Gene Summary

SMAD family member 3
Madh3,  Smad 3

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased leukocyte cell number Smad3em1(IMPC)H HET Early adult 2.20×10-07
decreased lymphocyte cell number Smad3em1(IMPC)H HET Early adult 4.03×10-07

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Smad3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Smad3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Smad3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 8
Lymphopenia OMIM:615401
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ... OMIM:220150
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Genu varum, Abnormal form of the vertebral bodies, Metaphyseal irregularity, Abnormality of femor... ORPHA:750
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Kyphoscoliosis, Generalized joint laxity, Joint dislocation, Platyspondyly, Metaphyseal enchondro... ORPHA:85198
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, Inflammation of the large intestine, B lymphocytopenia, Monocytosis... OMIM:619281
Mueller-Weiss Syndrome
Sclerosis of foot bone, Abnormality of the os naviculare pedis, Limitation of movement at ankles,... ORPHA:566943
Brachydactylous Dwarfism, Mseleni Type
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
Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Abnormal ... ORPHA:93284
Hip Dysplasia, Beukes Type
Abnormality of bone mineral density, Abnormality of epiphysis morphology, Kyphosis, Abnormality o... ORPHA:2114
Ras-Associated Autoimmune Leukoproliferative Disorder
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
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Pancytopenia, Leukopenia, Bronchiectasis, Lymphadenitis, Partial ... OMIM:618986
Chondrocalcinosis Due To Apatite Crystal Deposition
Costal cartilage calcification, Chondrocalcinosis, Costochondral pain, Osteoarthritis of the smal... OMIM:118610
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc... OMIM:161900
Spondyloepimetaphyseal Dysplasia, Irapa Type
Upper limb undergrowth, Short metatarsal, Hypoplastic pelvis, Broad palm, Gait disturbance, Pectu... ORPHA:93351
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal hip joint morphology, Abnormal lumbar spine morphology, Thoracic scoliosis, Antalgic gai... ORPHA:166011
Progressive Pseudorheumatoid Dysplasia
Genu varum, Joint contracture of the hand, Camptodactyly of finger, Enlargement of the proximal f... OMIM:208230
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, T lymphocytopenia, Decrea... OMIM:618108
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level... OMIM:615285
Epiphyseal Dysplasia, Multiple, 6
Irregular epiphyses, Small epiphyses, Arthralgia of the hip, Flat capital femoral epiphysis, Abno... OMIM:614135
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Tubulointerstitial fibrosis, Proteinuria, Nephrotic syndrome OMIM:614196
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Abnormality of the third metatarsal bone, Chondritis, Osteochondrosis, Ar... ORPHA:564003
Spondyloepimetaphyseal Dysplasia, Irapa Type
Broad palm, Upper limb undergrowth, Metaphyseal dysplasia, Capitate-hamate fusion, Pectus carinat... OMIM:271650
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... OMIM:177170
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Small epiphyses, Hip osteoarthritis, Irregular vertebral endplates, Avascula... OMIM:132400
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... OMIM:613101
Osteochondrosis Of The Tarsal Bone
Tarsal stippling, Abnormal tarsal ossification, Chondritis, Tarsal sclerosis, Arthritis, Flatteni... ORPHA:563991
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Decreased circu... OMIM:300635
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormality of the vertebral column, Cervical platyspondyly, Abnormal ilium morphology, Genu varu... ORPHA:93314
Peutz-Jeghers Syndrome
Rectal prolapse, Neoplasm of the small intestine, Gastrointestinal hemorrhage, Abdominal pain, Me... ORPHA:2869
Spinal canal stenosis, Genu varum, Abnormality of femur morphology, Abnormality of the elbow, Bow... ORPHA:429
Nephronophthisis 18
Renal tubular atrophy, Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney dis... OMIM:615862
Multiple Epiphyseal Dysplasia Type 1
Abnormal acetabulum morphology, Gait disturbance, Genu varum, Arthralgia of the hip, Short long b... ORPHA:93308
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, T lymphocytopenia, Splenomegaly, Chronic diarrhea, B-cell lym... OMIM:619164
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Reduced arm span, Genu varum, Arthralgia of the hip, Abnormality of the knee, Fragmentation of th... ORPHA:166002
Visceral Myopathy 2
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
Eczema, Myelodysplasia, Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, ... OMIM:616871
Squamous Cell Carcinoma Of The Anal Canal
Rectal prolapse, Neoplasm of the rectum, Neoplasm of the lung, Anal canal squamous cell carcinoma... ORPHA:424019
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Pectus carinatum, Finger syndactyly, Abnormal rib morphology, Clinodact... ORPHA:3268
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pne... OMIM:300400
Liebenberg Syndrome
Metaphyseal widening, Brachydactyly, Radially deviated wrists, 2-3 finger syndactyly, Abnormality... OMIM:186550
Reticular Dysgenesis
Lack of T cell function, Leukopenia, Impaired T cell function, Congenital agranulocytosis, Hypopl... OMIM:267500
Volvulus Of Midgut
Neonatal intestinal obstruction, Abdominal distention, Volvulus, Intestinal malrotation, Constipa... OMIM:193250
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Stage 5 chronic kidney disease, Glycos... OMIM:614817
Dystonia 31
Dysphagia, Arm dystonia, Writer's cramp, Craniofacial dystonia, Difficulty walking, Generalized d... OMIM:619565
Epiphyseal Dysplasia, Multiple, 2
Irregular epiphyses, Small epiphyses, Flattened knee epiphyses, Genu varum, Knee osteoarthritis, ... OMIM:600204
Radial Hemimelia
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
Leukocytosis, Bloody diarrhea, Anemia, Ulcerative colitis OMIM:619398
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Hip osteoarthritis, Short thumb, Waddling gait, Broad hallux, Osteochondritis Dissecans, Osteoart... OMIM:165800
Familial Calcium Pyrophosphate Deposition
Abnormal intervertebral disk morphology, Chondrocalcinosis, Joint dislocation, Arthritis, Calcifi... ORPHA:1416
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alpha... ORPHA:3261
Ulnar Hemimelia
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... ORPHA:93320
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Abdominal pain, Splenomegaly OMIM:118830
Desbuquois Dysplasia 1
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
Reversible renal failure, Anterior uveitis, Panuveitis, Uveitis, Glomerulonephritis, Acute tubulo... OMIM:607665
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia OMIM:200900
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Tubulointerstitial nephritis, Elevated circulating long chain fatty acid concentra... ORPHA:228302
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Hip osteoarthritis, Schmorl's node, Irregular vertebral endplates, Beaking of ve... OMIM:604864
Solitary Rectal Ulcer Syndrome
Bloody mucoid diarrhea, Bloody diarrhea, Rectal prolapse, Tenesmus, Stercoral ulcer, Intermittent... ORPHA:209964
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... OMIM:603860
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy OMIM:602114
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, C... OMIM:618394
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Hypertension, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortic... OMIM:174000
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Diastrophic Dysplasia
Costal cartilage calcification, Irregular epiphyses, Hip contracture, Talipes equinovarus, Short ... OMIM:222600
Epiphyseal Dysplasia, Multiple, 5
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
Eczema, Inflammation of the large intestine, Dysphagia, Neutropenia, Colitis, Decreased circulati... OMIM:608809
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczema, Abnormal intestine morphology, Tubulointerstitial nephritis, Neutropenia, Neutropenia in ... ORPHA:37042
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneumococcal antib... OMIM:617006
Familial Avascular Necrosis Of Femoral Head
Flattened femoral head, Hip osteoarthritis, Abnormal femoral neck/head morphology, Limited hip mo... ORPHA:86820
Hyperlipoproteinemia, Type Id
Hepatomegaly, Colitis, Splenomegaly OMIM:615947
Hirschsprung Disease
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
Thoracic hypoplasia, Knee dislocation, Small epiphyses, Hip contracture, Coronal cleft vertebrae,... OMIM:618363
Spondyloepiphyseal Dysplasia, Kimberley Type
Abnormality of epiphysis morphology, Short thorax, Platyspondyly, Osteoarthritis, Micromelia ORPHA:93283
Iga Nephropathy, Susceptibility To, 2
Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... OMIM:613944
Brachyolmia Type 1, Hobaek Type
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
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... OMIM:202700
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
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
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
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
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
Scoliosis, Kyphosis OMIM:300518
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Craniosynostosis, Short r... OMIM:252600
Rat-Bite Fever
Myocarditis, Pericarditis, Pustule, Vomiting, Endocarditis, Lymphadenitis, Oligoarthritis, Anemia... ORPHA:31205
Chylous Ascites
Abnormal intestine morphology, Pancreatitis, Neoplasm ORPHA:1160
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular tarsal ossification, Small epiphyses, Irregular vertebral endplates, Irregular carpal b... OMIM:226980
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormality of the small intestine, Lymphadenopathy, Anemia, Malabsorption, Lymphom... ORPHA:100025
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Bronchiectasis, Lymphadenopathy, Lymphoma,... OMIM:619126
Spondylometaphyseal Dysplasia, Algerian Type
Anterior rib cupping, Short greater sciatic notch, Metaphyseal dysplasia, Flared femoral metaphys... OMIM:184253
Selective Igm Deficiency
Non-infectious meningitis, Thyroid carcinoma, Neutropenia in presence of anti-neutropil antibodie... ORPHA:331235
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Talipes equinovarus, Small hand, Kyphosis, Hip dislocation, Short foot, Hyperactivity, Scoliosis OMIM:300434
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Dystonia, Talipes equinovarus, Kyphosis, Hip dislocation, Inability to walk, Waddling gait, Ataxi... OMIM:616756
Glycogen Storage Disease Iv
Tubulointerstitial fibrosis, Portal hypertension, Cardiomyopathy OMIM:232500
Developmental And Epileptic Encephalopathy 41
Inability to walk, Kyphoscoliosis, Flexion contracture, Lethargy OMIM:617105
X-Linked Intellectual Disability, Stocco Dos Santos Type
Congenital bilateral hip dislocation, Hyperactivity, Talipes equinovarus, Kyphosis ORPHA:85288
Leukocyte Adhesion Deficiency
Sinusitis, Recurrent aphthous stomatitis, Impaired platelet aggregation, Conjunctivitis, Leukocyt... ORPHA:2968
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Psoriasiform dermatitis, Interface hepatitis, Hypoplasia of the thymus, Intestinal malrotation, I... OMIM:243150
Elevated circulating creatinine concentration, Acute kidney injury, Chronic kidney disease, Throm... ORPHA:275555
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Prostate neoplasm, Abnormal lymphocyte proliferation, Imbalanced hemoglobin synthesis, Neoplasm o... ORPHA:99867
Laron Syndrome
Hypoplasia of penis, Abnormality of the elbow, Short toe, Osteoarthritis, Brachydactyly ORPHA:633
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:606843
Familial Digital Arthropathy-Brachydactyly
Short middle phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... ORPHA:85169
Sinusitis, Hodgkin lymphoma, Bronchiectasis, Decreased circulating IgA level, Leukemia, Hypoplasi... OMIM:208900
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Pectus excavatum, Limb undergrowth, Kyphoscoliosis, Massively thickened long bone cortices, Micro... OMIM:122900
Porphyria Due To Ala Dehydratase Deficiency
Delirium, Nausea, Abdominal distention, Increased fecal coproporphyrin 3, Myeloproliferative diso... ORPHA:100924
Juberg-Hayward Syndrome
Toe syndactyly, Abnormality of the elbow, Abnormal vertebral morphology, Hammertoe, Hypoplasia of... ORPHA:2319
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Holt-Oram Syndrome
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
Long thorax, Cubitus valgus, Disharmonious carpal bone, Genu valgum, Slender long bones with narr... OMIM:608154
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... ORPHA:255249
Sprengel Deformity
Cervical segmentation defect, Shoulder muscle hypoplasia, Hemivertebrae, Rib segmentation abnorma... OMIM:184400
Smith-Mccort Dysplasia 1