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 circulating alkaline phosphatase level Smad3em1(IMPC)H HET Early adult 5.92×10-06
preweaning lethality, complete penetrance Smad3em1(IMPC)H HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 predicted to be associated to Smad3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ... OMIM:220150
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, B lymphocytopenia, Chronic diarrhea, Leukocytosis, Inflammation of the large inte... OMIM:619281
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Type I diabetes mellitus,... ORPHA:436159
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Lymphoma, Spleno... OMIM:614470
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Diarrhea, Crohn's disease, Arthritis,... OMIM:616100
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... OMIM:614196
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent otitis media, Partial absence of specific antibody response to Haemophilus influenzae t... OMIM:618986
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Nephritis, Proteinuria, Elevated circulating creatinine concentration, Sta... OMIM:161900
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic diarrhea, Chronic neutropenia, Decreased specific antibody response to vaccination, Recur... OMIM:614700
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... OMIM:614817
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, Diarrhea, B lymphocytopenia, Skin rash, Decreased circulating antibo... OMIM:618108
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Anemia, Increased circulating antibody level, Chronic diarrhea, Thrombocytopenia, S... OMIM:615285
Abnormal form of the vertebral bodies, Short long bone, Increased laxity of ankles, Flat acetabul... ORPHA:750
Nephronophthisis 18
Nephronophthisis, Hypertension, Thickened glomerular basement membrane, Renal tubular atrophy, St... OMIM:615862
Specific Granule Deficiency 1
Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre... OMIM:245480
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased circulating antibody lev... OMIM:300635
Peutz-Jeghers Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Biliary tract neoplasm, Neoplasm, Abdominal ... ORPHA:2869
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hemophagocytosis, Lymphadenopathy, Decreased circulating antibody level, Abnormal natural... OMIM:613101
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutini... OMIM:300400
Spondyloepiphyseal Dysplasia Tarda
Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse... ORPHA:93284
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroparesis, Gastroesophageal reflux, Intestinal pseud... OMIM:619350
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Lymphoma, Eczematoid dermatitis, Bone marrow hypocellularity... OMIM:616871
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo... OMIM:619374
Kyphoscoliosis, Abnormal fibula morphology, Abnormal ulnar metaphysis morphology, Genu valgum, Pl... ORPHA:85198
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, Chronic diarrhea, T lymphocytopenia, Recurrent pneumonia, Spl... OMIM:619164
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... OMIM:267500
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Scoliosis, Abnormal rib morp... ORPHA:3268
Liebenberg Syndrome
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... OMIM:186550
Immunodeficiency 15B
Chronic oral candidiasis, Chronic diarrhea, Decreased circulating antibody level, Agammaglobuline... OMIM:615592
Volvulus Of Midgut
Abdominal distention, Constipation, Intestinal malrotation, Volvulus, Neonatal intestinal obstruc... OMIM:193250
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Elevated circulating creatine ... ORPHA:228302
Immunodeficiency 97 With Autoinflammation
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Abdominal... OMIM:619802
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Broad femoral neck, Abnormality of the hand, Difficulty walking, Hump-shaped mound of bone in cen... ORPHA:99642
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Bloody diarrhea, Ulcerative colitis, Anemia OMIM:619398
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ... ORPHA:93351
Squamous Cell Carcinoma Of The Anal Canal
Rectal prolapse, Anal stenosis, Anal canal squamous cell carcinoma, Neoplasm of the rectum, Abdom... ORPHA:424019
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hand metaphysis morphology, Joint stiffness, Biconcave vertebral b... ORPHA:166011
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Nephronophthisis 1
Polyuria, Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Tubular basement membrane... OMIM:256100
Radial Hemimelia
Abnormal thumb morphology, Abnormality of the trapezium, Aplasia of the 1st metacarpal, Abnormali... ORPHA:93321
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Abdominal pain, Splenomegaly, Recurrent pancreatitis OMIM:118830
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Gout, Stage ... OMIM:603860
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Osteoarthritis of the elbow, Abnormality of the wrist, Hip osteoarthritis, Joint subl... ORPHA:2619
Mueller-Weiss Syndrome
Fragmented, irregular epiphyses, Difficulty walking, Joint subluxation, Knee osteoarthritis, Arth... ORPHA:566943
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... OMIM:174000
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Neoplasm of the tongue, Neoplasm of the skin... ORPHA:3261
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormality of bone mineral density, Scoliosis, Hip dysplasia, Kyphos... ORPHA:2114
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni... OMIM:618394
Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi... OMIM:177170
Hirschsprung Disease
Intestinal obstruction, Neoplasm of the thyroid gland, Aganglionic megacolon, Intestinal polyposi... ORPHA:388
Metatropic Dysplasia
Kyphoscoliosis, Narrow greater sciatic notch, Relatively short spine, Short ribs, Flat acetabular... OMIM:156530
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, De... OMIM:617006
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormality of the endocrine system, Abnormal intestine morphology, Splenomegaly, Psoriasiform de... ORPHA:37042
Solitary Rectal Ulcer Syndrome
Intermittent diarrhea, Rectal prolapse, Anal fissure, Abdominal pain, Bloody diarrhea, Episodic a... ORPHA:209964
Iga Nephropathy, Susceptibility To, 2
Hematuria, Hypertension, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chroni... OMIM:613944
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti... OMIM:271650
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific... OMIM:132400
Multiple Epiphyseal Dysplasia Type 1
Genu valgum, Arthralgia of the hip, Delayed epiphyseal ossification, Short long bone, Limitation ... ORPHA:93308
Progressive Pseudorheumatoid Dysplasia
Kyphoscoliosis, Joint stiffness, Flattened epiphysis, Genu varum, Difficulty walking, Osteoporosi... OMIM:208230
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... OMIM:202700
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent sinusitis, Recurrent... OMIM:616576
Diastrophic Dysplasia
Kyphoscoliosis, Short finger, Genu valgum, Irregular epiphyses, Small for gestational age, Hitchh... OMIM:222600
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Genu valgum, Ulnar deviated club hands, Abnormality of... ORPHA:166002
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Pectus carinatum, Flat acetabular r... ORPHA:93314
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Anal fissure, Recurrent tonsillitis, Lymphadenopathy, Crohn's disease, Acute pa... OMIM:618935
Osteochondrosis Of The Metatarsal Bone
Osteochondrosis, Difficulty walking, Flattened metatarsal heads, Abnormality of the third metatar... ORPHA:564003
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... OMIM:618969
Desbuquois Dysplasia 1
Sandal gap, Hyperlordosis, Flat acetabular roof, Kyphosis, Broad femoral neck, Bifid distal phala... OMIM:251450
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Clinodactyly of the 5th finger, Broad middle phalanx of finger, Delayed epiphyseal ossification, ... OMIM:182255
Epiphyseal Dysplasia, Multiple, 6
Flat distal femoral epiphysis, Irregular epiphyses, Flat capital femoral epiphysis, Intervertebra... OMIM:614135
Craniosynostosis, Adelaide Type
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all middle phalanges of the fin... OMIM:600593
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Kyphoscoliosis, Delayed pubic bone ossification, Proximal placement of thumb, Pectus carinatum, H... OMIM:613330
Immunodeficiency 108 With Autoinflammation
Impaired neutrophil chemotaxis, Recurrent aphthous stomatitis, Abdominal pain, Hyposegmentation o... OMIM:260570
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Chronic diarrhea, Skin rash, Recurrent bacterial skin infections, Decreased lympho... ORPHA:911
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal form of the vertebral bodies,... ORPHA:429
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg... OMIM:609052
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Crohn's disease, Increased circulating IgE... OMIM:615767
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Mediastinal lympha... OMIM:300853
Nephronophthisis 4
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 chronic k... OMIM:606966
Osteochondrosis Of The Tarsal Bone
Osteochondritis dissecans, Tarsal sclerosis, Arthritis, Abnormal tarsal ossification, Chondritis,... ORPHA:563991
High-Grade Dysplasia In Patients With Barrett Esophagus
Gastroesophageal reflux, Barrett esophagus, Dysphagia, Esophageal obstruction ORPHA:231080
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Elevated fecal sodium, Secretory diarrhea, Inflammation of the large intestine OMIM:616868
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Hereditary Mixed Polyposis Syndrome
Thyroid carcinoma, Hyperplastic colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, ... ORPHA:157794
Acromesomelic Dysplasia, Hunter-Thompson Type
Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Sc... ORPHA:968
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Increased circulating IgM level, Helicobacter pylori infection, Ly... ORPHA:2688
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Recurrent aphthous stomatitis, Diarrhea, Crohn's disease, Abdominal pain,... OMIM:266600
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Abnormal immunoglobulin level, Absent peripheral lymph nodes in presence ... ORPHA:98813
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Glomerular C3 deposition, Renal insufficiency, Arthritis, Skin rash, Abnorma... ORPHA:567544
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Cubitus valgus, Du... ORPHA:1836
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Decreased circulating total IgM, Chronic diarrhea, Increased circulating IgE level, At... OMIM:617638
Chronic Diarrhea Due To Glucoamylase Deficiency
Abdominal distention, Dyspepsia, Abnormal small intestinal mucosa morphology, Chronic diarrhea, A... ORPHA:103907
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Impaired lymphocyte transformation with phytohemagglutinin, Intestinal ma... OMIM:243150
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Congenital bilateral hip dislocation, Joint subluxation, Hallux valgus, Scoliosis, Ky... OMIM:130060
Epiphyseal Dysplasia, Multiple, 2
Osteochondritis dissecans, Irregular epiphyses, Small epiphyses, Broad-based gait, Knee osteoarth... OMIM:600204
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Chronic diarrhea, Complete or near-co... OMIM:607271
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Desmoid Tumor
Fibroma, Intestinal obstruction, Gastrointestinal hemorrhage, Intestinal polyposis, Abdominal pai... ORPHA:873
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Sterile abscess, Arthritis, Sterile arthritis, Cystic acne, Hepatosplenomegaly, Acn... OMIM:604416
Waardenburg-Shah Syndrome
Premature graying of hair, Intestinal obstruction, Aganglionic megacolon, Hypopigmentation of hai... ORPHA:897
Autoinflammation With Infantile Enterocolitis
Anemia, Episodic vomiting, Pancytopenia, Skin rash, Feeding difficulties in infancy, Enterocoliti... OMIM:616050
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Adiposis Dolorosa
Constipation, Abdominal distention, Painful subcutaneous lipomas, Depression OMIM:103200
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Crohn's disease, Skin rash, B-cell lymphoma, T lymphocytopenia, Splenomegaly, Bow... OMIM:619381
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Osteochondritis dissecans, Hip osteoarthritis, Waddling gait, Broad hallux, Short thumb, Brachyda... OMIM:165800
Nephronophthisis 2
Pulmonary insufficiency, Enlarged kidney, Nephronophthisis, Chronic tubulointerstitial nephritis,... OMIM:602088
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Myositis, Increased... OMIM:620565
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Beaking of vertebral bodies, Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped ... OMIM:609616
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Diarrhea, Partial absence of specific anti... OMIM:240500
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Pancreatic adenocarcinoma, Neoplasm of the rectum, Squamous cell carcinoma,... ORPHA:454840
Gastrointestinal Stromal Tumor
Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the stomach... ORPHA:44890
Polycystic Kidney Disease 7
Hypertension, Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, ... OMIM:620056
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Multiple joint dislocation, Kyphosis, Slender metacarpals, Metaphyseal irregulari... ORPHA:93360
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, Bowing of t... ORPHA:2632
Muir-Torre Syndrome
Basal cell carcinoma, Adenoma sebaceum, Ovarian neoplasm, Malignant genitourinary tract tumor, Be... OMIM:158320
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Nephronophthisis-Like Nephropathy 2
Polyuria, Tubular luminal dilatation, Periglomerular fibrosis, Elevated circulating creatinine co... OMIM:619468
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched mem... OMIM:607594
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Hyperuricemia, Renal cyst, Focal segmental glomerulosclerosis, Chronic kidney disease, El... OMIM:617056
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Hepatomegaly, Anemia, Pancreatitis, Abdominal pain, Thrombocytopenia, Splenomegaly, Fee... ORPHA:79312
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Irregular epiphyses, Arthralgia of the hip, Small epiphyses, Delayed ossification of... OMIM:607078
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration... OMIM:614723
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Vertebral wedging, Flat acetabular roof, Epiphyseal dysplasia, Hypopl... OMIM:617719
Immunodeficiency 91 And Hyperinflammation
Intermittent diarrhea, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Recurrent pneumonia, Hepa... OMIM:619644
Ménétrier Disease
Anorexia, Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Gastroesophageal reflux, St... ORPHA:2494
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anemia, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... OMIM:612925
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Recurrent aphthous stomatitis, Acute myeloid leukemia, Periodontitis, Diarrhea, ... ORPHA:486
Osteoarthritis With Mild Chondrodysplasia
Beaking of vertebral bodies, Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stif... OMIM:604864
Immunodeficiency 53
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Re... OMIM:617585
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Hypertension, Glycosuria, Proteinuria, Stage 5 chronic kidney diseas... OMIM:618913
Trehalase Deficiency
Abdominal distention, Diarrhea, Abdominal pain, Vomiting, Malabsorption ORPHA:103909
Leri-Weill Dyschondrosteosis
Limited elbow movement, Tibial bowing, Increased carrying angle, Mesomelia, Coxa valga, Hypoplasi... OMIM:127300
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anemia, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... OMIM:612924
Infantile Myofibromatosis
Fibroma, Intestinal obstruction, Neoplasm of the pancreas, Abnormal hair morphology, Gingival fib... ORPHA:2591
Gastrointestinal hemorrhage, Colorectal polyposis, Multiple intestinal neurofibromatosis, Neoplas... ORPHA:251992
Mixed Connective Tissue Disease
Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Gastritis, Mediastinal lymphadenopathy, G... ORPHA:809
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Central diabetes insipidus, Non-caseating epithelioid cell gran... ORPHA:227990
Spondylometaphyseal Dysplasia, Kozlowski Type
Kyphoscoliosis, Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand,... OMIM:184252
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Biliary cirrhosis, Leukopenia, Type I diabetes mellitus, Aplasia/Hypoplasia of... ORPHA:227982
Pseudomyxoma Peritonei
Intestinal obstruction, Abdominal pain, Constipation, Inflammation of the large intestine, Nausea... ORPHA:26790
Shwachman-Diamond Syndrome
Aplastic anemia, Steatorrhea, Macrocytic anemia, Skin rash, Chronic neutropenia, Sinusitis, Bone ... ORPHA:811
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anemia, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anemia, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anemia, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... OMIM:612926
Brachyolmia Type 1, Hobaek Type
Squared-off platyspondyly, Lumbar hypolordosis, Short iliac bones, Sclerotic foci of metaphyses o... OMIM:271530
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Chronic diarrhea, Abdominal pain, Abnormal int... OMIM:619079
Immunodeficiency 42
Chronic oral candidiasis, Hepatomegaly, Recurrent aphthous stomatitis, Hypoplasia of the thymus, ... OMIM:616622
Sjogren Syndrome
Rheumatoid arthritis, Keratoconjunctivitis sicca, Tubulointerstitial nephritis OMIM:270150
Familial Calcium Pyrophosphate Deposition
Abnormal intervertebral disk morphology, Joint dislocation, Arthritis, Limitation of joint mobili... ORPHA:1416
Epiphyseal Dysplasia, Multiple, 3
Limited elbow extension, Irregular epiphyses, Small epiphyses, Delayed epiphyseal ossification, L... OMIM:600969
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
Familial Avascular Necrosis Of Femoral Head
Abnormal femoral neck/head morphology, Hip osteoarthritis, Flattened femoral head, Limited hip mo... ORPHA:86820
Familial Adenomatous Polyposis 3
Basal cell carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Prostate cancer, Bladder neopl... OMIM:616415
Scheuermann Disease
Osteochondrosis, Kyphosis, Morbus Scheuermann OMIM:181440
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Iga Nephropathy, Susceptibility To, 1
Hematuria, Hypertension, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chroni... OMIM:161950
Dystonia 31
Abnormal posturing, Dysphagia, Depression OMIM:619565
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Neutrophilia, Pneumonia OMIM:266265
Otospondylomegaepiphyseal Dysplasia
Sandal gap, Tibial bowing, Glossoptosis, Abnormally ossified vertebrae, Short metacarpal, Bifid u... ORPHA:1427
Alport Syndrome
Thin glomerular basement membrane, Hematuria, Renal glomerular foam cells, Glomerular C3 depositi... ORPHA:63
Multiple Epiphyseal Dysplasia Type 4
Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Abnormal forearm bone morphol... ORPHA:93307
Primary Myelofibrosis
Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leuk... ORPHA:824
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Diarrhea, Abdominal pain, Colon cancer, Hematochezia, I... OMIM:174900
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Kyphoscoliosis, Hyperlordosis, Short long bone, Flattened epiphysis, Thoracic hypoplasia, Joint h... OMIM:618363
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, Br... OMIM:617405
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, Diarrhea, B lymphocytopenia, Increased circulating IgE level, Lack of T c... ORPHA:277
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Congenital finger flexion contractures, Kyphosis... ORPHA:536516
Immunodeficiency 32B
Hepatomegaly, Anemia, Abnormal circulating IgG level, Bronchiectasis, Sinusitis, Eosinophilia, Ne... OMIM:226990
Senior-Loken Syndrome 1
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Impaired renal concentrating ability, St... OMIM:266900
Monocyte Chemotactic Disorder
Chronic mucocutaneous candidiasis, Cutaneous anergy OMIM:252250
Parastremmatic Dwarfism
Genu valgum, Scoliosis, Bowing of the long bones, Kyphosis, Short neck OMIM:168400
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Lipoma, Odontoma, Desmoid tumors, Fibroadenoma of the breast, Duodenal ... ORPHA:247806
Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu... ORPHA:73263
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly, Myelodysplasia OMIM:162830
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal femoral head morphology, Pectus carinatum, Short long bone... ORPHA:239
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Ulnar bowing, Flared metaphysis, Metaphyseal cupping, Irregu... OMIM:602111
Small Bowel Atresia
Abdominal distention, Intestinal hypoplasia, Vomiting, Intestinal malrotation, Feeding difficulti... ORPHA:1201
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Kyphoscoliosis, Hypogonadism, Lumbar kyphosis in infancy, External genital hypoplasia, 4-5 toe sy... ORPHA:3041
Beukes Hip Dysplasia
Flat capital femoral epiphysis, Irregular capital femoral epiphysis, Wide proximal femoral metaph... OMIM:142669
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Diarrhea, B lymphocytopenia, Hypoplas... OMIM:619313
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Skin rash, Recurrent bacterial skin infections, Lym... ORPHA:276
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rh... ORPHA:1354
Brachyolmia Type 1, Toledo Type
Kyphoscoliosis, Abnormal odontoid process morphology, Squared-off platyspondyly, Precocious costo... OMIM:271630
Crome Syndrome
Renal tubular epithelial necrosis OMIM:218900
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Spondyloepiphyseal Dysplasia, Kimberley Type
Short thorax, Abnormal epiphysis morphology, Micromelia, Osteoarthritis, Platyspondyly ORPHA:93283
Burkitt Lymphoma
Neoplasm of the oral cavity, Intestinal obstruction, Gastrointestinal hemorrhage, Abdominal pain,... ORPHA:543
Immunodeficiency 52
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci... OMIM:617514
Immunodeficiency 104
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Gastroesophageal reflux, Diarrhea, Chronic... OMIM:608971
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa... OMIM:102510
Neuroendocrine Neoplasm Of Appendix
Anorexia, Bowel urgency, Ovarian neoplasm, Midgut malrotation, Hypoactive bowel sounds, Episodic ... ORPHA:100079
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Nephrotic syndrome, Podo... OMIM:615861
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Ankylosing Vertebral Hyperostosis With Tylosis
Abnormality of the vertebral column, Abnormal pelvis bone morphology, Obesity, Osteoarthritis, Pa... ORPHA:2206
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Abnormal form of the vertebr... ORPHA:1801
Cyclic Neutropenia
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Periodontitis, Decreased eosinophil cou... ORPHA:2686
Maternal Uniparental Disomy Of Chromosome 9
Osteochondrosis, Kyphoscoliosis, Abnormal vertebral morphology, Hamstring contractures, Failure t... ORPHA:96183
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Lymphadenopathy, I... OMIM:619220
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Neutropenia, Cholangitis, Panhypogammaglobulinemia, Chronic mucocutaneous candid... OMIM:209920
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic oral candidiasis, Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Diarrhea,... OMIM:240300
Multiple Epiphyseal Dysplasia Type 5
Avascular necrosis of the capital femoral epiphysis, Genu valgum, Difficulty walking, Interverteb... ORPHA:93311
C3 Glomerulopathy 3
Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo... OMIM:614809
Mismatch Repair Cancer Syndrome 1
Basal cell carcinoma, T-cell lymphoma, Rhabdomyosarcoma, Pleomorphic xanthoastrocytoma, Leukemia,... OMIM:276300
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Carpal bone hypoplasia, Multiple joint dislocation, Dislocated radial hea... OMIM:618395
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Basal cell carcinoma, Nail dystrophy, Squamous cell carcinoma, Stomach cance... ORPHA:79501
Nemaline Myopathy 7
Kyphoscoliosis, Genu recurvatum, High palate, Waddling gait, Gait disturbance, Lumbar hyperlordos... OMIM:610687
Syndromic Diarrhea
Intractable diarrhea, Villous atrophy, Gastritis, Cirrhosis, Panhypogammaglobulinemia, Hepatomega... ORPHA:84064
Arthrogryposis, Distal, Type 3
Kyphoscoliosis, Pectus excavatum, Bifid uvula, Overlapping toe, Scoliosis, Ulnar deviation of the... OMIM:114300
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Cholestatic liver disease, Jaundice, Neutropenia, Hemophagocytosis, Mac... ORPHA:540
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Aganglionic megacolon, Vomiting, Enterocolitis, Constipation, Abnormal ente... OMIM:142623
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Narrow chest, Metaphyseal cupping, Short thorax, Bowing of the long b... ORPHA:85166
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Kyphoscoliosis, Tip-toe gait, Proximal muscle weakness in upper limbs, Upper limb amyotrophy, Dys... ORPHA:496689
Axin2-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Colon cancer, Neoplasm of the rectum, Colorectal polyposis ORPHA:401911
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Gastroesophageal reflux, Diarrhea, Abdominal pain, Bloody diarrhea, Bowel i... ORPHA:35122
Spondyloepiphyseal Dysplasia, Stanescu Type
Kyphoscoliosis, Beaking of vertebral bodies, Internal tibial torsion, Stiff neck, Vertebral wedgi... OMIM:616583
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Flattened metacarpal heads, Hip osteoarthritis, Flattened metatarsal heads, Osteoarthritis, Platy... OMIM:271600
Winchester Syndrome
Carpal osteolysis, Arthropathy, Broad metacarpals, Kyphosis, Osteolysis involving tarsal bones OMIM:277950
Intestinal Dysmotility Syndrome
Abdominal distention, Diarrhea, Projectile vomiting, High palate, Decreased intestinal transit ti... OMIM:620045
Diarrhea 12, With Microvillus Atrophy
Abdominal distention, Microvillar PAS-positive secretory granules, Vomiting, Secretory diarrhea, ... OMIM:619445
Immunodeficiency 27A
Anorexia, Anemia, Lymphadenopathy, Diarrhea, Increased circulating IgG level, Salmonella osteomye... OMIM:209950
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Premature pubarche, Secondary amenorrhea, Lumbar scoliosis, Lower limb undergrowt... OMIM:612847
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Peritoneal Cystic Mesothelioma
Abdominal distention, Abdominal pain, Dyspareunia, Constipation, Menorrhagia, Peritonitis, Neopla... ORPHA:168816
Progressive Osseous Heteroplasia
Limitation of joint mobility, Ectopic ossification in muscle tissue, Osteoarthritis, Brachydactyl... ORPHA:2762
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Recurrent tons... ORPHA:183675
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... ORPHA:168549
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Normocytic anemia, Renal tubular epithelial necrosis, Hematuria, Elevated ci... ORPHA:49041
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Skin rash, Thrombocytopenia, Anterior uveitis, Lymphopenia, Hemolytic anemia, Colitis OMIM:616744
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina... OMIM:618534
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Diarrhea, ... ORPHA:70475
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Scoliosis, Kyphosis, Arthrogryposis multiplex congenita, Bilateral talipes equino... OMIM:618484
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal intervertebral disk morp... ORPHA:2635
Osteoarthritis Susceptibility 3
Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis, Osteoarthriti... OMIM:607850
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia, Esophageal stenosi... OMIM:615190
Gastrointestinal Stromal Tumor
Intestinal obstruction, Gastrointestinal stroma tumor, Constipation, Dysphagia, Neurofibroma OMIM:606764
Kienbock Disease
Osteochondritis dissecans, Abnormality of the wrist, Limitation of joint mobility, Osteoarthritis ORPHA:97332
Carpenter Syndrome
Polydactyly, Kyphoscoliosis, External genital hypoplasia, Genu valgum, Finger syndactyly, Postaxi... ORPHA:65759
Familial Adenomatous Polyposis
Lipoma, Odontoma, Pituitary adenoma, Neoplasm of the gastrointestinal tract, Desmoid tumors, Duod... ORPHA:733
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse, Bowel incontinence OMIM:176780
Pauci-Immune Glomerulonephritis
Small vessel vasculitis, Acute kidney injury, Scleritis, Pancreatitis, Decreased glomerular filtr... ORPHA:93126
Legg-Calvé-Perthes Disease
Cartilage destruction, Joint dislocation ORPHA:2380
Immunodeficiency 40
Chronic oral candidiasis, Intermittent diarrhea, Recurrent otitis media, Rectal fistula, Macroves... OMIM:616433
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis, Diarrhea, Megaloblastic anemia, Folate-unresponsive megaloblastic anemia, Abnormal ery... ORPHA:2575
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus, Abnormally low T cell receptor exc... OMIM:602450
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Irregular epiphyses, Hip osteoarthritis, Barrel-shaped chest, Hypoplastic iliac wing, Scoliosis, ... OMIM:313400
Cap Polyposis
Abdominal distention, Colorectal polyposis, Diarrhea, Abdominal pain, Constipation, Hematochezia,... ORPHA:160148
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Skin... OMIM:619924
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Thrombocytosis, Iron deficiency anemia, Anoperineal fistula, Lymphocytosis, Chr... OMIM:301074
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Myoglobinuria, Polycystic kidney dysplasia, Red-brown urine, H... ORPHA:157
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Hyperextensibility of the finger joints, Delayed ossification of carpal bones... OMIM:105835
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Genu valgum, Intervertebral space narrowing, Flat capital femoral epiphysis, Pectus carinatum, Sc... OMIM:609223
Nephrotic Syndrome, Type 23
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa... OMIM:619201
Eng-Strom Syndrome
Arthritis, Scoliosis, Pectus excavatum, Camptodactyly of finger, Brachydactyly ORPHA:1937
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
C3 Glomerulopathy
Acute kidney injury, Hematuria, Nephrotic syndrome, Proteinuria, Mesangial hypercellularity, Chro... ORPHA:329918
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Enlarged epiphyses, Epiphyseal dysplasia, Cleft palate, Platyspondyly, Premature osteoarthritis OMIM:184840
Beta-Thalassemia Intermedia
Decreased liver function, Anemia of inadequate production, Splenomegaly, Hypogonadism, Decreased ... ORPHA:231222
Congenital Short Bowel Syndrome
Abdominal distention, Steatorrhea, Projectile vomiting, Chronic diarrhea, Abnormal peristalsis, C... OMIM:615237
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Clinodactyly of the 5th finger, Camptodactyly, Kyphosis, Short thumb, Overlapping toe OMIM:618453
Roussy-Lévy Syndrome
Kyphoscoliosis, Limb ataxia, Genu valgum, Difficulty walking, Scoliosis, Urinary bladder sphincte... ORPHA:3115
Spastic Paraplegia 18B, Autosomal Recessive
Inability to walk, Scoliosis, High palate, Kyphosis, Gait disturbance, Joint contracture, Ankle c... OMIM:611225
Malignant Peritoneal Mesothelioma
Abdominal distention, Abdominal pain, Peritonitis, Neoplasm, Ileus ORPHA:168811
Developmental Dysplasia Of The Hip 2
Arthritis, Hip osteoarthritis, Coxa valga, Hip dysplasia OMIM:615612
Severe Canavan Disease
Oral-pharyngeal dysphagia, Gastroesophageal reflux, Poor suck, Vomiting, Feeding difficulties, Na... ORPHA:314911
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Renal insufficiency, Myoglobinuria, Pol... ORPHA:228308
Familial Adenomatous Polyposis 1
Fibroma, Osteoma, Duodenal polyposis, Adrenocortical adenoma, Adenomatous colonic polyposis, Carc... OMIM:175100
Abnormal tibia morphology, Abnormal cortical bone morphology, Arthritis, Eczematoid dermatitis, J... ORPHA:1525
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Absent fifth metatarsal, Single transver... OMIM:176240
Schwartz-Jampel Syndrome, Type 1
Kyphoscoliosis, Flexion contracture of toe, Pectus carinatum, Wrist flexion contracture, Anterior... OMIM:255800
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Generalized joint hypermobility, Cervical C2/C3 vertebral fusion, Hammertoe, Squared ... OMIM:618000
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Abnormal metacarpal morphology, Pectus carinatum, Glossoptosis, Pectus excavatum, Cleft palate, O... ORPHA:166100
Congenital Pancreatic Cyst
Anorexia, Abdominal distention, Jaundice, Pancreatitis, Abdominal pain, Vomiting ORPHA:313906
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Nephronophthisis, Tubulointerstitial nephritis OMIM:616629
Early Myoclonic Encephalopathy
Lethargy, Poor suck, Dysphagia, Feeding difficulties ORPHA:1935
Immunodeficiency 9
Recurrent aphthous stomatitis, Abnormal natural killer cell count, Stomatitis, Chronic diarrhea, ... OMIM:612782
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Hypoplasia of the radius, Tarsal synost... OMIM:112910
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Thyroiditis, Skin rash, Cardiac arrest, Hepatitis, Nephrotic syndrome, Pustule, Infe... ORPHA:139402
Blue Rubber Bleb Nevus
Rectal prolapse, Cerebellar medulloblastoma, Hemangioma, Volvulus, Intestinal bleeding, Intussusc... OMIM:112200
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Kyphosis, ... OMIM:603546
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Decreased circulating total IgM, Decrease... OMIM:615615
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Genu valgum, Hypophosphatemic rickets, Fibular bowing, Renal phosphate wasting, Cupped m... OMIM:307800
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia, Eczematoid dermatitis OMIM:300988
Primary Peritoneal Carcinoma
Abdominal distention, Abdominal pain, Constipation, Peritonitis, Neoplasm, Nausea and vomiting ORPHA:168829
Hereditary Amyloidosis With Primary Renal Involvement
Congestive heart failure, Gastrointestinal hemorrhage, Renal interstitial amyloid deposits, Decre... ORPHA:85450
Dysplasia Epiphysealis Hemimelica
Tarsal synostosis, Genu valgum, Abnormal femur morphology, Irregular epiphyses, Joint stiffness, ... ORPHA:1822
Stickler Syndrome, Type I
Beaking of vertebral bodies, Abnormal femoral epiphysis morphology, Platyspondyly, Spondylolisthe... OMIM:108300
Adenocarcinoma Of The Anal Canal
Rectal prolapse, Anal stenosis, Neoplasm of the rectum, Abdominal pain, Neoplasm of the lung, Neo... ORPHA:424016
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Anemia, Thrombocytopenia, Nausea and vomiting, Neutropenia ORPHA:289916
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Mirage Syndrome
Anemia, Gastroesophageal reflux, Chronic diarrhea, Scoliosis, Adrenal hypoplasia, Aspiration pneu... OMIM:617053
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Acute kidney injury, Hyperuricemia, Renal insufficiency, Dysuria, Uric acid nephrolithiasis, Macr... ORPHA:79233
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Pectus carinatum, Delayed ossification of carpal bones, Kyphosis, Brachydactyly, Short femoral neck OMIM:618392
Spondyloepimetaphyseal Dysplasia, Shohat Type
Generalized bone demineralization, Hyperlordosis, Short long bone, Thoracic hypoplasia, Metaphyse... ORPHA:93352
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Hypoplastic iliac wing, Scoliosis, Short ribs, Irregular chondrocostal juncti... OMIM:187760
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Congestive heart failure, Glomerulopathy, Hematuria, Myositis, Vasculitis, Skin rash... ORPHA:183
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Short middle phalanx of the 5th finger, Abnormal epiphysis morphology, Short ... ORPHA:63442
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Splenomegaly, Decreased lymphocyte apoptosis, Increased circulating ... OMIM:603909
Jeune Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Narrow chest, Short thorax, Abnorma... ORPHA:474
Diastrophic Dysplasia
Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Sy... ORPHA:628
Carney-Stratakis Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Intestinal inflammation, Hemophagocytosis, Pancytopenia, Chronic diarr... OMIM:619858
Legionnaires Disease
Myocarditis, Anorexia, Jaundice, Pancreatitis, Lymphadenopathy, Diarrhea, Abdominal pain, Hepatit... ORPHA:549
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Abdominal distention, Neoplasm of the pancreas, Ovarian n... ORPHA:83469
Lissencephaly Syndrome, Norman-Roberts Type
Microlissencephaly, Abnormality of neuronal migration, Hypoplastic spleen, 4-layered lissencephal... ORPHA:89844
Peutz-Jeghers Syndrome
Rectal prolapse, Neoplasm of the pancreas, Gastrointestinal carcinoma, Precocious puberty with Se... OMIM:175200
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia OMIM:609886
Cryoglobulinemia, Familial Mixed
Hematuria, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated circulating c... OMIM:123550
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Kyphoscoliosis, Spinal rigidity, Scoliosis, Wrist flexion contracture, Hip contracture, Ankle con... OMIM:620386
Scholte Syndrome
Kyphoscoliosis, Acromicria, Patellar hypoplasia, Decreased testicular size, Micropenis, Short foo... OMIM:300977
Schimke Immuno-Osseous Dysplasia
Abdominal distention, Abnormality of thyroid physiology, Pancreatitis, Anemia, Abnormal proportio... ORPHA:1830
Dermatoosteolysis, Kirghizian Type
Abnormal metaphysis morphology, Abnormality of the hand, Abnormality of the wrist, Tarsal synosto... ORPHA:1657
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Delayed ossification of carpal bones, Irregular acetabular roof, Metaphyseal dysplasia, Platyspon... OMIM:617974
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis... OMIM:179800
Isolated Polycystic Liver Disease
Abdominal distention, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abdominal pain, Feedi... ORPHA:2924
Polymerase Proofreading-Related Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Brain neoplasm, Aden... ORPHA:447877
Attenuated Familial Adenomatous Polyposis
Fibroma, Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the c... ORPHA:220460
Papa Syndrome
Increased circulating antibody level, Lymphadenopathy, Myositis, Arthritis, Crohn's disease, Pust... ORPHA:69126
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Diarrhea, B lymphocytopenia, Erythroderma, Hypoplasia of t... OMIM:603554
Complement Component C1R/C1S Deficiency
Arthritis, Discoid lupus rash, Nephritis OMIM:216950
Mitochondrial Complex I Deficiency, Nuclear Type 8
Kyphoscoliosis, Pancreatitis, Dysphagia OMIM:618230
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Short thumb, Osteoarthritis, Brachydactyly ORPHA:435804
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Enthesitis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Limited mobility of proximal interphalangeal joint, Abnormal metacarpophalangea... ORPHA:85438
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Abdominal distention, Intestinal pseudo-obstruction, Abdominal pain, Constipation, Malabsorption,... OMIM:613662
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Duodenal ulcer, Skin rash, Dysphagia, Early satiety, Recurrent cutaneous abscess formation, Gastr... OMIM:147060
Chst3-Related Skeletal Dysplasia
Kyphoscoliosis, Genu valgum, Cubitus valgus, Rhizomelia, Intervertebral space narrowing, Abnormal... ORPHA:263463
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Kyphoscoliosis, High, narrow palate, Hypermobility of interphalangeal joints, Shuffling gait, Atl... ORPHA:3433
Smith-Mccort Dysplasia 2
Limited elbow extension, Genu valgum, Short metatarsal, Barrel-shaped chest, Pectus carinatum, Hy... OMIM:615222
Albers-Schönberg Osteopetrosis
Abnormal metaphysis morphology, Genu valgum, Abnormal metacarpal morphology, Joint dislocation, A... ORPHA:53
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Aicardi-Goutieres Syndrome 7
Hematemesis, Increased circulating antibody level, Skin rash, Chilblains, Hematochezia, Splenomeg... OMIM:615846
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Melena, Increased circulating antibody level, Diarrhea, Abdominal pa... ORPHA:319218
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Abnormal metaphysis morphology, Increased vertebral height, Short thorax, Platysp... ORPHA:93304
Candidiasis, Familial, 1
Chronic mucocutaneous candidiasis, Cutaneous anergy, Abnormality of the endocrine system OMIM:114580
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Lymphadenopathy, Increased circulating IgG level, Herpes simplex encephal... OMIM:618982
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Abnormal sternum morphology, Hy... ORPHA:457395
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Hematochezia, Colitis OMIM:613148
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Kyphoscoliosis, Platyspondyly, Flat capital femoral epiphysis, Flared metaphysis, Dis... OMIM:612350
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Kyphoscoliosis, Flared iliac wing, Flattened epiphysis, Ataxia, Wormian bones, Broad palm, Short ... OMIM:300232
Whistling Face Syndrome, Recessive Form
Kyphoscoliosis, Shoulder flexion contracture, Elbow flexion contracture, High palate, Camptodacty... OMIM:277720
Spondylometaphyseal Dysplasia, Algerian Type
Kyphoscoliosis, Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysi... OMIM:184253
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Lymphoma, Increased ci... ORPHA:37748
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Hypoplastic iliac wing, Scoliosis, Increased circulating IgE level, Kyphosis, Brachydactyly, Hip ... ORPHA:1858
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cubitus valgus, Abnormality of the ovary, Kyphosis, Gait disturbance, Decreased testicular size, ... ORPHA:1875
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal form of the ... ORPHA:2790
Spondylometaphyseal Dysplasia, A4 Type
Micromelia, Coxa vara, Short palm, Flared, irregular rib ends, Platyspondyly ORPHA:168555
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Pectus excava... OMIM:311300
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:620282
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem... OMIM:601859
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Enterocol... OMIM:614878
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Beaking of vertebral bodies, Platyspondyly, Large tarsal bones, Flared metaphysis, Short long bon... OMIM:215150
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Myelodysplasia, Recurrent in... OMIM:608184
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Jaundice, Cirrhosis, Increased circulating antibody level, Sclerosin... ORPHA:2137
Laron Syndrome
Hypoplasia of penis, Short toe, Osteoarthritis, Brachydactyly, Abnormality of the elbow, Truncal ... ORPHA:633
Congenital Disorder Of Glycosylation, Type Iik
Kyphoscoliosis, Diaphyseal dysplasia, Hemolytic-uremic syndrome, Osteoporosis, Epiphyseal dysplas... OMIM:614727
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Lymphocytosis, Splenomegaly, Neutropenia, Pancytopenia, Fu... OMIM:308240
Combined Oxidative Phosphorylation Deficiency 9
Tubulointerstitial nephritis, Hypertrophic cardiomyopathy OMIM:614582
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level, Periodontitis OMIM:162700
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Kyphoscoliosis, Proximal muscle weakness in upper limbs, Ankle flexion contracture, Distal upper ... OMIM:616668
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Short long bone, Short ribs, Cupped ribs, Metaphyseal irregularity, Genu varum, Metaphyseal cuppi... OMIM:250420
Dominant Beta-Thalassemia
Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, Adrenal insufficiency, Jaundice... ORPHA:231226
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Hypertens... OMIM:263200
Spondylosis, Cervical
Spondylolysis, Spondylolisthesis, Spina bifida occulta, Osteoarthritis, Cervical spondylosis OMIM:184300
Congenital Myopathy 23
Kyphoscoliosis, Difficulty walking, High palate, Scapular winging, Waddling gait, Flexion contrac... OMIM:609285
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Anemia, Pancreatitis, Macrocytic anemia, Thrombocytopenia, Leukopenia, Nausea and v... ORPHA:27
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft palate, Atrophic gastritis, Stomach cancer OMIM:137215
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Decreased glomerular filtration rate, Nephropathy, Renal tubular atrophy, Nephritis, Gout, Renal ... OMIM:162000
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Kyphoscoliosis, Spastic gait, Scoliosis, High palate, Wrist flexion contracture, Shuffling gait, ... OMIM:300055
Dent Disease
Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis... ORPHA:1652
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Conjunctivitis, Renal duplication, Arrhythmia... ORPHA:33001
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Arthropathy, Osteoarthritis OMIM:118600
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the colon, Large intestinal polyposis, ... ORPHA:247798
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Abdominal pain, Lymphoma, Splenomega... ORPHA:100025
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Prune Belly Syndrome
Pectus excavatum, Intestinal malrotation, Congenital posterior urethral valve, Scoliosis, Urogeni... ORPHA:2970
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphoma, Hepatosplenomeg... OMIM:619126
Schneckenbecken Dysplasia
Lateral clavicle hook, Narrow chest, Snail-like ilia, Short ribs, Short long bone, Flat acetabula... OMIM:269250
Talo-Patello-Scaphoid Osteolysis
Short 4th metacarpal, Synovitis, Enlarged joints, Osteolysis of patellae, Osteolysis of talus, Os... ORPHA:50809
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Hematuria, Reticulocytosis, Decreased serum creatinine, Thrombocytopenia, Pr... ORPHA:54057
Ficolin 3 Deficiency
Verrucae, Necrotizing enterocolitis OMIM:613860
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Hypothyroidism, Hepatosplenomegaly, Colonic e... OMIM:618999
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Panniculitis, Scoliosis, Decreased circulating antibody level, High p... ORPHA:3132
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Protein-losing enteropathy, Decreased circula... OMIM:613502
Infantile-Onset X-Linked Spinal Muscular Atrophy
Kyphoscoliosis, Ankle flexion contracture, Elbow flexion contracture, Short ribs, Cupped ribs, Hi... ORPHA:1145
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Stickler Syndrome Type 1
Platyspondyly, Abnormal vertebral epiphysis morphology, Abnormal epiphysis morphology, Cleft pala... ORPHA:90653
Activated Pi3K-Delta Syndrome
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Arthritis, B lympho... ORPHA:397596
Hereditary Spherocytosis
Abdominal distention, Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crise... ORPHA:822
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Decreased circulating IgG level, Brachydactyly, Abnormal epiphysis morph... ORPHA:2643
Immunodeficiency 115 With Autoinflammation
Intermittent diarrhea, Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody ... OMIM:620632
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Pyoderma, Abnormally low T cell receptor excision circle level,... OMIM:242700
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Ehlers-Danlos Syndrome, Hypermobility Type
Joint hypermobility, Loss of ambulation, Osteoarthritis, Joint dislocation OMIM:130020
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Short long bone, Glossoptosis, Broad femoral neck, Butterfly vertebrae, Rhizomeli... OMIM:611209
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Stage 5 chronic kidney disea... OMIM:614376
Warburg Micro Syndrome 1
Kyphoscoliosis, External genital hypoplasia, Osteoporosis, Failure to thrive, Joint hypermobility... OMIM:600118
Immunodeficiency 87 And Autoimmunity
Cholestasis, Hodgkin lymphoma, Lymphopenia, Hepatic steatosis, Decreased CD4:CD8 ratio, Abnormal ... OMIM:619573
Syndactyly, Type V
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... OMIM:186300
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypocystinemia, Decreased circulating antibody level, Decreased serum creatinine, Hypohomocystein... OMIM:617744
Holt-Oram Syndrome
Abnormal clavicle morphology, Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndact... ORPHA:392
Spondylometaphyseal Dysplasia, Axial
Narrow greater sciatic notch, Rhizomelia, Narrow chest, Scoliosis, Coxa vara, Anterior rib cuppin... OMIM:602271
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Anorexia, Lethargy ORPHA:79283
Osteogenesis Imperfecta, Type Xiii
Kyphoscoliosis, Reduced bone mineral density, Limitation of knee mobility, Wide distal femoral me... OMIM:614856
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,... OMIM:184250
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Kyphoscoliosis, Second metatarsal posteriorly placed, Elbow flexion contractu... OMIM:214150
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Carpal bone hypoplasia, Genu valgum, Ivory epiphyses of the toes, Hip subluxation, Small epiphyse... OMIM:226980
Homocystinuria Without Methylmalonic Aciduria
Vomiting, Lethargy ORPHA:622
Arthrogryposis, Distal, Type 2A
Rocker bottom foot, Kyphoscoliosis, Flexion contracture of toe, Wrist flexion contracture, Flexio... OMIM:193700
Restrictive Dermopathy 2
Rectal prolapse, Feeding difficulties, Gastroesophageal reflux OMIM:619793
Rat-Bite Fever
Morbilliform rash, Myocarditis, Pancreatitis, Anemia, Diarrhea, Arthritis, Skin rash, Parotitis, ... ORPHA:31205
Chylous Ascites
Abnormal intestine morphology, Pancreatitis, Neoplasm ORPHA:1160
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Myelody... ORPHA:846
Glycogen Storage Disease Iv
Tubulointerstitial fibrosis, Cardiomyopathy, Portal hypertension, Bradycardia OMIM:232500
Immunodeficiency 11A
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... OMIM:615206
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Nail dystrophy, Trichorrhexis nodosa, Basal cell carcinoma, Squamous cell... OMIM:601675
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Joint stiffness, Abnormal metacarpophalangeal joint morphology, Abnormality of the hand, Synoviti... ORPHA:85408
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Richieri Costa-Da Silva Syndrome
Kyphoscoliosis, Beaking of vertebral bodies, Genu valgum, Generalized bone demineralization, Inab... ORPHA:3101
Osteopetrosis, Autosomal Dominant 2
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Abnormal pel... OMIM:166600
Mitochondrial Complex I Deficiency, Nuclear Type 3
Feeding difficulties, Episodic vomiting, Lethargy OMIM:618224
Osteoarthritis Susceptibility 2
Heberden's node, Osteoarthritis OMIM:140600
Progressive Pseudorheumatoid Arthropathy Of Childhood
Wrist swelling, Hyperlordosis, Generalized osteoporosis, Broad femoral neck, Abnormality of hand ... ORPHA:1159
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Diarrhea, Skin rash, Leukocytosis, Hepatosplenomegaly, Sp... OMIM:618963
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Crohn's disease, Chronic diarrhea, Recurrent vulvov... ORPHA:331235
Spastic Paraplegia 20, Autosomal Recessive
Kyphoscoliosis, Spastic gait, Difficulty walking, Hammertoe, Short foot, Camptodactyly, Urinary u... OMIM:275900
Focal Segmental Glomerulosclerosis 10
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron... OMIM:256020
Contractural Arachnodactyly, Congenital
Kyphoscoliosis, Pectus carinatum, Wrist flexion contracture, Congenital finger flexion contractur... OMIM:121050
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Kyphoscoliosis, Genu recurvatum, Split hand, Hypergonadotropic hypogonadism, Decreased testicular... OMIM:604168
Primary Effusion Lymphoma
Abdominal distention, B-cell lymphoma, Abdominal pain ORPHA:48686
Slipped Femoral Capital Epiphyses
Hip osteoarthritis, Proximal femoral epiphysiolysis OMIM:182260
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Atelosteogenesis, Type Ii
Sandal gap, Bifid humerus, Short greater sciatic notch, Flat acetabular roof, Dumbbell-shaped fem... OMIM:256050
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocyt... OMIM:259710
Primary Sclerosing Cholangitis
Adenocarcinoma of the large intestine, Cholestasis, Acute hepatic failure, Splenomegaly, Polyclon... ORPHA:171
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Kyphoscoliosis, Barrel-shaped chest, Arthritis, Pectus carinatum, Hypoplasia of the odontoid proc... OMIM:184100
Propionic Acidemia
Hepatomegaly, Pancreatitis, Anemia, Pancytopenia, Eczematoid dermatitis, Vomiting, Constipation, ... OMIM:606054
Arthrogryposis, Distal, Type 1A
Rocker bottom foot, Adducted thumb, Overlapping toe, Scoliosis, Elbow flexion contracture, Ulnar ... OMIM:108120
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Elevated circulating creatinine ... OMIM:615605
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Chronic diarrhea, Hepatic steatosis, Microcytic anemia OMIM:618805
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Abnormal epiphysis morphology of the phalanges of the hand, Hip osteoarthritis, Brachydactyly OMIM:619248
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Aplastic anemia, Neoplasm of the thyroid gland, Prostate neoplasm, Myositis, Abnormal lymphocyte ... ORPHA:99867
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Proteinuria, Tubulointerstitial nephritis OMIM:616901
Ck Syndrome
Kyphoscoliosis, High palate, Long fingers, Slender build, Joint hypermobility, Long toe, Lumbar h... ORPHA:251383
Beta-Thalassemia Major
Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume... ORPHA:231214
Peripheral Dysostosis
Short phalanx of finger, Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Lymphoproliferative Syndrome 3
Lymphadenopathy, Decreased circulating antibody level, Partial absence of specific antibody respo... OMIM:618261
Kniest Dysplasia
Tibial bowing, Pectus excavatum, Dumbbell-shaped long bone, Hypoplastic pelvis, Dumbbell-shaped f... OMIM:156550
Cach Syndrome
Pancreatitis, Dysgyria, Optic neuritis, Vomiting, Hepatosplenomegaly, Dysphagia, Feeding difficul... ORPHA:135
Sprengel Deformity
Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Shoulder muscle hyp... OMIM:184400
Li-Fraumeni Syndrome
Rhabdomyosarcoma, Neoplasm of the pancreas, Neoplasm of the larynx, Choriocarcinoma, Hodgkin lymp... ORPHA:524
Familial Mediterranean Fever
Intestinal obstruction, Skin rash, Pericarditis, Acute hepatic failure, Splenomegaly, Nausea and ... ORPHA:342
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportio... OMIM:212050
Nephrotic Syndrome, Type 16
Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Hepatomegaly, Panniculitis, Anemia, Erythroid hypoplasia, High palate, Hypoplas... OMIM:612541
Juberg-Hayward Syndrome
Hypoplasia of the radius, Abnormal vertebral morphology, Abnormality of the wrist, Abnormal metac... ORPHA:2319
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Chronic diarrhea, Skin rash, Sinusitis, Splenomegaly, Aplasia of the thymus, Lymphopenia, Decreas... OMIM:102700
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Lymphoma, Impa... OMIM:613179
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Splenomegaly, Lymphopenia, ... ORPHA:444463
Immunodeficiency 21
Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Myel... OMIM:614172
Tarsal-Carpal Coalition Syndrome
Short finger, Radial deviation of finger, Tarsal synostosis, Distal symphalangism of hands, Cubit... OMIM:186570
Familial Partial Lipodystrophy, Köbberling Type