the dorsum of fee... |
ORPHA:521426 |
| Mcdonough Syndrome |
|
Micrognathia, Kyphosis, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis, Bilatera... |
ORPHA:2471 |
| Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Recurrent respiratory infecti... |
OMIM:614941 |
| Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Pancreatitis... |
OMIM:155310 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Short neck, Feeding difficulties in infancy, Tremor, Synophrys, High palate, Gastroesophageal ref... |
ORPHA:280633 |
| 19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Cachexia, Supernumerary nipple, Cryptorchidism, Fine hair, Feed... |
ORPHA:217346 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... |
OMIM:306400 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Skin rash, Eosinophilia, Pustule, Myocarditis, Cough, Dyspnea, Hepatitis, ... |
ORPHA:139402 |
| Scarf Syndrome |
|
Inguinal hernia, Diastasis recti, Short neck, Cryptorchidism, Hepatocellular adenoma, Abnormal fo... |
ORPHA:3134 |
| Localized Scleroderma |
|
Skeletal muscle atrophy, Fasciitis, Abnormal skin adnexa morphology, Abnormality on pulmonary fun... |
ORPHA:90289 |
| Mandibuloacral Dysplasia |
|
Micrognathia, Contractures of the large joints, Osteolytic defects of the distal phalanges of the... |
ORPHA:2457 |
| Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Decreased response to growth hormone stimul... |
ORPHA:1855 |
| Lymphoid Interstitial Pneumonia |
|
Crackles, Abnormality of connective tissue, Cough, Decreased DLCO, Multiple pulmonary cysts, Resp... |
ORPHA:79128 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Decreased circulating ceruloplasmin concentration, Conjunctivitis, Hypoalbuminemia, Ery... |
OMIM:242150 |
| Distal Renal Tubular Acidosis |
|
Osteomalacia, Paralysis, Rickets, Increased susceptibility to fractures, Reduced bone mineral den... |
ORPHA:18 |
| Smith-Mccort Dysplasia 2 |
|
Hyperlordosis, Platyspondyly, Hypoplasia of the odontoid process, Short neck |
OMIM:615222 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Skeletal muscle atrophy, Abnormal large intestine morphology, Cachexia, Hyp... |
ORPHA:109 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Pancytopenia, Thin bony cortex, Short stature, Small for gestational ag... |
OMIM:613658 |
| Iniencephaly |
|
Omphalocele, Spina bifida, Hyperlordosis, Congenital diaphragmatic hernia, Absent vertebra, Spina... |
ORPHA:63259 |
| Alg9-Cdg |
|
Microretrognathia, Lower limb spasticity, Torticollis, Ulnar deviation of the hand, Rhizomelia, H... |
ORPHA:79328 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Pes planus, Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Partial absence o... |
ORPHA:476126 |
| Cleft Velum |
|
Cleft soft palate, Oral-pharyngeal dysphagia, Velopharyngeal insufficiency, Nasal regurgitation, ... |
ORPHA:99772 |
| Pelvis-Shoulder Dysplasia |
|
Back pain, Lumbar hyperlordosis, Spina bifida occulta |
OMIM:169550 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Choreoathetosis, Progressive spastic quadriplegia, Aspiration pneumonia, Dystonia, Neonatal hypot... |
ORPHA:431361 |
| Kid Syndrome |
|
Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ... |
ORPHA:477 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Optic disc pallor, Ataxia, Hypotonia, Feeding difficulties, Left ventricular noncompaction, Myocl... |
OMIM:619167 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter |
OMIM:614096 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Axial hypotonia, Epistaxis, Highly arched eyebrow, Short neck, Abnormal hair pattern, Cryptorchid... |
ORPHA:495818 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Abnormal circulating interleukin concentration, Lymphadenitis, Salmonella osteomyelitis, Pneumonia |
ORPHA:319552 |
| Orofaciodigital Syndrome Viii |
|
High palate, Recurrent aspiration pneumonia, Cleft palate |
OMIM:300484 |
| Satoyoshi Syndrome |
|
Hyperlordosis, Abnormal hair morphology, Sparse or absent eyelashes, Hypoplasia of the ovary, Abn... |
ORPHA:3130 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:616816 |
| Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Anal atresia, Persistent cloaca |
OMIM:615709 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Skeletal muscle atrophy, Feeding difficulties in infancy, Cryptorchidism, Hypotonia, Truncal obes... |
ORPHA:127 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Small intestinal dysmotility, Apnea, Kyphosis, Hypotonia, Feeding difficulties, ... |
OMIM:619482 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Ataxia, Nail dystrophy, Bone marrow hypocellularity, Sparse hair, Failure to thrive, Or... |
OMIM:616353 |
| Turnpenny-Fry Syndrome |
|
Thoracic kyphoscoliosis, Sparse scalp hair, Lumbar hyperlordosis, Torticollis, Facial hypotonia, ... |
OMIM:618371 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Facial palsy, Spinal rigidity, Kyphosis, Ragged-red muscle fibers... |
OMIM:615084 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Small cervical vertebral bodies, Recurrent respiratory infections, Apnea, Supernumerary nipple, T... |
ORPHA:397715 |
| Hurler-Scheie Syndrome |
|
Camptodactyly of finger, Micrognathia, Joint stiffness, Contracture of the distal interphalangeal... |
OMIM:607015 |
| Microphthalmia, Lenz Type |
|
Camptodactyly of finger, Hyperlordosis, Cryptorchidism, Kyphosis, Optic disc coloboma, Self-injur... |
ORPHA:568 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Failure to thrive, Intestinal malrotation, Hiatus hernia, Esopha... |
ORPHA:2538 |
| Costello Syndrome |
|
Deep-set nails, Curly hair, Thin nail, Rhabdomyosarcoma, Short neck, Concave nail, Pyloric stenos... |
OMIM:218040 |
| Sarcoidosis |
|
Abnormal nasal mucosa morphology, Increased T cell count, Abnormal lung morphology, Uveitis, Tubu... |
ORPHA:797 |
| Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Pneumonia, Asplenia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Immo... |
OMIM:244400 |
| Roifman-Chitayat Syndrome |
|
Pneumonia, Short neck, Optic atrophy, Arthritis, Umbilical hernia |
OMIM:613328 |
| Nijmegen Breakage Syndrome |
|
Anal stenosis, Sinusitis, Autoimmune hemolytic anemia, Dysgammaglobulinemia, Rhabdomyosarcoma, Re... |
OMIM:251260 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... |
OMIM:233710 |
| Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Highly arched eyebrow, Short neck, Synophrys, Hypotonia, Sparse hair, Thic... |
OMIM:609460 |
| Branchiooculofacial Syndrome |
|
Facial palsy, Supernumerary nipple, Short neck, Malrotation of colon, Cryptorchidism, Pyloric ste... |
OMIM:113620 |
| Pfeiffer Syndrome |
|
Hyperlordosis, Short neck |
ORPHA:710 |
| Lissencephaly Due To Lis1 Mutation |
|
Axial hypotonia, EEG with changes in voltage, Tetraplegia, Hypsarrhythmia, Opisthotonus, Progress... |
ORPHA:95232 |
| 3Mc Syndrome |
|
Diastasis recti, Supernumerary nipple, Hyperlordosis, Bilateral cryptorchidism, Highly arched eye... |
ORPHA:293843 |
| Sifrim-Hitz-Weiss Syndrome |
|
Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short femoral neck, Short clavicl... |
OMIM:617159 |
| Chronic Graft Versus Host Disease |
|
Fasciitis, Anorexia, Flexion contracture, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Alo... |
ORPHA:99921 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
| Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Increased hepatitis B virus... |
ORPHA:90003 |
| Oculodentodigital Dysplasia |
|
Neurogenic bladder, Dry hair, Slow-growing hair, Ataxia, Paraparesis, Uveitis, Cleft palate, Fine... |
OMIM:164200 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Pain insensitivity, Sandal gap, Single transverse palmar crease, Tapered finger... |
OMIM:617061 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... |
OMIM:233690 |
| Familial Pancreatic Carcinoma |
|
Back pain, Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functio... |
ORPHA:1333 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping toe, Single transverse palmar crease, Kyphosis, Inability to walk,... |
ORPHA:464738 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Inguinal hernia, Sparse scalp hair, Hyperactivity, Eczema, Short neck, Large for gest... |
OMIM:607721 |
| Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair... |
OMIM:224750 |
| Coffin-Siris Syndrome |
|
Hypoplastic fifth toenail, Sparse scalp hair, Thick eyebrow, Hyperactivity, Aggressive behavior, ... |
ORPHA:1465 |
| Emanuel Syndrome |
|
Sacral dimple, Congenital hip dislocation, Torticollis, Congenital diaphragmatic hernia, Microgna... |
OMIM:609029 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... |
OMIM:620138 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Sparse hair, Blepharitis, Sparse ... |
OMIM:618535 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... |
OMIM:616300 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Hyperlordosis, Kyphosis, Hypotonia, Gait ataxia, Scoliosis |
OMIM:617011 |
| Crimean-Congo Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Increased circulating IgG level, Le... |
ORPHA:99827 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Abnormal lung l... |
OMIM:614114 |
| Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Osteomalacia, Recurrent fractures, Joint stiffness, Micrognathia, Kyphosis, Clonus, Hip dislocati... |
ORPHA:534 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia |
OMIM:600740 |
| Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Squared iliac bones... |
OMIM:258480 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Pes planus, Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex ... |
OMIM:617143 |
| Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Micrognathia, Kyphosis, Narrow pal... |
ORPHA:193 |
| Monosomy 22 |
|
Aplasia of the thymus, Seborrheic dermatitis, Short neck, Synophrys, Hypochromic microcytic anemi... |
ORPHA:96123 |
| Fanconi-Bickel Syndrome |
|
Rickets, Osteomalacia |
OMIM:227810 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Normocytic anemia, Skin rash, Pneumonia, Hemiparesis, Normochromic a... |
ORPHA:247691 |
| Marfan Syndrome |
|
Osteopenia, Pes planus, Skeletal muscle atrophy, Arthralgia/arthritis, Arachnodactyly, Protrusio ... |
ORPHA:558 |
| Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Facial palsy, Sparse eyebrow, High, narrow palate, Optic atrophy, EEG... |
OMIM:230740 |
| C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Lipodystrophy, Paraproteinemia, Decreased circulating c... |
ORPHA:329918 |
| Cystic Fibrosis |
|
Nasal polyposis, Meconium ileus, Reduced forced expiratory volume in one second, Reduced forced v... |
OMIM:219700 |
| 2P15P16.1 Microdeletion Syndrome |
|
Pes planus, Lower limb spasticity, Sandal gap, Camptodactyly of finger, Facial palsy, Tapered fin... |
ORPHA:261349 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Broad-based gait, Ataxia, Cryptorchidism, Dysmetria, Truncal obesity, Dysdiadoch... |
OMIM:616541 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Decreased muscle mass, Small for gestational age, Decreased response to growth hormone stimulatio... |
ORPHA:96182 |
| Cowden Syndrome |
|
Ataxia, Kyphosis, Bone cyst, Macroglossia, Palmoplantar keratoderma, Scoliosis, Brachydactyly |
ORPHA:201 |
| Addison Disease |
|
Hypoparathyroidism, Normocytic anemia, Orthostatic hypotension, Primary testicular failure, Nause... |
ORPHA:85138 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Scoliosis, Prominent... |
OMIM:619557 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:129490 |
| Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis,... |
ORPHA:552 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... |
ORPHA:2968 |
| Langer Mesomelic Dysplasia |
|
Lumbar hyperlordosis |
OMIM:249700 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Pes planus, Arachnodactyly, Sandal gap, Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Cam... |
OMIM:617602 |
| Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Liver abscess, Severe pe... |
ORPHA:678 |
| Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
| Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Micrognathia, Elbow dislocation, Pa... |
ORPHA:2554 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Xerostomia, Enlarged... |
ORPHA:79078 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Wide anterior fontanel, Sacral dimple, Kyphosis, Micrognathia |
OMIM:618272 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Proximal placement of thumb |
OMIM:615433 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Orthostatic hypotension, Neurogenic bladder, Spastic paraplegia, Distal sensory impairment, Gait ... |
OMIM:263570 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Kyphoscoliosis, Short neck, Sparse eyebrow, Punctate vertebral calcifications, ... |
OMIM:302960 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Spinal rigidity, Kyphosis, Ragged-red muscle fibers, Myopathy, Ge... |
ORPHA:352447 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter |
OMIM:613752 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Inguinal hernia, Femoral hernia, Hiatus hernia, Pyloric stenosis, Myocardit... |
ORPHA:3342 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Septo-optic dysplasia, Anterior pituitary hypoplasia, Synophrys, Low anterior hairline, Sparse ha... |
OMIM:619841 |
| Craniolenticulosutural Dysplasia |
|
Brittle hair, Cryptorchidism, Posterior wedging of vertebral bodies, Optic atrophy, Cleft palate,... |
OMIM:607812 |
| Shprintzen Omphalocele Syndrome |
|
Omphalocele, Neonatal respiratory distress, Lumbar hyperlordosis, Kyphosis, Hypotonia, Scoliosis,... |
OMIM:182210 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... |
OMIM:602400 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Splenomegaly, Sclerosing cholangitis, Bil... |
OMIM:607626 |
| Familial Renal Glucosuria |
|
Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria |
ORPHA:69076 |
| Acromesomelic Dysplasia 1 |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Thoracolu... |
OMIM:602875 |
| Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
| Glycogen Storage Disease Vii |
|
Increased muscle glycogen content, Increased variability in muscle fiber diameter, Gout |
OMIM:232800 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Platyspondyly, Lumbar hyperlordosis, Short neck |
OMIM:612813 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Spinal rigidity, Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dyst... |
OMIM:613150 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Scarring, Abnormal tongue morphology, Chronic diarrhea, R... |
ORPHA:158668 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Flexion contracture, Nail dystrophy, Nail dysplasia, Erythroderma, Sparse hair |
OMIM:242300 |
| Arteriosclerosis, Severe Juvenile |
|
Anemia, Gastric ulcer, Dysplasia of second lumbar vertebra |
OMIM:208060 |
| Aredyld Syndrome |
|
Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Scoliosis, Sparse body ha... |
ORPHA:1133 |
| Bathing Suit Ichthyosis |
|
Alopecia, Multiple joint contractures, Impaired temperature sensation, Nail dystrophy, Erythroder... |
ORPHA:100976 |
| Lamellar Ichthyosis |
|
Recurrent respiratory infections, Sparse hair, Erythroderma, Chronic otitis media, Abnormality of... |
ORPHA:313 |
| Cranioectodermal Dysplasia |
|
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology, Abnormal dental enamel ... |
ORPHA:1515 |
| Gm1-Gangliosidosis, Type I |
|
Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bodies, Hypertonia, Scoliosis, Beaki... |
OMIM:230500 |
| Arboleda-Tham Syndrome |
|
Respiratory distress, Bilateral cryptorchidism, Gastroesophageal reflux, Conjunctivitis, Generali... |
OMIM:616268 |
| Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Adenomatous colonic polyposis, Colon can... |
OMIM:608615 |
| Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Scoliosis, Brachydactyly |
OMIM:613819 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Apnea, Gastroesophageal reflux, Aspiration pneumonia, Hypoventilation, Cryptorchidism, Abnormalit... |
ORPHA:438213 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Thoracolumbar scoliosis, Short neck, Bilateral cryptorchidism, Recurrent pneumonia, Optic disc co... |
OMIM:300472 |
| Alstrom Syndrome |
|
Pes planus, Abnormality of the hand, Kyphosis, Hyperostosis frontalis interna, Scoliosis |
OMIM:203800 |
| Frontorhiny |
|
Pericallosal lipoma, Lumbar hyperlordosis, Camptodactyly of finger, Widow's peak, Cleft palate, S... |
ORPHA:391474 |
| Restrictive Dermopathy 1 |
|
Limb joint contracture, Rocker bottom foot, Kyphoscoliosis, Micrognathia, Ankylosis, Wide anterio... |
OMIM:275210 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
| Postencephalitic Parkinsonism |
|
Resting tremor, Camptocormia, Involuntary movements, Akinesia, Rigidity, Kyphosis, Babinski sign,... |
ORPHA:97349 |
| Cysticercosis |
|
Calcification of muscles, Somatic sensory dysfunction, Ataxia, Iridocyclitis, Spinal arachnoid cy... |
ORPHA:1560 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thyroid hypoplasia, Thoracic scoliosis, Absent nipple, Aplasia of the thymus, Facial palsy, Recur... |
OMIM:620186 |
| Primrose Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Ataxia, Joint hypermobility, Metatarsus adductus, Kypho... |
OMIM:259050 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Inguinal hernia, Broad-based gait, Highly arched eyebrow, Large for gestational age, Pulmonary ar... |
OMIM:280000 |
| Asthma, Short Stature, And Elevated Iga |
|
Asthma, Increased circulating IgA level |
OMIM:208600 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Lumbar hyperlordosis, Short neck |
ORPHA:171866 |
| Cockayne Syndrome B |
|
Ataxia, Tremor, Kyphosis, Limitation of joint mobility, Osteoporosis, Ivory epiphyses of the phal... |
OMIM:133540 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, Leukocytosis, H... |
OMIM:612840 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Anterior hypopituitarism, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:181 |
| Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Nasogastric tube feed... |
OMIM:106260 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Impaired distal proprioception, Ragged-red muscle fibers, Gait atax... |
ORPHA:70595 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, Micrognathia, Lower limb asymmetry, Kyphosis, 2-3 toe syndactyly, Postaxia... |
ORPHA:404440 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Enamel hypoplasia |
OMIM:613576 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia, Highly arched eyebrow, Short neck, Cryptorchidism, Splenomegaly... |
OMIM:613563 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Angular cheilitis, Sparse axillary hair, Sparse eyebrow, Leu... |
OMIM:613102 |
| Miller-Dieker Lissencephaly Syndrome |
|
Omphalocele, Sacral dimple, Inguinal hernia, Failure to thrive, Progressive spastic paraplegia, C... |
OMIM:247200 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Kyphosis, Hypotrophy of the small hand muscles, Hip dislocation,... |
OMIM:610443 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Spastic tetraplegia, Hypertonia, Pneumonia, Tetraplegia |
OMIM:608033 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Atelectasis, Hypoxemia, Aspirati... |
ORPHA:70588 |
| Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Decreased muscle mass, Pseudoepiphyses of the metacarpals, Singl... |
OMIM:194190 |
| Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Dry hair, Ataxia, Abnormal auditory evoked ... |
OMIM:216400 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... |
ORPHA:99889 |
| Timothy Syndrome |
|
Pulmonary arterial hypertension, Bronchitis, Pneumonia, Hypotonia |
OMIM:601005 |
| Myhre Syndrome |
|
Vertebral fusion, Overlapping toe, Ataxia, Joint stiffness, Short neck, Short toe, Limitation of ... |
OMIM:139210 |
| Fontaine Progeroid Syndrome |
|
High, narrow palate, Synophrys, Hypoplasia of the abdominal wall musculature, Low anterior hairli... |
OMIM:612289 |
| Complement Factor B Deficiency |
|
Peritonitis, Pneumonia, Decreased circulating complement factor B concentration |
OMIM:615561 |
| Doors Syndrome |
|
Respiratory distress, Adrenal hyperplasia, Hemivertebrae, Low anterior hairline, High palate, Gas... |
ORPHA:79500 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Inguinal hernia, Failure to thrive, Anterior pituitary hypoplasia, Cryptorchidism, Hemivertebrae,... |
OMIM:151050 |
| Trisomy 9P |
|
Sacral dimple, Bilateral single transverse palmar creases, Short neck, Kyphosis, Scoliosis, Clino... |
ORPHA:236 |
| Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Metaphyseal widening, Rickets, Genu valgum, Myopathy, Hypophosphatemic r... |
OMIM:219800 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Short neck, Hemivertebrae, Obesity, Abnormal form of the vertebral bodies, Spa... |
ORPHA:2234 |
| Aapoaiv Amyloidosis |
|
Abnormality of the gastrointestinal tract, Back pain, Abnormal lung morphology, Paraproteinemia, ... |
ORPHA:439232 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Large for gestational age, Sparse eyebrow... |
ORPHA:457359 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Absent eyebrow, Absent nipple, Brittle hair, Eczema, Sparse eyelashes, Conc... |
OMIM:305100 |
| Revesz Syndrome |
|
Aplastic anemia, Ataxia, Nail pits, Fine hair, Hypertonia, Bone marrow hypocellularity, Nail dyst... |
OMIM:268130 |
| Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair, Hypotonia, Ankle flexion contracture |
OMIM:619985 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Ataxia, Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow |
OMIM:616819 |
| Leprosy |
|
Absent eyebrow, Alopecia, Skeletal muscle atrophy, Epistaxis, Impaired temperature sensation, Dys... |
ORPHA:548 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Sparse eyelashes, Sparse eyebrow, Cryptorch... |
OMIM:613026 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral se... |
ORPHA:96169 |
| Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Single transverse palmar cr... |
OMIM:216340 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Small for gestational age, Sparse eyelashes, Kyphosc... |
OMIM:268400 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Hypoplastic toenails, Synophrys, Glossopto... |
ORPHA:444077 |
| Zimmermann-Laband Syndrome 2 |
|
Macroglossia, Kyphosis, Short neck |
OMIM:616455 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus... |
ORPHA:79083 |
| Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly |
OMIM:113300 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Cervical kyphosis, Short neck, Tapered finger, Small hand, Short clavicles |
ORPHA:401923 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Sparse hair, Small for gestational age, Camptodactyly of finger, Kyphoscoliosis |
OMIM:610756 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Dif... |
OMIM:255125 |
| Erythema Elevatum Diutinum |
|
Skin rash, Increased circulating antibody level |
ORPHA:90000 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Joint laxity, Hepatosplenomegaly, Growth delay, Drumstick terminal phalanges, Feeding difficultie... |
ORPHA:541423 |
| Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Spina bifida occulta, Sparse body hair, Scoliosis |
ORPHA:177 |
| Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Sparse body hair, Abnormal testis morphology, Pili torti, Apla... |
ORPHA:202 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis, Micrognathia |
ORPHA:77300 |
| Trisomy 13 |
|
Kyphosis, Postaxial hand polydactyly, Abnormal pelvic girdle bone morphology, Ectrodactyly, Scoli... |
ORPHA:3378 |
| Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology, Palmoplantar keratoderma, Ataxia |
ORPHA:324737 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Splenomeg... |
ORPHA:59303 |
| Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
| 3C Syndrome |
|
Finger syndactyly, Micrognathia, Missing ribs, Short neck, Kyphosis, Hemivertebrae, Hand polydact... |
ORPHA:7 |
| Trichodental Dysplasia |
|
Brittle hair, Odontodysplasia, Slow-growing hair, Fine hair, Sparse hair |
OMIM:601453 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Long foot, Long palm, Scoliosis |
OMIM:300676 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
| Mucopolysaccharidosis, Type Ii |
|
Short neck, Kyphosis, Split hand, Flexion contracture, Macroglossia, Tracheobronchomalacia, Pes c... |
OMIM:309900 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Abnormal stomach morphology, Neonatal asphyxia, Dyspnea, Wheezing, Abnormal... |
ORPHA:141127 |
| Floating-Harbor Syndrome |
|
Joint laxity, 11 pairs of ribs, Brachydactyly, Ivory epiphyses of the distal phalanges of the han... |
OMIM:136140 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Kyphosis, Hip dislocation, Short neck |
OMIM:608776 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short uvula, Cleft palate, Fine hair, High palate, Pulmonary hypoplasia, Nail dysplasia, Sparse h... |
OMIM:614091 |
| Mercury Poisoning |
|
Respiratory distress, Anorexia, Tremor, Dyspnea, Episodic abdominal pain, Interstitial pneumoniti... |
ORPHA:330021 |
| Microphthalmia, Syndromic 1 |
|
Lumbar hyperlordosis, Aganglionic megacolon, Kyphoscoliosis, Aggressive behavior, High, narrow pa... |
OMIM:309800 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size |
ORPHA:2348 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the lymphatic syste... |
ORPHA:69735 |
| Lethal Congenital Contracture Syndrome 1 |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, P... |
OMIM:253310 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Lower limb dysmetria, Kyphoscoliosis, Hyperlordosis, Hypotonia, Granuloma, High palate... |
ORPHA:363700 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Ileal atresia, Abdominal distention, Peritoni... |
OMIM:619351 |
| Hamamy Syndrome |
|
Hypoparathyroidism, Inguinal hernia, Abnormal number of hair whorls, Sparse eyelashes, Microcytic... |
OMIM:611174 |
| Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Ovarian neoplasm |
ORPHA:50944 |
| Opitz Gbbb Syndrome |
|
Omphalocele, Enlarged ovaries, Inguinal hernia, Congenital diaphragmatic hernia, Feeding difficul... |
ORPHA:2745 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death, Microcolon |
OMIM:619362 |
| Lelis Syndrome |
|
Yellow nails, Absent lower eyelashes, Furrowed tongue, Nail dystrophy, Sparse hair, Abnormal toen... |
ORPHA:140936 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Sacral dimple, Micrognathia, Short neck, Kyphosis, Mesomelia, Scoliosis, Camptodactyl... |
OMIM:616894 |
| 17Q11 Microdeletion Syndrome |
|
Osteopenia, Abnormal central motor function, Rhabdomyosarcoma, Bowing of the legs, Kyphosis, Oste... |
ORPHA:97685 |
| Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse hair, Sparse eyebrow |
OMIM:619989 |
| Infantile Nephropathic Cystinosis |
|
Rickets |
ORPHA:411629 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... |
OMIM:300869 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Sparse scalp hair, Brittle hair, Hyperlordosis, Fine hair, Sparse or absent eyelashes, Adenoma se... |
ORPHA:3353 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Short neck, Kyphosis, Elbow flexion contracture, Genu valgum, Knee flexion contr... |
OMIM:619194 |
| Autosomal Recessive Robinow Syndrome |
|
Micrognathia, Short neck, Vertebral segmentation defect, Clinodactyly of the 5th finger, Bilatera... |
ORPHA:1507 |
| Focal Dermal Hypoplasia |
|
Ridged nail, Brittle hair, Congenital diaphragmatic hernia, Anteriorly placed anus, Absent finger... |
OMIM:305600 |
| Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti |
OMIM:607903 |
| Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge... |
ORPHA:60025 |
| Cystic Fibrosis |
|
Recurrent respiratory infections, Sinusitis, Nasal polyposis, Meconium ileus, Malabsorption, Redu... |
ORPHA:586 |
| Short Syndrome |
|
Inguinal hernia, Alopecia, Lipodystrophy, Abnormal dental enamel morphology, Poor appetite, Weigh... |
ORPHA:3163 |
| Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Arachnodactyly, Camptodactyly of finger, Talipes, Joint stiffness, Metat... |
ORPHA:2461 |
| Micro Syndrome |
|
Micrognathia, Joint stiffness, Kyphosis, Scoliosis, Spasticity |
ORPHA:2510 |
| Hardikar Syndrome |
|
Cholangitis, Vomiting, Cleft soft palate, Thoracolumbar scoliosis, Abdominal pain, Pulmonary arte... |
OMIM:301068 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Small for gestational age, Ataxia, Cryptorchidism, Hypotonia, Gout, High palate, Sparse hair |
OMIM:300661 |
| Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Ataxia, Abnormal dental enamel morphology, Hamartoma of tongue, Pancreati... |
ORPHA:2750 |
| Dermoodontodysplasia |
|
Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse body hair |
ORPHA:1660 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Inter... |
OMIM:620296 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Omphalocele, Nausea and vomiting, Intestinal malrotati... |
ORPHA:2241 |
| Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, High, narrow palate, Cry... |
ORPHA:2108 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Inguinal hernia, Recurrent respiratory infections, Absence of Stensen duct, De... |
OMIM:129900 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
| Proteus Syndrome |
|
Decreased muscle mass, Abnormal finger morphology, Abnormal form of the vertebral bodies, Clinoda... |
ORPHA:744 |
| Marshall Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Osteoarthritis, Cleft palate, High palate, Sparse hair |
ORPHA:560 |
| Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse body hair |
ORPHA:1897 |
| Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy... |
ORPHA:913 |
| Pallister-Killian Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Flexion contracture, Anteriorly placed anus, Apneic ... |
OMIM:601803 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Sparse hair, EEG abnormality, Hypoplastic nipples, Small nail |
OMIM:273400 |
| Cardiofacioneurodevelopmental Syndrome |
|
Micrognathia, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:619123 |
| Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
| Ifap Syndrome 2 |
|
Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Nail dystrophy, ... |
OMIM:619016 |
| Encephalitis Lethargica |
|
Parkinsonism, Bowel incontinence, Tremor, Upper limb muscle weakness, Increased circulating antib... |
ORPHA:83600 |
| Zttk Syndrome |
|
Craniosynostosis, Kyphosis, Flexion contracture, Small hand, Hemivertebrae, Short foot, Scoliosis... |
OMIM:617140 |
| Orofaciodigital Syndrome Iii |
|
Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum, Myoclonus |
OMIM:258850 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Coxa valga, Absent frontal sinuses, Tapered finger, Kyphosis, Hemivertebrae, Spas... |
OMIM:301040 |
| Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Hypotonia, Feeding difficulties, Gastroesophageal reflux, Constipation, High palate, Joint contra... |
OMIM:619934 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Multiple joint contractures, Structural foot defor... |
ORPHA:464306 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Spinal canal stenosis, Fused ce... |
ORPHA:1724 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Lower limb spasticity, Spastic tetraparesis, Kyphosis, Babinski sign, Positional foot deformity, ... |
ORPHA:171629 |
| Cranioectodermal Dysplasia 2 |
|
Inguinal hernia, Sparse eyelashes, Cholangitis, Short neck, Sparse eyebrow, Splenomegaly, Recurre... |
OMIM:613610 |
| Nablus Mask-Like Facial Syndrome |
|
Sparse eyelashes, Highly arched eyebrow, Short neck, Absent eyelashes, Cryptorchidism, Sparse eye... |
OMIM:608156 |
| Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Kyphosis, Postaxial hand polydactyly, Scoliosis, B... |
ORPHA:2075 |
| Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Shor... |
OMIM:225500 |
| Alkaptonuria |
|
Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Thickened Achill... |
OMIM:203500 |
| Kabuki Syndrome 1 |
|
Hemolytic anemia, Anal stenosis, Intestinal malrotation, Highly arched eyebrow, Malabsorption, Au... |
OMIM:147920 |
| Scarf Syndrome |
|
Inguinal hernia, Diastasis recti, Short neck, Cryptorchidism, Low anterior hairline, Abnormal for... |
OMIM:312830 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ankle flexion contracture, Tapered finger, Kyphosis, Short toe, Short foot, Gait disturbance, Sco... |
ORPHA:464311 |
| Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
| Tempi Syndrome |
|
Transudative pleural effusion, Hypoxemia, Increased circulating IgG level, Increased hematocrit, ... |
ORPHA:284227 |
| Osteogenesis Imperfecta, Type Xx |
|
Kyphoscoliosis, Highly arched eyebrow, Narrow palate, High palate, Sparse hair, Vertebral compres... |
OMIM:618644 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Scapular winging, Impulsivity, Abnormality of hair texture, Hyperlordosis, Aggressive behavior, S... |
ORPHA:73223 |
| Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Increased circulating IgG4 level, Abnormal pituitary gland morphology, Vocal... |
ORPHA:64744 |
| Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Pes planus, Joint laxity, Speech apraxia, Ataxia, Kyphoscoliosis, Tremor, Kyphosis... |
OMIM:300967 |
| Cholera |
|
Achlorhydria, Abdominal pain, Diarrhea, Tachypnea, Vomiting, Abdominal cramps, Aspiration pneumon... |
ORPHA:173 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Arachnodactyly |
ORPHA:261222 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:604377 |
| Orofaciodigital Syndrome Ix |
|
High palate, Recurrent aspiration pneumonia, Cleft palate, Camptodactyly |
OMIM:258865 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Broad toe, Brachydactyly, Limited elbow extension and supination, Rhizomelia, Sacral dimple, Micr... |
OMIM:180700 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Olmsted Syndrome 2 |
|
Cheilitis, Flexion contracture of digit, Sparse hair, Woolly hair, Alopecia universalis |
OMIM:619208 |
| Neurofibromatosis Type 1 |
|
Ataxia, Recurrent fractures, Joint stiffness, Kyphosis, Genu valgum, Slender long bone, Paresthes... |
ORPHA:636 |
| Yellow Fever |
|
Low back pain, Increased circulating interleukin 6 concentration, Acute pancreatitis, Skin rash, ... |
ORPHA:99829 |
| Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Diarrhea, Interstitial pneumonitis, Vomiting, Granulocytope... |
ORPHA:454831 |
| Monosomy 9Q22.3 |
|
Rhabdomyosarcoma, Short neck, Palmar pits, Kyphosis, Plantar pits, Joint hyperflexibility, Abnorm... |
ORPHA:77301 |
| Menke-Hennekam Syndrome 1 |
|
Inguinal hernia, Tethered cord, Cryptorchidism, Flexion contracture, Recurrent upper respiratory ... |
OMIM:618332 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Patchy alopecia |
OMIM:617763 |
| Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Pancytopenia, Ataxia, Splenomegaly, Abnormal pulmonary intersti... |
ORPHA:77261 |
| Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia |
ORPHA:405 |
| Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Foot joint contracture, Short neck, Sparse eyebrow, Cryptorchidism, Fine hair, S... |
ORPHA:444072 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair, Hypotonia, Scoliosis |
OMIM:619910 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Papilledema, Skin rash, Elevated c... |
ORPHA:91500 |
| Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Osteomalacia, Stippled calcification of the shoulder, Myocardial calcifi... |
ORPHA:51608 |
| Multiple Endocrine Neoplasia, Type I |
|
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... |
OMIM:131100 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Recurrent respiratory infections, Abnormal fingernail morphology, Fine hair, Keratoconjunctivitis... |
ORPHA:1806 |
| Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Facial palsy, Ataxia, Tremor, Distal amyotrophy, Difficulty walking, Increas... |
OMIM:164310 |
| Congenital Analbuminemia |
|
Lipodystrophy, Small for gestational age, Obesity, Increased alpha-globulin, Increased circulatin... |
ORPHA:86816 |
| Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Abnormal hair whorl, Premature graying of hair, Abnormality of the pulmo... |
ORPHA:79474 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Feeding difficulties, Chronic constipation, Generalized hypotonia, Aspiration pneumonia, Failure ... |
OMIM:616430 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Kyphosis, Spastic tetraplegia, Limb hypertonia |
OMIM:619909 |
| Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Micrognathia, Long fingers, Wide anterior... |
OMIM:617746 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
| Subcorneal Pustular Dermatosis |
|
Pustule, Increased circulating antibody level, Rheumatoid arthritis |
ORPHA:48377 |
| Craniolenticulosutural Dysplasia |
|
Brittle hair, Posterior wedging of vertebral bodies, Coarse hair, High palate, Scoliosis, Sparse ... |
ORPHA:50814 |
| Rett Syndrome, Congenital Variant |
|
Pes planus, Kyphosis, Chorea, Athetosis, Talipes equinovarus, Scoliosis, Apraxia, Spasticity |
OMIM:613454 |
| Hutchinson-Gilford Progeria Syndrome |
|
Limitation of movement at ankles, Joint stiffness, Coxa valga, Limited wrist movement, Osteoarthr... |
ORPHA:740 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Single transverse palmar crease, Clonus, Abnormal curvature of the vertebral column, H... |
OMIM:619475 |
| Teebi-Shaltout Syndrome |
|
Slow-growing hair, Highly arched eyebrow, High, narrow palate, Low anterior hairline, Cleft palat... |
OMIM:272950 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
| Cockayne Syndrome |
|
Skeletal muscle atrophy, Somatic sensory dysfunction, Ataxia, Action tremor, Kyphosis, Inability ... |
ORPHA:191 |
| Scalp-Ear-Nipple Syndrome |
|
Sparse axillary hair, Sparse pubic hair, Pyelonephritis, Fine hair, Multiple lipomas, Patchy alop... |
OMIM:181270 |
| Restrictive Dermopathy |
|
Thoracic kyphoscoliosis, Multiple joint contractures, Camptodactyly of finger, Short nail, Aplasi... |
ORPHA:1662 |
| Mend Syndrome |
|
Sacral dimple, Overlapping toe, Broad hallux, Micrognathia, Long fingers, Wide anterior fontanel,... |
ORPHA:401973 |
| Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter |
OMIM:619173 |
| Restrictive Dermopathy 2 |
|
Microretrognathia, Overtubulated long bones, Short clavicles |
OMIM:619793 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing... |
OMIM:604536 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Decreased testicular size, Eunuchoid habitus, Cryptorchidism, Cleft palate, Sparse body hair, Hyp... |
ORPHA:432 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Inguinal hernia, Failure to thrive, Intestinal malrotation, Congenital diaphr... |
OMIM:600001 |
| Renpenning Syndrome 1 |
|
Brittle hair, Cleft palate, High palate, Scoliosis, Camptodactyly, Sparse hair, Spasticity, Joint... |
OMIM:309500 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Sparse hair, Polycystic ovaries |
OMIM:268020 |
| Rodrigues Blindness |
|
Sparse hair, Nasal flaring, Fine hair |
OMIM:268320 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hemoglobin A1c, Sparse eyebrow, Flexion contracture, Generalized lipodystrophy, High pal... |
OMIM:619127 |
| 16Q24.3 Microdeletion Syndrome |
|
Proximal placement of thumb, Micrognathia, Kyphosis, Hip dysplasia, Scoliosis |
ORPHA:261250 |
| Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
| Acromegaly |
|
Cerebral palsy, Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, De... |
ORPHA:963 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati... |
ORPHA:276152 |
| Somatomammotropinoma |
|
Cerebral palsy, Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, De... |
ORPHA:314769 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Sparse hair, Alopecia, Abnormal fingernail morphology, Neoplasm of the lung |
ORPHA:659 |
| Atelis Syndrome 2 |
|
Pes planus, Sacral dimple, Single transverse palmar crease, Micrognathia, Kyphosis, Dysmetria, Cl... |
OMIM:620185 |
| Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Smoot... |
OMIM:257980 |
| Parietal Foramina With Cleidocranial Dysplasia |
|
Short clavicles |
OMIM:168550 |
| Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Pes planus, Single tran... |
OMIM:303600 |
| Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:613451 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Flexion contracture, Nail dystrophy, Nail dysplasia, Sparse hair, Alope... |
OMIM:614594 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Abnormal dental enamel morphology, Supernumerary nipple, Hyperconvex nail, Spar... |
ORPHA:1071 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, Congenital diaphragmatic hernia, Talipes c... |
ORPHA:818 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Skeletal muscle atrophy, Kyphosis, Scoliosis, Genu varum |
ORPHA:1969 |
| Fucosidosis |
|
Decreased muscle mass, Kyphosis, Abnormal pyramidal sign, Spastic tetraplegia, Anterior beaking o... |
ORPHA:349 |
| 1P36 Deletion Syndrome |
|
11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Lower limb asymmetry, Kyphosis, Hemip... |
ORPHA:1606 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Adrenal hyperplasia, Pneumonia, Vomiting, Macroorchidism, Failure to thrive |
ORPHA:90790 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse hair, Failure to thrive, Sparse eyelashes, Fine hair |
OMIM:257850 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Tremor, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Clonus |
OMIM:619424 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th... |
OMIM:618223 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Macroglossia, Kyphosis, Scoliosis |
ORPHA:261144 |
| Orofaciodigital Syndrome I |
|
Dry hair, Alopecia, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Tongue nodules, Lobulate... |
OMIM:311200 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Microcolon, Intestinal malrotation, Hepatic failure |
OMIM:619431 |
| Lafora Disease |
|
Ataxia, Inability to walk, Hypsarrhythmia, Gait disturbance, Myoclonus, Erratic myoclonus, Spasti... |
ORPHA:501 |
| Roberts Syndrome |
|
Progressive flexion contractures, Short neck, Cryptorchidism, Cleft palate, Knee flexion contract... |
ORPHA:3103 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Aplastic clavicle, Micromelia, Short neck, Congenital diaphragmatic hernia... |
OMIM:616546 |
| Cowden Syndrome 5 |
|
Micrognathia, Kyphosis, Palmoplantar hyperkeratosis, Scoliosis, Intention tremor |
OMIM:615108 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter |
OMIM:615595 |
| Aspartylglucosaminuria |
|
Joint laxity, Kyphosis, Hypoplastic frontal sinuses, Spasticity, Macroglossia, Platyspondyly, Spo... |
OMIM:208400 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Sacral dimple, Broad-based gait, Ataxia, Tapered finger, Abnormal toe morphology, ... |
ORPHA:268261 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Impaired pain sensation, Micrognathia, Kyphosis, Increased femoral anteversion, Scoliosis |
OMIM:619005 |
| Mend Syndrome |
|
Microretrognathia, Sacral dimple, Overlapping toe, Broad hallux, Micrognathia, Long fingers, Kyph... |
OMIM:300960 |
| Cowden Syndrome 6 |
|
Micrognathia, Kyphosis, Palmoplantar hyperkeratosis, Scoliosis, Intention tremor |
OMIM:615109 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyelashes, Sparse eyebrow, Feeding difficulties, Small nail, Sparse hair, High anterior ha... |
OMIM:250410 |
| Triosephosphate Isomerase Deficiency |
|
Skeletal muscle atrophy, Tremor, Kyphosis, Unsteady gait, Myopathy, Spasticity |
OMIM:615512 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Lipoatrophy, Absent eyelashes, Premature graying of hair, Sparse hair, Emphysema,... |
ORPHA:363618 |
| Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia |
OMIM:617809 |
| Pmm2-Cdg |
|
Respiratory distress, Multiple joint contractures, High palate, Hypoalbuminemia, Vomiting, Aplasi... |
ORPHA:79318 |
| Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis, Clinodactyly, Radial deviation of finger, Micrognathia |
OMIM:609944 |
| Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Sparse eyebrow |
OMIM:224900 |
| Cerebrocostomandibular Syndrome |
|
Clinodactyly of the 5th finger, Kyphosis, Tracheomalacia, Micrognathia |
ORPHA:1393 |
| Floating-Harbor Syndrome |
|
11 pairs of ribs, Speech apraxia, Short metacarpal, Brachydactyly, Broad-based gait, Kyphoscolios... |
ORPHA:2044 |
| Glycogen Storage Disease Xii |
|
Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting, Short neck |
OMIM:611881 |
| Neurocardiofaciodigital Syndrome |
|
Optic disc pallor, Small for gestational age, Sparse eyebrow, High palate, Sparse hair, Failure t... |
OMIM:619869 |
| 15Q14 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261190 |
| Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Kyphosis, Flexion contracture, Unsteady gait, Scoliosis, Difficulty walk... |
ORPHA:90324 |
| Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Brittle hair, Absent nipple, Sparse hair, Absent hair |
OMIM:614940 |
| Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... |
ORPHA:99103 |
| Meconium Ileus |
|
Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
| Sotos Syndrome |
|
Joint laxity, Hip contracture, Pes planus, Sacrococcygeal teratoma, Ankle flexion contracture, Cr... |
ORPHA:821 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy |
OMIM:616538 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P... |
ORPHA:99104 |
| Ablepharon Macrostomia Syndrome |
|
Omphalocele, Absent eyebrow, Camptodactyly of finger, Abnormal hair pattern, Absent eyelashes, Fi... |
ORPHA:920 |
| Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Diarrhea, Weight... |
ORPHA:677 |
| Cranioectodermal Dysplasia 3 |
|
Short nail, Broad nail, Fine hair, Sparse hair, Peripheral pulmonary artery stenosis |
OMIM:614099 |
| Ablepharon-Macrostomia Syndrome |
|
Omphalocele, Ventral hernia, Absent eyebrow, Absent eyelashes, Anteriorly placed anus, Hypoplasti... |
OMIM:200110 |
| Hawkinsinuria |
|
Sparse hair, Restlessness, Failure to thrive |
OMIM:140350 |
| Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Abnormal morphology of right ventricular trabeculae, Sparse... |
OMIM:601214 |
| Scalp-Ear-Nipple Syndrome |
|
Sparse hair, Abnormal fingernail morphology, Breast aplasia, Pyelonephritis |
ORPHA:2036 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis |
OMIM:619244 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Knee flexion contracture, Coarse hair, Scoliosis, Sparse hair |
OMIM:118650 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,... |
ORPHA:1010 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys... |
OMIM:617088 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis |
OMIM:300942 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Fine hair, Choreoathetosis, Abnormality of extrapyramidal motor function, Dystonia, Spa... |
OMIM:241080 |
| Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
| Ramon Syndrome |
|
Kyphosis, Juvenile rheumatoid arthritis, Scoliosis |
OMIM:266270 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Sparse axillary hair, Enlarged polycystic ovaries... |
ORPHA:90796 |
| Lymphedema-Distichiasis Syndrome |
|
Kyphosis, Micrognathia |
OMIM:153400 |
| Alström Syndrome |
|
Pes planus, Thoracic scoliosis, Somatic sensory dysfunction, Ataxia, Incoordination, Kyphosis, Sh... |
ORPHA:64 |
| Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Dystrophic fingernails, Sparse body hair, Dys... |
OMIM:150400 |
