Immunodeficiency 40 |
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Lymphopenia |
OMIM:616433 |
Immunodeficiency 8 |
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Lymphopenia |
OMIM:615401 |
Hypouricemia, Renal, 1 |
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Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ... |
OMIM:220150 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
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Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... |
OMIM:310468 |
Pseudoachondroplasia |
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Genu varum, Abnormal form of the vertebral bodies, Metaphyseal irregularity, Abnormality of femor... |
ORPHA:750 |
Okt4 Epitope Deficiency |
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Abnormal T cell morphology |
OMIM:613949 |
Dysspondyloenchondromatosis |
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Kyphoscoliosis, Generalized joint laxity, Joint dislocation, Platyspondyly, Metaphyseal enchondro... |
ORPHA:85198 |
Immunodeficiency 14B, Autosomal Recessive |
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Thrombocytosis, Leukocytosis, Inflammation of the large intestine, B lymphocytopenia, Monocytosis... |
OMIM:619281 |
Mueller-Weiss Syndrome |
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Sclerosis of foot bone, Abnormality of the os naviculare pedis, Limitation of movement at ankles,... |
ORPHA:566943 |
Brachydactylous Dwarfism, Mseleni Type |
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Brachytelomesophalangy, Hip osteoarthritis, Abnormal femoral head morphology, Knee osteoarthritis... |
ORPHA:2619 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... |
OMIM:613092 |
Spondyloepiphyseal Dysplasia Tarda |
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Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Abnormal ... |
ORPHA:93284 |
Hip Dysplasia, Beukes Type |
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Abnormality of bone mineral density, Abnormality of epiphysis morphology, Kyphosis, Abnormality o... |
ORPHA:2114 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hepatomegaly, Neutropenia, Decreased lymphocyte apoptosis, Leukemia, Monocytosis, Lymphoprolifera... |
OMIM:614470 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormality of the vertebral column, Abnormal intervertebral disk morphology, Abnormality of the ... |
ORPHA:99642 |
Immunodeficiency 18 |
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Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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B lymphocytopenia, Neutropenia, Pancytopenia, Leukopenia, Bronchiectasis, Lymphadenitis, Partial ... |
OMIM:618986 |
Chondrocalcinosis Due To Apatite Crystal Deposition |
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Costal cartilage calcification, Chondrocalcinosis, Costochondral pain, Osteoarthritis of the smal... |
OMIM:118610 |
Renal Failure, Progressive, With Hypertension |
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Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc... |
OMIM:161900 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Upper limb undergrowth, Short metatarsal, Hypoplastic pelvis, Broad palm, Gait disturbance, Pectu... |
ORPHA:93351 |
Multiple Epiphyseal Dysplasia, Beighton Type |
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Abnormal hip joint morphology, Abnormal lumbar spine morphology, Thoracic scoliosis, Antalgic gai... |
ORPHA:166011 |
Progressive Pseudorheumatoid Dysplasia |
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Genu varum, Joint contracture of the hand, Camptodactyly of finger, Enlargement of the proximal f... |
OMIM:208230 |
Congenital Megacalycosis |
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Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
Immunodeficiency 57 With Autoinflammation |
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B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, T lymphocytopenia, Decrea... |
OMIM:618108 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level... |
OMIM:615285 |
Epiphyseal Dysplasia, Multiple, 6 |
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Irregular epiphyses, Small epiphyses, Arthralgia of the hip, Flat capital femoral epiphysis, Abno... |
OMIM:614135 |
Nephrotic Syndrome, Type 6 |
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Focal segmental glomerulosclerosis, Tubulointerstitial fibrosis, Proteinuria, Nephrotic syndrome |
OMIM:614196 |
Osteochondrosis Of The Metatarsal Bone |
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Sclerosis of foot bone, Abnormality of the third metatarsal bone, Chondritis, Osteochondrosis, Ar... |
ORPHA:564003 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Broad palm, Upper limb undergrowth, Metaphyseal dysplasia, Capitate-hamate fusion, Pectus carinat... |
OMIM:271650 |
Pseudoachondroplasia |
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Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... |
OMIM:177170 |
Epiphyseal Dysplasia, Multiple, 1 |
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Irregular epiphyses, Small epiphyses, Hip osteoarthritis, Irregular vertebral endplates, Avascula... |
OMIM:132400 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... |
OMIM:613101 |
Osteochondrosis Of The Tarsal Bone |
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Tarsal stippling, Abnormal tarsal ossification, Chondritis, Tarsal sclerosis, Arthritis, Flatteni... |
ORPHA:563991 |
Lymphoproliferative Syndrome, X-Linked, 2 |
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Hepatomegaly, Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Decreased circu... |
OMIM:300635 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
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Abnormality of the vertebral column, Cervical platyspondyly, Abnormal ilium morphology, Genu varu... |
ORPHA:93314 |
Peutz-Jeghers Syndrome |
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Rectal prolapse, Neoplasm of the small intestine, Gastrointestinal hemorrhage, Abdominal pain, Me... |
ORPHA:2869 |
Hypochondroplasia |
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Spinal canal stenosis, Genu varum, Abnormality of femur morphology, Abnormality of the elbow, Bow... |
ORPHA:429 |
Nephronophthisis 18 |
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Renal tubular atrophy, Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney dis... |
OMIM:615862 |
Multiple Epiphyseal Dysplasia Type 1 |
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Abnormal acetabulum morphology, Gait disturbance, Genu varum, Arthralgia of the hip, Short long b... |
ORPHA:93308 |
Immunodeficiency 76 |
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B lymphocytopenia, Lymphadenopathy, T lymphocytopenia, Splenomegaly, Chronic diarrhea, B-cell lym... |
OMIM:619164 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
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Reduced arm span, Genu varum, Arthralgia of the hip, Abnormality of the knee, Fragmentation of th... |
ORPHA:166002 |
Visceral Myopathy 2 |
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Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... |
OMIM:619350 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Red... |
OMIM:619374 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
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Eczema, Myelodysplasia, Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, ... |
OMIM:616871 |
Squamous Cell Carcinoma Of The Anal Canal |
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Rectal prolapse, Neoplasm of the rectum, Neoplasm of the lung, Anal canal squamous cell carcinoma... |
ORPHA:424019 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
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Abnormality of the elbow, Pectus carinatum, Finger syndactyly, Abnormal rib morphology, Clinodact... |
ORPHA:3268 |
Severe Combined Immunodeficiency, X-Linked |
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Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pne... |
OMIM:300400 |
Liebenberg Syndrome |
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Metaphyseal widening, Brachydactyly, Radially deviated wrists, 2-3 finger syndactyly, Abnormality... |
OMIM:186550 |
Reticular Dysgenesis |
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Lack of T cell function, Leukopenia, Impaired T cell function, Congenital agranulocytosis, Hypopl... |
OMIM:267500 |
Volvulus Of Midgut |
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Neonatal intestinal obstruction, Abdominal distention, Volvulus, Intestinal malrotation, Constipa... |
OMIM:193250 |
Interstitial Nephritis, Karyomegalic |
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Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Stage 5 chronic kidney disease, Glycos... |
OMIM:614817 |
Dystonia 31 |
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Dysphagia, Arm dystonia, Writer's cramp, Craniofacial dystonia, Difficulty walking, Generalized d... |
OMIM:619565 |
Epiphyseal Dysplasia, Multiple, 2 |
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Irregular epiphyses, Small epiphyses, Flattened knee epiphyses, Genu varum, Knee osteoarthritis, ... |
OMIM:600204 |
Radial Hemimelia |
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Deviation of the hand or of fingers of the hand, Abnormality of the trapezium, Aplasia/Hypoplasia... |
ORPHA:93321 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
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Leukocytosis, Bloody diarrhea, Anemia, Ulcerative colitis |
OMIM:619398 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
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Hip osteoarthritis, Short thumb, Waddling gait, Broad hallux, Osteochondritis Dissecans, Osteoart... |
OMIM:165800 |
Familial Calcium Pyrophosphate Deposition |
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Abnormal intervertebral disk morphology, Chondrocalcinosis, Joint dislocation, Arthritis, Calcifi... |
ORPHA:1416 |
Autoimmune Lymphoproliferative Syndrome |
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Neoplasm of the skin, Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alpha... |
ORPHA:3261 |
Ulnar Hemimelia |
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Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... |
ORPHA:93320 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
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Recurrent pancreatitis, Abdominal pain, Splenomegaly |
OMIM:118830 |
Desbuquois Dysplasia 1 |
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Monkey wrench femoral neck, Genu varum, Talipes equinovarus, Short metatarsal, Short 1st metacarp... |
OMIM:251450 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Hypertension, Nephronophthisis, Tubulointerstitial fibrosis, Renal cortico... |
OMIM:256100 |
Tubulointerstitial Nephritis With Uveitis |
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Reversible renal failure, Anterior uveitis, Panuveitis, Uveitis, Glomerulonephritis, Acute tubulo... |
OMIM:607665 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia |
OMIM:200900 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
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Myoglobinuria, Tubulointerstitial nephritis, Elevated circulating long chain fatty acid concentra... |
ORPHA:228302 |
Osteoarthritis With Mild Chondrodysplasia |
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Heberden's node, Hip osteoarthritis, Schmorl's node, Irregular vertebral endplates, Beaking of ve... |
OMIM:604864 |
Solitary Rectal Ulcer Syndrome |
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Bloody mucoid diarrhea, Bloody diarrhea, Rectal prolapse, Tenesmus, Stercoral ulcer, Intermittent... |
ORPHA:209964 |
Medullary cystic kidney disease 2 |
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Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... |
OMIM:603860 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
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Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy |
OMIM:602114 |
Immunodeficiency 60 And Autoimmunity |
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Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, C... |
OMIM:618394 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
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Renal tubular atrophy, Hypertension, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortic... |
OMIM:174000 |
Myelolymphatic Insufficiency |
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Hyposegmentation of neutrophil nuclei, Leukopenia |
OMIM:310350 |
Diastrophic Dysplasia |
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Costal cartilage calcification, Irregular epiphyses, Hip contracture, Talipes equinovarus, Short ... |
OMIM:222600 |
Epiphyseal Dysplasia, Multiple, 5 |
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Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Prematu... |
OMIM:607078 |
Trehalase Deficiency |
|
Vomiting, Abdominal distention, Malabsorption, Diarrhea, Abdominal pain |
ORPHA:103909 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
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Eczema, Inflammation of the large intestine, Dysphagia, Neutropenia, Colitis, Decreased circulati... |
OMIM:608809 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Eczema, Abnormal intestine morphology, Tubulointerstitial nephritis, Neutropenia, Neutropenia in ... |
ORPHA:37042 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneumococcal antib... |
OMIM:617006 |
Familial Avascular Necrosis Of Femoral Head |
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Flattened femoral head, Hip osteoarthritis, Abnormal femoral neck/head morphology, Limited hip mo... |
ORPHA:86820 |
Hyperlipoproteinemia, Type Id |
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Hepatomegaly, Colitis, Splenomegaly |
OMIM:615947 |
Hirschsprung Disease |
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Nausea and vomiting, Aganglionic megacolon, Functional abnormality of the gastrointestinal tract,... |
ORPHA:388 |
Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
Epiphyseal Dysplasia, Multiple, 3 |
|
Irregular epiphyses, Small epiphyses, Abnormal hip joint morphology, Limited knee extension, Dela... |
OMIM:600969 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
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Thoracic hypoplasia, Knee dislocation, Small epiphyses, Hip contracture, Coronal cleft vertebrae,... |
OMIM:618363 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
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Abnormality of epiphysis morphology, Short thorax, Platyspondyly, Osteoarthritis, Micromelia |
ORPHA:93283 |
Iga Nephropathy, Susceptibility To, 2 |
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Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... |
OMIM:613944 |
Brachyolmia Type 1, Hobaek Type |
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Flat acetabular roof, Intervertebral space narrowing, Sclerotic foci of metaphyses of the elbow, ... |
OMIM:271530 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular acetabular roof, Pectus carinatum, Kyphoscoliosis, Platyspondyly, Coxa vara, Flared met... |
OMIM:184252 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... |
OMIM:202700 |
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
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Short middle phalanx of finger, Cone-shaped epiphysis, Delayed epiphyseal ossification, Short 1st... |
OMIM:182255 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Eczema, Lymphadenopathy, Lymphadenitis, Abscess, Splenomegaly, Granuloma, Crohn's disease, Hepato... |
OMIM:618935 |
Beukes Hip Dysplasia |
|
Flat capital femoral epiphysis, Wide proximal femoral metaphysis, Avascular necrosis of the capit... |
OMIM:142669 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Broad ischia, Coxa valga, Pectus carinatum, Metaphyseal widening, Metaphyseal irregularity, Platy... |
OMIM:609052 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Femoral bowing, Small epiphyses, Genu varum, Tibial bowing, Metaphyseal cupping, Pear-shaped vert... |
OMIM:602111 |
Immunodeficiency 70 |
|
B lymphocytopenia, Decreased circulating total IgA, Celiac disease, Decreased circulating total I... |
OMIM:618969 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Feeding difficulties, Hypoplasia of the thymus, Reduced antigen-specific T cell prolifera... |
OMIM:617241 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Stomatitis, Lymphadenopathy, Absence of CD8-positive T cells, Hepatosplenomegaly, Lymphocytosis, ... |
ORPHA:911 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Congenital bilateral hip dislocation, Increased susceptibility to fractures, Osteopenia, Kyphosis... |
OMIM:130060 |
Craniosynostosis, Adelaide Type |
|
Hallux valgus, Shortening of all distal phalanges of the fingers, Craniosynostosis, Carpal bone m... |
OMIM:600593 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Uveitis, Type I diabetes mell... |
OMIM:614700 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Flattened metacarpal heads, Hip osteoarthritis, Platyspondyly, Flattened metatarsal heads, Osteoa... |
OMIM:271600 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... |
OMIM:606966 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Talipes equinovarus, Limited elbow extension, Elbow flexion contracture, Pectus carinatum, Radiou... |
ORPHA:93359 |
Osteoarthritis Susceptibility 3 |
|
Joint stiffness, Osteoarthritis, Osteoarthritis of the first carpometacarpal joint, Osteoarthriti... |
OMIM:607850 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Hodgkin lymphoma, B... |
OMIM:300853 |
Mesomelic Dysplasia, Kantaputra Type |
|
Tarsal synostosis, Abnormality of the humerus, Ulnar deviation of finger, Cubitus valgus, Synosto... |
ORPHA:1836 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Tarsal synostosis, Abnormality of pelvic girdle bone morphology, Abnormally shaped carpal bones, ... |
ORPHA:968 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium |
OMIM:616868 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... |
OMIM:604387 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Abnormal acetabulum morphology, Gait disturbance, Abnormal hip joint morphology, Delayed proximal... |
ORPHA:93311 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Epiphyseal dysplasia, Slender finger,... |
ORPHA:93360 |
Brachyolmia Type 1, Toledo Type |
|
Precocious costochondral ossification, Intervertebral space narrowing, Gait disturbance, Increase... |
OMIM:271630 |
Hereditary Mixed Polyposis Syndrome |
|
Colorectal polyposis, Rectal polyposis, Thyroid carcinoma, Neoplasm of the rectum, Adenomatous co... |
ORPHA:157794 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Irregular epiphyses, Shield chest, Hip osteoarthritis, Hypoplastic iliac wing, Platyspondyly, Kyp... |
OMIM:313400 |
Kienbock Disease |
|
Abnormality of the wrist, Osteochondritis Dissecans, Osteoarthritis, Limitation of joint mobility |
ORPHA:97332 |
Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Mucoid diarrhea, Decreased proportion of class-switched memo... |
OMIM:615767 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Elevated circulating cre... |
ORPHA:567544 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Vomiting, Nausea, Abdominal distention, Malabsorption, Dyspepsia, Chronic diarrhea, Abnormal smal... |
ORPHA:103907 |
Arthritis, Sacroiliac |
|
Pruritus, Sacroiliac arthritis |
OMIM:108100 |
Cranio-Osteoarthropathy |
|
Abnormality of tibia morphology, Eczema, Abnormality of the knee, Abnormal cortical bone morpholo... |
ORPHA:1525 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hip osteoarthritis, Pseudoepiphyses of the metacarpals, Delayed ossification of carpal bones, Pre... |
OMIM:105835 |
Desmoid Tumor |
|
Neoplasm of the skin, Desmoid tumors, Malabsorption, Intestinal obstruction, Gastrointestinal hem... |
ORPHA:873 |
Adult Idiopathic Neutropenia |
|
Neutropenia, Helicobacter pylori infection, Monocytosis, Increased circulating IgM level, Lymphop... |
ORPHA:2688 |
Legg-Calvé-Perthes Disease |
|
Joint dislocation, Cartilage destruction |
ORPHA:2380 |
Muir-Torre Syndrome |
|
Sebaceous gland carcinoma, Malignant genitourinary tract tumor, Benign gastrointestinal tract tum... |
OMIM:158320 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... |
OMIM:612840 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Sterile arthritis, Thrombocytosis, Sterile abscess, Acne, Arthritis, Hepatosplenomeg... |
OMIM:604416 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Colitis, Infectious encephalitis, Decreased proportion of c... |
OMIM:616098 |
Developmental Dysplasia Of The Hip 2 |
|
Arthritis, Coxa valga, Hip dysplasia, Hip osteoarthritis |
OMIM:615612 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Intestinal obstruction, Crohn's disease, Recurrent aphthous ... |
OMIM:266600 |
Langer Mesomelic Dysplasia |
|
Abnormality of the ulna, Abnormality of epiphysis morphology, Ulnar deviation of finger, Bowing o... |
ORPHA:2632 |
Peripheral Dysostosis |
|
Joint stiffness, Clinodactyly of the 5th finger, Osteoarthritis, Brachydactyly, Cone-shaped epiph... |
ORPHA:1795 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the vertebral column, Abnormal ilium morphology, Metaphyseal dysplasia, Short ilia... |
ORPHA:93316 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Abnormality of the vertebral column, Abnormal pelvis bone morphology, Osteoarthritis, Palmoplanta... |
ORPHA:2206 |
Colonic Atresia |
|
Colonic atresia, Abdominal distention |
OMIM:303650 |
Widow'S Peak Syndrome |
|
Arthralgia/arthritis, Arthralgia of the hip, Recurrent patellar dislocation, Hip osteoarthritis, ... |
OMIM:314570 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Flattened radial epiphyses, Upper limb undergrowth, Talipes equinovarus, Short metatarsal, Acromi... |
ORPHA:93307 |
Eng-Strom Syndrome |
|
Pectus excavatum, Arthritis, Camptodactyly of finger, Scoliosis, Brachydactyly |
ORPHA:1937 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Waardenburg-Shah Syndrome |
|
Abnormal intestine morphology, Aganglionic megacolon, Premature graying of hair, Abnormal eyebrow... |
ORPHA:897 |
Autoinflammation With Infantile Enterocolitis |
|
Feeding difficulties in infancy, Villous atrophy, Reduced natural killer cell activity, Anemia, S... |
OMIM:616050 |
Gastrointestinal Stromal Tumor |
|
Nausea and vomiting, Dysphagia, Neoplasm of the rectum, Gastrointestinal stroma tumor, Neoplasm o... |
ORPHA:44890 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Flat acetabular roof, Irregular vertebral endplates, Beaking of vertebral bodies, Hypoplastic ili... |
OMIM:609616 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Pneumonia... |
OMIM:607594 |
Ménétrier Disease |
|
Anorexia, Stomach cancer, Abnormal gastric mucosa morphology, Vomiting, Helicobacter pylori infec... |
ORPHA:2494 |
Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Lymphoproliferati... |
OMIM:615897 |
Mixed Connective Tissue Disease |
|
Myocarditis, Keratoconjunctivitis sicca, Hepatomegaly, Mediastinal lymphadenopathy, Pericarditis,... |
ORPHA:809 |
Scheuermann Disease |
|
Morbus Scheuermann, Osteochondrosis, Kyphosis |
OMIM:181440 |
Dysplasia Epiphysealis Hemimelica |
|
Tarsal synostosis, Flattened femoral head, Irregular epiphyses, Genu varum, Abnormality of femur ... |
ORPHA:1822 |
Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the skin, Neoplasm of the rectum, Meningioma, Adenomatous colonic polyposis, Endometr... |
ORPHA:454840 |
Spondylometaphyseal Dysplasia, East African Type |
|
Genu varum, Metaphyseal widening, Rounded epiphyses, Ovoid vertebral bodies, Coxa vara, Bell-shap... |
OMIM:611702 |
Acrocapitofemoral Dysplasia |
|
Genu varum, Short middle phalanx of finger, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
Nephronophthisis 2 |
|
Pulmonary insufficiency, Hypertension, Chronic tubulointerstitial nephritis, Nephronophthisis, St... |
OMIM:602088 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Nephropathy |
OMIM:242530 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Monkey wrench femoral neck, Genu varum, Vertebral wedging, Epiphyseal dysplasia, Platyspondyly, H... |
OMIM:617719 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... |
OMIM:612926 |
Autoimmune Polyendocrinopathy Type 3 |
|
Tubulointerstitial nephritis, Hepatitis, Decreased circulating antibody level, Type I diabetes me... |
ORPHA:227982 |
Immunodeficiency 82 With Systemic Inflammation |
|
Duodenal ulcer, Cholesteatoma, Lymphadenopathy, Hepatitis, Splenomegaly, Gastritis, Crohn's disea... |
OMIM:619381 |
Autoimmune Polyendocrinopathy Type 4 |
|
Keratoconjunctivitis sicca, Macrocytic anemia, Tubulointerstitial nephritis, Celiac disease, Apla... |
ORPHA:227990 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Abnormal intestine morphology, Lymphadenopathy, Recurrent otitis media, Splenomegal... |
OMIM:618495 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Metatropic Dysplasia |
|
Epiphyseal dysplasia, Short ribs, Halberd-shaped pelvis, Anisospondyly, Flared femoral metaphysis... |
OMIM:156530 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Psoriasiform dermatitis, Eczema, Hepatomegaly, Bronchiectasis, Lymphadenopathy, Decreased circula... |
OMIM:616100 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Monocytosis, Lymphadenopathy, Intermittent diarrhea, Neutrophilia, Hepatosplenomega... |
OMIM:619644 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Slender finger, Scoliosis, Rib fusion, Hypoplasia of the odontoid process, Vertebral se... |
OMIM:609813 |
Infantile Myofibromatosis |
|
Neoplasm of the skin, Abnormal intestine morphology, Neoplasm of the lung, Abnormal hair morpholo... |
ORPHA:2591 |
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
|
Hip dislocation, Kyphoscoliosis, Arthrogryposis multiplex congenita |
OMIM:212540 |
Myopathic Ehlers-Danlos Syndrome |
|
Talipes equinovarus, Joint contracture of the hand, Elbow flexion contracture, Contractures invol... |
ORPHA:536516 |
Chst3-Related Skeletal Dysplasia |
|
Irregular epiphyses, Intervertebral space narrowing, Small epiphyses, Abnormality of the elbow, K... |
ORPHA:263463 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Stiff neck, Coxa valga, Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly, Joint stiffne... |
OMIM:616583 |
Ganglioneuroma |
|
Colorectal polyposis, Neoplasm of the adrenal gland, Functional intestinal obstruction, Episodic ... |
ORPHA:251992 |
Caspase 8 Deficiency |
|
Eczema, Pneumonia, Lymphadenopathy, Decreased circulating IgA level, Decreased circulating IgG le... |
OMIM:607271 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Abnormal pelvis bone morphology, Abnormally ossified vertebrae, Short phala... |
ORPHA:1427 |
Leri-Weill Dyschondrosteosis |
|
Dorsal subluxation of ulna, Hypoplasia of the radius, Short toe, Limited elbow movement, Short 4t... |
OMIM:127300 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Short middle phalanx of finger, Hip osteoarthritis, Abnormality of epiphysis morphology, Short mi... |
ORPHA:63442 |
Fanconi Renotubular Syndrome 5 |
|
Hypertension, Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, Glycosuria, Aminoacidu... |
OMIM:618913 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Polyuria, Periglom... |
OMIM:619468 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Abnormal intestine morphology, Vomiting, Esophagitis, Duodenitis, Chronic diarrh... |
OMIM:619079 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Nausea and vomiting, Hepatomegaly, Anorexia, Neutropenia, Feeding difficulties, Anemia, Pancreati... |
ORPHA:79312 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Elbow ankylosis, Abnormal vertebral morphology, Hamstring contractures, Osteochondrosis, Kyphosco... |
ORPHA:96183 |
Shwachman-Diamond Syndrome |
|
Sinusitis, Eczema, Neutropenia, Pancreatic hypoplasia, Leukemia, Steatorrhea, Diabetes mellitus, ... |
ORPHA:811 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Upper limb amyotrophy, Talipes equinovarus, Kyphoscoliosis, Knee flexion contracture, Proximal mu... |
ORPHA:496689 |
Sjogren Syndrome |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis, Tubulointerstitial nephritis |
OMIM:270150 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent infection of the gastrointestinal tract, Acute lymphoblastic leukemia, Eosinophilia, Ne... |
ORPHA:486 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Inflammation of the large intestine, Intestinal obstruction, Abdominal pain,... |
ORPHA:26790 |
Spondylosis, Cervical |
|
Spondylolysis, Spina bifida occulta, Spondylolisthesis, Cervical spondylosis, Osteoarthritis |
OMIM:184300 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, Sinusitis, Inflammatory abnormality of the skin, B lymphocytopenia, Lack of T cel... |
ORPHA:277 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Colon cancer |
ORPHA:401911 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of the vertebral column, Abnormal hip joint morphology, Knee osteoarthritis, Finger d... |
ORPHA:85438 |
Parastremmatic Dwarfism |
|
Kyphosis, Genu valgum, Flexion contracture, Short neck, Scoliosis |
OMIM:168400 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Vertebral wedging, Beaking of vertebral bodies, Bowing of the long bones, Abnormal form of the ve... |
ORPHA:40 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormality of the hand, Abnormality of the metaphysis, Keratitis, Abnormality... |
ORPHA:1657 |
Roussy-Lévy Syndrome |
|
Talipes equinovarus, Urinary bladder sphincter dysfunction, Kyphoscoliosis, Genu valgum, Intrinsi... |
ORPHA:3115 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Premature osteoarthritis, Enlarged epiphyses, Platyspondyly, Epiphyseal dysplasia |
OMIM:184840 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Cervical subluxation, Irregular vertebral endplates, Pectus carinatum, Kyphoscoliosis, Avascular ... |
OMIM:184100 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Metaphyseal irregularity, Fibular overgrowth, Narrow vertebral interpedicular distanc... |
ORPHA:93352 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Bronchiectasis, Lymphadenopathy, Decreased circulating IgA ... |
OMIM:240500 |
Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
Acropectorovertebral Dysplasia |
|
Toe syndactyly, Capitate-hamate fusion, Abnormal vertebral morphology, Bifid distal phalanx of th... |
OMIM:102510 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hallux valgus, Knee dislocation, Osteoporosis, Shoulder dislocation, Hip dislocation, Thoracic sc... |
OMIM:618000 |
Iga Nephropathy, Susceptibility To, 1 |
|
Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... |
OMIM:161950 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Gastrointestinal dysmotility, Abdominal distention, Malabsorption, Ataxia, Malnutrition, Abdomina... |
OMIM:613662 |
Dyggve-Melchior-Clausen Disease |
|
Abnormality of the vertebral column, Metaphyseal dysplasia, Hypoplastic acetabulae, Epiphyseal dy... |
ORPHA:239 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Hammertoe, Dysmetria, Hyperextensible hand joints, Kyphoscoliosis, Spastic gait, Short foot, Ankl... |
OMIM:275900 |
Juvenile Polyposis Syndrome |
|
Rectal prolapse, Neoplasm of the stomach, Multiple gastric polyps, Intussusception, Duodenal aden... |
OMIM:174900 |
Omenn Syndrome |
|
B lymphocytopenia, Hepatomegaly, Erythroderma, Pneumonia, Lymphadenopathy, Hypoplasia of the thym... |
OMIM:603554 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal colic |
ORPHA:35122 |
Primary Myelofibrosis |
|
Leukocytosis, Thrombocytosis, Anorexia, Hepatomegaly, Lymphadenopathy, Hemangioma, Anemia, Spleno... |
ORPHA:824 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Atresia Of Small Intestine |
|
Vomiting, Feeding difficulties, Abdominal distention, Jejunal atresia, Intestinal malrotation, In... |
ORPHA:1201 |
Kyphomelic Dysplasia |
|
Flat acetabular roof, Anterior rib cupping, Lateral clavicle hook, Large hands, Bowing of the lon... |
ORPHA:1801 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Sinusitis, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Pneumonia, Bronchiectasis, Recurre... |
OMIM:601495 |
Syndromic Diarrhea |
|
Thrombocytosis, Bloody diarrhea, Increased mean platelet volume, Villous atrophy, Hepatic fibrosi... |
ORPHA:84064 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Abnormal ilium morphology, Irregularity of vertebral bodies, Abnormal hip joint morphology, Genu ... |
ORPHA:1159 |
Chondrocalcinosis 2 |
|
Arthropathy, Osteoarthritis, Polyarticular chondrocalcinosis |
OMIM:118600 |
Zygomycosis |
|
Sinusitis, Myocarditis, Colon perforation, Brain abscess, Neutropenia, Fasciitis, Hepatitis, Mele... |
ORPHA:73263 |
Alport Syndrome |
|
Renal tubular atrophy, Hypertension, Focal segmental glomerulosclerosis, Glomerular basement memb... |
ORPHA:63 |
Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Bone ... |
OMIM:166600 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Pectus excavatum, Osteoarthritis, Abnormal metacarpal morphology, Pectus carinatum |
ORPHA:166100 |
Cyclic Neutropenia |
|
Sinusitis, Peritonitis, Lymphadenopathy, Decreased eosinophil count, Tooth abscess, Periodontitis... |
ORPHA:2686 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Macroscopic hematuria, Elevated circulating creatinine concentration, Dysuria, Hyperuricemia, Acu... |
ORPHA:79233 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Cholangitis, Decreased specific pneumococcal antibody level, Diabetes mellitus, Decreased circula... |
ORPHA:183675 |
Bare Lymphocyte Syndrome, Type Ii |
|
Cholangitis, Agammaglobulinemia, Infectious encephalitis, Villous atrophy, Neutropenia, Biliary t... |
OMIM:209920 |
Anauxetic Dysplasia 1 |
|
Small epiphyses, Cervical subluxation, Short finger, Rhizomelia, Platyspondyly, Flared metaphysis... |
OMIM:607095 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Ankle flexion contracture, Kyphoscoliosis, Abnormality of the hand |
OMIM:616668 |
Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Short thorax, Abnormality of the metaphysis, Platyspondyly, Increased vertebral h... |
ORPHA:93304 |
Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
X-Linked Lymphoproliferative Disease |
|
Myocarditis, Inflammation of the large intestine, Lymphadenopathy, Decreased circulating antibody... |
ORPHA:2442 |
Crome Syndrome |
|
Renal tubular epithelial necrosis |
OMIM:218900 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Astrocytoma, Adenomatous colonic polyposis, Multiple gastric polyps, Papillary thyroid carcinoma,... |
ORPHA:247806 |
Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... |
OMIM:615861 |
Dyggve-Melchior-Clausen Disease |
|
Genu varum, Shield chest, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Enlargement... |
OMIM:223800 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of CD3-positive T cells, Diarrhea, Jaundice, Absent tonsils, Lymph node hypo... |
ORPHA:276 |
Slipped Femoral Capital Epiphyses |
|
Proximal femoral epiphysiolysis, Hip osteoarthritis |
OMIM:182260 |
Albers-Schönberg Osteopetrosis |
|
Abnormality of epiphysis morphology, Generalized osteosclerosis, Joint dislocation, Arthritis, Ab... |
ORPHA:53 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Pectus carinatum, Delayed ossification of carpal bones, Brachydactyly, Kyphosis |
OMIM:618392 |
Severe Canavan Disease |
|
Vomiting, Nasogastric tube feeding, Feeding difficulties, Gastrostomy tube feeding in infancy, In... |
ORPHA:314911 |
Progressive Osseous Heteroplasia |
|
Brachydactyly, Osteoarthritis, Ectopic ossification in muscle tissue, Limitation of joint mobility |
ORPHA:2762 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:247800 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Mesomelic/rhizomelic limb s... |
ORPHA:1354 |
Platyspondylic Dysplasia, Torrance Type |
|
Abnormality of the carpal bones, Genu varum, Hypoplastic scapulae, Bowing of the long bones, Shor... |
ORPHA:85166 |
Developmental And Epileptic Encephalopathy 92 |
|
Dystonia, Feeding difficulties, Ataxia, Inability to walk, Difficulty walking, Lethargy |
OMIM:617829 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Prominent interphalangeal joints, Large tarsal bones, Coronal cleft vertebrae, Beaking of vertebr... |
OMIM:215150 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... |
OMIM:142623 |
Burkitt Lymphoma |
|
Nausea and vomiting, Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the oral ca... |
ORPHA:543 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Infectious encephalitis, Erythroderma, Neutropenia, Lymphadenopathy, Reduced natura... |
ORPHA:540 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Abnormality of the knee, Abnormal sternum morphology, Cubitus valgus, Prominent calcaneus, Patent... |
ORPHA:457395 |
Metatropic Dysplasia |
|
Long thorax, Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Abno... |
ORPHA:2635 |
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Short thumb, Osteoarthritis, Brachydactyly |
ORPHA:435804 |
Mismatch Repair Cancer Syndrome 1 |
|
Neuroblastoma, Astrocytoma, Plexiform neurofibroma, Adenocarcinoma of the small intestine, Adenom... |
OMIM:276300 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Dependency on parenteral nutrition, Vomiting, Abdominal distention, Microvillus ... |
OMIM:619445 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... |
ORPHA:174 |
Igg4-Related Retroperitoneal Fibrosis |
|
Hydronephrosis, Normocytic anemia, Nephrotic syndrome, Renovascular hypertension, Membranous neph... |
ORPHA:49041 |
Neuroendocrine Neoplasm Of Appendix |
|
Nausea and vomiting, Midgut malrotation, Anorexia, Ovarian neoplasm, Constipation, Bowel urgency,... |
ORPHA:100079 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Hemolytic anemia, Anterior uveitis, Ileal ulcer, Lymphopenia, Skin rash, Thrombocytopenia, Colitis |
OMIM:616744 |
Peripheral Dysostosis |
|
Short phalanx of finger, Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
Cirrhosis, Familial |
|
Abdominal distention, Esophageal varix, Lethargy |
OMIM:215600 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Neoplasm of the lung, Esophageal neoplasm, Adenocarcinoma of the small intestine, Stomach cancer,... |
ORPHA:79501 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Atlantoaxial abnormality, Kyphoscoliosis, Shuffling gait, Broad hallux, Hypermobility of interpha... |
ORPHA:3433 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Irregular epiphyses, Small epiphyses, Metaphyseal spurs, Micromelia, Thoracic hypoplasia, Bowing ... |
OMIM:608728 |
Peritoneal Cystic Mesothelioma |
|
Menorrhagia, Peritonitis, Abdominal distention, Neoplasm, Metrorrhagia, Dyspareunia, Abdominal pa... |
ORPHA:168816 |
Senior-Loken Syndrome 9 |
|
Nephronophthisis, Tubulointerstitial nephritis, Stage 5 chronic kidney disease |
OMIM:616629 |
Talo-Patello-Scaphoid Osteolysis |
|
Synovitis, Osteolysis of talus, Enlarged joints, Short 4th metacarpal, Osteolysis of scaphoids, O... |
ORPHA:50809 |
Systemic Lupus Erythematosus 16 |
|
Nephritis |
OMIM:614420 |
Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly, Myelodysplasia |
OMIM:162830 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Brachydactyly, Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand |
OMIM:619248 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Defective T cell proliferation, Bronchiectas... |
OMIM:618534 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia,... |
OMIM:619313 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Cone-shaped epiphysis, Small hand, Delayed epiphyseal ossification, Osteoarthritis, Brachydactyly |
OMIM:618618 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Knee dislocation, Thin ribs, Irregular vertebral endplates, Tapered finger, Multiple joint disloc... |
OMIM:618395 |
Immunodeficiency 27A |
|
Leukocytosis, Enlarged mesenteric lymph node, Anorexia, Thrombocytosis, Pneumonia, Lymphadenopath... |
OMIM:209950 |
Arthrogryposis, Distal, Type 3 |
|
Distal arthrogryposis, Cutaneous finger syndactyly, Pectus excavatum, Talipes equinovarus, Ulnar ... |
OMIM:114300 |
Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Upper limb undergrowth, Short ribs, Cupped ribs, Iliac crest serration... |
ORPHA:168549 |
Osteogenesis Imperfecta, Type Xiii |
|
Pectus carinatum, Kyphoscoliosis, Osteoporosis, Dislocated radial head, Wormian bones, Platyspond... |
OMIM:614856 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Nephritis, Gout, Nephropathy, Renal insufficiency |
OMIM:162000 |
Adenocarcinoma Of The Anal Canal |
|
Rectal prolapse, Neoplasm of the rectum, Neoplasm of the lung, Neoplasm of the liver, Intestinal ... |
ORPHA:424016 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia |
OMIM:183350 |
Gastrointestinal Stromal Tumor |
|
Dysphagia, Gastrointestinal stroma tumor, Intestinal obstruction, Constipation, Neurofibromas |
OMIM:606764 |
Pelvic Organ Prolapse, Susceptibility To |
|
Bowel incontinence, Rectal prolapse |
OMIM:176780 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Gastritis, Abnormal erythrocyte morphology, Diarrhea, Folate-unresponsive m... |
ORPHA:2575 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Facial papilloma, Bronchiectasis, Lymphadenopathy, Neutropenia in prese... |
OMIM:619220 |
Atelosteogenesis, Type Ii |
|
Short greater sciatic notch, Increased intervertebral space, Short middle phalanx of finger, Tali... |
OMIM:256050 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Intervertebral space narrowing, Genu varum, Flat capital femoral epiphysis, Pectus carinatum, Irr... |
OMIM:609223 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger, Overlapping toe |
OMIM:618453 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Hepatomegaly, Eczema, Pneumonia, Lymphadenopathy, T lymphocytopenia, Splenomegaly, Otitis media, ... |
OMIM:608971 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Gait disturbance, Anorexia, Lethargy |
ORPHA:79283 |
Richieri Costa-Da Silva Syndrome |
|
Metatarsus adductus, Generalized bone demineralization, Vertebral wedging, Pectus carinatum, Beak... |
ORPHA:3101 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Rocker bottom foot, Second metatarsal posteriorly placed, Kyphoscoliosis, Osteoporosis, Arthrogry... |
OMIM:214150 |
C3 Glomerulopathy |
|
Nephrotic syndrome, Hematuria, Elevated circulating creatinine concentration, Stage 5 chronic kid... |
ORPHA:329918 |
Pauci-Immune Glomerulonephritis |
|
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Glomer... |
ORPHA:93126 |
Familial Adenomatous Polyposis |
|
Neoplasm of the gallbladder, Neoplasm of the adrenal gland, Cholangiocarcinoma, Adenomatous colon... |
ORPHA:733 |
Cap Polyposis |
|
Colorectal polyposis, Atrophic gastritis, Abdominal distention, Hematochezia, Diarrhea, Abdominal... |
ORPHA:160148 |
Osebold-Remondini Syndrome |
|
Abnormality of the vertebral column, Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplas... |
OMIM:112910 |
Stickler Syndrome, Type I |
|
Morbus Scheuermann, Pectus excavatum, Beaking of vertebral bodies, Platyspondyly, Arachnodactyly,... |
OMIM:108300 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Flat capital femoral epiphysis, Irregular vertebral endplates, Tapered finger, Kyphoscoliosis, Di... |
OMIM:612350 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Genu varum, Irregular acetabular roof, Platyspondyly, Delayed ossification... |
OMIM:617974 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... |
OMIM:277300 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... |
OMIM:619201 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Pectus carinatum, Tapered finger, Short finger, Platyspondyly, Knee flexion cont... |
OMIM:313420 |
Holt-Oram Syndrome |
|
Pectus excavatum, Short clavicles, Triphalangeal thumb, Phocomelia, Abnormal vertebral morphology... |
OMIM:142900 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... |
ORPHA:240 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits |
ORPHA:69063 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Spinal canal stenosis, Tibial bowing, Fibular bowing, Renal tubular dysfunction, Bowing of the le... |
OMIM:307800 |
Schneckenbecken Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Hypoplastic scapulae, Metaphyseal irregularity, Shor... |
OMIM:269250 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Abdominal distention, Neoplasm, Ileus, Abdominal pain |
ORPHA:168811 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Absent tonsils, Pneumonia, Lymph node hypoplasia, Aplasia of the thymus, Otitis media, Panhypogam... |
OMIM:602450 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Synovial hypertrophy, Abnormality of the hand, Abnormal hip joint morphology, Synovitis, Hip oste... |
ORPHA:85408 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Bowing of the legs, Irregular vertebral endplates, Lower limb undergrowth, Kyphoscoliosis, Acne, ... |
OMIM:612847 |
Beta-Thalassemia Intermedia |
|
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Diabetes mellitus, Jaundice, Anemia of i... |
ORPHA:231222 |
Early Myoclonic Encephalopathy |
|
Feeding difficulties, Dysphagia, Poor suck, Lethargy |
ORPHA:1935 |
Congenital Pancreatic Cyst |
|
Anorexia, Vomiting, Abdominal distention, Pancreatitis, Abdominal pain, Jaundice |
ORPHA:313906 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Esophageal stenosi... |
OMIM:615190 |
Birk-Landau-Perez Syndrome |
|
Hyperechogenic kidneys, Tubulointerstitial nephritis, Renal insufficiency |
OMIM:617595 |
Jeune Syndrome |
|
Toe syndactyly, Cone-shaped epiphysis, Abnormal sternum morphology, Abnormal clavicle morphology,... |
ORPHA:474 |
Whistling Face Syndrome, Recessive Form |
|
Shoulder flexion contracture, Talipes equinovarus, Ulnar deviation of finger, Kyphoscoliosis, Kne... |
OMIM:277720 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Kyphoscoliosis, Dysphagia, Pancreatitis |
OMIM:618230 |
Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Radial bowing, Cone-shaped epiphysis, Lun... |
OMIM:176240 |
Carney-Stratakis Syndrome |
|
Dysphagia, Gastrointestinal stroma tumor, Paraganglioma, Intestinal obstruction, Gastrointestinal... |
ORPHA:97286 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Decreased plasma free carnit... |
ORPHA:157 |
Immunodeficiency 61 |
|
Agammaglobulinemia, Recurrent otitis media, Arthritis, Attention deficit hyperactivity disorder, ... |
OMIM:300310 |
Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Peritonitis, Abdominal distention, Neoplasm, Abdominal pain, Constipation |
ORPHA:168829 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Infectious encephalitis, Neutropenia, Lymphadenopathy, Reduced natural killer cell ... |
OMIM:308240 |
Acromesomelic Dysplasia 2C |
|
Radial bowing, Single transverse palmar crease, Shortening of all proximal phalanges of the finge... |
OMIM:201250 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Methylmalonic aciduria, Stage 5 chronic kidney disease, Cardiomyopa... |
OMIM:251000 |
Blue Rubber Bleb Nevus |
|
Rectal prolapse, Hemangioma, Volvulus, Intussusception, Intestinal bleeding, Cerebellar medullobl... |
OMIM:112200 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Decreased plasma free carnit... |
ORPHA:228308 |
Nemaline Myopathy 4 |
|
Kyphoscoliosis, Waddling gait, Flexion contracture, Scapular winging, Difficulty walking |
OMIM:609285 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hypertension, Tubulointerstitial fibrosis, Renal cyst, Polycystic kidney dysplasia, Absence of re... |
OMIM:263200 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Metatarsus adductus, 2-3 toe syndactyly, Lumbar kyphosis in infancy, 4-5 toe syndactyly, Patellar... |
ORPHA:3041 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Tubulointerstitial fibrosis |
OMIM:263000 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Joint hypermobility, Osteoarthritis, Joint dislocation, Joint laxity |
OMIM:130020 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Premature epimetaphyseal fusion, Polyarticular arthritis, Synovitis, Abnormality of epiphysis mor... |
ORPHA:85435 |
Familial Adenomatous Polyposis 1 |
|
Adrenocortical carcinoma, Osteoma, Astrocytoma, Adrenocortical adenoma, Adenomatous colonic polyp... |
OMIM:175100 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Joint stiffness, Osteoarthritis, Abnormal intervertebral disk morphology, Platyspondyly |
ORPHA:1345 |
Stickler Syndrome Type 1 |
|
Abnormality of epiphysis morphology, Platyspondyly, Joint hyperflexibility, Osteoarthritis, Abnor... |
ORPHA:90653 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Abnormality of the vertebral column, Hallux valgus, Short metatarsal, Cubitus valgus, Enlarged in... |
OMIM:151200 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Hypertension, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... |
ORPHA:85450 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Arthritis |
OMIM:216950 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Nausea and vomiting, Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Pustule, Myositis, Lymphadenopathy, Acne, Arthritis, Increased inflammatory response, Crohn's dis... |
ORPHA:69126 |
Legionnaires Disease |
|
Myocarditis, Nausea and vomiting, Anorexia, Pericarditis, Infectious encephalitis, Endocarditis, ... |
ORPHA:549 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Sinusitis, Tubulointerstitial nephritis, ... |
ORPHA:183 |
Radiation Proctitis |
|
Tenesmus, Abnormality of gastrointestinal vasculature, Intestinal obstruction, Abnormal rectum mo... |
ORPHA:70475 |
Immunodeficiency 14A, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... |
OMIM:615513 |
Thoracolaryngopelvic Dysplasia |
|
Horizontal ribs, Irregular chondrocostal junctions, Irregular vertebral endplates, Hypoplastic il... |
OMIM:187760 |
Isolated Polycystic Liver Disease |
|
Feeding difficulties in infancy, Abdominal distention, Gastrointestinal hemorrhage, Gastroesophag... |
ORPHA:2924 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Cutaneous finger syndactyly, Kyphoscoliosis, Syndactyly, Aplasia/Hypoplasia of toe, Duplication o... |
OMIM:600384 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Cervical ribs, Osteoarthritis, Congenital pseudoarthrosis of the clavicle |
ORPHA:66630 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, High palate, Cleft palate, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the ... |
OMIM:612541 |
Scholte Syndrome |
|
Kyphoscoliosis, Small hand, Acromicria, Short foot, Micropenis, Patellar hypoplasia |
OMIM:300977 |
Endosteal Hyperostosis, Worth Type |
|
Diaphyseal thickening, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Clavicula... |
ORPHA:2790 |
Arthrogryposis, Distal, Type 1A |
|
Hip contracture, Talipes equinovarus, Joint contracture of the hand, Stiff shoulders, Camptodacty... |
OMIM:108120 |
Diastrophic Dysplasia |
|
Abnormal form of the vertebral bodies, Symphalangism affecting the phalanges of the hand, Proxima... |
ORPHA:628 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Endometrial carcinom... |
ORPHA:447877 |
Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Kyphoscoliosis, Osteoporosis, Ataxia, Increased bone ... |
OMIM:136300 |
Homocystinuria Without Methylmalonic Aciduria |
|
Ataxia, Vomiting, Lethargy |
ORPHA:622 |
Immunodeficiency 52 |
|
Bronchiectasis, Lymphadenopathy, Coombs-positive hemolytic anemia, Increased proportion of gamma-... |
OMIM:617514 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Metaphyseal irregularity, Streaky metaphyseal sclerosis, Caudal interpedicular narrowing, Carpal ... |
OMIM:603546 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:603909 |
Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Abnormal intestine morphology, Neutropenia, Minimal ch... |
ORPHA:1830 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Chondrocalcinosis 1 |
|
Osteoarthritis, Chondrocalcinosis |
OMIM:600668 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Flared, irregular rib ends, Platyspondyly, Coxa vara, Short palm, Micromelia |
ORPHA:168555 |
Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Rectal polyposis, Astrocytoma, Neoplasm of the stomach, Adenomatous colonic... |
ORPHA:220460 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Abnormality of neuronal migration, Dysphagia, Microlissencephaly, Feeding difficulties, 4-layered... |
ORPHA:89844 |
Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Ovarian neoplasm, Neoplasm of the central nervous system, Neoplasm of the lu... |
ORPHA:83469 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Nephrotic syndrome, Infectious encephali... |
ORPHA:139402 |
Cryoglobulinemia, Familial Mixed |
|
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn... |
OMIM:123550 |
Peutz-Jeghers Syndrome |
|
Rectal prolapse, Gastrointestinal carcinoma, Neoplasm of the pancreas, Uterine neoplasm, Breast c... |
OMIM:175200 |
Adiposis Dolorosa |
|
Abdominal distention, Painful subcutaneous lipomas, Constipation |
OMIM:103200 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Kyphoscoliosis, Micropenis, Rocker bottom foot, Camptodactyly of finger |
OMIM:610756 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
Schnitzler Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Arthritis, Lymphoma, Splenomegaly, Increased... |
ORPHA:37748 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology, Hyperuricemia |
OMIM:609886 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Hypoplastic iliac wing, Kyphosis, Increased circulating IgE level, Hip dysplasia, Short distal ph... |
ORPHA:1858 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Cryptorchidism, Recurrent skin infections, Monocytosis |
OMIM:610680 |
Mirage Syndrome |
|
Adrenal insufficiency, Myelodysplasia, Leukopenia, Anemia, Hypoplastic spleen, Chronic diarrhea, ... |
OMIM:617053 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Pectus carinatum, Vertebral wedging, Kyphoscoliosis, Genu valgum, Bell-shaped thorax, Irregular f... |
OMIM:255710 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Pear-shaped vertebrae, Knee osteoa... |
ORPHA:93356 |
Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Contractural Arachnodactyly, Congenital |
|
Distal arthrogryposis, Hip contracture, Talipes equinovarus, Patent ductus arteriosus, Limited el... |
OMIM:121050 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy, Abnormality of the endocrine system, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Synovial hypertrophy, Flattened metacarpal heads, Constrictive pericarditis, Congenital finger fl... |
OMIM:208250 |
Syndactyly, Type V |
|
Cutaneous finger syndactyly, 4-5 toe syndactyly, Joint contracture of the hand, 3-4 toe syndactyl... |
OMIM:186300 |
Hyperekplexia 4 |
|
Distal arthrogryposis, Adducted thumb, Talipes equinovarus, Kyphoscoliosis, Flexion contracture, ... |
OMIM:618011 |
Kniest Dysplasia |
|
Gait disturbance, Hip contracture, Coronal cleft vertebrae, Flattened, squared-off epiphyses of t... |
OMIM:156550 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent infection of the gastrointestinal tract, Myelodysplasia, Bronchiectasis, Osteomyelitis,... |
OMIM:608184 |
Cyclic Vomiting Syndrome |
|
Anorexia, Vomiting, Nausea, Gastrointestinal dysmotility, Ataxia, Attention deficit hyperactivity... |
OMIM:500007 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Pectus excavatum, Talipes equinovarus, Kyphoscoliosis, Epiphyseal dysplasia, Platyspondyly, Hip d... |
OMIM:615349 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Micropenis, Childhood-onset truncal obesity, Truncal obesity |
OMIM:610156 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Pneumonia, Lymph node hypoplasia, Impaired T cell function, Neutropenia in presence of... |
OMIM:613179 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Tarsal synostosis, Toe syndactyly, Spinal canal stenosis, 2-3 toe syndactyly, Short middle phalan... |
OMIM:263540 |
Ebola Hemorrhagic Fever |
|
Dysphagia, Vomiting, Nausea, Leukopenia, Hepatitis, Melena, Gastrointestinal hemorrhage, Increase... |
ORPHA:319218 |
Carpenter Syndrome |
|
Toe syndactyly, Polydactyly, Talipes equinovarus, Kyphoscoliosis, Craniosynostosis, Patent ductus... |
ORPHA:65759 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Pectus excavatum, Metaphyseal dysplasia, Cervical instability, Erythroderma, Kyphoscoliosis, Decr... |
OMIM:617425 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, D... |
OMIM:601859 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Metaphyseal dysplasia, Kyphoscoliosis, Osteoporosis, Epiphyseal dysplasia, Diaphyseal dysplasia, ... |
OMIM:614727 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Increased B cell count, Increased proportion of memory T cells, Bron... |
OMIM:618982 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Hepatocellular carcinoma, Glomerulonephritis, Sclerosing cho... |
ORPHA:2137 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis, Hematochezia |
OMIM:613148 |
Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... |
OMIM:614172 |
Neutropenia, Chronic Familial |
|
Periodontitis, Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Larsen-Like Syndrome |
|
Radial deviation of the 4th finger, Talipes equinovarus, Kyphoscoliosis, Recurrent otitis media, ... |
OMIM:608545 |
Otopalatodigital Syndrome, Type I |
|
Short 5th metacarpal, Capitate-hamate fusion, Lateral femoral bowing, Limited elbow extension, Bu... |
OMIM:311300 |
Hereditary Spherocytosis |
|
Hepatomegaly, Abdominal distention, Gout, Anemia, Cholelithiasis, Splenomegaly, Maculopapular exa... |
ORPHA:822 |
Dominant Beta-Thalassemia |
|
Adrenal insufficiency, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Diabetes mellitus, Diarrh... |
ORPHA:231226 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Synovitis, Osteolysis of talus, Short 4th metacarpal, Osteolysis of scaphoids, Osteolysis of pate... |
OMIM:609655 |
Multiple Synostoses Syndrome 1 |
|
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... |
OMIM:186500 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Tubulointerstitial nephritis |
OMIM:614582 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Membranous nephropathy, Hepatic cysts, Colonic eosinophilia, Hepatosplenomegal... |
OMIM:618999 |
Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Proximal symphalangism of hands, Short finger, Humeroradial synostosis, Cubitu... |
OMIM:186570 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Rectal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colo... |
ORPHA:247798 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Agammaglobulinemia, Recurrent otitis media, Neutropenia |
OMIM:613501 |
Osteopetrosis, Autosomal Recessive 2 |
|
Chronic rhinitis due to narrow nasal airway, Anemia, Osteomyelitis, Hepatosplenomegaly, Mandibula... |
OMIM:259710 |
Trichorhinophalangeal Syndrome, Type I |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Flat capital femoral epiphysis, Pectus... |
OMIM:190350 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Inability to walk, Kyphoscoliosis, Flexion contracture |
OMIM:617977 |
Ck Syndrome |
|
Long fingers, Kyphoscoliosis, Joint hypermobility, Hyperactivity, Long toe, Lumbar hyperlordosis |
ORPHA:251383 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Neutropenia, Stomatitis, Hepatitis, Splenomegaly, Dysgammaglobulinemia, Hemolytic anemia, Diarrhe... |
OMIM:308230 |
Bruck Syndrome 1 |
|
Ankle flexion contracture, Hip contracture, Vertebral wedging, Talipes equinovarus, Pectus carina... |
OMIM:259450 |
Lymphedema-Distichiasis Syndrome |
|
Tubulointerstitial nephritis, Renal duplication, Patent ductus arteriosus, Recurrent urinary trac... |
ORPHA:33001 |
Dent Disease |
|
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... |
ORPHA:1652 |
Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Hematuria, Decreased serum creatinine, Acute kidney injury, Re... |
ORPHA:54057 |
Trichothiodystrophy 1, Photosensitive |
|
Fine hair, Tiger tail banding, Brittle hair, Basal cell carcinoma, Nail dystrophy, Malabsorption,... |
OMIM:601675 |
Bethlem Myopathy 2 |
|
Kyphosis, Hip dislocation, Flexion contracture, Scapular winging, Distal joint laxity, Scoliosis |
OMIM:616471 |
Greenberg Dysplasia |
|
Epiphyseal stippling, Multiple prenatal fractures, Abnormal bone structure, Short diaphyses, Patc... |
OMIM:215140 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Eczematoid dermatitis, Pyoderma, Bronchiectasis, Aplasia of the thymu... |
OMIM:242700 |
Li-Fraumeni Syndrome |
|
Ovarian neoplasm, Acute lymphoblastic leukemia, Thyroid carcinoma, Astrocytoma, Choriocarcinoma, ... |
ORPHA:524 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Nausea and vomiting, Macrocytic anemia, Hepatomegaly, Leukopenia, Anemia, Pancreatitis, Thrombocy... |
ORPHA:27 |
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Genu varum, Irregular chondrocostal junctions, Metaphyseal dysplasia, Metaphyseal irregularity, S... |
OMIM:250420 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... |
OMIM:245480 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
C1-C2 subluxation, Anterior rib cupping, Metaphyseal dappling, Pectus carinatum, Delayed pubic bo... |
OMIM:184250 |
Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Hallux valgus, Avascular necrosis of the capital femoral epiphysis, Irregular iliac crest, Platys... |
OMIM:304950 |
Say-Barber-Miller Syndrome |
|
Thoracic kyphoscoliosis, Abnormal T cell morphology, Eczema, High palate, Transient hypogammaglob... |
ORPHA:3132 |
Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplastic iliac body, Shield chest, Hypoplasia of the femoral head, Cubi... |
OMIM:617396 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Drowsiness, Myelodysplasia, Delirium, Vomiting, Nausea, Feeding difficulties, Reye syndrome-like ... |
ORPHA:927 |
Methylmalonic Acidemia With Homocystinuria |
|
Feeding difficulties, Gait disturbance, Lethargy |
ORPHA:26 |
Hyperlysinuria With Hyperammonemia |
|
Coma, Malabsorption, Lethargy |
OMIM:238750 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Thoracolumbar kyphosis, Kyphoscoliosis, Joint laxity |
OMIM:236660 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
C1-C2 subluxation, Hip contracture, Protrusio acetabuli, Sclerotic cranial sutures, Distal taperi... |
OMIM:259600 |
Ficolin 3 Deficiency |
|
Verrucae, Necrotizing enterocolitis |
OMIM:613860 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormality of epiphysis morphology, Decreased circulating IgG level, Abnormal rib morphology, De... |
ORPHA:2643 |
Mental Retardation, X-Linked 82 |
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Scoliosis, Kyphosis |
OMIM:300518 |
Mucolipidosis Iii Alpha/Beta |
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Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Craniosynostosis, Short r... |
OMIM:252600 |
Rat-Bite Fever |
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Myocarditis, Pericarditis, Pustule, Vomiting, Endocarditis, Lymphadenitis, Oligoarthritis, Anemia... |
ORPHA:31205 |
Chylous Ascites |
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Abnormal intestine morphology, Pancreatitis, Neoplasm |
ORPHA:1160 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
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Irregular tarsal ossification, Small epiphyses, Irregular vertebral endplates, Irregular carpal b... |
OMIM:226980 |
Alpha-Heavy Chain Disease |
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Hepatomegaly, Abnormality of the small intestine, Lymphadenopathy, Anemia, Malabsorption, Lymphom... |
ORPHA:100025 |
Immunodeficiency 75 |
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Decreased proportion of class-switched memory B cells, Bronchiectasis, Lymphadenopathy, Lymphoma,... |
OMIM:619126 |
Spondylometaphyseal Dysplasia, Algerian Type |
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Anterior rib cupping, Short greater sciatic notch, Metaphyseal dysplasia, Flared femoral metaphys... |
OMIM:184253 |
Selective Igm Deficiency |
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Non-infectious meningitis, Thyroid carcinoma, Neutropenia in presence of anti-neutropil antibodie... |
ORPHA:331235 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
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Talipes equinovarus, Small hand, Kyphosis, Hip dislocation, Short foot, Hyperactivity, Scoliosis |
OMIM:300434 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
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Dystonia, Talipes equinovarus, Kyphosis, Hip dislocation, Inability to walk, Waddling gait, Ataxi... |
OMIM:616756 |
Glycogen Storage Disease Iv |
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Tubulointerstitial fibrosis, Portal hypertension, Cardiomyopathy |
OMIM:232500 |
Developmental And Epileptic Encephalopathy 41 |
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Inability to walk, Kyphoscoliosis, Flexion contracture, Lethargy |
OMIM:617105 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
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Congenital bilateral hip dislocation, Hyperactivity, Talipes equinovarus, Kyphosis |
ORPHA:85288 |
Leukocyte Adhesion Deficiency |
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Sinusitis, Recurrent aphthous stomatitis, Impaired platelet aggregation, Conjunctivitis, Leukocyt... |
ORPHA:2968 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Psoriasiform dermatitis, Interface hepatitis, Hypoplasia of the thymus, Intestinal malrotation, I... |
OMIM:243150 |
Preeclampsia |
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Elevated circulating creatinine concentration, Acute kidney injury, Chronic kidney disease, Throm... |
ORPHA:275555 |
Familial Scheuermann Disease |
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Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:3135 |
Thymoma |
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Prostate neoplasm, Abnormal lymphocyte proliferation, Imbalanced hemoglobin synthesis, Neoplasm o... |
ORPHA:99867 |
Laron Syndrome |
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Hypoplasia of penis, Abnormality of the elbow, Short toe, Osteoarthritis, Brachydactyly |
ORPHA:633 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... |
OMIM:606843 |
Familial Digital Arthropathy-Brachydactyly |
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Short middle phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... |
ORPHA:85169 |
Ataxia-Telangiectasia |
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Sinusitis, Hodgkin lymphoma, Bronchiectasis, Decreased circulating IgA level, Leukemia, Hypoplasi... |
OMIM:208900 |
Craniofacial Dysostosis With Diaphyseal Hyperplasia |
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Pectus excavatum, Limb undergrowth, Kyphoscoliosis, Massively thickened long bone cortices, Micro... |
OMIM:122900 |
Porphyria Due To Ala Dehydratase Deficiency |
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Delirium, Nausea, Abdominal distention, Increased fecal coproporphyrin 3, Myeloproliferative diso... |
ORPHA:100924 |
Juberg-Hayward Syndrome |
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Toe syndactyly, Abnormality of the elbow, Abnormal vertebral morphology, Hammertoe, Hypoplasia of... |
ORPHA:2319 |
Focal Segmental Glomerulosclerosis 10 |
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Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
Holt-Oram Syndrome |
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Pectus excavatum, Triphalangeal thumb, Phocomelia, Aplasia/Hypoplasia of the radius, Abnormal cla... |
ORPHA:392 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
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Long thorax, Cubitus valgus, Disharmonious carpal bone, Genu valgum, Slender long bones with narr... |
OMIM:608154 |
Leigh Syndrome With Nephrotic Syndrome |
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Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... |
ORPHA:255249 |
Sprengel Deformity |
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Cervical segmentation defect, Shoulder muscle hypoplasia, Hemivertebrae, Rib segmentation abnorma... |
OMIM:184400 |
Smith-Mccort Dysplasia 1 |
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