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Gene: Smad3 MGI:1201674

Gene Summary

Name:

SMAD family member 3

Synonyms:

Madh3, Smad 3

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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
preweaning lethality, complete penetrance		Smad3^em1(IMPC)H	HOM		Early adult	0.00
decreased circulating alkaline phosphatase level		Smad3^em1(IMPC)H	HET		Early adult	5.92×10^-06

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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.

Human diseases associated with Smad3 (3 diseases)
Human diseases predicted to be associated with Smad3 (2323 diseases)

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

Disease	Matching phenotypes	Source
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of fi...	ORPHA:284984
Loeys-Dietz Syndrome 3	Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abnormal sternum morphology, High palate, ...	OMIM:613795
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Arachnodactyly, High, narrow palate, Patent ductus arteriosus, Abnormal sternum morphology, Scoli...	ORPHA:91387

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

Disease	Matching phenotypes	Source
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Plasma Fibronectin Deficiency	Reduced circulating fibronectin level	OMIM:614101
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Chronic diarrhea, Recurrent pne...	OMIM:619281
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Lymphopenia, Eczema, Autoimmune hemoly...	OMIM:616100
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Hemolytic anemia, Pancytopenia, Lymphoproliferative disorder, Follicular hyperplasi...	OMIM:614470
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Monocytopenia, Generalized lymphadenopathy,...	OMIM:618986
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Immunodeficiency 57 With Autoinflammation	Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Decreased circulating antibody ...	OMIM:618108
Pseudoachondroplasia	Irregular acetabular roof, Limited hip extension, Distal joint laxity, Metaphyseal widening, Dela...	ORPHA:750
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Chronic diarrhea, Anemia, Leukopenia, I...	OMIM:615285
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri...	OMIM:615862
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Uveitis, Inflammation of the la...	OMIM:614700
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Decreased circulating antibody level, Abnormal...	OMIM:613101
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, S...	OMIM:300635
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R...	OMIM:300400
Peutz-Jeghers Syndrome	Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Neop...	ORPHA:2869
Immunodeficiency 18	Defective T cell proliferation, Recurrent gastroenteritis, Recurrent otitis media, Decreased prop...	OMIM:615615
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Immunodeficiency 76	B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Chronic diarrhea, Lymphadenopathy, T lymphocy...	OMIM:619164
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Abn...	ORPHA:85198
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Myelodysplasia, Lymphoma, Leukopenia, Monocyto...	OMIM:616871
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna...	ORPHA:3268
Liebenberg Syndrome	Metaphyseal widening, Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contractur...	OMIM:186550
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Immunodeficiency 15B	Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decrease...	OMIM:615592
Volvulus Of Midgut	Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv...	OMIM:193250
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Neoplasm of the skeletal system, Abdominal pain, Rectal prolapse, Neoplasm of the ...	ORPHA:424019
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Waddling gait, Lumbar ...	ORPHA:99642
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea	OMIM:619398
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Short metatarsal, Abnorm...	ORPHA:93351
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol...	ORPHA:166011
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration	ORPHA:206599
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy...	ORPHA:228302
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,...	OMIM:256100
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Abdominal pain	OMIM:118830
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Radial Hemimelia	Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H...	ORPHA:93321
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer...	OMIM:603860
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios...	OMIM:222600
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Tibiofibular diastasis, Joint stiffness...	ORPHA:566943
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology	OMIM:602114
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circu...	OMIM:618394
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Increased inflammatory response, Protrusio acetabuli, Abnormal femoral head morpholog...	ORPHA:2619
Autoimmune Lymphoproliferative Syndrome	Non-Hodgkin lymphoma, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, Lymph...	ORPHA:3261
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Trehalase Deficiency	Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting	ORPHA:103909
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan...	OMIM:617006
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber...	OMIM:156530
Pseudoachondroplasia	Limited hip extension, Genu recurvatum, Spatulate ribs, Metaphyseal widening, Delayed epiphyseal ...	OMIM:177170
Hirschsprung Disease	Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Abdomin...	ORPHA:388
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Vomi...	ORPHA:37042
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:613944
Solitary Rectal Ulcer Syndrome	Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con...	ORPHA:209964
Multiple Epiphyseal Dysplasia Type 1	Waddling gait, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital...	ORPHA:93308
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Feeding di...	OMIM:617241
Epiphyseal Dysplasia, Multiple, 1	Waddling gait, Epiphyseal dysplasia, Short metacarpal, Ovoid vertebral bodies, Joint stiffness, A...	OMIM:132400
Spondyloepimetaphyseal Dysplasia, Irapa Type	Waddling gait, Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum,...	OMIM:271650
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, ...	OMIM:616576
Progressive Pseudorheumatoid Dysplasia	Arthropathy, Enlarged epiphyses, Metaphyseal widening, Osteoarthritis, Coxa vara, Sclerotic verte...	OMIM:208230
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Eczema, Anal fissure, Abscess, Perianal abscess, Splenomega...	OMIM:618935
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Waddling gait, Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patel...	ORPHA:166002
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Immunodeficiency 70	Decreased circulating total IgG, Celiac disease, Decreased circulating antibody level, Decreased ...	OMIM:618969
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Metaphyseal widening, Delayed ep...	ORPHA:93314
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o...	OMIM:182255
Epiphyseal Dysplasia, Multiple, 6	Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth...	OMIM:614135
Craniosynostosis, Adelaide Type	Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m...	OMIM:600593
Brachyolmia Type 1, Hobaek Type	Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ...	OMIM:271530
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa...	OMIM:613330
Immunodeficiency 108 With Autoinflammation	Abdominal pain, Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Impaired ne...	OMIM:260570
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost...	OMIM:251450
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Chronic diarrhea, Abnormal ly...	ORPHA:911
Axin2-Related Attenuated Familial Adenomatous Polyposis	Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, Colon cancer, Sparse...	ORPHA:401911
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab...	ORPHA:429
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost...	OMIM:609052
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto...	OMIM:300853
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Osteochondrosis Of The Tarsal Bone	Antalgic gait, Tarsal sclerosis, Arthritis, Tarsal stippling, Chondritis, Abnormal tarsal ossific...	ORPHA:563991
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Monocytosis, Increased circulating IgM ...	ORPHA:2688
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium	OMIM:616868
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C...	ORPHA:968
Hereditary Mixed Polyposis Syndrome	Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi...	ORPHA:157794
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i...	OMIM:266600
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Fe...	ORPHA:98813
Immunodeficiency, Common Variable, 11	Mucoid diarrhea, Increased circulating IgE level, Decreased proportion of class-switched memory B...	OMIM:615767
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Chronic diarrhea, Increased circulating IgE level, Atopic dermatitis, Br...	OMIM:617638
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ...	ORPHA:1836
Desmoid Tumor	Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin...	ORPHA:873
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ...	ORPHA:103907
Adiposis Dolorosa	Abdominal distention, Constipation, Depression, Painful subcutaneous lipomas	OMIM:103200
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Hepatosplenomegaly, Sterile arthritis, Art...	OMIM:604416
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis...	OMIM:612840
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ...	OMIM:243150
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence...	OMIM:616098
Autoinflammation With Infantile Enterocolitis	Villous atrophy, Pancytopenia, Skin rash, Reduced natural killer cell activity, Feeding difficult...	OMIM:616050
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Hypertension, ...	OMIM:602088
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Elevated circulating creatine kinase concentration	ORPHA:88635
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Intestinal obstruction, Hypopigmentation of hair, Aganglionic megaco...	ORPHA:897
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the...	OMIM:130060
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Lymphoproliferative disorder, Decreased CD4:CD8 rat...	OMIM:615897
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Anorexia, T lymphocytopenia, Colitis, Vom...	OMIM:619381
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ...	OMIM:620056
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o...	OMIM:609616
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp...	ORPHA:454840
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Muir-Torre Syndrome	Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ...	OMIM:158320
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n...	OMIM:608203
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the stomach...	ORPHA:44890
Desmoid Disease, Hereditary	Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma	OMIM:135290
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ...	ORPHA:227990
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Waddling gait, Lumbar hyperlordosis, Broad hallux, Short thumb, Premature osteoarthritis, Hip ost...	OMIM:165800
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Diarrhea, Recurrent pneumonia, B...	OMIM:607594
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul...	OMIM:607078
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Nausea and vomiting, Hepatomegaly, Anorexia, Abdominal pain, Splenomegaly, Thrombocytopenia, Feed...	ORPHA:79312
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno...	ORPHA:2494
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Membranoproliferative glomerulonephritis, Maculopapular exan...	OMIM:619644
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Abdominal pain, Eo...	ORPHA:486
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta...	OMIM:617056
Osteoarthritis With Mild Chondrodysplasia	Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla...	OMIM:604864
Infantile Myofibromatosis	Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ...	ORPHA:2591
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Leuk...	ORPHA:227982
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Hemolyti...	ORPHA:809
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Neoplasm of the adrenal gland, Ep...	ORPHA:251992
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra...	OMIM:614723
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Vertebra...	OMIM:617719
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Multip...	ORPHA:93360
Epiphyseal Dysplasia, Multiple, 2	Waddling gait, Epiphyseal dysplasia, Broad-based gait, Tibial torsion, Knee osteoarthritis, Flatt...	OMIM:600204
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612924
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha...	OMIM:184252
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Glycosuria, Tubulointer...	OMIM:618913
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Pseudomyxoma Peritonei	Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,...	ORPHA:26790
Shwachman-Diamond Syndrome	Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone stimulation t...	ORPHA:811
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:270150
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Microscopic hematur...	ORPHA:567544
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v...	ORPHA:40
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn...	OMIM:617585
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612926
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent...	OMIM:240500
Epiphyseal Dysplasia, Multiple, 3	Abnormal hip joint morphology, Short metacarpal, Epiphyseal dysplasia, Delayed epiphyseal ossific...	OMIM:600969
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A...	OMIM:619079
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Abnormal intervertebral disk morphology, Osteoarthritis, Limitation of joint m...	ORPHA:1416
Familial Avascular Necrosis Of Femoral Head	Limited hip movement, Abnormal femoral neck/head morphology, Hip osteoarthritis, Flattened femora...	ORPHA:86820
Scheuermann Disease	Kyphosis, Osteochondrosis, Morbus Scheuermann	OMIM:181440
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Familial Adenomatous Polyposis 3	Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma...	OMIM:616415
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:161950
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurrent otitis media	OMIM:266265
Dystonia 31	Depression, Abnormal posturing, Dysphagia	OMIM:619565
Immunodeficiency 32B	Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, B...	OMIM:226990
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Irregular vertebral endplates, Knee dislocation, High palate, Hyperlordosis, Short thorax, Obesit...	OMIM:618363
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short met...	ORPHA:93307
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum...	OMIM:617405
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Diarrhea,...	ORPHA:277
Immunodeficiency 104	Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymph...	OMIM:608971
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema...	OMIM:174900
Myopathic Ehlers-Danlos Syndrome	Multiple joint contractures, High, narrow palate, Flexion contracture, Knee flexion contracture, ...	ORPHA:536516
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Abdominal colic, Vomiting, Diarrhea	ORPHA:35122
Parastremmatic Dwarfism	Bowing of the long bones, Short neck, Kyphosis, Genu valgum, Scoliosis	OMIM:168400
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Cervi...	ORPHA:2686
Small Bowel Atresia	Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif...	ORPHA:1201
Beukes Hip Dysplasia	Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Osteoarthrit...	OMIM:142669
Spondyloepimetaphyseal Dysplasia, Missouri Type	Waddling gait, Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthr...	OMIM:602111
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim...	ORPHA:174
Spondyloepiphyseal Dysplasia, Kimberley Type	Micromelia, Osteoarthritis, Short thorax, Platyspondyly, Abnormal epiphysis morphology	ORPHA:93283
Crome Syndrome	Renal tubular epithelial necrosis	OMIM:218900
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnormal form of the ver...	ORPHA:1354
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Apc-Related Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco...	ORPHA:247806
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn...	OMIM:102510
Ankylosing Vertebral Hyperostosis With Tylosis	Abnormal pelvis bone morphology, Osteoarthritis, Obesity, Palmoplantar keratoderma, Abnormality o...	ORPHA:2206
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Anorexia, Hematolo...	ORPHA:824
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral...	OMIM:223800
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Female hypogonadism, Decreased ...	OMIM:240300
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo...	ORPHA:73263
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia, Myelodysplasia	OMIM:162830
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in...	OMIM:619313
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Maternal Uniparental Disomy Of Chromosome 9	Kyphoscoliosis, Short neck, Hamstring contractures, Patellar dislocation, Osteochondrosis, Failur...	ORPHA:96183
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Reduced natural killer cell activity, Splenomeg...	ORPHA:540
Burkitt Lymphoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Neoplas...	ORPHA:543
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Chronic ...	OMIM:209920
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, External genital hypoplasia, Patellar hypoplasia, Dysmet...	ORPHA:3041
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati...	ORPHA:276
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi...	OMIM:619220
Syndromic Diarrhea	Hepatomegaly, Villous atrophy, Lymphopenia, Gastritis, Hepatoblastoma, Increased mean platelet vo...	ORPHA:84064
Nemaline Myopathy 7	Waddling gait, Lumbar hyperlordosis, Genu recurvatum, Kyphoscoliosis, Knee flexion contracture, S...	OMIM:610687
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Short neck, Tapered finger, Multiple joint dislocation, Hip dislocation, ...	OMIM:618395
Multiple Epiphyseal Dysplasia Type 5	Back pain, Osteoarthritis of the small joints of the hand, Decreased hip abduction, Abnormal uppe...	ORPHA:93311
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr...	ORPHA:49041
Neuroendocrine Neoplasm Of Appendix	Nausea and vomiting, Abdominal colic, Mechanical ileus, Functional intestinal obstruction, Anorex...	ORPHA:100079
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol...	ORPHA:85166
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metatarsal heads, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Flattened metacarp...	OMIM:271600
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Single transverse palmar crease, Short neck, Knee flexion contracture...	OMIM:114300
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Spleno...	OMIM:602450
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ...	ORPHA:79501
Intestinal Dysmotility Syndrome	Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d...	OMIM:620045
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnor...	ORPHA:1427
Mismatch Repair Cancer Syndrome 1	Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ...	OMIM:276300
Spondyloepiphyseal Dysplasia, Stanescu Type	Waddling gait, Stiff neck, Kyphoscoliosis, Joint stiffness, Coxa valga, Hypoplastic ilia, Vertebr...	OMIM:616583
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Premature pubarche, Acne, Kyphoscoliosis, Bowing of the legs, Secondary amenorrhea, Irregular ver...	OMIM:612847
Winchester Syndrome	Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals	OMIM:277950
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ...	OMIM:619445
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Abdominal pain, Rectal...	ORPHA:424016
Progressive Osseous Heteroplasia	Abnormality of the parathyroid gland, Limitation of joint mobility, Osteoarthritis, Ectopic ossif...	ORPHA:2762
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Abnormal ...	ORPHA:2635
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit...	ORPHA:168549
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps...	ORPHA:183675
Brachyolmia Type 1, Toledo Type	Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica...	OMIM:271630
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Anterior uveitis, Hemolytic anemia, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia	OMIM:616744
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Kyphosis, Joint hyperflexibility, Hypogonadism, Gait disturbance, Cubi...	ORPHA:1875
Osteoarthritis Susceptibility 3	Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal interphalangeal j...	OMIM:607850
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Severe Canavan Disease	Oral-pharyngeal dysphagia, Gastrostomy tube feeding in infancy, Feeding difficulties, Gastroesoph...	ORPHA:314911
Immunodeficiency 40	Hepatomegaly, Rectal fistula, Recurrent pneumonia, Chronic diarrhea, Eosinophilic granuloma, T ly...	OMIM:616433
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Diarrhea, Leukocytosis, Enlar...	OMIM:209950
Kienbock Disease	Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist	ORPHA:97332
Pelvic Organ Prolapse, Susceptibility To	Rectal prolapse, Bowel incontinence	OMIM:176780
Legg-Calvé-Perthes Disease	Cartilage destruction, Joint dislocation	ORPHA:2380
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Gastritis, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megaloblast...	ORPHA:2575
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Decreased circulating antibody level, Leukopenia, Colitis, Bone marrow hypoc...	OMIM:615190
Peritoneal Cystic Mesothelioma	Dyspareunia, Metrorrhagia, Abdominal pain, Abdominal distention, Peritonitis, Neoplasm, Constipat...	ORPHA:168816
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat...	ORPHA:239
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi...	OMIM:313400
Gastrointestinal Stromal Tumor	Intestinal obstruction, Gastrointestinal stroma tumor, Neurofibroma, Constipation, Dysphagia	OMIM:606764
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, External genital hypoplasia, Craniosynostosis, Kyp...	ORPHA:65759
Nephrotic Syndrome, Type 23	Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome...	OMIM:619201
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Roussy-Lévy Syndrome	Kyphoscoliosis, Unsteady gait, Limb ataxia, Gait ataxia, Genu valgum, Intrinsic hand muscle atrop...	ORPHA:3115
Angel-Shaped Phalangoepiphyseal Dysplasia	Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr...	OMIM:105835
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Arthritis, Inflammation...	OMIM:301074
Holt-Oram Syndrome	Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Pectu...	OMIM:142900
Malignant Peritoneal Mesothelioma	Abdominal pain, Abdominal distention, Peritonitis, Ileus, Neoplasm	ORPHA:168811
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,...	OMIM:619924
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Overlapping toe, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger	OMIM:618453
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Kyphoscoliosis, Cryptorchidism, Kyphosis, Flexion contracture, Bilater...	OMIM:618484
Spastic Paraplegia 18B, Autosomal Recessive	Inability to walk, Kyphosis, Ankle clonus, Gait disturbance, High palate, Scoliosis, Joint contra...	OMIM:611225
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Flat capital femoral epiphysis, Pectus carinatum, Genu valgum, Irregular ve...	OMIM:609223
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis, Hip dysplasia, Coxa valga	OMIM:615612
Eng-Strom Syndrome	Camptodactyly of finger, Pectus excavatum, Arthritis, Scoliosis, Brachydactyly	ORPHA:1937
Congenital Pancreatic Cyst	Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting, Pancreatitis	ORPHA:313906
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Tongue atrophy, Kyphoscoliosis, Upper limb amyotrophy, K...	ORPHA:496689
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:616629
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Short neck, Metaph...	OMIM:255800
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Pectus excavatum, Osteoarthritis, Cleft palate, Pectus carinatum, Glossoptosis, Abnormal metacarp...	ORPHA:166100
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ...	OMIM:615237
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Peripheral Dysostosis	Joint stiffness, Osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly...	ORPHA:1795
Cranio-Osteoarthropathy	Abnormality of the knee, Eczema, Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Club...	ORPHA:1525
Early Myoclonic Encephalopathy	Lethargy, Feeding difficulties, Poor suck, Dysphagia	ORPHA:1935
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Multiple ga...	ORPHA:733
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Mutyh-Related Attenuated Familial Adenomatous Polyposis	Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte...	ORPHA:247798
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Bronchiectasis, Lymphadenopathy, Decreased proportion of class-switched memory B ce...	OMIM:615513
Familial Adenomatous Polyposis 1	Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla...	OMIM:175100
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Enlarged epiphyses, Epiphyseal dysplasia, Premature osteoarthritis, Cleft palate, Platyspondyly	OMIM:184840
Primary Peritoneal Carcinoma	Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Neoplasm, Constipation	ORPHA:168829
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Renal insufficiency, Proteinuria, Renal interstitial amyloid deposit...	ORPHA:85450
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly...	ORPHA:160148
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo...	ORPHA:97286
Blue Rubber Bleb Nevus	Rectal prolapse, Intestinal bleeding, Hemangioma, Volvulus, Intussusception, Cerebellar medullobl...	OMIM:112200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E...	ORPHA:228308
Dysplasia Epiphysealis Hemimelica	Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiffness, Osteoa...	ORPHA:1822
Interstitial Pneumonitis, Desquamative, Familial	Tubulointerstitial fibrosis	OMIM:263000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Nausea and vomiting, Hepatomegaly, Thrombocytopenia, Neutropenia, Pancreatitis, Anemia	ORPHA:289916
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora...	ORPHA:474
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Joint hyperflexibility, Hip dysplasia, Short middle phalanx of finger, Abnorm...	ORPHA:63442
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ...	OMIM:187760
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Skin rash, Cardiac arrest, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tub...	ORPHA:139402
Ehlers-Danlos Syndrome, Classic-Like, 2	Hallux valgus, Osteopenia, Thoracic scoliosis, Short neck, Cryptorchidism, Osteoarthritis, Genera...	OMIM:618000
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Nausea and vomiting, Testicular neoplasm, Abdominal pain, Abdominal dis...	ORPHA:83469
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis, Pectus carinatum, Delayed ossification of carpal bones, Short femoral neck, Brachydactyly	OMIM:618392
Stickler Syndrome, Type I	Arthropathy, Arachnodactyly, Joint stiffness, Pectus excavatum, Kyphosis, Irregular femoral epiph...	OMIM:108300
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Chro...	OMIM:619858
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Sinusitis, Increased inflammatory res...	ORPHA:183
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ...	ORPHA:70475
Mirage Syndrome	Lymphopenia, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Myelodysplasia, Cryptorchidism, ...	OMIM:617053
Lissencephaly Syndrome, Norman-Roberts Type	4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly, Feeding difficult...	ORPHA:89844
Immunodeficiency 50	Lymphopenia, Neutropenia, Eczema, Decreased circulating antibody level	OMIM:300988
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Metaphyseal widening, Delayed epiphyseal ossification, Abnormal v...	ORPHA:93352
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Abdominal pain, Malabsorption, Abdominal distention, Gastrointesti...	OMIM:613662
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgG level, Iron deficiency anemia, Increased B cell count, Decreased lympho...	OMIM:603909
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the hand, Abnormality of the wrist, Keratitis, Osteoarthritis, ...	ORPHA:1657
Polymerase Proofreading-Related Adenomatous Polyposis	Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ...	ORPHA:447877
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spinal rigidity, Scoliosis...	OMIM:620386
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio...	ORPHA:2924
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p...	ORPHA:220460
Legionnaires Disease	Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Splenomegaly, Myocarditis, Diarrhea,...	ORPHA:549
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Abdominal pain, Rectal prolapse, Multiple gastric polyps, Breast carcin...	OMIM:175200
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c...	ORPHA:69126
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Diarrhea, Thromboc...	OMIM:603554
Schimke Immuno-Osseous Dysplasia	Lumbar hyperlordosis, Non-Hodgkin lymphoma, Impaired T cell function, Abnormality of thyroid phys...	ORPHA:1830
Li-Fraumeni Syndrome	Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer...	ORPHA:524
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Diastrophic Dysplasia	Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Symphal...	ORPHA:628
Scholte Syndrome	Kyphoscoliosis, Acromicria, Small hand, Patellar hypoplasia, Short foot, Micropenis, Decreased te...	OMIM:300977
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of...	OMIM:608728
Mitochondrial Complex I Deficiency, Nuclear Type 8	Pancreatitis, Kyphoscoliosis, Dysphagia	OMIM:618230
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Platyspondyly, Delayed ossification of carpal bones, I...	OMIM:617974
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly	OMIM:607624
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Broad hallux, Kyphoscoliosis, High, narrow palate, Shuffling gait, Hypermobility of interphalange...	ORPHA:3433
Albers-Schönberg Osteopetrosis	Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized oste...	ORPHA:53
Chst3-Related Skeletal Dysplasia	Barrel-shaped chest, Waddling gait, Short metacarpal, Enlarged joints, Rhizomelia, Kyphoscoliosis...	ORPHA:263463
Enthesitis-Related Juvenile Idiopathic Arthritis	Back pain, Abnormal metatarsal morphology, Knee osteoarthritis, Enthesitis, Abnormal shoulder mor...	ORPHA:85438
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi...	OMIM:603546
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas...	OMIM:614878
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab...	OMIM:123550
Candidiasis, Familial, 1	Abnormality of the endocrine system, Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:114580
Smith-Mccort Dysplasia 2	Barrel-shaped chest, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Hyper...	OMIM:615222
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat...	ORPHA:457395
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,...	OMIM:618982
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Autosomal Dominant Brachyolmia	Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp...	ORPHA:93304
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Joint laxity, Short metacarpal, Waddling gait, Camptodactyly of finger, Kyphoscoliosi...	OMIM:612350
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Impaired T cell function, Pure red cell aplasi...	OMIM:613179
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology	OMIM:609886
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the vertebral bodies, Clavicu...	ORPHA:2790
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hepatic steatosis, Hypothyroidi...	OMIM:615846
Spondylometaphyseal Dysplasia, A4 Type	Micromelia, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm	ORPHA:168555
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Increased circula...	ORPHA:37748
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor...	OMIM:311300
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Brachydactyly, Kyphosis, Increased circulating IgE level, Hip dysplasia, Scoliosis, Hypoplastic i...	ORPHA:1858
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti...	OMIM:620282
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp...	OMIM:300232
Whistling Face Syndrome, Recessive Form	Shoulder flexion contracture, Kyphoscoliosis, Short neck, Elbow flexion contracture, Knee flexion...	OMIM:277720
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:601859
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina...	ORPHA:319218
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Abdo...	ORPHA:2137
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly...	OMIM:608184
Combined Oxidative Phosphorylation Deficiency 9	Tubulointerstitial nephritis, Hypertrophic cardiomyopathy	OMIM:614582
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi...	OMIM:162000
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Neutropenia, Chronic Familial	Neutropenia, Periodontitis, Increased circulating antibody level	OMIM:162700
Charcot-Marie-Tooth Disease, Axonal, Type 2X	Proximal muscle weakness in upper limbs, Kyphoscoliosis, Ankle flexion contracture, Distal upper ...	OMIM:616668
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Laron Syndrome	Hypoplasia of penis, Short toe, Osteoarthritis, Abnormality of the elbow, Truncal obesity, Brachy...	ORPHA:633
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate	OMIM:137215
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,...	ORPHA:231226
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Metaphyseal dysplasia, Epiphyseal dysplasia, Kyphoscoliosis, Hemolytic-uremic syndr...	OMIM:614727
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Lumbar hyperlordosis, Enlarged joints, Large tarsal bones, Flexion contract...	OMIM:215150
Spondylosis, Cervical	Osteoarthritis, Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis	OMIM:184300
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp...	ORPHA:79233
Chondrocalcinosis 2	Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis	OMIM:118600
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
Congenital Myopathy 23	Waddling gait, Scapular winging, Kyphoscoliosis, Flexion contracture, High palate, Difficulty wal...	OMIM:609285
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differentiation, Hema...	OMIM:263200
Arthrogryposis, Distal, Type 1A	Congenital hip dislocation, Single transverse palmar crease, Calcaneovalgus deformity, Knee flexi...	OMIM:108120
Vitamin B12-Unresponsive Methylmalonic Acidemia	Nausea and vomiting, Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Leukopenia, Pancreatitis,...	ORPHA:27
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous ...	OMIM:618999
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis...	OMIM:250420
Richieri Costa-Da Silva Syndrome	Joint dislocation, Kyphoscoliosis, Short neck, Metatarsus adductus, Inability to walk, Limitation...	ORPHA:3101
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Paten...	ORPHA:33001
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Alpha-Heavy Chain Disease	Abnormal small intestine morphology, Hepatomegaly, Dysgammaglobulinemia, Malabsorption, Abdominal...	ORPHA:100025
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Lymphoma, Bronchiectasis, Hepatosplenomegaly, Decreased proportion of cla...	OMIM:619126
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology, Decreased circulating total IgM, Abnormal epiphysis morphology, Decrease...	ORPHA:2643
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Maculopapular exanthema, Spontaneous...	ORPHA:822
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Lymphoma, Bronchiectasis, Lymphaden...	ORPHA:397596
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubulointerstitial...	OMIM:251000
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, Aplasia of the thymus, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Hepato...	OMIM:242700
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemolytic ...	OMIM:308230
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the...	ORPHA:171
Say-Barber-Miller Syndrome	Thoracic kyphoscoliosis, Eczema, Erythema nodosum, Cryptorchidism, Transient hypogammaglobulinemi...	ORPHA:3132
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O...	ORPHA:50809
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac...	OMIM:308240
Stickler Syndrome Type 1	Osteoarthritis, Cleft palate, Joint hyperflexibility, Platyspondyly, Abnormal epiphysis morpholog...	ORPHA:90653
Prune Belly Syndrome	Congenital hip dislocation, Vertebral segmentation defect, Abnormality of the uterus, Vesicourete...	ORPHA:2970
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Glycogen Storage Disease Iv	Cardiomyopathy, Portal hypertension, Tubulointerstitial fibrosis	OMIM:232500
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Selective Igm Deficiency	Fasciitis, Non-Hodgkin lymphoma, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infec...	ORPHA:331235
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco...	ORPHA:1145
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol...	OMIM:614856
Restrictive Dermopathy 2	Rectal prolapse, Gastroesophageal reflux, Feeding difficulties	OMIM:619793
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h...	OMIM:252600
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy, Anorexia	ORPHA:79283
Holt-Oram Syndrome	Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc...	ORPHA:392
Schneckenbecken Dysplasia	Hypoplastic scapulae, Ovoid vertebral bodies, Anterior rib cupping, Short neck, Lateral clavicle ...	OMIM:269250
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ...	ORPHA:54057
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Ataxia, Kyphoscoliosis, Short neck, Flexion contracture, Small hand, Obesity, Choreoathetosis, Hi...	OMIM:300055
Ficolin 3 Deficiency	Necrotizing enterocolitis, Verrucae	OMIM:613860
Homocystinuria Without Methylmalonic Aciduria	Lethargy, Vomiting	ORPHA:622
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the...	OMIM:184250
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Barrel-shaped chest, Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivo...	OMIM:226980
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Brittle hair, Trichoschisis, Malabsorption, Chronic diarrhea, Squamous ce...	OMIM:601675
Chylous Ascites	Neoplasm, Abnormal intestine morphology, Pancreatitis	ORPHA:1160
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Warburg Micro Syndrome 1	Overlapping toe, External genital hypoplasia, Kyphoscoliosis, Cryptorchidism, Osteoporosis, Failu...	OMIM:600118
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo...	OMIM:614376
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Short neck, Glossoptosis, Verteb...	OMIM:611209
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity	OMIM:613375
Cerebrooculofacioskeletal Syndrome 1	Small for gestational age, Rocker bottom foot, Kyphoscoliosis, Coxa valga, Cryptorchidism, Flexio...	OMIM:214150
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Mandibular osteomyelitis, Thrombocytop...	OMIM:259710
Immunodeficiency 87 And Autoimmunity	Villous atrophy, Atrophic gastritis, Abnormal lymphocyte proliferation, Secretory diarrhea, Hepat...	OMIM:619573
Mitochondrial Complex I Deficiency, Nuclear Type 3	Lethargy, Episodic vomiting, Feeding difficulties	OMIM:618224
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Rat-Bite Fever	Back pain, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pus...	ORPHA:31205
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Genu valgum, Slender long bones with narrow diaphyses, Abnormal rib cage morphology, Long thorax,...	OMIM:608154
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal metatarsal morphology, Flexion contracture, Knee osteoarthritis, Uveitis, Enthesitis, Ab...	ORPHA:85408
Arthrogryposis, Distal, Type 2A	Joint dislocation, Short neck, Knee flexion contracture, High palate, Spina bifida occulta, Wrist...	OMIM:193700
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Brachydactyly	OMIM:618618
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa var...	OMIM:608940
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Short thumb, Osteoarthritis, Brachydactyly	ORPHA:435804
Slipped Femoral Capital Epiphyses	Hip osteoarthritis, Proximal femoral epiphysiolysis	OMIM:182260
Preeclampsia	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c...	ORPHA:275555
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Microcytic anemia, Chronic diarrhea, Hepatic steatosis, Pancreatitis	OMIM:618805
Propionic Acidemia	Hepatomegaly, Pancytopenia, Eczema, Poor appetite, Feeding difficulties in infancy, Thrombocytope...	OMIM:606054
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ...	OMIM:184100
Spastic Paraplegia 20, Autosomal Recessive	Ulnar deviation of the hand, Kyphoscoliosis, Flexion contracture, Hyperextensible hand joints, Dy...	OMIM:275900
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Proteinuria	OMIM:616901
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Chron...	OMIM:212050
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspon...	OMIM:602271
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Cach Syndrome	Hepatosplenomegaly, Feeding difficulties, Vomiting, Optic neuritis, Dysphagia, Pancreatitis, Dysg...	ORPHA:135
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Tubulointerstitial nephrit...	OMIM:617595
Primary Effusion Lymphoma	Abdominal distention, B-cell lymphoma, Abdominal pain	ORPHA:48686
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Spinal c...	OMIM:307800
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Contractural Arachnodactyly, Congenital	Osteopenia, Short neck, Pectus carinatum, Knee flexion contracture, High palate, Wrist flexion co...	OMIM:121050
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly	OMIM:619248
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli...	OMIM:619705
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Splenomegaly, Cryptorchidism, Eryt...	OMIM:612541
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Peripheral Dysostosis	Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver...	OMIM:184400
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Lumbar hyperlordosis, ...	OMIM:256050
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m...	ORPHA:2319
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,...	ORPHA:231214
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Diarrhea, Leukocytosis, Hepatosplenomegaly, Thrombocytosis...	OMIM:618963
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ...	ORPHA:157798
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent skin infections, Decreased circulating IgA level, Decreased circulating antibody level,...	OMIM:617744
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Hepatic steatosis, Pancrea...	ORPHA:79084
Ck Syndrome	Long toe, Lumbar hyperlordosis, Kyphoscoliosis, Long fingers, High palate, Slender build, Joint h...	ORPHA:251383
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Eczema, Abdominal pain, Splenomegaly, Lymphadenitis, Chronic diarrhea, Leukocytosis...	OMIM:615895
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Cubitus valgus, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints...	OMIM:186570
Indolent Systemic Mastocytosis	Hepatomegaly, Skin rash, Maculopapular exanthema, Hematological neoplasm, Splenomegaly, Lymphaden...	ORPHA:98848
Hyperekplexia 4	Kyphoscoliosis, Flexion contracture, Distal arthrogryposis, High palate, Talipes equinovarus, Cam...	OMIM:618011
Immunodeficiency 61	Frequent Giardia lamblia infestation, Decreased circulating IgG4 level, Malabsorption, Obesity, A...	OMIM:300310
Agammaglobulinemia, X-Linked	T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ...	OMIM:300755
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl...	OMIM:615633
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Ataxia, Kyphoscoliosis, Genu recur...	OMIM:604168
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Abnormal lymphocyte proliferation, Abnormal lympho...	ORPHA:99867
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Short metacarpal, Scapular winging, Ivory epiphyses of the distal phalanges of the ha...	OMIM:190350
Intermediate Uveitis	Anterior uveitis, Psoriasiform dermatitis, Vasculitis, Tubulointerstitial nephritis, Optic neuritis	ORPHA:279914
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Arthropathy, Abnormal intervertebral disk morphology, Intestinal pse...	ORPHA:85446
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neopl...	OMIM:614172
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Sinusitis, Severe B lymphocytopenia, Hepatomegaly, B-cell lymphoma, Autoimmune thrombocytopenia, ...	OMIM:102700
Igg4-Related Pachymeningitis	Abnormality of the cervical spine, Low back pain, Sinusitis, Eosinophilia, Increased circulating ...	ORPHA:449427
Tularemia	Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology...	ORPHA:3392
Progressive Pseudorheumatoid Arthropathy Of Childhood	Irregularity of vertebral bodies, Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulde...	ORPHA:1159
Lymphoproliferative Syndrome 3	Lymphoproliferative disorder, Hodgkin lymphoma, Hepatosplenomegaly, Decreased circulating antibod...	OMIM:618261
Kniest Dysplasia	Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal ...	OMIM:156550
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Metaphyseal dysplasia, Epiphyseal dysplasia, Single transverse palmar crease, Kyphoscoliosis, Cox...	OMIM:617425
Cerebrooculofacioskeletal Syndrome 4	Failure to thrive in infancy, Camptodactyly of finger, Rocker bottom foot, Kyphoscoliosis, Adduct...	OMIM:610758
Juberg-Hayward Syndrome	Aplasia/Hypoplasia of the thumb, Abnormal toe morphology, Abnormal carpal morphology, Limited elb...	OMIM:216100
Trimethylaminuria	Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia	OMIM:602079
5-Oxoprolinase Deficiency	Diarrhea, Vomiting, Enterocolitis, Abdominal pain	OMIM:260005
Ehlers-Danlos Syndrome, Hypermobility Type	Joint laxity, Osteoarthritis, Joint dislocation, Joint hypermobility	OMIM:130020
Benign Recurrent Intrahepatic Cholestasis	Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Chronic diarrhea, Acholic stools, Choles...	ORPHA:65682
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Conjunctiviti...	OMIM:603552
Flynn-Aird Syndrome	Increased bone mineral density, Ataxia, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased ...	OMIM:136300
Pyoderma Gangrenosum	Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Increased circulating ant...	ORPHA:48104
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Osteoarthritis, Abnormal intervertebral disk morphology, Platyspondyly, Joint stiffness	ORPHA:1345
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx ...	OMIM:184260
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate...	OMIM:609655
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura...	OMIM:600802
Methylmalonic Acidemia With Homocystinuria	Lethargy, Feeding difficulties	ORPHA:26
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Impaired T cell function, Abnormal cortical gyration, Splenomegaly, C...	OMIM:614576
Glucose/Galactose Malabsorption	Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption	OMIM:606824
Mosaic Trisomy 14	Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short neck, Cryptorchidism, Abnormal r...	ORPHA:1703
Seckel Syndrome 7	Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Lumbar scoliosis, Clinodactyly of ...	OMIM:614851
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In...	OMIM:615559
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Malabsorption, Abdomi...	ORPHA:131
Joubert Syndrome 18	Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphoscoliosis, Re...	OMIM:614815
Shigellosis	Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Conjunctivitis, Vomi...	ORPHA:810
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r...	OMIM:173800
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the epiphysis of the femoral head, Coxa vara, Gastroesophageal reflux, Narrow grea...	ORPHA:93316
Spondylometaphyseal Dysplasia, X-Linked	Hyperextensibility of the finger joints, Hip contracture, Enlarged joints, Thoracolumbar scoliosi...	OMIM:313420
Osteogenesis Imperfecta, Type Ix	Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Wormian bone...	OMIM:259440
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Aplasia of the thymus, Pneumonia, Decreased proportion of naive T cells, Malabsorption...	ORPHA:83471
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Waddling gait, Hip contracture, Scapular winging, Broad-based gait, Hyperlordosis, Pectus excavat...	OMIM:615290
Hyperlysinuria With Hyperammonemia	Lethargy, Malabsorption	OMIM:238750
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Tapered finger, Pectus excavatum, Kyphosis, Pectus carinatum, Large hands, Scoliosis	ORPHA:276630
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Neu...	ORPHA:3260
Immunodeficiency 58	Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ...	OMIM:618131
Developmental And Epileptic Encephalopathy 92	Lethargy, Feeding difficulties	OMIM:617829
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Abdominal pain, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthrit...	OMIM:611762
Rhizomelic Chondrodysplasia Punctata, Type 1	Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Kyphoscoliosis, Flexion contr...	OMIM:215100
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Back pain, Abnormal thoracic spine morphology, Nausea and vomiting, Bra...	ORPHA:370348
Thoracomelic Dysplasia	Hyperlordosis, Short neck, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shape...	ORPHA:1803
Fibrochondrogenesis 2	Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ...	OMIM:614524
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Abdominal pain, High, narrow palate, Rectal prolapse, Adenomatous co...	ORPHA:79076
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Syndactyly, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous...	OMIM:600384
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp...	OMIM:228900
Arthrogryposis, Distal, Type 11	Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac...	OMIM:620019
Ollier Disease	Micromelia, Joint stiffness, Precocious puberty, Abnormal cartilage morphology, Osteolysis, Multi...	ORPHA:296
Allan-Herndon-Dudley Syndrome	Small for gestational age, Failure to thrive in infancy, Ataxia, Kyphoscoliosis, Pectus excavatum...	ORPHA:59
Bardet-Biedl Syndrome 14	Renal insufficiency, Obesity	OMIM:615991
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Metacarpophalangeal...	ORPHA:3250
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Waddling gait, Congenital hip dislocation, Limited elbow movement, Kyphoscoliosis,...	OMIM:300280
Erythrocyte Lactate Transporter Defect	Elevated circulating creatine kinase concentration	OMIM:245340
Smith-Mccort Dysplasia 1	Barrel-shaped chest, Short metacarpal, Hypoplastic scapulae, Iliac crest serration, Multicentric ...	OMIM:607326
Ovarian Fibrothecoma	Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Abdominal pain, Abdominal distention, Peri...	ORPHA:314478
Bardet-Biedl Syndrome 10	Renal insufficiency, Obesity, Renal cyst	OMIM:615987
Lipase Deficiency, Combined	Type II diabetes mellitus, Pancreatitis	OMIM:246650
Chondrocalcinosis 1	Osteoarthritis, Chondrocalcinosis	OMIM:600668
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont...	OMIM:259600
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs	ORPHA:66630
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Short neck, Cr...	ORPHA:3409
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal obstruction, Malabsorption, Abdominal pain, Diarrhea, Abnormal intestine morphology, V...	OMIM:226300
Caroli Syndrome	Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,...	ORPHA:480520
Grfoma	Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome...	ORPHA:97261
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Recurren...	OMIM:615122
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating...	OMIM:618213
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Broad-based gait, Lumbar hyperlordosis, Ataxia, Inability to walk, Kyphosis, Hip d...	OMIM:616756
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Impaired Ig class switch recombination, Lympha...	OMIM:605258
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto...	OMIM:620133
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune...	ORPHA:572
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Hypogonadotropic hypogon...	ORPHA:298
Aggressive Systemic Mastocytosis	Anorexia, Neutropenia, Maculopapular exanthema, Portal hypertension, Abdominal pain, Leukocytosis...	ORPHA:98850
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Chronic diarrhea, Decreased pr...	OMIM:619652
Larsen-Like Syndrome	Joint laxity, Joint dislocation, Kyphoscoliosis, Wide anterior fontanel, Cleft palate, Recurrent ...	OMIM:608545
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Delayed puberty, Neutropenia, Gout, Inflammation...	OMIM:232220
Ichthyosis--Cheek--Eyebrow Syndrome	Abnormal thorax morphology, High palate, Kyphoscoliosis	OMIM:146720
Developmental And Epileptic Encephalopathy 40	Lethargy, Feeding difficulties	OMIM:617065
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis	OMIM:300434
Craniodiaphyseal Dysplasia	Abnormal rib morphology, Diaphyseal thickening	ORPHA:1513
Alkaptonuria	Joint dislocation, Joint stiffness, Cartilage destruction, Osteoarthritis, Nephrolithiasis, Reduc...	ORPHA:56
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Poor appetite, Abnormal sacroiliac joint...	ORPHA:324964
Zollinger-Ellison Syndrome	Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison syndrome, Pituitary pro...	ORPHA:913
Agammaglobulinemia 3, Autosomal Recessive	Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent c...	OMIM:613501
Ppoma	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Nausea and vomitin...	ORPHA:97278
Deafness-Lymphedema-Leukemia Syndrome	Nausea and vomiting, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphad...	ORPHA:3226
Cyclic Vomiting Syndrome	Anorexia, Abdominal pain, Gastrointestinal dysmotility, Vomiting, Lethargy, Nausea	OMIM:500007
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Lymphadenitis, Abnormality...	ORPHA:2552
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Abdominal pain, Asplenia, Splenomegaly, Splenic infarction, Hypo...	ORPHA:251380
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Micromelia, Abnormal tibia morphology, Flexion contracture, Osteoa...	ORPHA:666
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia	OMIM:300299
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Ataxia-Telangiectasia	Lymphopenia, Sinusitis, Diabetes mellitus, Female hypogonadism, Non-Hodgkin lymphoma, Decreased c...	OMIM:208900
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular...	OMIM:271700
Roifman Syndrome	Biconvex vertebral bodies, Hypogonadotropic hypogonadism, Eczema, Eosinophilia, Recurrent pneumon...	ORPHA:353298
Systemic Capillary Leak Syndrome	Pericarditis, Abdominal pain, Myocarditis, Diarrhea, Leukocytosis, Multiple myeloma, Pancreatitis	ORPHA:188
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Alstrom Syndrome	Renal insufficiency, Chronic active hepatitis, Congestive heart failure, Recurrent pneumonia, Dil...	OMIM:203800
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Small for gestational age, Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Pectus excavatu...	OMIM:616817
Epidermolysis Bullosa Acquisita	Inflammation of the large intestine, Diabetes mellitus, Abdominal pain	ORPHA:46487
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste...	OMIM:122600
Joint Laxity, Short Stature, And Myopia	Cervical kyphosis, Kyphoscoliosis, Multiple joint dislocation, Pectus carinatum, Talipes equinova...	OMIM:617662
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Congenital hypothyroidism	ORPHA:88643
King-Denborough Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Bilateral cryptorchidism, Cryptorchidism, Thora...	OMIM:619542
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Bethlem Myopathy 2	Kyphosis, Scapular winging, Hip dislocation, Scoliosis	OMIM:616471
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ...	ORPHA:75564
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Porphyria Due To Ala Dehydratase Deficiency	Increased fecal coproporphyrin 3, Abdominal pain, Abdominal distention, Diarrhea, Depression, Con...	ORPHA:100924
Satoyoshi Syndrome	Abnormality of the knee, Tapered finger, Abnormality of the humerus, Hyperlordosis, Abnormality o...	ORPHA:3130
Autosomal Dominant Spondylocostal Dysostosis	Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m...	ORPHA:1797
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Mccune-Albright Syndrome	Gastroesophageal reflux, Benign gastrointestinal tract tumors, Hyperthyroidism, Precocious pubert...	ORPHA:562
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Abdominal pain, Intestinal perforation, Thrombocytopenia, Peritonitis, Rectal pr...	ORPHA:90038
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contr...	OMIM:271640
Late-Onset Junctional Epidermolysis Bullosa	Hyperhidrosis, Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Cuta...	ORPHA:79406
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s...	OMIM:300048
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ...	OMIM:608106
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Joint dislocation, Thoracic scoliosis, Equinus calcaneus, Knee dislocation, Shoulder ...	ORPHA:536532
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Waardenburg Syndrome	Abnormality of the gastrointestinal tract, Abnormal eyebrow morphology, Intestinal obstruction, H...	ORPHA:3440
Athyreosis	Macroglossia, Constipation, Abdominal distention, Feeding difficulties	ORPHA:95713
Gaba-Transaminase Deficiency	Lethargy, Feeding difficulties	OMIM:613163
Generalized Eruptive Histiocytosis	Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis	ORPHA:157991
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet...	ORPHA:2198
Becker Nevus Syndrome	Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Upper limb asymmet...	ORPHA:64755
Galloway-Mowat Syndrome 7	Hallux valgus, Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Kyphoscoliosis, Minimal ...	OMIM:618348
Anauxetic Dysplasia 1	Barrel-shaped chest, Hip contracture, Lumbar hyperlordosis, Rhizomelia, Short neck, Hypoplastic i...	OMIM:607095
Solitary Bone Cyst	Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Abnormal form of the verteb...	ORPHA:83468
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Joint laxity, Bowing of the long bones, Epiphyseal dysplasia, Kyphoscoliosis, Pectus ...	OMIM:615349
Emanuel Syndrome	Multiple joint contractures, Congenital hip dislocation, High palate, Gastroesophageal reflux, Mi...	ORPHA:96170
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ...	ORPHA:169154
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Oropharyngeal squamous cell carcinoma, T lymphocytopenia, Infectious encephaliti...	ORPHA:391487
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa...	OMIM:300106
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Diarrhea, Vomiting, Pancreatitis, Abdominal pain	OMIM:620137
Graft Versus Host Disease	Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ab...	ORPHA:39812
Combined Oxidative Phosphorylation Deficiency 52	Hepatic steatosis, Pancreatitis, Anorexia, Adrenal insufficiency	OMIM:619386
Acrorenal-Mandibular Syndrome	Hemivertebrae, High palate, Narrow chest, Hypoplasia of the ulna, Split hand, Split foot, Bicornu...	OMIM:200980
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Short neck, Flexion contr...	OMIM:143095
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ...	ORPHA:488627
19P13.3 Microduplication Syndrome	Unilateral cryptorchidism, Kyphoscoliosis, Precocious puberty, Long fingers, Osteoporosis, Hip di...	ORPHA:447980
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ...	ORPHA:93267
Familial Mediterranean Fever	Acute hepatic failure, Nausea and vomiting, Pericarditis, Intestinal obstruction, Skin rash, Mala...	ORPHA:342
Orofaciodigital Syndrome Xi	Kyphoscoliosis, Postaxial polydactyly, Hypoplasia of the odontoid process, Cleft palate, Gastroes...	OMIM:612913
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Iga Pemphigus	Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc...	ORPHA:555905
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Splenomegaly, Diar...	OMIM:618495
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent...	OMIM:150550
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Rhizomelia, Acne, Short neck, Abnormality of the humerus,...	ORPHA:3098
Wiskott-Aldrich Syndrome 2	Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec...	OMIM:614493
Ehlers-Danlos Syndrome, Classic Type, 1	Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Pectu...	OMIM:130000
Nail-Patella Syndrome	Back pain, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hy...	ORPHA:2614
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Abdominal pain, Recurrent pancreatitis, Type II diabetes melli...	OMIM:619290
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri...	OMIM:277320
Bruck Syndrome 1	Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow flexion contract...	OMIM:259450
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Diabetes mellitus, Abnormality of the thyroid gland, Squamo...	ORPHA:542592
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Aortic valve stenosis, Enuresis, Abnormality of the kidney	ORPHA:459061
Bardet-Biedl Syndrome 18	Renal insufficiency, Stage 5 chronic kidney disease, Obesity	OMIM:615995
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Small for gestational age, Talipes equinovarus, Congenital bilateral hip dislocation	ORPHA:85288
Ethylene Glycol Poisoning	Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ...	ORPHA:31826
Loeys-Dietz Syndrome 5	Osteoarthritis, Pectus carinatum, High palate, Bilateral coxa valga, Bifid uvula, Scapular wingin...	OMIM:615582
Pancreas, Annular	High intestinal obstruction, Duodenal stenosis	OMIM:167750
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocy...	OMIM:304790
Annular Pancreas	High intestinal obstruction, Duodenal stenosis	ORPHA:675
Junctional Epidermolysis Bullosa Inversa	Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Cutaneous melanoma,...	ORPHA:79405
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphad...	OMIM:617718
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Recur...	ORPHA:343
Basal Cell Nevus Syndrome 1	Palmar pits, Hemivertebrae, Abnormal sternum morphology, Vertebral fusion, Short ribs, Bifid ribs...	OMIM:109400
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Skin rash, Lymphopenia, Autoimmune he...	ORPHA:331206
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in...	OMIM:301000
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Ta...	OMIM:600175
Igg4-Related Kidney Disease	Renal interstitial immunoglobulin deposits, Lymphadenitis, Sterile pyuria, Tubulointerstitial nep...	ORPHA:449395
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo...	OMIM:609057
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp...	ORPHA:480536
Intellectual Developmental Disorder, X-Linked 19	Scoliosis, Small for gestational age, Kyphoscoliosis	OMIM:300844
Coccidioidomycosis	Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor...	ORPHA:228123
Dihydropyrimidinase Deficiency	Feeding difficulties in infancy, Lethargy, Anal atresia	OMIM:222748
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Tapered finger, Cryptorchidism, Short toe, Kyp...	OMIM:301900
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell...	OMIM:151210
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Rocker bottom foot, Short neck, Kyphosis, Camptodactyly	OMIM:618393
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect	OMIM:608681
Glucagonoma	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Nausea and vomitin...	ORPHA:97280
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Abdominal pain, Splenomegaly, Lymphaden...	OMIM:260920
Agammaglobulinemia 7, Autosomal Recessive	Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm...	OMIM:615214
Myotonia With Skeletal Abnormalities And Mental Retardation	Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Genu valgum, Bell-shaped thorax, ...	OMIM:255710
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Isolated Klippel-Feil Syndrome	Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab...	ORPHA:2345
Brachyolmia Type 3	Barrel-shaped chest, Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondy...	OMIM:113500
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Musculocontractural Ehlers-Danlos Syndrome	Cervical kyphosis, Decreased palmar creases, Generalized joint laxity, Functional abnormality of ...	ORPHA:2953
Anauxetic Dysplasia 2	Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb...	OMIM:617396
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Thoracolumbar kyphosis, Kyphoscoliosis, Joint laxity	OMIM:236660
Femoral-Facial Syndrome	Short femur, Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Coxa vara, Abnormal...	ORPHA:1988
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocy...	OMIM:301078
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy	OMIM:618573
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocation, Short lon...	OMIM:620269
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Submucous cleft hard palate, Periarticular soft-tissue mass, Synovitis, Hype...	OMIM:601492
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Cholestasis, Abnormal...	ORPHA:79303
Colorectal Cancer, Susceptibility To, 12	Colorectal polyposis, Carcinoma	OMIM:615083
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:91500
Classic Galactosemia	Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism...	ORPHA:79239
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Arachnodactyly, Hypospadias, Joint stiffness, Kyphosis, Pectus carinatum, Scoliosis, Abnormal tes...	ORPHA:1548
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Abnormal limb bone morphology, Limitation of joint mobility,...	ORPHA:85435
Somatostatinoma	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Nausea and vomitin...	ORPHA:97283
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Inability to walk, Joint contracture, Kyphoscoliosis	OMIM:617977
Mucolipidosis Iii Gamma	Abnormality of the hand, Hyperlordosis, Short neck, Kyphosis, Flat capital femoral epiphysis, Pec...	OMIM:252605
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Single transverse palmar crease, Kyphosis, Decreased circulating total IgM, Scoliosis, Decreased ...	OMIM:300861
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Short neck, Abnormal rib morphology, Obesi...	ORPHA:2234
Charcot-Marie-Tooth Disease, Type 4B2	Kyphoscoliosis, Split hand, Hammertoe, Steppage gait, Talipes equinovarus, Difficulty walking, Ul...	OMIM:604563
Paget Disease Of Bone 6	Nephrocalcinosis, Osteoarthritis, Recurrent fractures	OMIM:616833
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Increased inflammatory response, Pericarditis, Lumbar hyperlordosis, Camptodactyly of finger, Wri...	ORPHA:2848
Thyroid Hemiagenesis	Macroglossia, Constipation, Abdominal distention	ORPHA:95719
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, T...	ORPHA:163966
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Cryptorchidism, Kyphosis, Limited elbow extension, Short metatarsal...	OMIM:180870
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, El...	ORPHA:542323
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Diabetes mellitus, Splenomegaly, Polycystic ovaries, Hepatic steatosis, Pancreatitis	ORPHA:2348
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Increased circulating IgG4 level, Eosinophilia, Keratitis, Orchitis, Retr...	ORPHA:449563
Xanthinuria, Type Ii	Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin...	OMIM:603592
Coffin-Siris Syndrome 6	Kyphoscoliosis, Pectus excavatum, High, narrow palate, Cleft palate, Gastroesophageal reflux, Wor...	OMIM:617808
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Proteinuria, Glomerulonephritis, Prolonged QRS complex, Myoca...	ORPHA:90068
Immunodeficiency 9	Stomatitis, Chronic diarrhea, Hypoplasia of the thymus, Recurrent aphthous stomatitis	OMIM:612782
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Single transverse palmar crease, Short neck, Cryptorchidism, Inability to wal...	OMIM:611890
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o...	OMIM:606895
Ovarian Fibroma	Odontogenic keratocysts of the jaw, Ovarian fibroma, Abdominal pain, Abdominal distention, Perito...	ORPHA:314473
Spinocerebellar Ataxia, Autosomal Recessive 20	Ataxia, Kyphoscoliosis, Inability to walk, Oligosacchariduria, Macroglossia, High palate, Talipes...	OMIM:616354
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Hyperparathyroidism, Hurthle cell thyroid adenoma, Papillary renal cel...	OMIM:145001
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin-resistant diabetes mell...	ORPHA:79083
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Abnormal thorax morphology, Hemive...	OMIM:302960
Whim Syndrome 1	Bronchiectasis, Decreased circulating antibody level, Neutropenia, Decreased circulating IgG leve...	OMIM:193670
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosis, Postaxial hand pol...	ORPHA:3082
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Small for gestational age, Camptodactyly of finger, Rocker bottom foot, Kyphoscoli...	OMIM:610756
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym...	OMIM:613011
Leukodystrophy, Hypomyelinating, 17	Inability to walk, Flexion contracture, Kyphoscoliosis	OMIM:618006
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Schistocytosis, Elevated circulating cre...	OMIM:274150
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Multiple joint contractures, Single transverse palmar crease, Meta...	ORPHA:536471
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn...	ORPHA:3243
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Liver abscess, Lung abscess, Abdominal pain, Gastrointestinal dysmotility...	ORPHA:67
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c...	OMIM:300863
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Abdominal pain, Diarrhea, Chronic diarr...	OMIM:617099
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Nodular goiter, Arthropathy, Premature thelarche, Abnormal hand morphology, Sclerotic...	ORPHA:371428
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I...	OMIM:602522
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Scapular winging, Osteoarthritis, Bronchiectasis, Small thenar eminence, Joint hypermobility	OMIM:620080
Sandhoff Disease	Splenomegaly, Kyphosis, Hepatomegaly	ORPHA:796
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma	ORPHA:66661
Secondary Intestinal Lymphangiectasia	Intestinal obstruction, Abdominal colic, Intestinal lymphedema, B-cell lymphoma, Increased stool ...	ORPHA:90363
Common Variable Immunodeficiency	Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Gastrointestinal stroma tumor, Splenome...	ORPHA:1572
Central Diabetes Insipidus	Nausea and vomiting, Anorexia, Diarrhea, Depression, Lethargy	ORPHA:178029
Hereditary Central Diabetes Insipidus	Lethargy, Diarrhea, Vomiting	ORPHA:30925
Charcot-Marie-Tooth Disease Type 4D	Kyphoscoliosis, Inability to walk, Split hand, Unsteady gait, Upper limb amyotrophy, Hammertoe, D...	ORPHA:99950
Foxg1 Syndrome	Kyphoscoliosis, Inability to walk, Choreoathetosis, Gastroesophageal reflux, Scoliosis, Difficult...	ORPHA:561854
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Decreased ...	OMIM:271510
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Inflammatory Bowel Disease 25, Autosomal Recessive	Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ...	OMIM:612567
Central Core Disease	Joint laxity, Congenital hip dislocation, Multiple joint contractures, Kyphoscoliosis, Talipes eq...	ORPHA:597
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Joint laxity, Broad-based gait, Small for gestational age, Down-sloping shoulders, Kyphoscoliosis...	ORPHA:391408
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly...	ORPHA:158057
X-Linked Dominant Chondrodysplasia Punctata	Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Kyphoscoliosis, Flexion contractur...	ORPHA:35173
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Congenital Muscular Dystrophy Without Intellectual Disability	Achilles tendon contracture, Tip-toe gait, Kyphoscoliosis, Difficulty walking	ORPHA:370980
Familial Colorectal Cancer Type X	Neoplasm of the breast, Stomach cancer, Renal neoplasm, Pancreatic adenocarcinoma, Abdominal pain...	ORPHA:440437
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Flattened metatarsal heads, Arthropathy, Generalized morning stiffness, Coxa vara, Arthritis, Con...	OMIM:208250
Lethal Infantile Mitochondrial Myopathy	Lethargy, Fatal liver failure in infancy	ORPHA:254857
Glut1 Deficiency Syndrome 1	Lethargy, Paroxysmal lethargy	OMIM:606777
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Pectus carinatum, Knee flexion contracture, Clinodactyly of the 5th finger, Bilateral single tran...	ORPHA:488642
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Sepsis In Premature Infants	Hepatomegaly, Splenomegaly, Gastrointestinal dysmotility, Diarrhea, Jaundice, Enterocolitis, Func...	ORPHA:90051
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy	ORPHA:103910
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Ataxia, Eczema, Kyphosis, Pectus carinatum, Hip dysplasia, Failure to thrive	OMIM:620007
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Hypos...	ORPHA:2311
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul...	OMIM:619846
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Delayed epiphyseal ossification, P...	OMIM:114290
Zimmermann-Laband Syndrome 3	Kyphosis, Aplasia of the distal phalanx of the 5th toe, Absent distal phalanx of the 2nd toe, Abs...	OMIM:618658
Immunodeficiency 46	Chronic oral candidiasis, Chronic diarrhea, Neutropenia, Decreased circulating antibody level, Co...	OMIM:616740
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Congenital hip dislocation, Delayed closure of the anter...	OMIM:619797
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Neuropathy, Hereditary Sensory And Autonomic, Type V	Arthropathy, Low back pain, Osteomyelitis, Recurrent fractures, Urinary incontinence, Osteoarthri...	OMIM:608654
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Chondrodysplasia, Blomstrand Type	Micromelia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal bones, Advanc...	OMIM:215045
Self-Improving Dystrophic Epidermolysis Bullosa	Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Cutaneous melanoma,...	ORPHA:79411
Acrootoocular Syndrome	Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal finger flexion crease, Decrease...	ORPHA:2980
Hereditary Chronic Pancreatitis	Diabetes mellitus, Abdominal pain, Jaundice, Leukocytosis, Recurrent pancreatitis, Pancreatic cal...	ORPHA:676
Wolman Disease	Nausea and vomiting, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea, Hepatic f...	ORPHA:75233
Chromosome 2P16.1-P15 Deletion Syndrome	Arachnodactyly, Kyphoscoliosis, Pectus excavatum, Metatarsus adductus, Cryptorchidism, Calcaneova...	OMIM:612513
Brown-Vialetto-Van Laere Syndrome 2	Ataxia, Kyphoscoliosis, Split hand, Organic aciduria, Scoliosis, Dysphagia	OMIM:614707
Gonadoblastoma	Abdominal pain, Abdominal distention, Dysgerminoma, Ovarian gonadoblastoma, Hirsutism	ORPHA:206484
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ...	ORPHA:2616
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233710
Short Chain Acyl-Coa Dehydrogenase Deficiency	Lethargy, Feeding difficulties	ORPHA:26792
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
13Q12.3 Microdeletion Syndrome	Kyphoscoliosis, Cryptorchidism, Obesity, Atopic dermatitis, Hip dysplasia, Camptodactyly, Chronic...	ORPHA:412035
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Arachnodactyly, Kyphoscoliosis, Pectus excavatum, Methioninuria, Limitation of joint mobility, Os...	OMIM:236200
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Genu recurvatum, Tapered finger, Kyphosis, Obesit...	OMIM:300602
Pontocerebellar Hypoplasia, Type 6	Narrow palate, Feeding difficulties, Gastroesophageal reflux, Lethargy, Poor suck	OMIM:611523
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Osteopenia, Kyphoscoliosis, Joint hypermobility	ORPHA:300179
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Abnormal rib...	ORPHA:2522
Morgagni-Stewart-Morel Syndrome	Acne, Osteoarthritis, Osteoporosis, Obesity, Hyperostosis frontalis interna	ORPHA:77296
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, High pala...	ORPHA:443811
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, High, narro...	OMIM:309583
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Hemochromatosis, Type 2A	Hypogonadotropic hypogonadism, Azoospermia, Infertility, Lethargy, Amenorrhea	OMIM:602390
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin...	OMIM:610017
Hemochromatosis, Type 4	Osteoarthritis, Impotence	OMIM:606069
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Kyphoscoliosis, Split hand, Hammertoe, Steppage gait, Ulnar claw	OMIM:118220
Proteus Syndrome	Kyphoscoliosis, Mandibular hyperostosis, Spinal canal stenosis, Calvarial hyperostosis, Facial hy...	OMIM:176920
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilic infiltration of the esophagus, Eosinophilia, Recurrent pneumonia, Increased ...	OMIM:243700
Low Phospholipid-Associated Cholelithiasis	Abdominal colic, Liver abscess, Diabetes mellitus, Cholangitis, Intrahepatic cholestasis, Biliary...	ORPHA:69663
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Proteinuria, Kyphosis, Osteoarthritis, Osteolysis, He...	ORPHA:77259
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Upper limb amyotrophy, Kyphosis, Talipes equinovarus, Scoliosis	OMIM:617087
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu...	ORPHA:91547
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Skin...	ORPHA:47
Porphyria, Acute Intermittent	Abdominal pain, Diarrhea, Depression, Paralytic ileus, Vomiting, Constipation, Hepatocellular car...	OMIM:176000
Mucopolysaccharidosis, Type Iva	Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante...	OMIM:253000
Three M Syndrome 2	Scapular winging, Lumbar hyperlordosis, Hyperlordosis, Short neck, Short thorax, Pectus carinatum...	OMIM:612921
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep...	ORPHA:699
Kimura Disease	Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ...	ORPHA:482
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar...	ORPHA:2639
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Missing ribs, Short neck, Anorectal anomaly, Abnormal rib morphology, Ab...	ORPHA:1834
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hemolytic anemia, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit...	OMIM:614034
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Abdominal distentio...	ORPHA:436252
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Long toe, Osteopenia, Arachnodactyly, Kyphoscoliosis, Palmoplantar cutis gyrata, Cryptorchidism, ...	ORPHA:75496
Charcot-Marie-Tooth Disease Type 1A	Gait disturbance, Gait imbalance, Kyphoscoliosis	ORPHA:101081
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Proteinuria, Abnormality of body weight, Pneumonia, Increased circulating IgA l...	ORPHA:2298
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, ...	OMIM:619707
Warburg Micro Syndrome 3	Small scrotum, Kyphoscoliosis, Inability to walk, Hypoplastic labia minora, Flexion contracture, ...	OMIM:614222
Gastritis, Familial Giant Hypertrophic	Giant hypertrophic gastritis	OMIM:137280
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology	ORPHA:1506
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Abnorma...	ORPHA:1275
Dubowitz Syndrome	Sparse scalp hair, Anal stenosis, Malabsorption, Cryptorchidism, Rectal prolapse, Submucous cleft...	ORPHA:235
Lead Poisoning	Skin rash, Chronic kidney disease, Renal tubular dysfunction, Tubulointerstitial nephritis, Hyper...	ORPHA:330015
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Skin rash, Neutrophilia, Abdominal pain,...	ORPHA:829
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod...	ORPHA:100024
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
49,Xyyyy Syndrome	Abnormality of the epiphyses of the elbow, Large carpal bones, Finger clinodactyly, Radioulnar sy...	ORPHA:99330
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233690
Polyembryoma	Neoplasm of head and neck, Abdominal pain, Abdominal distention, Irregular menstruation, Gonadal ...	ORPHA:180229
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Thrombocytope...	ORPHA:507
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Short neck, Limited knee flex...	OMIM:615065
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Desbuquois Dysplasia 2	Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carinatum, Knee disloca...	OMIM:615777
Lynch Syndrome	Intestinal polyposis, Pancreatic adenocarcinoma, Abdominal pain, Depression, Neoplasm of the rect...	ORPHA:144
Mucopolysaccharidosis Type 4	Joint dislocation, Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Sho...	ORPHA:582
Silver-Russell Syndrome	Abnormality of male external genitalia, Sandal gap, Hypospadias, Cachexia, Failure to thrive in i...	ORPHA:813
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Metaphyseal widening, Multiple joint dislocation, Anteri...	ORPHA:536467
Hyperlipoproteinemia, Type I	Nausea, Splenomegaly, Jaundice, Hepatosplenomegaly, Episodic abdominal pain, Vomiting, Pancreatitis	OMIM:238600
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Necrotizing enterocolitis, Abdominal pain, Short neck, Feeding difficulties, High palate, Vomiting	OMIM:616809
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Renal cyst, High palate, Dislocated radial head, Joint laxity, Hypospadia...	OMIM:102500
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Recurrent fractures, Kyphoscoliosis, Protrusio acetabuli, Coxa vara, In...	OMIM:610968
Congenital Contractural Arachnodactyly	Congenital kyphoscoliosis, Arachnodactyly, Camptodactyly of finger, Intestinal malrotation, Joint...	ORPHA:115
Roussy-Levy Hereditary Areflexic Dystasia	Hammertoe, Kyphoscoliosis, Gait ataxia	OMIM:180800
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of fi...	ORPHA:284984
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Recurrent skin infections, Recurrent pneumonia, Increased circulating IgE level, Ato...	OMIM:619752
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ...	OMIM:235400
Cinca Syndrome	Skin rash, Eosinophilia, Leukocytosis, Uveitis, Lymphadenopathy, Hepatosplenomegaly, Arthritis, A...	OMIM:607115
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ...	OMIM:617021
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl...	ORPHA:2260
Sandifer Syndrome	Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Abnormal ...	ORPHA:71272
Grant Syndrome	Joint dislocation, Bowing of the long bones, Abnormal rib morphology, Abnormal pelvic girdle bone...	ORPHA:2097
Marburg Hemorrhagic Fever	Back pain, Anorexia, Odynophagia, Uveitis, Bloody diarrhea, Leukopenia, Vomiting, Abnormal lympho...	ORPHA:99826
Cardiac-Valvular Ehlers-Danlos Syndrome	Hallux valgus, Joint dislocation, Sandal gap, Recurrent shoulder dislocation, Thoracolumbar scoli...	ORPHA:230851
Spondyloenchondrodysplasia With Immune Dysregulation	Barrel-shaped chest, Metaphyseal dysplasia, Lumbar hyperlordosis, Pneumonia, Kyphoscoliosis, Shor...	OMIM:607944
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Abnormality of the cervical spine	OMIM:307500
Omenn Syndrome	Hepatomegaly, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Chronic diarrhea, Lymphoma, Th...	ORPHA:39041
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Ataxia, Kyphoscoliosis	OMIM:619099
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia, Anemia	OMIM:620366
Sponastrime Dysplasia	Metaphyseal widening, Osteopathia striata, Delayed epiphyseal ossification, Generalized joint lax...	ORPHA:93357
Rahman Syndrome	Cryptorchidism, Talipes equinovarus, Kyphoscoliosis, Camptodactyly	OMIM:617537
Glycoprotein Storage Disease	Gout	OMIM:232900
Immunodeficiency 89 And Autoimmunity	Increased circulating IgA level, Increased circulating IgE level, Bronchiectasis, Hypochromic mic...	OMIM:619632
Syndromic X-Linked Intellectual Disability 7	Hypoplasia of penis, Obesity, Micropenis	ORPHA:85274
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe, Limited elbo...	OMIM:614078
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Poor appetite, Myelodysplasia, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomit...	ORPHA:927
Schaaf-Yang Syndrome	Failure to thrive in infancy, Rocker bottom foot, Tapered finger, Cryptorchidism, Inability to wa...	OMIM:615547
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Single transverse palmar crease, Short neck, Cryptorchidism, Kyphosis, Flexion contracture, Bell-...	ORPHA:178148
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Villous atrophy, T lymphocytopenia, Hypothyroidism, Hemolytic anemia, Psoriasiform dermatitis, De...	OMIM:606367
Crisponi/Cold-Induced Sweating Syndrome 1	Short palm, Kyphoscoliosis, Tapered finger, Short neck, Keratitis, Elbow flexion contracture, Hig...	OMIM:272430
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Gastrointestin...	ORPHA:727
Alpha-Mannosidosis	Craniofacial hyperostosis, Bowing of the long bones, Short neck, Kyphosis, Narrow palate, Arthrit...	ORPHA:61
Thyroid Dyshormonogenesis 1	Macroglossia, Constipation, Lethargy	OMIM:274400
Steel Syndrome	Carpal synostosis, Lumbar hyperlordosis, Hip dislocation, Coxa vara, Scoliosis, Clinodactyly of t...	OMIM:615155
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c...	OMIM:613095
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy	OMIM:613710
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Pectus excavatum, Triphalangeal th...	ORPHA:957
Müllerian Aplasia And Hyperandrogenism	Acne, Short neck, Obesity, Cleft palate, Primary amenorrhea, Shield chest, Hypoplasia of the uter...	ORPHA:247768
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Short palm, Hy...	OMIM:611717
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Prominent metopic ridge, Kyphosis, Decreased circulating antibody level, Scoliosis, Bilateral sin...	ORPHA:85317
Lysinuric Protein Intolerance	Hepatomegaly, Nausea, Protein avoidance, Splenomegaly, Diarrhea, Malnutrition, Thrombocytopenia, ...	OMIM:222700
Dihydrolipoamide Dehydrogenase Deficiency	Lethargy, Decreased liver function, Feeding difficulties	OMIM:246900
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate...	OMIM:228520
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di...	OMIM:155310
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy	OMIM:618683
Arthrogryposis, Distal, Type 4	Osteopenia, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Kyphosis, Hypoplast...	OMIM:609128
Intellectual Developmental Disorder, X-Linked 111	Unsteady gait, Kyphoscoliosis	OMIM:301107
Colonic Atresia	Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis	ORPHA:1198
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Diarrhea, Hypereosinophilia, Neutropenia...	OMIM:615387
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu...	OMIM:243910
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Liver abscess, Neutrophilia, Abdominal pain, Abnormality of the pancreas, Diarrhea...	ORPHA:54251
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,...	OMIM:112350
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Short neck, Microcytic anemia, Recurrent pneumonia, Decreased circulating antibody level, Lymphad...	OMIM:619750
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Steppage gait, Kyphoscoliosis	OMIM:605588
Achondroplasia	Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Bowing of the legs, Hip joint hypermobility, Kyp...	ORPHA:15
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Ankyloglossia	OMIM:602361
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Trichohepatoenteric Syndrome 2	Hepatomegaly, Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepatitis, Co...	OMIM:614602
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Abdominal distention	OMIM:174050
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Cryptorchidism, Kyphosi...	ORPHA:3121
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Hypogonadotropic hypogonadism, Camptodactyly of finger, Kyphosis, Osteoporosis, Dysmetria...	ORPHA:48431
Hypertrophic Neuropathy Of Dejerine-Sottas	Broad-based gait, Kyphoscoliosis, Split hand, Hammertoe, Steppage gait, Scoliosis, Ulnar claw	OMIM:145900
Aicardi-Goutieres Syndrome 9	Hepatic steatosis, Acute pancreatitis, Pericarditis, Hepatomegaly, Chilblains, Portal hypertensio...	OMIM:619487
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
Igg4-Related Aortitis	Intestinal obstruction, Abdominal pain	ORPHA:449400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatic steatosis, Hepatomegaly, Chronic neutropenia, Diarrhea, Delayed puberty, Enterocolitis, U...	ORPHA:79259
Masa Syndrome	Kyphosis, Adducted thumb, Talipes equinovarus, Hyperlordosis	OMIM:303350
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Kyphoscoliosis, Split hand, Hammertoe, Steppage gait, Ulnar claw	OMIM:118200
Combined Oxidative Phosphorylation Deficiency 34	Failure to thrive, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Myelodysplasia, Abdomina...	ORPHA:98849
Celiac Disease, Susceptibility To, 1	Alopecia, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Lymphoma, Depression, V...	OMIM:212750
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci	OMIM:233670
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Abdominal pain, Orchitis, Splenomegaly, Peritonitis, Di...	OMIM:249100
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocyto...	OMIM:259720
Arthrogryposis, Distal, Type 2B1	Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger, Metatarsus adductus, C...	OMIM:601680
Mohr-Tranebjaerg Syndrome	Abnormal posturing, Dysphagia	OMIM:304700
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long fingers, Aplasia ...	OMIM:610797
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Cryptorchidism, Feeding difficulties, Gastroesophageal reflux, Lethargy, Abnormal posturing	OMIM:614857
Cystic Fibrosis	Male infertility, Meconium ileus, Diarrhea, Rectal prolapse, Ileus, Steatorrhea, Exocrine pancrea...	OMIM:219700
Autism Spectrum Disorder Due To Auts2 Deficiency	Small for gestational age, Eczema, Decreased palmar creases, Cryptorchidism, Kyphosis, Narrow pal...	ORPHA:352490
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Malabsorption, Arthritis,...	ORPHA:229717
Spondyloarthropathy, Susceptibility To, 1	Back pain, Anterior uveitis, Psoriasiform dermatitis, Kyphosis, Oligoarthritis, Enthesitis, Sacro...	OMIM:106300
N-Acetylglutamate Synthase Deficiency	Lethargy, Vomiting	OMIM:237310
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Brain abscess, Diabetes mellitus, Pneumonia, Nausea, Abdominal pain, Intestinal...	ORPHA:544482
Coenzyme Q10 Deficiency, Primary, 8	Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d...	OMIM:616733
Gitelman Syndrome	Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Renal Fanconi sy...	ORPHA:358
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia, Recurrent otitis media	OMIM:618948
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus	OMIM:608600
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t...	ORPHA:3258
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Glossoptosis, Barrel...	ORPHA:94068
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Head titubation, Lethargy, Feeding difficulties	OMIM:250620
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Spastic ataxia, Back pain, Kyphoscoliosis, Cervical spondylosis, Pseudobulbar paralysis, Gait dis...	ORPHA:199354
Linear Iga Dermatosis	Renal neoplasm, Inflammation of the large intestine, Bladder neoplasm	ORPHA:46488
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Ulnar deviation of the hand, Limb joint contracture, Hypogonadotropic hypogonadism, Kyphoscoliosi...	OMIM:612079
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Kyphoscoliosis, Talipes cavus equinovarus, Unsteady gait, Hammertoe, Gait di...	OMIM:601455
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Adrenal hyperplasia, High, narrow palate, Flexion contracture, Femoral bowing...	ORPHA:95699
Felty Syndrome	Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Thrombocytopenia, Recurrent pn...	ORPHA:47612
Mitochondrial Complex I Deficiency, Nuclear Type 5	Episodic vomiting, Vomiting, Lethargy, Dysphagia	OMIM:618226
Idiopathic Intracranial Hypertension	Lethargy, Vomiting, Nausea, Depression	ORPHA:238624
Achondrogenesis Type 1B	Micromelia, Short neck, Short thorax, Abnormal rib morphology, Short foot, Narrow chest, Talipes ...	ORPHA:93298
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Short toe, Kyphosis, Obesity, Seco...	ORPHA:3085
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	External genital hypoplasia, Single transverse palmar crease, Large for gestational age, Short ne...	ORPHA:96334
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib morphology, A...	ORPHA:2021
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Lethargy, Dysphagia	OMIM:613561
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Short neck, Spinal rigidity, Kyphosis, Flexion contracture, Elbow flexion contracture, ...	ORPHA:75840
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Lethargy, Constipation, Feeding difficulties	ORPHA:101150
Riboflavin Deficiency	Lethargy, Poor suck	OMIM:615026
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract...	OMIM:231070
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Ballooning hepatocyte degeneration, Hepatic fibrosis, Hepatocellular carcino...	OMIM:603471
Behçet Disease	Gastrointestinal hemorrhage, Increased inflammatory response, Myositis, Pericarditis, Acne, Nause...	ORPHA:117
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Melnick-Needles Syndrome	Bowing of the long bones, Delayed cranial suture closure, Coxa valga, Short thorax, Abnormal rib ...	ORPHA:2484
Marinesco-Sjogren Syndrome	Short metacarpal, Hypergonadotropic hypogonadism, Ataxia, Coxa valga, Kyphosis, Flexion contractu...	OMIM:248800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Hypoperis...	ORPHA:2241
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Kyphoscoliosis, Obesity, Shuffling gait, Macroorchidism	ORPHA:3077
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Cryptorchidism, Rectal prolapse, Narrow palate, Protein-losing enteropathy, Intestinal lymphangie...	OMIM:235510
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Malabsorption, Intestina...	ORPHA:537
Citrullinemia Type I	Feeding difficulties, Gastroesophageal reflux, Vomiting, Lethargy, Hepatic failure	ORPHA:247525
Marshall-Smith Syndrome	Thoracic scoliosis, Large sternal ossification centers, Bilateral cryptorchidism, Distal widening...	OMIM:602535
Liver Disease, Severe Congenital	Chronic gastritis, Biliary hyperplasia, Leukopenia, Vomiting, Protein-losing enteropathy, Lymphoc...	OMIM:619991
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Hunter-Macdonald Syndrome	Epiphyseal dysplasia, Hypospadias, Metatarsus adductus, Patent ductus arteriosus, Premature osteo...	OMIM:611962
Diarrhea 5, With Tufting Enteropathy, Congenital	Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Failure to thrive	OMIM:613217
Vertical Talus, Congenital	Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus	OMIM:192950
Boutonneuse Fever	Skin rash, Maculopapular exanthema, Abdominal pain, Cervical lymphadenopathy, Diarrhea, Lymphaden...	ORPHA:83313
Lethal Congenital Contracture Syndrome Type 1	Short neck, Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the vertebral bod...	ORPHA:1486
Stickler Syndrome	Joint dislocation, Osteoarthritis, Abnormal form of the vertebral bodies, Pectus carinatum, Reduc...	ORPHA:828
Vitamin B12-Responsive Methylmalonic Acidemia	Nausea and vomiting, Lethargy	ORPHA:28
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Pruritus, Flexion contracture, Limitation of jo...	ORPHA:231
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Single lineage myelodysplasia, Anemia of inadequate product...	ORPHA:98826
Combined Oxidative Phosphorylation Deficiency 2	Feeding difficulties in infancy, Lethargy	OMIM:610498
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Beaded ribs, Multiple prenatal fractures, Short neck, Flexion contracture, Micropenis...	OMIM:616897
Frank-Ter Haar Syndrome	Osteopenia, Anterior concavity of thoracic vertebrae, High palate, Short palm, Short phalanx of f...	OMIM:249420
De Barsy Syndrome	Osteopenia, Congenital hip dislocation, Kyphoscoliosis, Delayed closure of the anterior fontanell...	ORPHA:2962
Pachydermoperiostosis	Gastrointestinal hemorrhage, Osteomyelitis, Acne, Peptic ulcer, Elevated circulating growth hormo...	ORPHA:2796
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Iridocyclitis, Hypogonadism, Type II diabetes mellitus, Dysphagia, Type I diabetes mellitus, Dela...	ORPHA:412057
Glycine Encephalopathy 1	Lethargy	OMIM:605899
Banki Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo...	ORPHA:1228
Leopard Syndrome 1	Scapular winging, Hypospadias, Unilateral renal agenesis, Missing ribs, Pectus excavatum, Cryptor...	OMIM:151100
Distal Deletion 12Q	Single transverse palmar crease, Ectopic kidney, Short neck, High, narrow palate, Aplasia/Hypopla...	ORPHA:96149
Melnick-Needles Syndrome	Anterior concavity of thoracic vertebrae, Tibial bowing, Narrow chest, Ureteral stenosis, Cone-sh...	OMIM:309350
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scolio...	ORPHA:2180
Acromegaly	Dysmenorrhea, Osteoarthritis, Wide penis, Pituitary prolactin cell adenoma, Hypogonadotropic hypo...	ORPHA:963
Central Neurocytoma	Nausea and vomiting, Lethargy, Depression	ORPHA:73256
White Forelock With Malformations	Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi...	ORPHA:2475
Dystonia-Deafness Syndrome 1	Hypoplastic scapulae, Small for gestational age, Kyphoscoliosis, Femoral retroversion, Cleft pala...	OMIM:607371
Spondyloepimetaphyseal Dysplasia, Shohat Type	Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Genu varum, Fibula...	OMIM:602557
Hypoglossia With Situs Inversus	Asplenia, Feeding difficulties in infancy, Malnutrition, High palate, Polysplenia, Microglossia	OMIM:612776
Qazi-Markouizos Syndrome	High, narrow palate, Chronic constipation, Abdominal distention, Cryptorchidism	ORPHA:3010
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Toe syndactyly, Sandal gap, Down-sloping shoulders, Camptodactyly of finger,...	ORPHA:85293
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Hypospadias, Severe generalized osteoporosis, Kyphoscoliosis, Hypoplastic ischia...	OMIM:210730
Spinal Muscular Atrophy, Ryukyuan Type	Kyphoscoliosis	OMIM:271200
Idiopathic Congenital Hypothyroidism	Feeding difficulties in infancy, Macroglossia, Constipation, Lethargy	ORPHA:95717
Dihydropyrimidine Dehydrogenase Deficiency	Lethargy	OMIM:274270
Larsen Syndrome	Finger syndactyly, Brachydactyly, Large joint dislocations, Craniosynostosis, Accessory carpal bo...	ORPHA:503
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Short neck, Hemivertebrae, Pectus carinatum, High palate, Hypoplasi...	ORPHA:958
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Flexion contracture, Kyphoscoliosis	OMIM:607855
Leukoencephalopathy With Vanishing White Matter 1	Lethargy, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea	OMIM:603896
Monosomy 18Q	Arachnodactyly, Joint hypermobility, Kyphoscoliosis, Tapered finger, Pectus excavatum, Bilateral ...	ORPHA:1600
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Split hand, Talipes equinovarus, Kyphoscoliosis	OMIM:607831
Three M Syndrome 3	Hyperlordosis, Short neck, Increased vertebral height, Short thorax, Slender long bone, Hip dyspl...	OMIM:614205
Crimean-Congo Hemorrhagic Fever	Anorexia, Hyperhidrosis, Increased circulating IgG level, Leukopenia, Conjunctivitis, Cholecystit...	ORPHA:99827
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Abnormality of neutrophi...	ORPHA:36426
Loeys-Dietz Syndrome 6	Arachnodactyly, Knee osteoarthritis, High palate, Scoliosis, Hip osteoarthritis, Intervertebral d...	OMIM:619656
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy...	OMIM:613091
Sézary Syndrome	Hepatomegaly, Cutaneous T-cell lymphoma, Abnormal immunoglobulin level, Splenomegaly, Lymphoma, L...	ORPHA:3162
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Short neck, Metaphyseal widening, Advance...	OMIM:224400
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb undergrowth, Lumbar scoliosis...	ORPHA:319675
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Chronic mucocutaneous candid...	OMIM:269200
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Short neck, Bowing of the legs, Pectus carinatum, Abnormal calcification of the carpa...	OMIM:271665
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy	OMIM:617900
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy...	OMIM:150250
Mitochondrial Complex I Deficiency, Nuclear Type 4	Lethargy, Vomiting	OMIM:618225
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology	OMIM:602196
Congenital Atransferrinemia	Arthritis	ORPHA:1195
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi...	OMIM:304120
Cowden Syndrome 1	Hamartomatous polyposis, High palate, Hypothyroidism, Transitional cell carcinoma of the bladder,...	OMIM:158350
Fibrosis Of Extraocular Muscles, Congenital, 3C	Pectus excavatum, Kyphosis	OMIM:609384
Phaver Syndrome	Broad hallux phalanx, Camptodactyly of finger, Short thumb, Abnormal rib morphology, Abnormal for...	ORPHA:2876
Gallbladder Disease 1	Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic fibrosis, Cholecystitis, Bile du...	OMIM:600803
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Neuropathic spinal arthropathy, Broad-based gait, Ataxia, Kyphoscoliosis, Patent ductus arteriosu...	ORPHA:397709
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Lysinuric Protein Intolerance	Hepatomegaly, Glomerulonephritis, Decreased response to growth hormone stimulation test, Thromboc...	ORPHA:470
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed calcaneal ossification, ...	OMIM:183900
Congenital Vertical Talus	Rocker bottom foot, Equinus calcaneus, Lower extremity joint dislocation, Achilles tendon contrac...	ORPHA:178382
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Short neck, Bowing of the legs, ...	OMIM:200600
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Arachnodactyly, Kyphosis, High, narrow palate, Joint hyperflexibility, Shoulder dislocation, Gait...	ORPHA:2181
Autosomal Agammaglobulinemia	Osteomyelitis, Sinusitis, Skin rash, Recurrent skin infections, Malabsorption, Bronchiectasis, He...	ORPHA:33110
Ataxia-Oculomotor Apraxia Type 4	Abnormal toe morphology, Ataxia, Obesity, Kyphoscoliosis	ORPHA:459033
Bone Marrow Failure Syndrome 6	Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo...	OMIM:618849
Typhoid	Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Constipation, Lethargy	ORPHA:99745
Symphalangism, Proximal, 1A	Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy...	OMIM:185800
Alpha-Thalassemia-Myelodysplastic Syndrome	Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr...	ORPHA:231401
Acromesomelic Dysplasia 4	Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Lumb...	OMIM:619636
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra...	ORPHA:2911
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Abdominal distention, Hepatocellular carcinoma	ORPHA:369
Autosomal Recessive Spastic Paraplegia Type 23	Waddling gait, Kyphoscoliosis, Hip dislocation, Horseshoe kidney, Spastic gait	ORPHA:101003
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, External genital hypoplasia, Short neck, Generalized joint laxity, Tibial bowing, Hig...	ORPHA:251028
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa...	ORPHA:249
Castleman Disease	Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Abdominal...	ORPHA:160
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pect...	ORPHA:175
Parkinson-Dementia Syndrome	Kyphoscoliosis	OMIM:260540
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Pyloric stenosis, Splenomegaly, Jaundice, Hepatitis, Ly...	ORPHA:381
Intellectual Developmental Disorder, Autosomal Recessive 39	Hallux valgus, Kyphoscoliosis	OMIM:615541
Frontometaphyseal Dysplasia 1	Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist...	OMIM:305620
Esophagitis, Eosinophilic, 2	Vomiting, Eosinophilia, Esophagitis, Dysphagia	OMIM:613412
Esophagitis, Eosinophilic, 1	Vomiting, Eosinophilia, Esophagitis, Dysphagia	OMIM:610247
Meier-Gorlin Syndrome 1	Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Flexion contracture, Hemivertebrae, P...	OMIM:224690
Combined Oxidative Phosphorylation Deficiency 32	Kyphoscoliosis, Inability to walk, Horseshoe kidney, Choreoathetosis, Gastroesophageal reflux, Dy...	OMIM:617664
Wilson Disease	Back pain, Acute hepatitis, Abnormality of the hand, Abnormality of the menstrual cycle, Pruritus...	ORPHA:905
Somatomammotropinoma	Dysmenorrhea, Osteoarthritis, Pituitary prolactin cell adenoma, Hypogonadotropic hypogonadism, Ma...	ORPHA:314769
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Failure to thrive secondary to recurrent...	OMIM:601457
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Arthropathy, Long clavicles, Seborrheic dermatitis, Pectus excavatum, Patent ductus a...	OMIM:259100
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hepatomegaly, Abn...	OMIM:214500
Brucellosis	Knee osteoarthritis, Increased circulating IgG level, Infectious encephalitis, Epididymitis, Abno...	ORPHA:1304
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Short neck, Renal cyst, Tibial bowing, Anteriorly placed anus, High...	ORPHA:798
15Q24 Microdeletion Syndrome	Joint laxity, Hypospadias, Decreased response to growth hormone stimulation test, Proximal placem...	ORPHA:94065
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Flared metaphysis, Hypoplastic pubic bone, Platyspondyly, Small ep...	ORPHA:93346
Cirrhosis, Familial	Abdominal distention, Fulminant hepatitis, Esophageal varix, Lethargy	OMIM:215600
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Prominent floating ribs	OMIM:152800
Congenital Disorder Of Glycosylation, Type Ih	Abdominal distention, Diarrhea, Cryptorchidism, Protein-losing enteropathy, Vomiting, Decreased l...	OMIM:608104
Melorheostosis	Increased bone mineral density, Joint stiffness, Upper limb asymmetry, Arthritis, Hyperostosis, E...	ORPHA:2485
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy	OMIM:613002
Mismatch Repair Cancer Syndrome 3	Glioblastoma multiforme, Astrocytoma, Lymphoma, T-cell lymphoma, Neoplasm of the rectum, Colon ca...	OMIM:619097
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy...	OMIM:600002
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Kyphoscoliosis, Protruding tongue, Abnormal thumb morphology, Inability to walk, Contractures of ...	ORPHA:324410
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Wormian bones, Beaded ribs, Thin ribs, Bell-shaped thorax,...	OMIM:166210
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Enlargement of the ankles, Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:600081
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Feeding difficulties, Scoliosis, Dysphagia	OMIM:618323
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short neck, Short ...	ORPHA:2756
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Abnormality of T cell physiology, Generalized lymphadenopathy, Pancytopenia, Anorex...	OMIM:181000
Difference Of Sex Development-Intellectual Disability Syndrome	Hypoplasia of penis, Small scrotum, Short neck, Kyphosis, Short thorax, Genu valgum, Reduced bone...	ORPHA:2983
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Allergic rhinitis, Eosinophilia, Malabsorption, Abdomi...	ORPHA:2070
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg...	ORPHA:411696
Weaver Syndrome	Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i...	OMIM:277590
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Kyphoscoliosis	OMIM:117850
Synostoses, Tarsal, Carpal, And Digital	Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta...	OMIM:186400
Mucopolysaccharidosis, Type Ivb	Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Chondroitin s...	OMIM:253010
Robinow Syndrome, Autosomal Dominant 2	Brachydactyly, Sacral dimple, Cleft soft palate, Kyphoscoliosis, Cryptorchidism, Partial duplicat...	OMIM:616331
Melioidosis	Foot osteomyelitis, Unusual skin infection, Pneumonia, Osteoarthritis, Hepatitis, Acute infectiou...	ORPHA:31202
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, ...	OMIM:241530
Arthrogryposis Multiplex Congenita 5	11 pairs of ribs, Rocker bottom foot, Akinesia, Short neck, Kyphoscoliosis, Flexion contracture, ...	OMIM:618947
Juvenile Nephropathic Cystinosis	Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C...	ORPHA:411634
Sapho Syndrome	Osteomyelitis, Psoriasiform dermatitis, Recurrent fractures, Acne, Malabsorption, Pustule, Abnorm...	ORPHA:793
Cystic Fibrosis	Meconium ileus, Malabsorption, Rectal prolapse, Depression, Gastroesophageal reflux, Steatorrhea,...	ORPHA:586
Juvenile Arthritis	Thrombocytosis, Leukocytosis, Skin rash	OMIM:618795
Presynaptic Congenital Myasthenic Syndromes	Joint laxity, Waddling gait, Neuropathic spinal arthropathy, Congenital hip dislocation, Ataxia, ...	ORPHA:98914
Congenital Myasthenic Syndrome	Joint laxity, Waddling gait, Neuropathic spinal arthropathy, Congenital hip dislocation, Ataxia, ...	ORPHA:590
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnormal intrahepatic bile duct morph...	ORPHA:562639
Robinow Syndrome	Small scrotum, External genital hypoplasia, Hemivertebrae, Clitoral hypoplasia, Webbed penis, Mic...	ORPHA:97360
Familial Chylomicronemia Syndrome	Nausea and vomiting, Acute pancreatitis, Diabetes mellitus, Perianal abscess, Jaundice, Hepatospl...	ORPHA:444490
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ...	OMIM:619041
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	11 pairs of ribs, Hip contracture, Short neck, Metatarsus adductus, Calcaneovalgus deformity, Elb...	OMIM:616266
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia	ORPHA:3204
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, High palate, Scoliosis, Delayed puberty, Anemia	ORPHA:2598
Diarrhea 6	Chronic diarrhea, Crohn's disease, Abdominal pain	OMIM:614616
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Kyphoscoliosis, Patent ductus arteriosus, Hip dislocation, Nephrocalcinosis, High pal...	OMIM:618005
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:306400
Polycythemia Vera	Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo...	OMIM:263300
Hjv Or Hamp-Related Hemochromatosis	Lethargy, Impotence, Hypogonadism	ORPHA:79230
Mitochondrial Complex I Deficiency, Nuclear Type 6	Lethargy, Vomiting	OMIM:618228
Hypomelanosis Of Ito	Syndactyly, Kyphosis, Hand polydactyly, Radial deviation of finger, Scoliosis, Clinodactyly	OMIM:300337
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Premature ovarian insufficiency, Ataxia, Kyphosis, High, narrow palate, Unsteady gait, Split hand...	OMIM:618124
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist...	OMIM:270420
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Renpenning Syndrome	Hypospadias, Cachexia, Joint stiffness, Pectus excavatum, Abnormal thumb morphology, High, narrow...	ORPHA:3242
Thiamine-Responsive Megaloblastic Anemia Syndrome	Lethargy, Diarrhea, Anorexia	ORPHA:49827
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Arachnodactyly, Long palm, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of...	ORPHA:2759
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Obesity	OMIM:608320
Uremic Pruritus	Inflammatory abnormality of the skin, Renal hypophosphatemia, Recurrent skin infections, Hypercal...	ORPHA:94059
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t...	ORPHA:90650
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel...	ORPHA:435651
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Hyperphenylalaninemia, Bh4-Deficient, B	Lethargy, Dysphagia	OMIM:233910
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Splenomegaly, Vacuolated l...	ORPHA:565612
Cdkl5-Deficiency Disorder	Hallux valgus, Kyphosis, Broad proximal phalanges of the hand, Scoliosis	ORPHA:505652
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Malabsorption, Elbow dislocation, Abnormality of the menstrual cycle, Osteoart...	ORPHA:285
Ck Syndrome	Slender build, Hyperlordosis, Kyphosis, High palate, Scoliosis, Abnormal cortical bone morphology...	OMIM:300831
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Lateral clavicle hook, Hypopl...	OMIM:617895
Pelger-Huet Anomaly	Eczema, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil nuclei, Giant platel...	OMIM:169400
Good Syndrome	Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Diabetes mellitus, Mediastin...	ORPHA:169105
Gm1-Gangliosidosis, Type Iii	Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypo...	OMIM:230650
Coach Syndrome 2	Hyperechogenic kidneys, Elevated circulating creatinine concentration	OMIM:619111
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Neoplasm of head and neck, Breast carcinoma, Abnormal lymp...	ORPHA:97290
Greenberg Dysplasia	Micromelia, Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, T...	OMIM:215140
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Proteinuria, Acne, Cachexia, Microscopic hematuria...	ORPHA:77297
Cleidocranial Dysplasia	Sinusitis, High, narrow palate, Coxa vara, Glossoptosis, Narrow chest, Hypoplastic inferior ilia,...	ORPHA:1452
Primary Sjögren Syndrome	Renal insufficiency, Myositis, Chronic active hepatitis, Abnormality of the kidney, Glomeruloneph...	ORPHA:289390
Hepatic Veno-Occlusive Disease	Renal insufficiency, Increased body weight, Increased total bilirubin	ORPHA:890
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no...	OMIM:250220
Achondrogenesis Type 1A	Multiple rib fractures, Micromelia, Short neck, Short thorax, Short foot, Narrow chest, Short palm	ORPHA:93299
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Joint laxity, Sandal gap, Hypospadias, Cryptorchidism, Kyphosis, Small hand, Gait ataxia, Short f...	OMIM:300354
Distal Symphalangism	Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ...	ORPHA:3248
Recessive Dystrophic Epidermolysis Bullosa Inversa	Esophageal stricture, Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinom...	ORPHA:79409
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bowing, Tibial bo...	OMIM:264700
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, High pala...	OMIM:265000
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Ectopic kidney, Short neck, Abnormal rib morphology, Azoospermia, Vertebral segmentation defect, ...	ORPHA:2578
Autosomal Dominant Spastic Paraplegia Type 29	Abnormal rectum morphology, Hiatus hernia	ORPHA:101009
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Feeding difficulties in infancy, Abdominal distention, Macroglossia, Constipation, Protuberant ab...	ORPHA:226313
Multicentric Carpotarsal Osteolysis Syndrome	Ulnar deviation of the hand, Ankle swelling, Wrist swelling, Osteolysis involving tarsal bones, M...	OMIM:166300
Febrile Infection-Related Epilepsy Syndrome	Lethargy	ORPHA:163703
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Gastroesophageal reflux, Recurrent aspiration pneumonia, Psoriasiform dermatitis, Ata...	ORPHA:221139
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Hyperphosphaturia, Recurrent fractures, Kyphoscoliosis, Abnormal toe morphology, Prec...	OMIM:163200
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis	OMIM:300718
Tatton-Brown-Rahman Syndrome	Kyphoscoliosis, Cryptorchidism, Short toe, Patent ductus arteriosus, Obesity, Widely spaced toes,...	ORPHA:404443
Familial Pancreatic Carcinoma	Back pain, Intestinal pseudo-obstruction, Anorexia, Poor appetite, Peritoneal abscess, Pancreatic...	ORPHA:1333
Trisomy 13	Cryptorchidism, Postaxial hand polydactyly, Kyphosis, Abnormal rib morphology, Abnormality of the...	ORPHA:3378
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ...	ORPHA:100026
Digeorge Syndrome	Impaired T cell function, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology...	OMIM:188400
Chronic Myeloid Leukemia	Poor appetite, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative di...	ORPHA:521
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Cleft palate, Hypoplasia...	OMIM:214110
Pseudoleprechaunism Syndrome, Patterson Type	Abnormal limb epiphysis morphology, Abnormal odontoid process morphology, Kyphoscoliosis, Metaphy...	ORPHA:2976
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu...	OMIM:187600
Microvillus Inclusion Disease	Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea	ORPHA:2290
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Myelodysplasia, Leukocytosis, Bone marrow hypocellularity, Multiple linea...	ORPHA:98827
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Elbow dislocation, Symphalangism affecting the phalanges of ...	ORPHA:2741
Charcot-Marie-Tooth Disease, Type 4A	Ulnar claw, Hammertoe, Inability to walk by childhood/adolescence, Kyphoscoliosis	OMIM:214400
Acute Intermittent Porphyria	Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Depression, Pseudobul...	ORPHA:79276
Classic Glucose Transporter Type 1 Deficiency Syndrome	Lethargy	ORPHA:71277
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Sporadic Infantile Bilateral Striatal Necrosis	Titubation, Bradykinesia, Dysphagia, Abnormal posturing, Poor suck, Nasogastric tube feeding	ORPHA:225147
Classical Ehlers-Danlos Syndrome	Osteopenia, Phalangeal dislocation, Hiatus hernia, Osteoarthritis, Generalized joint laxity, Rect...	ORPHA:287
X-Linked Hypophosphatemia	Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,...	ORPHA:89936
Marden-Walker Syndrome	Arachnodactyly, Hypospadias, Short neck, Cryptorchidism, Kyphosis, High, narrow palate, Pyloric s...	OMIM:248700
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Hip dislocation, ...	OMIM:616507
Cooper-Jabs Syndrome	Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Abno...	ORPHA:1488
Sanjad-Sakati Syndrome	Cryptorchidism, Intestinal obstruction	ORPHA:2323
Inflammatory Pseudotumor Of The Liver	Abdominal pain, Abdominal distention, Neoplasm of the liver, Vomiting, Nausea	ORPHA:90003
Maple Syrup Urine Disease	Feeding difficulties in infancy, Vomiting, Pancreatitis	OMIM:248600
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Ovoid vertebral bodies, ...	ORPHA:85167
Adult Acute Respiratory Distress Syndrome	Pancreatitis, Diabetic ketoacidosis, Pneumonia	ORPHA:70578
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis, Conjunctivitis, Allergic rhinitis	ORPHA:26137
Pyruvate Dehydrogenase E3 Deficiency	Lethargy, Hepatic failure, Vomiting, Feeding difficulties	ORPHA:2394
Loeys-Dietz Syndrome 3	Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abnormal sternum morphology, High palate, ...	OMIM:613795
Thrombocytopenia-Absent Radius Syndrome	Clinodactyly of the 5th finger, Phocomelia, Genu varum, Finger syndactyly, Fused cervical vertebr...	ORPHA:3320
Multiple Endocrine Neoplasia Type 1	Anorexia, Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenom...	ORPHA:652
Cinca Syndrome	Nausea and vomiting, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Retrobulbar optic ne...	ORPHA:1451
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Craniosynostosis, Split hand, Abnormal rib morphology, Brachydactyly	ORPHA:2145
Floating-Harbor Syndrome	Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Clin...	OMIM:136140
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Splenomegaly, Chronic diarrhea, Feeding difficulties, Macroglossia, High palate, Re...	OMIM:618268
Arthrogryposis, Distal, Type 5	Arachnodactyly, Decreased palmar creases, Limited wrist extension, Pectus excavatum, Kyphosis, Ab...	OMIM:108145
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain	OMIM:191390
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Acute pancreatitis, Anorexia, Reye syndrome-like episodes, Jaundice, Diarrhea, Leuk...	ORPHA:20
Developmental And Epileptic Encephalopathy 41	Nephrocalcinosis, Inability to walk, Flexion contracture, Kyphoscoliosis	OMIM:617105
Mevalonic Aciduria	Normocytic hypoplastic anemia, Skin rash, Kyphoscoliosis, Fluctuating splenomegaly, Fluctuating h...	OMIM:610377
Symptomatic Form Of Hfe-Related Hemochromatosis	Arthropathy, Abnormal metacarpophalangeal joint morphology, Cholangiocarcinoma, Hypogonadotropic ...	ORPHA:465508
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Short metacarpal, Thoracolumbar kyphoscoliosis, Joint hypermobility,...	OMIM:618853
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Kyphoscoliosis	OMIM:300886
Hemophilia B	Gastrointestinal hemorrhage, Osteoarthritis, Joint hemorrhage	OMIM:306900
Frank-Ter Haar Syndrome	Genu recurvatum, Camptodactyly of finger, Acne, Joint stiffness, Kyphosis, Osteolysis, Scoliosis,...	ORPHA:137834
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Abnormal rib morphology, ...	ORPHA:3035
Diamond-Blackfan Anemia	Acute myeloid leukemia, Cleft soft palate, Pure red cell aplasia, Short neck, Myelodysplasia, Ery...	ORPHA:124
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Neuropathy, Congenital, With Arthrogryposis Multiplex	Calcaneovalgus deformity, Hyperlordosis	OMIM:162370
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Diffuse Alveolar Hemorrhage	Proteinuria, Leukocytosis, Elevated circulating creatinine concentration, Anemia, Hematuria, Thro...	ORPHA:90060
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Decreased circulating antibody level	OMIM:618042
Schwartz-Jampel Syndrome	Micromelia, Short neck, Coxa vara, Pectus carinatum, High palate, Wrist flexion contracture, Incr...	ORPHA:800
Thyrocerebrorenal Syndrome	Renal insufficiency, Nephritis	ORPHA:3327
Hypophosphatasia	Bowing of the long bones, Craniosynostosis, Abnormal rib morphology, Narrow chest, Abnormal metap...	ORPHA:436
Myofibrillar Myopathy 10	Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contract...	OMIM:619040
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspon...	OMIM:619698
Carney Triad	Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Gastrointestinal stro...	ORPHA:139411
Acitretin/Etretinate Embryopathy	High palate, Hypoplasia of the thymus, Median cleft palate	ORPHA:40366
Kagami-Ogata Syndrome	Long clavicles, Kyphoscoliosis, Coxa valga, Long fingers, Patent ductus arteriosus, Flexion contr...	OMIM:608149
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis, Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, L...	OMIM:619708
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Gastrointestinal hemorrhage, Joint dislocation, Arachnodactyly, Congeni...	OMIM:225400
Otopalatodigital Syndrome Type 2	Preaxial polydactyly, Glossoptosis, Narrow chest, Short palm, Abnormal vertebral segmentation and...	ORPHA:90652
Susac Syndrome	Nausea and vomiting, Lethargy, Apathy	ORPHA:838
Pudendal Neuralgia	Dyspareunia, Abdominal colic, Anal canal adenocarcinoma, Genital neoplasm, Neoplasm of the genito...	ORPHA:60039
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Joint laxity, Spastic ataxia, Thoracic scoliosis, Kyphoscoliosis, Metatarsus adductus, Inability ...	ORPHA:300570
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash,...	ORPHA:900
Cole-Carpenter Syndrome	Crumpled long bones, Bowing of the long bones, Kyphosis, Abnormal rib morphology, Abnormal form o...	ORPHA:2050
Floating-Harbor Syndrome	Enlarged joints, Short neck, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Gastroesophage...	ORPHA:2044
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Vaginal hernia, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemive...	ORPHA:2916
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ...	OMIM:228000
Thanatophoric Dysplasia	Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Short thorax, Patent...	ORPHA:2655
Multicentric Reticulohistiocytosis	Arthritis, Cachexia	ORPHA:139436
Acrocephalopolydactyly	Protuberant abdomen	ORPHA:221054
O'Donnell-Luria-Rodan Syndrome	Cryptorchidism, Kyphosis, Tapered finger	OMIM:618512
Cat-Eye Syndrome	Hip dysplasia, Abnormal rib morphology	ORPHA:195
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,...	OMIM:211350
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac...	OMIM:259420
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Barrel-shaped chest, Vertebral fusion, Hip contracture, Tarsal synostosis, Multiple pterygia, Sho...	OMIM:178110
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Long palm, Pectus excavatum, Kyphosis, Pectus carinatum, Narrow chest, Scoliosis	OMIM:300676
Charcot-Marie-Tooth Disease, Type 4K	Kyphoscoliosis, Ataxia, Difficulty walking	OMIM:616684
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Diabetes mellitus, Decreased adiponectin level, Decreased serum leptin, Splenomegal...	ORPHA:280365
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Hyperlordosis, Metatarsus adductus, Kyphosis, Small hand, Hip dysplasia, Scapul...	OMIM:181405
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Short neck, Tracheobronchomalacia, Narrow chest, Short phalanx of ...	ORPHA:56304
Monosomy 18P	Kyphoscoliosis, Short neck, Pectus excavatum, Cleft palate, Enlarged thorax, Brachydactyly	ORPHA:1598
X-Linked Intellectual Disability, Snyder Type	Long toe, Arachnodactyly, Hypospadias, Recurrent fractures, Ectopic kidney, Pectus excavatum, Cry...	ORPHA:3063
Macrophage Activation Syndrome	Increased inflammatory response, Hepatomegaly, Splenomegaly, Thrombocytopenia, Abnormal natural k...	ORPHA:158061
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Increased intervertebral space, Narrow greater sciatic notch, Decreased c...	ORPHA:508533
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Acute pancreatitis, Hyperlordosis, Reye syndrome-like episodes, Feeding difficultie...	ORPHA:26791
Intellectual Developmental Disorder, Autosomal Recessive 78	Kyphoscoliosis, Pectus excavatum, High palate, Narrow chest, Clinodactyly of the 5th finger, Cubi...	OMIM:620237
Zika Virus Disease	Maculopapular exanthema, Ankle swelling, Skin rash, Wrist swelling, Pruritus, Arthritis, Increase...	ORPHA:448237
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Kyphoscoliosis, Areflexia of upper limbs, Intrinsic hand muscle atrophy, Impaired tandem gait, Cl...	OMIM:619574
X-Linked Creatine Transporter Deficiency	Constipation, Ileus, Aganglionic megacolon	ORPHA:52503
Pyruvate Dehydrogenase Deficiency	Feeding difficulties in infancy, Multiple lipomas, High palate, Lethargy	ORPHA:765
Plague	Glossitis, Chapped lip, Hepatomegaly, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Sple...	ORPHA:707
Mucopolysaccharidosis, Type Iiic	Thickened ribs, Kyphoscoliosis, Joint stiffness, Heparan sulfate excretion in urine, Ovoid thorac...	OMIM:252930
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Neoplasm of head and neck, A...	ORPHA:319487
Xanthinuria, Type I	Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis	OMIM:278300
Immunodeficiency 31C	Villous atrophy, Protein-losing enteropathy, Recurrent vulvovaginal candidiasis, Hypothyroidism, ...	OMIM:614162
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Congenital kyphoscoliosis, Arachnodactyly, Congenital hip dislocation, Kyphoscoliosis...	ORPHA:536545
Leukodystrophy, Hypomyelinating, 3	Joint contracture, Failure to thrive, Kyphoscoliosis	OMIM:260600
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Small scrotum, Multiple pterygia, Symphalangism affecting the phalanges of t...	ORPHA:2990
Short Stature, Brussels Type	Delayed epiphyseal ossification, Narrow chest, Calcification of cartilage, Horseshoe kidney	ORPHA:2867
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Aspiration pneumonia	ORPHA:431361
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Ulnar deviation of the hand, Femur fracture, Multiple joint contractures, Congenit...	OMIM:618291
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Ar...	OMIM:617591
Nephronophthisis 15	Obesity, Nephronophthisis	OMIM:614845
Campomelic Dysplasia	Short neck, Tibial bowing, Femoral bowing, Narrow chest, Hypoplastic inferior ilia, Poorly ossifi...	ORPHA:140
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Short neck, Narrow palate, Macroglossia, High palate, Hypoplasia of the thymus	OMIM:617022
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem...	ORPHA:439232
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Rhizomelia, Smal...	OMIM:616229
Hall-Riggs Syndrome	Metaphyseal dysplasia, Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scol...	OMIM:234250
Dengue Fever	Gastrointestinal hemorrhage, Nausea and vomiting, Abdominal pain, Diarrhea, Lethargy	ORPHA:99828
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bilateral single transverse palmar creases, Proximal placement of thumb, Abnormal thumb morpholog...	ORPHA:1120
Osteogenesis Imperfecta, Type X	Osteopenia, Thoracic scoliosis, Micromelia, Generalized joint laxity, Tibial bowing, Narrow chest...	OMIM:613848
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Abdominal pain, Leukocytosi...	OMIM:615688
Porphyria Variegata	Abdominal pain, Ileus, Constipation, Hepatocellular carcinoma, Nausea, Hypertrichosis	ORPHA:79473
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Small for gestational age, Kyphoscoliosis, Short thumb, Cryptorchidis...	OMIM:268400
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Central hypothyroidis...	ORPHA:514
Noonan Syndrome 1	Male infertility, Pectus excavatum of inferior sternum, Hypospadias, Failure to thrive in infancy...	OMIM:163950
Chylomicron Retention Disease	Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption	ORPHA:71
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout	OMIM:610947
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Joint laxity, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Large for gestational age, Ky...	ORPHA:457359
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Cutaneous melanoma,...	ORPHA:79410
Autosomal Recessive Spastic Paraplegia Type 77	Neurogenic bladder, Detrusor sphincter dyssynergia, Urinary incontinence, Kyphoscoliosis, Bilater...	ORPHA:466722
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Radial deviation of the hand, Rocker bottom foot, Urinary incontinence, Short ne...	OMIM:301041
Yellow Fever	Low back pain, Acute pancreatitis, Neutrophilia, Skin rash, Abdominal pain, Hematemesis, Diarrhea...	ORPHA:99829
22Q11.2 Deletion Syndrome	Impaired T cell function, Short neck, Feeding difficulties in infancy, Anorectal anomaly, Hypopla...	ORPHA:567
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis, Pectus carinatum, Joint hyperflexibility, Upper limb hypertonia, Failure to thrive	ORPHA:319199
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abdominal pain, Ile...	ORPHA:163746
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Intestinal obstruction, Abdominal pain, Orchitis, S...	ORPHA:32960
Wilson Disease	Hypoparathyroidism, Hyperphosphaturia, Proteinuria, Osteomalacia, Hepatocellular carcinoma, Osteo...	OMIM:277900
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Hypoplasia of penis, Hypogonadotropic hypogonadism, Hyperlordosis, Lim...	ORPHA:3068
Intellectual Disability-Developmental Delay-Contractures Syndrome	Clinodactyly of the 5th finger, Kyphosis, Scoliosis	ORPHA:3454
Meckel Syndrome, Type 8	Abdominal distention, Cleft palate	OMIM:613885
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Recurrent fractures, Micromelia, Cryptorchidism, Abnormal rib morphology, Jo...	ORPHA:2772
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short fourth metatarsal, Short metacarpal, Overlapping toe, Thoracolumbar scoliosis, Craniosynost...	OMIM:616723
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Abdominal distention, Hypoperistalsis	OMIM:619365
Hyperparathyroidism-Jaw Tumor Syndrome	Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Renal hamartom...	ORPHA:99880
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Truncal obesity, Obesity, Large for gestational age	OMIM:240900
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Abnormal thorax morphology, Metaphyseal widening, Dysphagia, Abnormal form of the vertebral bodie...	ORPHA:73230
Viss Syndrome	Chronic gastritis, High, narrow palate, Increased circulating IgG level, High palate, Gastroesoph...	OMIM:619472
Leiomyoma Of Vulva And Esophagus	Esophageal obstruction	OMIM:150700
Glycogen Storage Disease Ic	Hepatomegaly, Hepatoblastoma, Cyclic neutropenia, Chronic pancreatitis, Gout, Inflammation of the...	OMIM:232240
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Neoplasm of the lung, Neoplasm...	ORPHA:100085
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Autosomal Dominant Spastic Paraplegia Type 36	Urinary urgency, Arthritis, Spastic gait, Urinary incontinence	ORPHA:320365
Robinow Syndrome, Autosomal Recessive 1	Short neck, Hemivertebrae, Nephrocalcinosis, Clitoral hypoplasia, Short palm, Thoracic hemiverteb...	OMIM:268310
Pycnodysostosis	Abnormal clavicle morphology, Persistent open anterior fontanelle, Decreased response to growth h...	ORPHA:763
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Lactose intolerance, Curly hair, Cryptorchidism, Protuberant abdomen, Hemangioma, Intestinal polyp	ORPHA:457485
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Protein avoidance, Lethargy, Episodic vomiting, Decreased liver function	OMIM:238970
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Leukocytosis, ...	ORPHA:293173
Citrullinemia Type Ii	Hepatomegaly, Diarrhea, Hepatic fibrosis, Vomiting, Hepatocellular carcinoma, Delayed menarche, H...	ORPHA:247585
X-Linked Charcot-Marie-Tooth Disease Type 1	Kyphosis, Distal upper limb amyotrophy, Scoliosis	ORPHA:101075
Hyperparathyroidism, Transient Neonatal	Osteopenia, Hyperparathyroidism, Short femur, Wide cranial sutures, Metaphyseal spurs, Unilateral...	OMIM:618188
Lopes-Maciel-Rodan Syndrome	Kyphosis, Unsteady gait, Small hand, Short foot, Ankle clonus, Scoliosis, Dysphagia	OMIM:617435
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Ullrich Congenital Muscular Dystrophy 1	Joint laxity, Spinal rigidity, Distal joint laxity, Kyphosis, Flexion contracture, Hip dislocatio...	OMIM:254090
Cutis Laxa, Autosomal Recessive, Type Ic	Pyloric stenosis, Rectal prolapse, Gastroesophageal reflux, Feeding difficulties	OMIM:613177
Hyperinsulinism Due To Ucp2 Deficiency	Lethargy, Feeding difficulties	ORPHA:276556
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Kyphoscoliosis, Coxa valga, Tapered finger, Cryptorchidism, Kyphosis, Protruding ton...	OMIM:301040
Craniodiaphyseal Dysplasia, Autosomal Dominant	Thickened ribs, Diaphyseal sclerosis	OMIM:122860
Pancreatitis, Hereditary	Diabetes mellitus, Abdominal pain, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, ...	OMIM:167800
46,Xy Sex Reversal 4	Renal dysplasia, Elevated circulating creatinine concentration, Cleft palate, High palate, Increa...	OMIM:154230
Dysostosis Multiplex, Ain-Naz Type	Abdominal distention	OMIM:619345
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Highly arched eyebrow, Cleft palate, Feeding difficulties, Anteriorly plac...	OMIM:239300
Parathyroid Carcinoma	Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Renal hamartom...	ORPHA:143
Dysosteosclerosis	Sclerotic scapulae, Delayed closure of the anterior fontanelle, Increased intervertebral space, A...	OMIM:224300
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Vertebral segmentation defect, Aplasia of the thymus, Duodenal atresia	ORPHA:3004
Mesomelia-Synostoses Syndrome	Abnormality of the knee, Brachydactyly, Micromelia, Abnormality of the hand, Abnormality of the h...	ORPHA:2496
Anterior Cutaneous Nerve Entrapment Syndrome	Anorexia, Abdominal pain, Abdominal distention, Recurrent infection of the gastrointestinal tract...	ORPHA:51890
Sydenham Chorea	Septic arthritis, Unsteady gait, Endocarditis	ORPHA:306731
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Scoliosis, Broad dista...	OMIM:615761
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Becker Nevus Syndrome	Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis	OMIM:604919
Tetrasomy 15Q26	Arachnodactyly, Kyphoscoliosis, Patent ductus arteriosus, Horseshoe kidney, High palate, Camptoda...	OMIM:614846
Typical Nemaline Myopathy	Waddling gait, Short neck, Pectus excavatum, Hyperlordosis, Kyphosis, Flexion contracture, Spinal...	ORPHA:171436
Hemochromatosis, Type 3	Arthritis, Impotence, Hypogonadotropic hypogonadism, Amenorrhea	OMIM:604250
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Medulloblastoma	Nausea and vomiting, Adenomatous colonic polyposis, Medulloblastoma, Spinal cord tumor, Neoplasm ...	ORPHA:616
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Waddling gait, Back pain, Scapular winging, Proximal muscle weakness in upper limbs, Joint stiffn...	ORPHA:98855
Holocarboxylase Synthetase Deficiency	Nausea and vomiting, Lethargy, Alopecia, Anorexia	ORPHA:79242
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasi...	OMIM:276820
Necrotizing Enterocolitis	Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting, Lethargy	ORPHA:391673
Huntington Disease-Like 1	Bradykinesia, Abnormal posturing, Depression	ORPHA:157941
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Multiple joint dislocation, Abnormal cartilage matrix, Joint dislocation	OMIM:245650
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Ectopic kidney, Abnormal rib morphology, Cleft palate, Hypoplasia of t...	OMIM:601076
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs...	OMIM:613686
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis	OMIM:617404
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Ataxia, Urinary incontinence, Kyphosis, Unsteady gait, Hip dislocation, Obesity, D...	ORPHA:464282
Immunodeficiency 85 And Autoimmunity	Villous atrophy, Failure to thrive in infancy, Eczema, Oligoarthritis, Decreased circulating tota...	OMIM:619510
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Malnutrition, Insulin-dependent but ketos...	ORPHA:103918
Immunodeficiency 96	Eczema, Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T...	OMIM:619774
Nephrotic Syndrome, Type 1	Pyloric stenosis, Gastroesophageal reflux, Abdominal distention	OMIM:256300
Emanuel Syndrome	Sacral dimple, Congenital hip dislocation, Intestinal malrotation, Unilateral renal agenesis, Cry...	OMIM:609029
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren...	ORPHA:36234
Mirizzi Syndrome	Abdominal colic, Nausea, Abdominal pain, Anorexia, Pancreatitis, Jaundice, Abdominal distention, ...	ORPHA:521219
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Flexion contracture of finger, Congenital hip dislocation, Ankle flexion contrac...	ORPHA:2020
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Iron deficiency anemia, Keratoconjunctivitis sicc...	ORPHA:309031
Folinic Acid-Responsive Seizures	Abdominal distention	ORPHA:79097
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ...	ORPHA:93324
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Proteinuria, Decreased response to growth hormone stimulation test, Pneumo...	ORPHA:1855
Episodic Ataxia Type 1	Kyphoscoliosis, Choreoathetosis, Tip-toe gait, Scoliosis, Hand clenching	ORPHA:37612
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node...	ORPHA:79124
Bent Bone Dysplasia Syndrome 2	Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Micropenis, Ulnar bo...	OMIM:620076
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, G...	ORPHA:583
Griscelli Syndrome Type 2	Nausea and vomiting, Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemopha...	ORPHA:79477
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Lethargy, Feeding difficulties	ORPHA:276575
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Lymphoproliferative disorder, Abdominal pain, Abnormal gastr...	ORPHA:263665
Myh9-Related Disease	Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Myocardial infarction, Nephro...	ORPHA:182050
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Hypocalciuric Hypercalcemia, Familial, Type Ii	Peptic ulcer, Primary hyperparathyroidism, Pancreatitis, Multiple lipomas	OMIM:145981
Roifman-Chitayat Syndrome	Osteopenia, Short metacarpal, Pneumonia, Ectopic kidney, Short neck, Short metatarsal, Cone-shape...	OMIM:613328
Hypocalcemic Vitamin D-Dependent Rickets	Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Deformed rib cage, Femoral ...	ORPHA:289157
Infantile Liver Failure Syndrome 2	Acute hepatic failure, Lethargy, Vomiting	OMIM:616483
Dystonia 1, Torsion, Autosomal Dominant	Depression, Abnormal posturing, Dysphagia	OMIM:128100
Whim Syndrome	Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R...	ORPHA:51636
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon...	ORPHA:2771
Ullrich Congenital Muscular Dystrophy 2	Kyphoscoliosis, Flexion contracture, High palate, Joint hypermobility	OMIM:616470
Microphthalmia, Syndromic 13	Kyphoscoliosis	OMIM:300915
Alpha-Fetoprotein, Hereditary Persistence Of	Elevated circulating alpha-fetoprotein concentration	OMIM:615970
Microcephalic Primordial Dwarfism, Montreal Type	Cryptorchidism, Kyphosis, Congenital pyloric atresia, Reduced bone mineral density, Vertebral seg...	ORPHA:2617
Hemophilia A	Osteoarthritis, Joint hemorrhage	OMIM:306700
Dowling-Degos Disease	Penile freckling, Abnormality of the hand, Pruritus, Palmar pits, Arthritis, Anal margin squamous...	ORPHA:79145
Mosaic Trisomy 8	Camptodactyly of finger, Short neck, Cryptorchidism, Patellar aplasia, Abnormal rib morphology, V...	ORPHA:96061
Klippel-Feil Syndrome 1, Autosomal Dominant	Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly...	OMIM:118100
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Lethargy, Feeding difficulties	ORPHA:276580
Pfapa Syndrome	Arthritis, Malabsorption, Infectious encephalitis, Weight loss	ORPHA:42642
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal...	OMIM:609945
Isovaleric Acidemia	Lethargy, Vomiting	OMIM:243500
Kindler Epidermolysis Bullosa	Recurrent skin infections, Esophageal stricture, Cheilitis, Neoplasm of the urethra, Squamous cel...	ORPHA:2908
Systemic Lupus Erythematosus	Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis	OMIM:152700
Vacterl/Vater Association	Bifid scrotum, Hypoplasia of penis, Abnormal intervertebral disk morphology, Ectopic kidney, Abno...	ORPHA:887
Hypercalcemia, Infantile, 1	Lethargy, Vomiting	OMIM:143880
Multifocal Atrial Tachycardia	Feeding difficulties in infancy, Lethargy, Cryptorchidism	ORPHA:3282
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lethargy, Feeding difficulties	OMIM:618232
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
X-Linked Emery-Dreifuss Muscular Dystrophy	Waddling gait, Back pain, Scapular winging, Proximal muscle weakness in upper limbs, Joint stiffn...	ORPHA:98863
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon...	OMIM:620189
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Prominent metopic ridge, Small scrotum, Arachnodactyly, Camptodactyly of finge...	ORPHA:2215
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas...	OMIM:620138
Harrod Syndrome	Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Cryptorchidism, Kyphosis, Abnormal sho...	ORPHA:2115
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol...	OMIM:615703
Osteogenesis Imperfecta, Type Viii	Osteopenia, Multiple prenatal fractures, Tibial bowing, Femoral bowing, Decreased skull ossificat...	OMIM:610915
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dyspha...	OMIM:606612
Insulinoma	Neoplasm of the adrenal gland, Zollinger-Ellison syndrome, Pituitary prolactin cell adenoma, Leth...	ORPHA:97279
Koolen-De Vries Syndrome	High palate, Vesicoureteral reflux, Prominent fingertip pads, Vertebral fusion, Prominent metopic...	OMIM:610443
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valga, Short neck,...	ORPHA:263508
Hyperinsulinism Due To Hnf1A Deficiency	Lethargy, Feeding difficulties	ORPHA:324575
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Kyphoscoliosis, Premature ovarian insufficiency, 2-3 toe syndactyly, Scoliosis	ORPHA:391307
Combined Oxidative Phosphorylation Defect Type 39	Cryptorchidism, Congenital foot contractures, Ankle clonus, Tip-toe gait, Scoliosis, Loss of ambu...	ORPHA:565624
X-Linked Intellectual Disability, Hedera Type	Inability to walk, Calcaneovalgus deformity, Unsteady gait, Obesity, Dysmetria, Gait disturbance,...	ORPHA:93952
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex, Coxa valga, Short tubular bones of ...	ORPHA:85184
Leprechaunism	Abdominal distention, Rectal prolapse, Megarectum, Facial hypertrichosis, Hypertrichosis	ORPHA:508
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Decreased palmar creases, Triphalangeal thumb, Aplasia of the ovary, Aplasia/hypoplas...	ORPHA:2232
Marfan Syndrome	Arachnodactyly, Genu recurvatum, Kyphoscoliosis, Equinus calcaneus, Pectus excavatum, Metatarsus ...	OMIM:154700
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux, Lethargy	OMIM:201475
Osteogenesis Imperfecta, Type Xx	Kyphoscoliosis, Multiple prenatal fractures, Narrow palate, Asymmetry of the thorax, High palate,...	OMIM:618644
Achondrogenesis, Type Ib	Abdominal distention	OMIM:600972
Ane Syndrome	Ulnar deviation of the hand, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrea...	ORPHA:157954
Acute Lung Injury	Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneumonia, Elevated circul...	ORPHA:178320
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, High ...	OMIM:182212
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Pectus excavatum, Choreoathetosis, Lumbar kyphoscoliosis, High palate, Dysphagia, Clinoda...	OMIM:619422
Hereditary Fructose Intolerance	Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ...	ORPHA:469
Gaucher Disease	Osteopenia, Joint dislocation, Increased bone mineral density, Osteomyelitis, Proteinuria, Recurr...	ORPHA:355
Familial Thyroid Dyshormonogenesis	Feeding difficulties in infancy, Macroglossia, Constipation, Lethargy	ORPHA:95716
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Short metatarsal, Spinal canal stenosis, Advanced ossification of carpal bones,...	OMIM:614613
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Lethargy, Vomiting	OMIM:600649
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Lethargy, Synophrys, Long eyelashes	OMIM:619064
Cortical Dysplasia, Complex, With Other Brain Malformations 11	High, narrow palate, Synophrys, Ileus, High palate	OMIM:620156
Marshall Syndrome	Osteoarthritis, High palate, Cleft palate, Genu valgum	ORPHA:560
Spastic Paraplegia 46, Autosomal Recessive	Urinary incontinence, Kyphosis, Ankle clonus, Infertility, Scoliosis, Upper limb dysmetria, Limb ...	OMIM:614409
Cerebral Creatine Deficiency Syndrome 1	Aganglionic megacolon, Feeding difficulties in infancy, Ileus, Constipation, Vomiting	OMIM:300352
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femoral bowing, Kn...	OMIM:600920
Thrombocytopenia-Absent Radius Syndrome	Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th fing...	OMIM:274000
Blue Diaper Syndrome	Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine, Hyperphosphatemia	ORPHA:94086
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Pectus excavatum, Kyphosis, Cervical ribs	ORPHA:77300
Fraser Syndrome 2	Intestinal malrotation, Short neck, Abdominal distention, Rectal atresia, Hypoplasia of the thymu...	OMIM:617666
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Abn...	ORPHA:1225
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Lethargy, Diarrhea, Vomiting, Decreased liver function	ORPHA:42
Gallbladder Neuroendocrine Tumor	Anorexia, Biliary tract neoplasm, Abdominal distention, Episodic abdominal pain, Neoplasm of the ...	ORPHA:100086
Cleidocranial Dysplasia 2	Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delayed ossification of carpa...	OMIM:620099
Immunodeficiency 23	Hemolytic anemia, Membranoproliferative glomerulonephritis, Allergic rhinitis, Eczema, Eosinophil...	OMIM:615816
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Truncal titubation, Lethargy, Vomiting, Dysphagia	OMIM:607483
Gm1 Gangliosidosis	Abnormal form of the vertebral bodies, Gastroesophageal reflux, Aspiration pneumonia, Infectious ...	ORPHA:354
Pneumocystosis	Abnormal neutrophil count, Acute infectious pneumonia, Interstitial pneumonitis, Neoplasm, Increa...	ORPHA:723
Achondrogenesis, Type Ii	Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ...	OMIM:200610
C1Q Deficiency 2	Chilblains, Discoid lupus rash, Bronchiectasis, Arthritis, Recurrent otitis media, Malar rash	OMIM:620321
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Malabsorption, Cryptorchidism, Leukocytosis, Lymphoma, Lymphadenopath...	ORPHA:99812
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
Craniometadiaphyseal Dysplasia	Osteopenia, Broad long bones, Coxa valga, Cubitus valgus, Wide anterior fontanel, Flared metaphys...	OMIM:269300
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Protein avoidance, Lethargy, Vomiting	OMIM:237300
Acheiropody	Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab...	OMIM:200500
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Neutropenia, Decreased circulating antibod...	OMIM:601495
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Postaxial foot polydactyly,...	OMIM:225500
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa...	ORPHA:1860
Prader-Willi Syndrome	Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, External genita...	OMIM:176270
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Osteomyelitis, Skin rash, Neutrophilia, Abscess, Pustule, Splenomegaly, Fused cervi...	OMIM:612852
Autosomal Dominant Popliteal Pterygium Syndrome	Bifid scrotum, Finger syndactyly, Toe syndactyly, Small scrotum, Joint stiffness, Cryptorchidism,...	ORPHA:1300
Mcdonough Syndrome	Cachexia, Pectus excavatum, Cryptorchidism, Kyphosis, Scoliosis, Bilateral single transverse palm...	ORPHA:2471
Emery-Dreifuss Muscular Dystrophy	Waddling gait, Back pain, Scapular winging, Proximal muscle weakness in upper limbs, Joint stiffn...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Waddling gait, Back pain, Scapular winging, Proximal muscle weakness in upper limbs, Joint stiffn...	ORPHA:98853
Orofaciodigital Syndrome Iii	Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum	OMIM:258850
Combined Oxidative Phosphorylation Deficiency 7	Paralytic ileus, Dysphagia	OMIM:613559
Hutchinson-Gilford Progeria Syndrome	Osteoarthritis, Reduced bone mineral density, High palate, Limitation of movement at ankles, Abno...	ORPHA:740
Primary Biliary Cholangitis	Portal hypertension, Increased circulating IgA level, Celiac disease, Abdominal distention, Jaund...	ORPHA:186
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Wrist swelling, Slender long bone, Metacarpal osteolysis, Abnormal epiph...	ORPHA:2774
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Annular pancreas, Tr...	ORPHA:210122
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Scoliosis, Thin ribs	OMIM:615220
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Bicoronal synostosis, Sandal gap, Rocker bottom foot, Camptodactyly of finger, Sup...	OMIM:619951
2P15P16.1 Microdeletion Syndrome	Enlarged thorax, High palate, Bilateral single transverse palmar creases, Multicystic kidney dysp...	ORPHA:261349
Opsismodysplasia	Short metacarpal, Rhizomelia, Anterior rib cupping, Short neck, Hypoplasia of the odontoid proces...	OMIM:258480
Lipodystrophy, Congenital Generalized, Type 4	Pyloric stenosis, Ileus, Feeding difficulties, Constipation, Dysphagia, Hirsutism	OMIM:613327
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis	OMIM:617772
Trisomy 1Q	Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Small scro...	ORPHA:261344
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Poor appetite, Diarrhea, Hypogonadism, Lethargy, Alopecia of scalp, Decreased testicular size	OMIM:201100
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Carpal synostosis, Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis	ORPHA:2010
19P13.12 Microdeletion Syndrome	Short palm, Finger syndactyly, Sandal gap, Hypospadias, Craniosynostosis, Short neck, Precocious ...	ORPHA:254346
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Lethargy	ORPHA:276608
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Feeding difficulties in infancy, Exocrine pancreatic insufficiency, Neutropenia, Steatorrhea	OMIM:618752
Occipital Horn Syndrome	Osteopenia, High, narrow palate, Coxa vara, Pectus carinatum, Humerus varus, Gastroesophageal ref...	ORPHA:198
Benign Samaritan Congenital Myopathy	Lethargy	ORPHA:324581
Mosaic Trisomy 9	Hypoplasia of penis, Micromelia, Short neck, Hemivertebrae, Finger clinodactyly, High palate, Abn...	ORPHA:99776
Idiopathic Camptocormia	Myositis, Abnormal intervertebral disk morphology, Osteoarthritis, Spinal canal stenosis, Abnorma...	ORPHA:1320
Primary Ciliary Dyskinesia	Intestinal malrotation, Abnormal sperm motility, Asplenia, Bronchiectasis, Recurrent otitis media...	ORPHA:244
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Childhood-onset truncal obesity, Obesity	ORPHA:71529
Melas	Hypoparathyroidism, Diabetes mellitus, Intestinal pseudo-obstruction, Hypogonadotropic hypogonadi...	ORPHA:550
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f...	OMIM:272460
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephr...	OMIM:203500
Xylt1-Cdg	Joint laxity, Joint dislocation, Acne, Coxa valga, Flared metaphysis, Cleft palate, Truncal obesi...	ORPHA:370930
Campomelia, Cumming Type	Bowing of the long bones, Multicystic kidney dysplasia, Abnormally ossified vertebrae, Micromelia...	ORPHA:1318
Currarino Syndrome	Anal stenosis, Perianal abscess, Gastrointestinal obstruction, Abdominal distention, Presacral te...	OMIM:176450
Cartilage-Hair Hypoplasia	Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Short palm, Joint laxity, Lumbar h...	OMIM:250250
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst...	OMIM:614227
Pseudo-Torch Syndrome 3	Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Carnitine Deficiency, Systemic Primary	Lethargy, Diarrhea, Vomiting	OMIM:212140
Glucose-Galactose Malabsorption	Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting	ORPHA:35710
Pyruvate Dehydrogenase E1-Alpha Deficiency	Lethargy	OMIM:312170
Wieacker-Wolff Syndrome	Proximal placement of thumb, Short neck, Hyperlordosis, Kyphosis, Hip dislocation, Congenital foo...	OMIM:314580
Tarp Syndrome	Extramedullary hematopoiesis, Cryptorchidism, Cleft palate, Glossoptosis, Scoliosis, Abnormal duo...	ORPHA:2886
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi...	ORPHA:93317
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase ...	OMIM:608836
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Arachnodactyly, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis	ORPHA:1883
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Neutropenia, Mo...	ORPHA:95455
Fgfr2-Related Bent Bone Dysplasia	Extramedullary hematopoiesis, Hepatosplenomegaly	ORPHA:313855
Sialidosis Type 2	Splenomegaly, Kyphosis, Hepatomegaly	ORPHA:87876
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Skin rash, Sple...	ORPHA:167
Psoriasis 14, Pustular	Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis, Furrow...	OMIM:614204
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti...	ORPHA:79345
Psoriasis-Related Juvenile Idiopathic Arthritis	Finger dactylitis, Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalize...	ORPHA:85436
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Distal Triplication 15Q	Abnormal external genitalia, Arachnodactyly, Craniosynostosis, Large for gestational age, Kyphosi...	ORPHA:314588
Kenny-Caffey Syndrome, Type 1	Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Small hand, Thin ribs...	OMIM:244460
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Abnormality of the bl...	ORPHA:29073
Congenital Factor Xiii Deficiency	Inflammation of the large intestine, Hepatic failure, Myeloid leukemia	ORPHA:331
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Increased density of long bones, Single transverse palmar crease, Short neck, Tibi...	OMIM:269150
Cranioectodermal Dysplasia 1	Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti...	OMIM:218330
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Protuberant abdomen	OMIM:618272
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Narrow greater sciatic notch, ...	OMIM:253220
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,...	OMIM:617821
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce...	ORPHA:90186
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Failure to thrive in infancy, Tapered finger, Pect...	ORPHA:193
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Upper limb hypertonia, Pectus carinatum	OMIM:614898
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Abdominal distention, Cryptorchidism, Cleft palate, High palate, Protein-losing enteropathy, Hepa...	OMIM:235255
Myopathy, Centronuclear, 2	Waddling gait, Scapular winging, Hyperlordosis, Kyphosis, Flexion contracture, High palate, Talip...	OMIM:255200
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Streak ovary, Hypospadias, Jejunal atresia, Kyphoscoliosis, Joint stiffness, Ileal at...	OMIM:618820
Monosomy 22	Aplasia of the thymus, Seborrheic dermatitis, Short neck, Schwannoma, Hypochromic microcytic anem...	ORPHA:96123
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick...	ORPHA:1328
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy	OMIM:610006
Systemic Sclerosis	Flexion contracture, Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morph...	ORPHA:90291
Hypocalciuric Hypercalcemia, Familial, Type I	Parathyroid adenoma, Hyperparathyroidism, Pancreatitis	OMIM:145980
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis	OMIM:314300
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Hypohidrosis, Colitis	OMIM:301220
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Glycogen Storage Disease Ia	Hepatomegaly, Delayed puberty, Gout, Protuberant abdomen, Hepatocellular carcinoma, Intermittent ...	OMIM:232200
Baralle-Macken Syndrome	Urinary incontinence, Tapered finger, Inability to walk, Kyphosis, High, narrow palate, Obesity	OMIM:619255
Bullous Impetigo	Pustule, Septic arthritis, Recurrent bacterial skin infections	ORPHA:36237
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Moderate Hemophilia A	Gastrointestinal hemorrhage, Hip contracture, Arthropathy, Cartilage destruction, Limitation of j...	ORPHA:169805
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Arachnodactyly, Ataxia, Short neck, Calcaneovalgus deformity, Adducted thumb, Flexion contracture...	ORPHA:562528
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Abdominal distention, Gastroesophageal reflux, Feeding difficulties	OMIM:620275
Lenz-Majewski Hyperostotic Dwarfism	External genital hypoplasia, Epispadias, High, narrow palate, Abnormal finger morphology, Symphal...	ORPHA:2658
Carnitine Palmitoyltransferase I Deficiency	Lethargy, Diarrhea, Feeding difficulties	OMIM:255120
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Ectopic kidney, Hemive...	OMIM:146510
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s...	OMIM:605282
Dysostosis, Stanescu Type	Bowing of the long bones, Increased bone mineral density, Persistent open anterior fontanelle, Mi...	ORPHA:1798
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing, Dysphagia	ORPHA:216866
Seckel Syndrome 8	Kyphoscoliosis, Ectopic kidney	OMIM:615807
Gapo Syndrome	Tubulointerstitial fibrosis	OMIM:230740
Late-Onset Isolated Acth Deficiency	Nausea and vomiting, Premature ovarian insufficiency, Anorexia, Abdominal pain, Celiac disease, P...	ORPHA:199299
Yao Syndrome	Pericarditis, Inflammatory abnormality of the skin, Skin rash, Xerostomia, Nephrolithiasis, Weigh...	OMIM:617321
Marshall Syndrome	Radial bowing, Coxa valga, Hypoplastic ilia, Ulnar bowing, Irregular femoral epiphysis, Wide tuft...	OMIM:154780
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Abnormality of the gastrointestinal tract, Lethargy	ORPHA:2089
Trisomy 20P	Short neck, Abnormal form of the vertebral bodies, Reduced bone mineral density, Vertebral segmen...	ORPHA:261318
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Akinesia, Multiple pterygia, Fl...	OMIM:253290
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Abnormal rib morphology, Hand polydac...	ORPHA:2167
Intellectual Developmental Disorder, Autosomal Dominant 26	Small for gestational age, Decreased palmar creases, Kyphosis, Scoliosis, Clinodactyly of the 5th...	OMIM:615834
Microphthalmia, Syndromic 9	Cryptorchidism, Hypoplastic spleen, Multilobulated spleen	OMIM:601186
Paternal Uniparental Disomy Of Chromosome 5	Abnormal fibular epiphysis morphology, Rhizomelic arm shortening, Short lower limbs, Kyphoscoliosis	ORPHA:96190
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Scoliosis	ORPHA:79107
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Cleft palate, Thin ribs, Slender long bone, Decreased calvarial ossification, D...	OMIM:618265
Marfanoid Habitus With Situs Inversus	Hyperextensibility of the finger joints, Arachnodactyly, Genu recurvatum, Kyphosis, Pectus carina...	OMIM:609008
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Rectal prolapse, Feeding difficulties, Gastroesophageal reflux, High palate, Sparse hair, Frontal...	OMIM:617157
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Failure to thrive, Flexion contracture	OMIM:618237
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Astrocytoma, Insulin-resistant diabetes mellitus, Lymphoma, Hyp...	ORPHA:79086
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis	OMIM:120100
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Limitation of joint mobility	ORPHA:2582
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Cryptorchidism, Xerostomia, Primary amenorrhea, Feeding difficulties, C...	ORPHA:398069
Acute Promyelocytic Leukemia	Pancytopenia, Anorexia, Abdominal pain, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopen...	ORPHA:520
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Lethargy, High palate, Feeding difficulties	OMIM:604377
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly,...	OMIM:608233
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Abnormal f...	ORPHA:2769
Chromosome 3Q13.31 Deletion Syndrome	Proximal placement of thumb, Cryptorchidism, Kyphosis, High palate, Shawl scrotum, Micropenis, De...	OMIM:615433
Eec Syndrome	Decreased response to growth hormone stimulation test, Keratitis, Lymphoma, Xerostomia, Cleft pal...	ORPHA:1896
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ...	OMIM:301050
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Missing ribs, Absent external genitalia, Short neck, Rib fusio...	OMIM:271520
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Abnormal rib morphology, Femoral bowin...	ORPHA:83
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Pectus excavatum, Calcaneovalgus deformity, Genu recurvatum, Joint laxity	OMIM:225320
Seckel Syndrome 10	Acute pancreatitis, Diabetes mellitus, Elevated hemoglobin A1c, Elevated circulating luteinizing ...	OMIM:617253
Pfeiffer Syndrome	Finger syndactyly, Brachydactyly, Hyperlordosis, Short neck, Symphalangism affecting the phalange...	ORPHA:710
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Myelodysplasia, Diarrhea, Lymphad...	OMIM:617827
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Primary hyperparathyroidism, Pancreatitis, Multiple lipomas	OMIM:600740
Sarcoidosis	Renal insufficiency, Abnormal cardiac ventricular function, Maculopapular exanthema, Portal hyper...	ORPHA:797
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t...	OMIM:208540
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cholangitis, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria, Hypertrophic cardiomyop...	OMIM:124000
Koolen-De Vries Syndrome	Ureteral duplication, Vertebral fusion, Arachnodactyly, Hypospadias, Pectus excavatum, Cryptorchi...	ORPHA:96169
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Abnormal vertebral morphology	ORPHA:280195
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration, Obesity	OMIM:603233
Microphthalmia, Lenz Type	Abnormal clavicle morphology, Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of finge...	ORPHA:568
Pontocerebellar Hypoplasia, Type 10	Kyphoscoliosis, Short neck, Tapered finger, Cryptorchidism, High palate, Gastroesophageal reflux	OMIM:615803
Ciliary Dyskinesia, Primary, 1	Pneumonia, Asplenia, Bronchiectasis, Chronic rhinitis, Chronic otitis media, Chronic sinusitis	OMIM:244400
Idiopathic Chronic Eosinophilic Pneumonia	Abnormality of the gastrointestinal tract, Leukocytosis, Increased circulating IgE level, Hypereo...	ORPHA:2902
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Joint laxity, Ataxia, Kyphoscoliosis, Cryptorchidism, Kyphosis, High, narrow palat...	OMIM:300967
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Short middle phalanx of the 2nd finger, Coxa vara, Narrow ch...	OMIM:119600
Letterer-Siwe Disease	Seborrheic dermatitis, Abdominal distention, Jaundice, Thrombocytopenia, Hepatosplenomegaly, Neut...	OMIM:246400
Combined Oxidative Phosphorylation Defect Type 7	Paralytic ileus, Gastrostomy tube feeding in infancy, Oral-pharyngeal dysphagia	ORPHA:254930
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Xerostomia, Primary amen...	ORPHA:398079
Cystinuria	Hematuria, Nephrolithiasis, Renal insufficiency, Hyperuricemia	ORPHA:214
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Vertebral fusion, Exercise-induced myoglobinuria, Hyperlordosis, Kyphosis, Achille...	OMIM:607155
Cole-Carpenter Syndrome 2	Wide cranial sutures, Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, Lambdoidal craniosyno...	OMIM:616294
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, S...	OMIM:616300
Meconium Ileus	Chronic diarrhea, Microcolon, Meconium ileus	OMIM:614665
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Abdominal pain, Diarrhea, Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Anoperinea...	OMIM:613960
Pediatric Systemic Lupus Erythematosus	Abnormality of the gastrointestinal tract, Alopecia, Abdominal pain, Abdominal distention, Diarrh...	ORPHA:93552
Kagami-Ogata Syndrome	Kyphoscoliosis, Large for gestational age, Coxa valga, Short neck, Limitation of joint mobility, ...	ORPHA:254519
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, L...	OMIM:213980
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Angiofibromas, Fasting hyperinsulinemi...	ORPHA:276152
Oligoarticular Juvenile Idiopathic Arthritis	Knee osteoarthritis, Oligoarthritis, Uveitis, Abnormality of the ankle, Rheumatoid arthritis, Fai...	ORPHA:85410
Crigler-Najjar Syndrome	Lethargy	ORPHA:205
Osteoporosis-Pseudoglioma Syndrome	Barrel-shaped chest, Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widen...	OMIM:259770
Cdags Syndrome	Hypospadias, Delayed cranial suture closure, Sagittal craniosynostosis, Rectourethral fistula, Ky...	OMIM:603116
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Short neck, Coxa v...	ORPHA:1517
Primary Dystonia, Dyt4 Type	Eunuchoid habitus, Kyphoscoliosis, Dysdiadochokinesis, Gait disturbance, Dysphagia	ORPHA:98805
Hypocomplementemic Urticarial Vasculitis	Joint dislocation, Episcleritis, Renal insufficiency, Proteinuria, Ataxia, Skin rash, Pruritus, U...	ORPHA:36412
Thyroid Hypoplasia	Macroglossia, Constipation, Abdominal distention	ORPHA:95720
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of...	ORPHA:1507
Stuve-Wiedemann Syndrome 1	Enlarged joints, Single transverse palmar crease, Short neck, Femoral bowing, Tibial bowing, Knee...	OMIM:601559
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Lethargy, Vomiting	OMIM:614299
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Kyphoscoliosis, Delayed closure of the anterior fontanell...	ORPHA:2834
Cardiofacioneurodevelopmental Syndrome	Asplenia, Kyphosis, Feeding difficulties in infancy, Cryptorchidism, Cleft palate, Abdominal situ...	OMIM:619123
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Inability to walk, Kyphosis, Unsteady gait, Small...	OMIM:618443
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abdominal distention, Chronic diarrhea, Gastroesophageal reflux, Vomiting, Lethargy	OMIM:620233
Ogden Syndrome	Cryptorchidism, High, narrow palate, Fine hair, Lethargy, Aplasia/Hypoplasia of the eyebrow	ORPHA:276432
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Feeding difficulties in infancy, Cryptorchidism, Hirsutism, Megarectum	OMIM:301056
Cutis Laxa, Autosomal Recessive, Type Iic	Joint laxity, Overlapping toe, Kyphoscoliosis, Bilateral cryptorchidism, Pyloric stenosis, Knee f...	OMIM:617402
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Short neck, Kyphosis, Small hand, Short foot, Scoliosis, Short palm	ORPHA:238750
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal...	OMIM:140000
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Truncal obesity, Kyphosis, Gait disturbance, Scoliosis	ORPHA:2429
Diffuse Cutaneous Systemic Sclerosis	Dyspareunia, Renal insufficiency, Malabsorption, Flexion contracture, Xerostomia, Osteolysis, Oli...	ORPHA:220393
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Anterior pituitary hypoplasia, Renal cyst, Gastroesophageal reflux, ...	ORPHA:464306
Thanatophoric Dysplasia Type 2	Micromelia, Kyphosis, Short thorax, Platyspondyly, Narrow chest, Abnormal metaphysis morphology, ...	ORPHA:93274
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Hemivertebrae, Knee flexi...	OMIM:151050
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Small for gestational age, Rocker bottom foot, Calcaneovalgus deformi...	ORPHA:3078
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont...	OMIM:312150
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Bifid scrotum, Joint hypermobility, Cryptorchidism, Glandular hypospadias, Thin ribs, Blind vagin...	ORPHA:456328
Hypouricemia, Renal, 2	Hypouricemia, Nephrolithiasis	OMIM:612076
Fountain Syndrome	Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Pectus excavatum, Kyp...	ORPHA:3219
Bardet-Biedl Syndrome 3	Renal hypoplasia, Obesity	OMIM:600151
Muckle-Wells Syndrome	Episcleritis, Skin rash, Camptodactyly of finger, Uveitis, Nephrotic syndrome, Arthritis, Conjunc...	ORPHA:575
Congenital Heart Defects And Skeletal Malformations Syndrome	Arachnodactyly, Sandal gap, Hypospadias, Intestinal malrotation, Pectus excavatum, Cryptorchidism...	OMIM:617602
Subaortic Stenosis-Short Stature Syndrome	Acne, Bilateral single transverse palmar creases, Short neck, Kyphosis, Obesity, Scoliosis, Synos...	ORPHA:3191
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Lethargy	OMIM:236270
Liver Failure, Infantile, Transient	Acute hepatic failure, Feeding difficulties in infancy, Vomiting, Abdominal distention	OMIM:613070
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Lethargy, Vomiting	OMIM:201450
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Feeding difficulties in infancy, Lethargy, Vomiting	OMIM:210200
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Lethargy, Anorexia	OMIM:611590
Cowden Syndrome 5	Colonic diverticula, Hyperthyroidism, Subcutaneous lipoma, Kyphosis, Thyroiditis, Breast carcinom...	OMIM:615108
Kasabach-Merritt Syndrome	Abdominal pain, Abdominal distention, Hepatic hemangioma, Capillary hemangioma, Neoplasm of the s...	ORPHA:2330
Cowden Syndrome 6	Colonic diverticula, Hyperthyroidism, Subcutaneous lipoma, Kyphosis, Fibroadenoma of the breast, ...	OMIM:615109
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Failure to thrive, Osteoporosis, Scoliosis	OMIM:618234
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy	OMIM:618120
Osteogenesis Imperfecta, Type Xviii	Bowing of the long bones, Femoral bowing, Thin ribs, Biconcave vertebral bodies, Wormian bones, V...	OMIM:617952
Trichorhinophalangeal Syndrome, Type Ii	Osteochondroma, Chronic gastritis, Thoracolumbar scoliosis, Bilateral cryptorchidism, Recurrent p...	OMIM:150230
2Q31.1 Microdeletion Syndrome	Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, Clinodactyly of...	ORPHA:251014
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreased serum leptin, Splenomegaly, ...	OMIM:269700
Hereditary Orotic Aciduria	Splenomegaly, Impaired T cell function, Anemia	ORPHA:30
Treacher-Collins Syndrome	Cryptorchidism, Tracheoesophageal fistula, Cleft palate, Glossoptosis, Multiple enchondromatosis,...	ORPHA:861
Caroli Disease	Liver abscess, Cholangitis, Anorexia, Vomiting, Hepatic fibrosis, Nausea, Hepatomegaly, Portal hy...	ORPHA:53035
3C Syndrome	Finger syndactyly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Missing ribs, Short ...	ORPHA:7
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Ectopic kidney, Short neck, High, narrow palate, Reduced bone mineral density, Gastro...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Ectopic kidney, Short neck, High, narrow palate, Reduced bone mineral density, Gastro...	ORPHA:99228
Monosomy X	Osteopenia, Ectopic kidney, Short neck, High, narrow palate, Reduced bone mineral density, Gastro...	ORPHA:99226
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint laxity, Genu recurvatum, Cryptorchidism, Kyphosis, Narrow palate, Scoliosis, Micropenis, Sl...	ORPHA:364028
Turner Syndrome	Osteopenia, Ectopic kidney, Short neck, High, narrow palate, Reduced bone mineral density, Gastro...	ORPHA:881
Multiple Endocrine Neoplasia Type 2	Multiple mucosal neuromas, Cervical neoplasm, Paraganglioma of head and neck, Aganglionic megacol...	ORPHA:653
Congenital Myopathy 22A, Classic	Waddling gait, Hip contracture, Scapular winging, Thoracic scoliosis, Spinal rigidity, Pectus exc...	OMIM:620351
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Hallux valgus, Joint laxity, Ataxia, Anterior pituitary hypoplasia, Supernumerary nipple, Kyphosc...	ORPHA:466791
Waardenburg Syndrome, Type 3	Scapular winging, Camptodactyly of finger, Cutaneous finger syndactyly, Carpal synostosis, Clinod...	OMIM:148820
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Vertebral segmentation defect, Scolios...	ORPHA:1323
Fanconi Anemia, Complementation Group O	Cryptorchidism, Rectal atresia, Anal atresia	OMIM:613390
Osteopathia Striata With Cranial Sclerosis	Osteopathia striata, Craniofacial osteosclerosis, High palate, Gastroesophageal reflux, Clinodact...	OMIM:300373
Al Amyloidosis	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Gastroparesis, Abdominal ...	ORPHA:85443
Spinal Dysplasia, Anhalt Type	Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Coxa vara, Absent spinou...	OMIM:601344
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Gastrointestinal dysmotility, Hemivertebrae, Gastroesophageal reflux, Decreased circulating IgG l...	ORPHA:500150
Kid Syndrome	Angular cheilitis, Equinus calcaneus, Posterior blepharitis, Patellar hypoplasia, Knee flexion co...	ORPHA:477
Radio-Renal Syndrome	Micromelia, Short neck, Hypoplasia of the radius, Abnormal rib morphology, Abnormality of the elb...	ORPHA:3015
Carnitine Palmitoyl Transferase 1A Deficiency	Lethargy, Hepatic failure	ORPHA:156
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Proteinuria, Elevated circulating creatinine concentration, Normochromic anemi...	ORPHA:247691
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Diarrhea, Reticulocytopenia,...	OMIM:275350
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Jaundice, Leukocytosis, Poikilocytos...	OMIM:300908
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Clinodactyly of the 5th finger, Single transverse palmar crease, Kyphoscoliosis	OMIM:620075
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short neck, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Narrow greater sciatic notc...	OMIM:617925
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Renal cyst, Gastroesophageal reflux, Micropenis, Pelvic kidney, Abnormality of the cervical spine...	ORPHA:464311
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Epispadias, High, narrow palate, Clitoral hypoplasia, Clinodactyly of the 5t...	ORPHA:2554
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Lateral clavicle hook, Early ossification of capital femoral epiphyses, C...	OMIM:208500
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Brachydactyly, Kyphosis, Abnormality of the elbow, Hip dislocation, Vertebral ...	ORPHA:1005
Basel-Vanagaite-Smirin-Yosef Syndrome	Single transverse palmar crease, High, narrow palate, Pectus carinatum, Male urethral meatus sten...	ORPHA:464738
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased serum leptin, Splenomegaly, Hyperi...	OMIM:608594
Holocarboxylase Synthetase Deficiency	Feeding difficulties in infancy, Lethargy, Alopecia, Vomiting	OMIM:253270
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Craniosynostosis, Pyloric stenosis, Rib fusion, Obesity, Cleft pala...	ORPHA:261197
Ivic Syndrome	Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s...	ORPHA:2307
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abdominal distention, Cryptorchidism, High palate, Protein-losing enteropathy, Hepatic failure, H...	ORPHA:1655
Williams Syndrome	Colonic diverticula, Nausea and vomiting, Hypogonadotropic hypogonadism, Peptic ulcer, Malabsorpt...	ORPHA:904
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Cutis Laxa, Autosomal Recessive, Type Iid	Kyphoscoliosis, Bilateral cryptorchidism, Hip dislocation, Hip dysplasia, Joint contracture, Tali...	OMIM:617403
Sialuria	Synophrys, Low posterior hairline, Macroglossia, High palate, Hypoplastic nipples, Protuberant ab...	OMIM:269921
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Mucolipidosis Ii Alpha/Beta	Osteopenia, Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypoplasia of the odontoid proces...	OMIM:252500
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Hemivertebrae, Gastroesophageal reflux, Micropen...	OMIM:134780
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Pectus excavatum, Bilateral cryptorchi...	ORPHA:3042
Aspergillosis	Osteomyelitis, Sinusitis, Pneumonia, Keratitis, Increased circulating IgE level, Abnormal rib mor...	ORPHA:1163
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Osteoporosis	ORPHA:2786
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Crisponi Syndrome	Camptodactyly of finger, Kyphosis, Flexion contracture, Limitation of joint mobility, High palate...	ORPHA:1545
Aromatic L-Amino Acid Decarboxylase Deficiency	Feeding difficulties in infancy, Diarrhea, Constipation, Gastroesophageal reflux, Lethargy	OMIM:608643
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Kyphosis, Elbow flexion contracture, Proximal muscle weakness in upper limbs	OMIM:618138
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Scoliosis, Ataxia, Gait disturbance	ORPHA:101078
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal clavicle morphology, Hypospadias, Tarsal synostosis, Aplastic clavicle, Delayed cranial ...	ORPHA:85199
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	White eyelashes, Aganglionic megacolon, White eyebrow, Short-segment aganglionic megacolon, Crypt...	OMIM:609136
Isolated Atp Synthase Deficiency	Lethargy, Hypogonadism	ORPHA:254913
Familial Cold Urticaria	Pruritus, Arthritis, Conjunctivitis	ORPHA:47045
Takayasu Arteritis	Increased inflammatory response, Weight loss, Arthritis, Gastrointestinal infarctions, Inflammato...	ORPHA:3287
Hermansky-Pudlak Syndrome 1	Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain	OMIM:203300
Junctional Epidermolysis Bullosa With Pyloric Atresia	Nausea and vomiting, Abdominal distention, Congenital pyloric atresia, Nail dystrophy, Intestinal...	ORPHA:79403
Aortic Aneurysm, Familial Thoracic 12	Pectus excavatum, Arthritis, High palate, Scoliosis	OMIM:619825
Biemond Syndrome Type 2	Hypospadias, Obesity	ORPHA:141333
Scrub Typhus	Nausea and vomiting, Lethargy, Abdominal pain	ORPHA:83317
Atypical Rett Syndrome	Inability to walk, Kyphosis, Small hand, Functional abnormality of the gastrointestinal tract, Ga...	ORPHA:3095
Bardet-Biedl Syndrome 21	Overweight, Obesity, Horseshoe kidney	OMIM:617406
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Wide penis, Hypoplastic verteb...	ORPHA:3455
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti...	ORPHA:179494
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Single transverse palmar crease, ...	OMIM:229850
Diamond-Blackfan Anemia 7	Macrocytic anemia, Neutropenia, Cleft palate, Increased mean corpuscular volume, Scoliosis, Esoph...	OMIM:612562
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Lumbar hyperlordosis, Rhizomelia, Urinary incontinence, Kyphosis, Wide anterior fontanel, Palmopl...	OMIM:616482
Body Mass Index Quantitative Trait Locus 20	Obesity, Tall stature	OMIM:618406
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro...	ORPHA:2519
Monosomy 9Q22.3	Ovarian fibroma, Large for gestational age, Pectus excavatum, Short neck, Kyphosis, Palmar pits, ...	ORPHA:77301
You-Hoover-Fong Syndrome	Ataxia, Kyphoscoliosis, Pectus excavatum, Cleft palate, Clinodactyly, Brachydactyly	OMIM:616954
Bardet-Biedl Syndrome 8	Hypospadias, Obesity	OMIM:615985
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Kyphosis, Normoch...	OMIM:615512
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Elevated circulating creatinine concentration, Anemia, Increased...	ORPHA:230
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Abnormally ossified vertebrae, Missing ribs, Cryptorchidism, Abnorm...	ORPHA:3301
Ovarian Hyperstimulation Syndrome	Nausea and vomiting, Abdominal pain, Abdominal distention, Nausea, Hirsutism	ORPHA:64739
Methylcobalamin Deficiency Type Cble	Lethargy, Vomiting, Feeding difficulties	ORPHA:2169
Fumarase Deficiency	Necrotizing enterocolitis, Intrahepatic cholestasis, Cutaneous leiomyoma, High palate, Lissenceph...	OMIM:606812
Noonan Syndrome 14	Scapular winging, Short neck, Pectus excavatum, Cryptorchidism, Kyphosis, High, narrow palate, Pe...	OMIM:619745
Thyrocerebroretinal Syndrome	Nephritis	OMIM:274240
Jaberi-Elahi Syndrome	Broad-based gait, Joint stiffness, Inability to walk, Kyphosis, Dysmetria, Pectus carinatum, Chor...	OMIM:617988
Igg4-Related Dacryoadenitis And Sialadenitis	Tubulointerstitial nephritis, Myositis, Thyroiditis, Keratoconjunctivitis sicca	ORPHA:79078
Gm1-Gangliosidosis, Type I	Hepatomegaly, Short neck, Splenomegaly, Kyphosis, Vacuolated lymphocytes, Hypoplastic vertebral b...	OMIM:230500
Simple Cryoglobulinemia	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Renal insufficiency, Memb...	ORPHA:91139
Reactive Arthritis	Pericarditis, Osteomyelitis, Joint stiffness, Cartilage destruction, Pustule, Enthesitis, Weight ...	ORPHA:29207
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Ataxia, Kyphosis, Metaphyseal widening, Craniofacial osteosclerosis, In...	OMIM:618476
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Pectus carinatum, Periodontitis, Decreased skull ossification, Partial ab...	ORPHA:955
Argininosuccinic Aciduria	Dry hair, Brittle hair, Feeding difficulties in infancy, Protein avoidance, Vomiting, Lethargy, T...	OMIM:207900
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Abdominal distention	OMIM:618528
Vici Syndrome	Lymphopenia, Decreased circulating IgG2 level, Decreased T cell activation, Neutropenia, Cleft pa...	OMIM:242840
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Abdominal pain, Chronic pancreatitis, Insulin-dependent but ketosis-res...	OMIM:608189
Systemic Lupus Erythematosus, Susceptibility To, 6	Arthritis, Pericarditis, Malar rash, Abnormal renal physiology	OMIM:609939
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I...	OMIM:223900
Abetalipoproteinemia	Osteopenia, Broad-based gait, Ataxia, Kyphoscoliosis, Dysmetria, Gait ataxia, Keratoconjunctiviti...	ORPHA:14
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Overweight, Cryptorchidism, Kyphosis, Flexion contracture, Small hand, Short foot, Hip dysplasia,...	ORPHA:500055
Biotinidase Deficiency	Alopecia, Feeding difficulties in infancy, Diarrhea, Vomiting, Lethargy	OMIM:253260
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Deformed humerus, Abnormalit...	ORPHA:2975
Genetic Transient Congenital Hypothyroidism	Macroglossia, Constipation, Lethargy, Feeding difficulties	ORPHA:226316
Igg4-Related Submandibular Gland Disease	Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal fibrosis, Abnormalit...	ORPHA:449432
Pyknoachondrogenesis	Hypoplastic ischia, Short iliac bones, Micromelia, Short thorax, Abnormal iliac wing morphology, ...	ORPHA:3003
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Tracheoesophageal fistula, Feeding difficulties, High palate, Stomatitis, Lethargy, Glossitis	OMIM:277380
Farber Disease	Abnormality of the knee, Abnormality of the hand, Short toe, Flexion contracture, Osteoporosis, A...	ORPHA:333
Occipital Horn Syndrome	Persistent open anterior fontanelle, Pectus carinatum, High palate, Narrow chest, Broad ribs, Joi...	OMIM:304150
Sjögren-Larsson Syndrome	Kyphosis, Inflammatory abnormality of the eye, Scoliosis	ORPHA:816
Meningococcal Meningitis	Lethargy, Projectile vomiting, Anorexia	ORPHA:33475
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1647
Niemann-Pick Disease, Type A	Feeding difficulties in infancy, Constipation, Vomiting, Protuberant abdomen	OMIM:257200
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Poor appetite, Megaloblastic...	ORPHA:35858
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges...	ORPHA:420794
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:93941
Dysbetalipoproteinemia	Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Diabetes mellitus, Gout, Hypothyroidism	ORPHA:412
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Ectopic kidney, Renal cyst, Anteriorly placed anus, Glossoptosis, Hig...	OMIM:117650
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Gastroesophageal reflux...	ORPHA:534
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Tongue atrophy, Kyphoscoliosis, Hand muscle weakness, Ar...	ORPHA:99956
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Abdominal distention, Microcolon	OMIM:619362
Anti-Glomerular Basement Membrane Disease	Hematuria, Arthritis, Renal insufficiency, Proteinuria	ORPHA:375
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Lethargy, Diarrhea, Vomiting	ORPHA:263455
Koolen-De Vries Syndrome Due To A Point Mutation	Joint dislocation, Hand muscle atrophy, Decreased response to growth hormone stimulation test, Ca...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Joint dislocation, Hand muscle atrophy, Decreased response to growth hormone stimulation test, Ca...	ORPHA:363958
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Septic arthritis, Recurrent pneumonia, Eczema, Decreased circulating antibody level	OMIM:617780
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Short neck, High, narrow p...	ORPHA:373
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Prominent metopic ridge, Short neck, Pectus excavatum, Cryptorchidism,...	ORPHA:2789
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Thrombocytopenia, Hepatitis...	ORPHA:292
Cholesteryl Ester Storage Disease	Acute hepatic failure, Diarrhea, Esophageal varix, Vomiting, Protuberant abdomen, Steatorrhea, He...	OMIM:278000
Obesity And Hypopigmentation	Overgrowth, Obesity	OMIM:620195
Coffin-Lowry Syndrome	Highly arched eyebrow, Rectal prolapse, Narrow palate, Coarse hair, High palate, Thick eyebrow	OMIM:303600
Cholera	Achlorhydria, Abdominal pain, Diarrhea, Abdominal cramps, Vomiting, Lethargy	ORPHA:173
Williams-Beuren Syndrome	Osteopenia, Rectal prolapse, Flexion contracture, Nephrocalcinosis, Gastroesophageal reflux, Vesi...	OMIM:194050
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Intestinal pseudo-obstruction, Short neck, Splenomegaly, Diarrhea, Recurrent pneumo...	OMIM:309900
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Intestinal malrotation, Postaxial polydactyly, Cryptorchidism, Kyphosis, 2-3 toe syndactyly, Clef...	ORPHA:404440
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Hypouricemia, Large for gestational age, Hypophosphatemia, Nephro...	OMIM:616026
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Lethargy, Alopecia, Vomiting, Feeding difficulties	OMIM:210210
Donohue Syndrome	Abdominal distention, Hypertrichosis	OMIM:246200
Osteogenesis Imperfecta, Type Vii	Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,...	OMIM:610682
Restrictive Dermopathy 1	Ureteral duplication, Hypospadias, Rocker bottom foot, Limb joint contracture, Kyphoscoliosis, Th...	OMIM:275210
Shwachman-Diamond Syndrome 1	Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal sclerosis, Enlargement of the costochon...	OMIM:260400
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto...	ORPHA:86839
Cardiospondylocarpofacial Syndrome	Brachydactyly, Synostosis of carpal bones, Abnormal form of the vertebral bodies, Short palm	ORPHA:3238
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Arthritis, Crescentic glomerulonephritis	OMIM:616414
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Urinary incontinence, Iron deficiency anemia, Decreased ...	OMIM:618885
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Oligoarthritis, Polyar...	OMIM:142680
Whipple Disease	Gastrointestinal hemorrhage, Myositis, Pericarditis, Ataxia, Cachexia, Malabsorption, Myocarditis...	ORPHA:3452
Poliomyelitis	Anorexia, Paralytic ileus, Vomiting, Dysphagia, Nausea	ORPHA:2912
Alagille Syndrome	Hypoplasia of the ulna, Cryptorchidism, Abnormal rib morphology, Abnormality of the ureter, Abnor...	ORPHA:52
Reynolds Syndrome	Skin rash, Pruritus, Abnormal gastric mucosa morphology, Xerostomia, Arthritis, Keratoconjunctivi...	ORPHA:779
Combined Oxidative Phosphorylation Deficiency 11	Lethargy, Decreased liver function, Feeding difficulties	OMIM:614922
Kbg Syndrome	Syndactyly, Vertebral fusion, Single transverse palmar crease, Short neck, Epispadias, Cryptorchi...	OMIM:148050
Malt Lymphoma	Nausea and vomiting, B-cell lymphoma, Abdominal pain, Abnormality of the thyroid gland, Mediastin...	ORPHA:52417
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Decreased circulating IgG level, Villous atrophy, Premature ovarian insufficiency, Hy...	OMIM:212065
Alg1-Cdg	Abnormality of the gastrointestinal tract, Renal insufficiency, Kyphosis, Limitation of joint mob...	ORPHA:79327
Lysosomal Acid Lipase Deficiency	Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Diarrh...	ORPHA:275761
Alternating Hemiplegia Of Childhood	Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Abdominal distent...	ORPHA:2131
Hurler Syndrome	Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Limitation of joint mobility, ...	ORPHA:93473
Pmm2-Cdg	Pericarditis, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, K...	ORPHA:79318
Myhre Syndrome	Abnormal penis morphology, Craniofacial hyperostosis, Hypospadias, External genital hypoplasia, J...	ORPHA:2588
Methylmalonic Acidemia With Homocystinuria Type Cblf	Cleft palate, Feeding difficulties, Stomatitis, Lethargy, Glossitis	ORPHA:79284
Multiple Mitochondrial Dysfunctions Syndrome 1	Lethargy, Feeding difficulties	OMIM:605711
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D...	OMIM:263520
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Congenital Disorder Of Glycosylation, Type Il	Short neck, Kyphosis, Hip dislocation, Polycystic kidney dysplasia, Failure to thrive	OMIM:608776
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Single transverse palmar crease, Biliary hyperplasia, Micropenis, Pancreatic hypoplasia, Arachnod...	ORPHA:83617
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Short neck, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, H...	OMIM:269860
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti...	OMIM:307200
Paget Disease Of Bone 5, Juvenile-Onset	Barrel-shaped chest, Short humerus, Bowing of the long bones, Increased urine deoxypyridinoline l...	OMIM:239000
Congenital Disorder Of Glycosylation, Type Ig	Cryptorchidism, Lethargy, Poor suck, Feeding difficulties	OMIM:607143
Scedosporiosis	Unusual skin infection, Pericarditis, Sinusitis, Arthralgia/arthritis, Osteomyelitis, Pneumonia, ...	ORPHA:449280
Lateral Meningocele Syndrome	Vertebral fusion, Neurogenic bladder, Short neck, Pectus excavatum, Cryptorchidism, Kyphosis, Pat...	OMIM:130720
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Ataxia, Kyphosis, Gastrointestinal dysmotility, Gait ataxia, Gait disturbance, Sco...	ORPHA:88628
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Failure to thrive, Recurrent fractures, Hyperextensibility of the knee, Osteoporos...	OMIM:601812
Spinal Arteriovenous Metameric Syndrome	Abnormality of the vertebral column, Urinary bladder sphincter dysfunction, Kyphoscoliosis	ORPHA:53721
Metachromatic Leukodystrophy, Adult Form	Abdominal distention, Depression, Bowel incontinence, Neoplasm of the gallbladder	ORPHA:309271
Eosinophilic Fasciitis	Arthritis, Fasciitis, Myositis, Weight loss	ORPHA:3165
Mgat2-Cdg	Osteopenia, Decreased circulating IgG level, Pectus excavatum, Kyphosis, Patent ductus arteriosus...	ORPHA:79329
Trisomy 9P	Sacral dimple, Bilateral single transverse palmar creases, Short neck, Kyphosis, Scoliosis, Clino...	ORPHA:236
Microphthalmia, Syndromic 1	Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prolapse, High palate, Narrow chest,...	OMIM:309800
Srd5A3-Cdg	Decreased response to growth hormone stimulation test, Microcytic anemia, Kyphosis, Abnormal sacr...	ORPHA:324737
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Hydroureter, Supernumerary nipple, Unilateral renal agenesis, Pectus excavatum, ...	OMIM:619194
Arthrogryposis And Ectodermal Dysplasia	Kyphoscoliosis, Cleft palate, Camptodactyly, Arthrogryposis multiplex congenita, Joint contractur...	OMIM:601701
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Ectopic kidney, Short n...	OMIM:122470
Flynn-Aird Syndrome	Ataxia, Cachexia, Joint stiffness, Kyphosis, Bone cyst, Scoliosis	ORPHA:2047
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Sacral dimple, Short hallux, Proximal placemen...	ORPHA:2438
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, T...	ORPHA:192
Hallermann-Streiff Syndrome	Wormian bones, Small for gestational age, Abnormality of the hand, Hyperlordosis, Pectus excavatu...	OMIM:234100
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Short neck, Abnormal form of the vertebral bodi...	ORPHA:818
Marden-Walker Syndrome	Epispadias, Abnormal form of the vertebral bodies, Pectus carinatum, Bifid uvula, Abnormal penis ...	ORPHA:2461
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Small scrotum, Short neck, High palate, Gastroesophageal reflux, Vesicoureteral reflux, Micropeni...	OMIM:309580
Vater/Vacterl Association	Ectopic kidney, Preaxial polydactyly, Abnormal sternum morphology, Triphalangeal thumb, Patent ur...	OMIM:192350
Trisomy 18	Camptodactyly of finger, Cachexia, Cryptorchidism, Postaxial hand polydactyly, Esophageal atresia...	ORPHA:3380
Bardet-Biedl Syndrome 1	High, narrow palate, High palate, Micropenis, Syndactyly, Ataxia, Obesity, Postaxial foot polydac...	OMIM:209900
Multiple Endocrine Neoplasia, Type Iib	Joint laxity, Colonic diverticula, Failure to thrive in infancy, Aganglionic megacolon, Hyperlord...	OMIM:162300
Sialidosis Type 1	Splenomegaly, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:812
Familial Hypoaldosteronism	Nausea and vomiting, Lethargy, Diarrhea, Feeding difficulties	ORPHA:427
Familial Visceral Myopathy	Abdominal distention, Aganglionic megacolon, Cleft palate	ORPHA:2604
Congenital Myopathy 22B, Severe Fetal	Waddling gait, Hip contracture, Scapular winging, Thoracic scoliosis, Tapered toe, Shoulder flexi...	OMIM:620369
Hurler Syndrome	Hypoplasia of the femoral head, Coxa valga, Heparan sulfate excretion in urine, Joint stiffness, ...	OMIM:607014
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Single transverse palmar crease, Kyphosis, Recurrent pneumonia, 2-3 toe syndactyly, ...	OMIM:616449
Vexas Syndrome	Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,...	OMIM:301054
Lacrimoauriculodentodigital Syndrome	Xerostomia, Vesicoureteral reflux, Abnormal salivary gland morphology, Abnormal digit morphology,...	ORPHA:2363
Fowler Urethral Sphincter Dysfunction Syndrome	Acne, Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary rete...	ORPHA:2795
1P36 Deletion Syndrome	Hypoplasia of penis, Renal cyst, Gastroesophageal reflux, Clinodactyly of the 5th finger, Abnorma...	ORPHA:1606
Colorectal Cancer, Susceptibility To, 10	Endometrial carcinoma, Colorectal polyposis, Hereditary nonpolyposis colorectal carcinoma	OMIM:612591
Pearson Marrow-Pancreas Syndrome	Villous atrophy, Anorexia, Malabsorption, Chronic diarrhea, Vomiting, Steatorrhea, Lethargy, Hepa...	OMIM:557000
Fanconi-Bickel Syndrome	Abdominal distention, Hepatic failure, Hepatocellular carcinoma	ORPHA:2088
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Weight loss, Arthritis, Gastroesophageal reflux, Gait ...	ORPHA:732
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Anteriorly placed anus, Lethargy, Vomiting, Feeding difficulties	ORPHA:26793
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Abdominal pain, Splenomegaly, Splenic infarction, Jaundice, Leuko...	OMIM:603903
Pallister-Killian Syndrome	Small scrotum, Congenital hip dislocation, Single transverse palmar crease, Short neck, Flexion c...	OMIM:601803
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Cryptorchidism, Kyphosis, Spinal canal stenosis, Horses...	ORPHA:1724
Sclerosteosis 1	Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Deviation of finger, Abno...	OMIM:269500
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Ataxia, Tapered finger, Kyphosis, Joint hyperflexibility, High palate, Scoliosis, Met...	ORPHA:2479
Psoriasis 1, Susceptibility To	Arthritis, Psoriasiform dermatitis	OMIM:177900
Overlap Myositis	Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Dysphagia, ...	ORPHA:206572
Multiple Endocrine Neoplasia, Type I	Subcutaneous lipoma, Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hor...	OMIM:131100
Congenital Myopathy 13	Kyphoscoliosis, Cryptorchidism, Flexion contracture, Cleft palate, Bilateral talipes equinovarus,...	OMIM:255995
Microphthalmia With Limb Anomalies	Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot olig...	ORPHA:1106
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Sandal gap, Single transverse palmar crease, Tapered finger, Pectus excavatum, ...	OMIM:617061
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Gastroesophageal Reflux	Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis	OMIM:109350
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Diabetes mellitus, Pneumonia, Leukocytosis, Acute infectious pneumonia, Leukopenia,...	ORPHA:36238
Muenke Syndrome	Tarsal synostosis, Cone-shaped epiphysis, Short foot, Short palm, Carpal synostosis, Coronal cran...	ORPHA:53271
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Lethargy	OMIM:615838
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Feeding difficulties in infancy, Diarrhea, Vomiting, Lethargy	ORPHA:71212
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Limb ataxia, Dysmetria, Gait ataxia, Scoliosis	OMIM:610743
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Eunuchoid habitus, Osteopenia, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Th...	ORPHA:2463
Evans Syndrome	Lethargy	ORPHA:1959
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, Hypospadias, Pectus excavatum, Cryptorchidism, Ost...	ORPHA:286
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Abnormal form of the vertebral bodies, Gastroesophageal reflux, ...	OMIM:194190
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Kyphoscoliosis	OMIM:618339
Epidermolysis Bullosa Simplex With Pyloric Atresia	Abdominal distention, Scarring alopecia of scalp, Congenital pyloric atresia, Vomiting, Nail dyst...	ORPHA:158684
Myhre Syndrome	Short neck, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Ataxia, Cryptorchidism, Short t...	OMIM:139210
Kikuchi-Fujimoto Disease	Abnormality of the gastrointestinal tract, Hepatomegaly, Generalized lymphadenopathy, Skin rash, ...	ORPHA:50918
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Distal 16P11.2 Microdeletion Syndrome	Proteinuria, Chronic kidney disease, Obesity, Hyperuricemia, Vesicoureteral reflux	ORPHA:261222
Aspartylglucosaminuria	Aspartylglucosaminuria, Abnormal morphology of ulna, Joint stiffness, Malabsorption, Pectus carin...	ORPHA:93
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Familial Multinodular Goiter	Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Ovarian neoplasm, Basal cell ...	ORPHA:276399
Aicardi Syndrome	Intestinal polyposis, Block vertebrae, Missing ribs, Precocious puberty, Hiatus hernia, Malabsorp...	ORPHA:50
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Waddling gait, Cleft soft palate, Kyphoscoliosis, Patent ductus arteriosus, Atlantoax...	OMIM:614557
Shashi-Pena Syndrome	Short metacarpal, Unilateral renal agenesis, Kyphosis, Patent ductus arteriosus, Osteoporosis, De...	OMIM:617190
Atypical Progressive Supranuclear Palsy Syndrome	Freezing of gait, Unsteady gait, Falls, Kyphoscoliosis	ORPHA:99750
Diarrhea 1, Secretory Chloride, Congenital	Abdominal distention, Secretory diarrhea, Elevated stool chloride content	OMIM:214700
Cockayne Syndrome Type 2	Ataxia, Cryptorchidism, Kyphosis, Flexion contracture, Uveitis, Gait disturbance, Conjunctivitis,...	ORPHA:90322
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Overlapping toe, Single transverse palmar crease, Pectus excavatum, Prominent sternum, ...	ORPHA:254528
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity, Increased blood ur...	ORPHA:251004
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Microvesicular hepatic steatosis, ...	OMIM:618278
Incontinentia Pigmenti	Maculopapular exanthema, Supernumerary nipple, Kyphoscoliosis, Keratitis, Hemivertebrae, Uveitis,...	OMIM:308300
Combined Oxidative Phosphorylation Deficiency 53	Abdominal distention	OMIM:619423
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Arthrogry...	ORPHA:86822
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Isolated Thyroid-Stimulating Hormone Deficiency	Feeding difficulties in infancy, Depression, Macroglossia, Constipation, Macroorchidism, Lethargy	ORPHA:90674
Codas Syndrome	Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac...	OMIM:600373
Rheumatoid Arthritis	Swan neck-like deformities of the fingers, Joint stiffness, Weight loss, Joint swelling, Polyarti...	OMIM:180300
Severe Congenital Nemaline Myopathy	Hypospadias, Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin r...	ORPHA:171430
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Lethargy, Diarrhea, Episodic vomiting, Vomiting	OMIM:618321
Orotic Aciduria	Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Sacral dimple, Ataxia, Eczema, Short neck, Pectus excavatum, Kyphosis, Talipes cavus ...	OMIM:300966
Sweeney-Cox Syndrome	Asplenia, Bilateral cryptorchidism, Velopharyngeal insufficiency, Gastroesophageal reflux, High p...	OMIM:617746
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Feeding difficulties, Hepatic fibrosis, Esoph...	ORPHA:541423
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Poor appetite, Spinal rigidity, K...	ORPHA:352447
Autosomal Dominant Progressive External Ophthalmoplegia	Bipolar affective disorder, Gastroparesis, Depression, Bradykinesia, Constipation, Gastroesophage...	ORPHA:254892
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Inability to walk, Kyphosis, Unsteady gait, Elbow flexion contracture, Obesity, ...	OMIM:618493
Ulbright-Hodes Syndrome	Short neck, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Abnormal penis morphology, Sh...	ORPHA:3404
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Postaxial hand polydactyly, Male pseud...	ORPHA:2075
Heterotaxy, Visceral, 2, Autosomal	Asplenia, Abdominal situs inversus, Intestinal malrotation, Polysplenia	OMIM:605376
Severe Hemophilia A	Gastrointestinal hemorrhage, Limb joint contracture, Limitation of joint mobility, Synovitis, Joi...	ORPHA:169802
Cowden Syndrome	Abnormal penis morphology, Endometrial carcinoma, Ataxia, Pectus excavatum, Enlarged polycystic o...	ORPHA:201
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Sacral dimple, Short neck, Cryptorchidism, Kyphosis, Patent ductus arteriosus, Cleft ...	OMIM:616894
Kleefstra Syndrome 2	Kyphosis, Scoliosis	OMIM:617768
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Truncal obesity, Large for gestational age, Increased circulating free fatty acid level	ORPHA:293964
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Postaxial hand polydactyly, Patent ductus arteriosus, Hydrometrocolpos, Ap...	OMIM:617088
Hypothyroidism Due To Tsh Receptor Mutations	Feeding difficulties in infancy, Macroglossia, Constipation, Lethargy	ORPHA:90673
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Lower limb dysmetria, Sinusitis, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Abnormal tibia ...	ORPHA:363700
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Abnormal form of the vertebral bodies, Chronic otitis media, Abnormal ve...	ORPHA:280
Gist-Plus Syndrome	Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis	OMIM:175510
Methylmalonic Aciduria, Cblb Type	Feeding difficulties in infancy, Lethargy, Vomiting	OMIM:251110
Glutaric Acidemia Type 3	Lethargy	ORPHA:35706
Bardet-Biedl Syndrome 20	Bilateral cryptorchidism, Male hypogonadism, Pancreatitis	OMIM:619471
Fanconi-Bickel Syndrome	Abdominal distention, Poor appetite, Malabsorption	OMIM:227810
Mucopolysaccharidosis Type 2	Irregularity of vertebral bodies, Limitation of joint mobility, Abnormal epiphyseal ossification,...	ORPHA:580
Pancreatoblastoma	Abdominal distention, Diarrhea, Vomiting, Abdominal pain	ORPHA:677
Hemifacial Atrophy, Progressive	Kyphosis, Tongue atrophy, Ataxia	OMIM:141300
Generalized Pustular Psoriasis	Renal insufficiency, Overweight, Pustule, Obesity, Uveitis, Cheilitis, Arthritis, Palmoplantar pu...	ORPHA:247353
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Abnormality of the hand, Tapered finger, Pectus excavatum, Unilateral radia...	ORPHA:476126
Mitochondrial Trifunctional Protein Deficiency 1	Lethargy, Feeding difficulties	OMIM:609015
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv...	ORPHA:79126
Hypothyroidism, Congenital, Nongoitrous, 2	Feeding difficulties in infancy, Abdominal distention, Macroglossia, Constipation, Lethargy	OMIM:218700
Mitochondrial Trifunctional Protein Deficiency	Feeding difficulties in infancy, Lethargy, Poor suck, Chronic hepatic failure	ORPHA:746
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Gastroesophageal refl...	ORPHA:268261
Cerebrofaciothoracic Dysplasia	Short neck, Hemivertebrae, Rib fusion, Vertebral segmentation defect, Narrow chest, Scoliosis, Bi...	ORPHA:1394
Tetrasomy 9P	Joint dislocation, Myositis, Short neck, High palate, Clinodactyly of the 5th finger, Micropenis,...	ORPHA:3310
Riddle Syndrome	Ataxia, Pneumonia, Recurrent pneumonia, Weight loss, Enuresis nocturna, Arthritis, Decreased circ...	ORPHA:420741
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Kyp...	OMIM:619718
16Q24.3 Microdeletion Syndrome	Periventricular heterotopia, Kyphosis, Cryptorchidism, Feeding difficulties, Increased mean corpu...	ORPHA:261250
Hereditary Acrokeratotic Poikiloderma	Abnormality of the gastrointestinal tract, Finger syndactyly, Camptodactyly of finger, Eczema, Ab...	ORPHA:2907
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Flexion contracture, Abnormal form of the vertebral bodies, Reduced...	ORPHA:581
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Cryptorchidism, Kyphosis, Osteoporosis, Scoliosis, Male hypogonadism, Joint contracture	OMIM:615381
Renal Hypoplasia, Bilateral	Cryptorchidism, Lethargy, Feeding difficulties	ORPHA:97362
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Neutrophilia, Severe periodontitis, Protruding tongue, Keratitis, Microcytic anemia...	ORPHA:99843
X-Linked Charcot-Marie-Tooth Disease Type 5	Kyphosis, Scoliosis, Ataxia, Gait disturbance	ORPHA:99014
Adiposis Dolorosa	Recurrent skin infections, Arthritis, Xerostomia, Obesity	ORPHA:36397
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Spinal canal stenosis, Broad palm, Scoliosis, Broad phalanges of the hand, ...	OMIM:277600
Pelizaeus-Merzbacher Disease	Ataxia, Failure to thrive in infancy, Cachexia, Joint stiffness, Kyphosis, Choreoathetosis, Gait ...	ORPHA:702
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Spinal rigidity, Kyphosis, Chroni...	OMIM:615084
Osteopetrosis, Autosomal Recessive 7	Multiple rib fractures, Femur fracture, Decreased circulating total IgM, Decreased circulating Ig...	OMIM:612301
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Protuberant abdomen	OMIM:617102
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Inability to walk, Kyphosis, Gait ataxia, Pectus carinatum, Dysphagia	ORPHA:500180
Mucopolysaccharidosis, Type Iiia	Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis	OMIM:252900
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Abdominal distention, Peritonitis, Microcolon, Ileal atresia	OMIM:619351
Split Cord Malformation	Back pain, Abnormal thoracic spine morphology, Neurogenic bladder, Low back pain, Hypospadias, Ur...	ORPHA:573278
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Abnormality of the ut...	ORPHA:857
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Kyphosis, Flexion contracture, Ankle clonus, Scoliosis	OMIM:609541
Pallister-Hall Syndrome	Small scrotum, Ectopic kidney, Large for gestational age, Gonadotropin deficiency, Hemivertebrae,...	ORPHA:672
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Tapered finger, Precocious puberty, Hyperlordosis, Limited elbow extension, Hip dislocation, Obes...	OMIM:301066
Rheumatic Fever	Pericarditis, Sinusitis, Myocarditis, Endocarditis, Nephrotic syndrome, Arthritis, Gait disturbance	ORPHA:3099
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Viral hepatitis, Renal insufficiency, Proteinuria, Hematuria, Arthri...	ORPHA:91138
Myotubular Myopathy With Abnormal Genital Development	Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism, Glandular hyposp...	OMIM:300219
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Renal insufficiency, Pyloric sten...	ORPHA:93111
Absent Radius-Anogenital Anomalies Syndrome	Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula	ORPHA:3016
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycyst...	OMIM:151660
Hereditary Xanthinuria	Crystalluria, Arthropathy, Xanthine nephrolithiasis, Xanthinuria, Gout, Hydronephrosis, Hematuria...	ORPHA:3467
Nestor-Guillermo Progeria Syndrome	Wide cranial sutures, Limited elbow movement, Joint stiffness, Delayed closure of the anterior fo...	OMIM:614008
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Joint stiffness, Hepar...	OMIM:252940
Malakoplakia	Abdominal pain, Abnormality of the menstrual cycle, Orchitis, Diarrhea, Neoplasm of the rectum, P...	ORPHA:556
Dextrocardia	Congenital hip dislocation, Intestinal malrotation, Abnormal reproductive system morphology, Abno...	ORPHA:1666
Lesch-Nyhan Syndrome	Hematuria, Renal insufficiency, Gout	ORPHA:510
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Pectus excavatum, Kyphosis, Asymmetry of the thorax, Scoliosis, Genu varum	ORPHA:1969
Bardet-Biedl Syndrome 6	Hypospadias, Obesity, Renal cyst	OMIM:605231
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Intestinal malrotation, Abnormal cortical gyration, Hiatus hernia, Abnormality of t...	ORPHA:2538
Localized Scleroderma	Fasciitis, Flexion contracture, Uveitis, Upper limb asymmetry, Arthritis, Gastroesophageal reflux...	ORPHA:90289
Camptodactyly Syndrome, Guadalajara Type 3	Short neck, Abnormal rib morphology, Small hand, Short foot, Spina bifida occulta, Thickened cort...	ORPHA:488434
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Increased body weight	OMIM:614450
Proteus-Like Syndrome	Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Heman...	ORPHA:2969
Intellectual Developmental Disorder, Autosomal Dominant 57	Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, ...	OMIM:618050
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis, Postaxial polydactyly, Knee flexion contracture	OMIM:603387
Semilobar Holoprosencephaly	Cleft palate, Feeding difficulties, Depression, Gastroesophageal reflux, High palate, Vomiting, D...	ORPHA:220386
Alobar Holoprosencephaly	Cleft palate, Feeding difficulties, Depression, Gastroesophageal reflux, High palate, Vomiting, D...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Cleft palate, Feeding difficulties, Depression, Gastroesophageal reflux, High palate, Vomiting, D...	ORPHA:93926
Lobar Holoprosencephaly	Cleft palate, Feeding difficulties, Depression, Gastroesophageal reflux, High palate, Vomiting, D...	ORPHA:93924
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Acute hepatic failure, Paralytic ileus, Melena, Hepatocellular carci...	OMIM:276700
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Reye syndrome-like episodes, Abdominal distention, Diarrhea, Vomiting, Hep...	OMIM:256810
Alpha-Mannosidosis, Infantile Form	Osteopenia, Thickened ribs, Short neck, Pectus carinatum, Oligosacchariduria, Cortical thickening...	ORPHA:309282
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Urinary incontinence, Large for gestational age, Cryptor...	ORPHA:169189
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Proximal phalangeal periosteal thickening, Gastric hypertrophy, Clubbing, Osteolytic defects of t...	OMIM:161700
Coffin-Siris Syndrome 1	Single transverse palmar crease, Ectopic kidney, Prominent interphalangeal joints, Gait ataxia, H...	OMIM:135900
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Protein avoidance, Lethargy, Vomiting, Abdominal pain	OMIM:311250
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Anteriorly placed anus, High palate, Spina bifida oc...	OMIM:218600
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Ataxia, Gout, Hyperuricosuria, Arthritis, Uric acid nephrolith...	ORPHA:411543
Pontine Tegmental Cap Dysplasia	Ataxia, Rib fusion, Hemivertebrae, Dysmetria, Ankle clonus, Scoliosis, Dysphagia, Failure to thrive	OMIM:614688
Spastic Paraplegia 84, Autosomal Recessive	Crohn's disease	OMIM:619621
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Scoliosis, Prominent...	OMIM:619557
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral density, Incre...	OMIM:166220
Feingold Syndrome 1	Accessory spleen, Jejunal atresia, Asplenia, Esophageal atresia, Gastrointestinal atresia, Trache...	OMIM:164280
Familial Hypocalciuric Hypercalcemia	Nausea and vomiting, Peptic ulcer, Episodic abdominal pain, Lipoma, Pancreatitis	ORPHA:405
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Short neck, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irreg...	OMIM:610442
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst	OMIM:617478
Cat Eye Syndrome	Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Volvulus, Me...	OMIM:115470
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Short neck, Metaphyseal widening, Irregular vertebral endplates, Metaphyseal chondromatosis of ra...	ORPHA:99646
Lyme Disease	Arthritis, Infectious encephalitis, Joint swelling, Uveitis	ORPHA:91546
Microphthalmia, Syndromic 3	Vertebral fusion, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Miss...	OMIM:206900
Hurler-Scheie Syndrome	Splenomegaly, Kyphosis, Scoliosis, Hepatomegaly	OMIM:607015
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Lethargy, Feeding difficulties	OMIM:201470
Methylmalonic Aciduria, Cbla Type	Feeding difficulties in infancy, Lethargy, Vomiting	OMIM:251100
Frontometaphyseal Dysplasia 2	Feeding difficulties in infancy, Pyloric stenosis, Cryptorchidism, Cleft palate, Ulcerative colit...	OMIM:617137
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Increased body weight	ORPHA:589905
Citrullinemia, Classic	Protein avoidance, Lethargy, Vomiting	OMIM:215700
Relapsing Polychondritis	Episcleritis, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna, Keratitis, Myo...	ORPHA:728
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Small for gestational age, Ataxia, Cryptorchidism, Urolithiasis...	OMIM:300661
Giant Cell Arteritis	Renal insufficiency, Pericarditis, Ataxia, Joint stiffness, Weight loss, Hematuria, Arthritis, Ga...	ORPHA:397
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Mesomelia-Synostoses Syndrome	Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow...	OMIM:600383
Peroxisome Biogenesis Disorder 5A (Zellweger)	Feeding difficulties in infancy, Cryptorchidism, Cleft palate, High palate, Hypoplastic nipples, ...	OMIM:614866
Fetal Akinesia Deformation Sequence 1	Hip contracture, Ulnar deviation of the hand, Small for gestational age, Rocker bottom foot, Camp...	OMIM:208150
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Ankle swelling, Orchitis, Lymphadenitis, Epididymitis, Knee oste...	ORPHA:2035
Diaphanospondylodysostosis	Protuberant abdomen, Nephroblastomatosis, Cleft palate	OMIM:608022
Micro Syndrome	Hypoplasia of penis, Joint stiffness, Cryptorchidism, Hypoplastic labia minora, Kyphosis, Clitora...	ORPHA:2510
Weill-Marchesani Syndrome 2	Short metacarpal, Lumbar hyperlordosis, Thin bony cortex, Joint stiffness, Patent ductus arterios...	OMIM:608328
X-Linked Acrogigantism	Abdominal distention, Pituitary adenoma, Hypogonadism	ORPHA:300373
Trichinellosis	Lethargy, Apathy, Nausea, Dysphagia	ORPHA:863
Dubin-Johnson Syndrome	Hepatomegaly, Abdominal pain, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnorma...	ORPHA:234
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Craniosynostosis, Pect...	OMIM:616914
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint laxity, Lumbar hyperlordosis, Progressive flexion contractures, Ataxia, Equinus calcaneus, ...	ORPHA:522077
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Abdominal distention, Hepatic failure, Lethargy	OMIM:617156
Carney Complex	Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Neoplasm of the breast, Pap...	ORPHA:1359
Lowe Oculocerebrorenal Syndrome	Wrist swelling, Bicarbonaturia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight prote...	OMIM:309000
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Kyphos...	ORPHA:2062
Classic Homocystinuria	Gastrointestinal hemorrhage, Arachnodactyly, Recurrent fractures, Joint stiffness, Pectus excavat...	ORPHA:394
Kawasaki Disease	Nausea and vomiting, Pericarditis, Skin rash, Abdominal pain, Myocarditis, Cervical lymphadenopat...	ORPHA:2331
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia, Obesity	OMIM:617885
Cystic Fibrosis, Modifier Of, 1	Meconium ileus	OMIM:603855
Glycogen Storage Disease Vii	Hematuria, Cholelithiasis, Gout, Exercise-induced myoglobinuria	OMIM:232800
Cardiospondylocarpofacial Syndrome	Joint laxity, Tarsal synostosis, Rib fusion, Vesicoureteral reflux, Horseshoe kidney, Short foot,...	OMIM:157800
Leukocyte Adhesion Deficiency, Type I	Osteomyelitis, Leukocytosis, Chronic diarrhea, Chronic mucocutaneous candidiasis, Rectal abscess,...	OMIM:116920
3Q27.3 Microdeletion Syndrome	Arachnodactyly, Kyphoscoliosis	ORPHA:397695
Schimke Immunoosseous Dysplasia	Bilateral cryptorchidism, Coarse hair, Protuberant abdomen, Fine hair	OMIM:242900
Metachromatic Leukodystrophy, Late Infantile Form	Feeding difficulties in infancy, Abdominal distention	ORPHA:309256
Carnitine-Acylcarnitine Translocase Deficiency	Lethargy, Hepatic failure	ORPHA:159
Mucolipidosis Type Ii	Hip contracture, Prominent metopic ridge, Craniosynostosis, Limited wrist movement, Inability to ...	ORPHA:576
Immunoglobulin A Vasculitis	Gastrointestinal hemorrhage, Episcleritis, Renal insufficiency, Proteinuria, Skin rash, Orchitis,...	ORPHA:761
Zttk Syndrome	Absent gallbladder, Polyuria, Unilateral renal agenesis, Craniosynostosis, Kyphosis, Patent ductu...	OMIM:617140
Mowat-Wilson Syndrome	Bifid scrotum, Urinary incontinence, Cleft hard palate, Gastrointestinal dysmotility, Calcaneoval...	ORPHA:2152
Pseudo-Torch Syndrome 2	Lethargy	OMIM:617397
Rett Syndrome	Cachexia, Kyphosis, Gait apraxia, Gait ataxia, Short foot, Gastroesophageal reflux, Scoliosis, Tr...	OMIM:312750
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Pituitary adenoma, Osteoporosis, Nephrolithiasis, Obesity, Abdominal obesity, Oligomeno...	OMIM:219090
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Anorexia	ORPHA:1302
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Tongue atrophy, Ataxia, Kyphosis, Dysphagia, Ankle clonus, Gait imbalance, S...	OMIM:211530
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Micropenis, Increased body weight, Horseshoe kidney	OMIM:300860
Wrinkly Skin Syndrome	Osteopenia, Scapular winging, Congenital hip dislocation, Delayed cranial suture closure, Delayed...	OMIM:278250
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Elevated urinary catecholamine lev...	OMIM:115310
Autosomal Recessive Spastic Paraplegia Type 9B	Kyphoscoliosis, Pollakisuria, Tip-toe gait, Urinary retention, Spastic gait	ORPHA:447760
Encephalitis Lethargica	Lethargy, Bowel incontinence	ORPHA:83600
Idiopathic Juvenile Osteoporosis	Recurrent fractures, Kyphosis, Osteoporosis, Gait disturbance, Vertebral compression fracture	ORPHA:85193
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Recurrent skin infections, Glomerulonephritis, Anal fissure, Malnutrition, Gastrointestinal infla...	ORPHA:79408
Behcet Syndrome	Genital ulcers, Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Iritis, Decreased level...	OMIM:109650
Smith-Lemli-Opitz Syndrome	Aganglionic megacolon, Intestinal malrotation, Facial capillary hemangioma, Pyloric stenosis, Gas...	OMIM:270400
Wiedemann-Rautenstrauch Syndrome	Pneumonia, Short neck, Cryptorchidism, Feeding difficulties, Increased serum testosterone level, ...	OMIM:264090
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Protein avoidance, Feeding difficulties, Decreased liver function, Lethargy, Hepatic failure, Epi...	ORPHA:415
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Urinary incontinence, Cleft hard palate, Calcaneovalgus deformity, Flexion contrac...	ORPHA:261537
Meckel Syndrome 14	Abdominal distention, Protuberant abdomen	OMIM:619879
Nephronophthisis-Like Nephropathy 1	Pancreatic cysts, Chronic pancreatitis	OMIM:613159
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Abdominal obesity, Increased body weight	OMIM:615954
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ...	OMIM:618620
Vitamin D-Dependent Rickets, Type 2A	Alopecia universalis, Protuberant abdomen	OMIM:277440
Acute Transverse Myelitis	Gastroparesis, Paralytic ileus, Constipation, Abnormal libido, Priapism	ORPHA:139417
Thyroid Ectopia	Macroglossia, Constipation, Abdominal distention	ORPHA:95712
Monosomy 9P	Hypospadias, Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Cryptorchi...	ORPHA:261112
Myasthenic Syndrome, Congenital, 21, Presynaptic	Meconium ileus, Feeding difficulties	OMIM:617239
Charge Syndrome	Bifid scrotum, Abnormal tibia morphology, Hemivertebrae, Gastroesophageal reflux, Abnormality of ...	ORPHA:138
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Rocker bottom foot, Single transverse palmar crease, Lon...	ORPHA:521426
Neurofibroma	Kyphoscoliosis, Spinal canal stenosis, Enlargement of parotid gland, Multiple intestinal neurofib...	ORPHA:252183
Yunis-Varon Syndrome	Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Single transverse palmar cr...	OMIM:216340
Herpes Simplex Virus Encephalitis	Nausea and vomiting, Leukocytosis, Neutrophilia	ORPHA:1930
Mucopolysaccharidosis, Type Iiib	Thickened ribs, Ovoid thoracolumbar vertebrae	OMIM:252920
Chronic Thromboembolic Pulmonary Hypertension	Neoplasm, Inflammation of the large intestine, Osteomyelitis, Myeloproliferative disorder	ORPHA:70591
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Camptodactyly of finger, Eczema, Erythema nodosum, Synovi...	OMIM:186580
Chikungunya	Maculopapular exanthema, Skin rash, Joint stiffness, Erythema nodosum, Pruritus, Periostitis, Cru...	ORPHA:324625
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Arthritis, Dysphagia	ORPHA:397744
Autosomal Recessive Ataxia, Beauce Type	Ataxia, Urinary incontinence, Kyphosis, Dysmetria, Ankle clonus, Gait disturbance, Scoliosis	ORPHA:88644
Isolated Complex I Deficiency	Lethargy, Vomiting, Feeding difficulties	ORPHA:2609
Aicardi Syndrome	Block vertebrae, Proximal placement of thumb, Missing ribs, Precocious puberty, Hiatus hernia, Re...	OMIM:304050
Zimmermann-Laband Syndrome 2	Macroglossia, Kyphosis, Short neck	OMIM:616455
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Adrenal hyperplasia, Kyphosis, Osteoporosis, Truncal obesity, Macronodular adrenal hy...	OMIM:219080
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Pterygium, Rocker bottom foot, Micromelia, Bifid uterus, Short...	OMIM:256520
Proteus Syndrome	Abnormal finger morphology, Renal cyst, Abnormal form of the vertebral bodies, Clinodactyly of th...	ORPHA:744
Mucopolysaccharidosis-Plus Syndrome	Proteinuria, Congestive heart failure, Patent ductus arteriosus, Recurrent pneumonia, Nephrotic s...	OMIM:617303
Carnitine-Acylcarnitine Translocase Deficiency	Lethargy	OMIM:212138
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Osteoarthritis	OMIM:619714
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Asplenia, High palate, Intestinal malrotation	OMIM:619657
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Knee flexion contractur...	ORPHA:3103
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Abnormal circulating C-peptide co...	ORPHA:552
Cogan Syndrome	Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam...	ORPHA:1467
Charge Syndrome	Decreased response to growth hormone stimulation test, External genital hypoplasia, Abnormal palm...	OMIM:214800
Gaucher Disease, Type Ii	Feeding difficulties, Gastroesophageal reflux, Protuberant abdomen, Dysphagia	OMIM:230900
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Pruritus, Limitation of joint mob...	ORPHA:93672
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Feeding difficulties in infancy, Lethargy	ORPHA:395
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Long fingers, Kyphosi...	OMIM:617527
Craniorachischisis	Bifid sternum, Sirenomelia	ORPHA:63260
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob...	ORPHA:99889
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Cranioectodermal Dysplasia 2	Cholangitis, Short neck, Renal cyst, High palate, Narrow chest, Joint laxity, Syndactyly, Rhizome...	OMIM:613610
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Lethargy, Episodic vomiting	OMIM:615751
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Fructose-1,6-Bisphosphatase Deficiency	Lethargy	OMIM:229700
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Prominent metopic ridge, Tapered finger, Long fingers, Calcaneovalgus deformity, Nephrolithiasis,...	ORPHA:521445
Alström Syndrome	Thoracic scoliosis, Decreased response to growth hormone stimulation test, Elevated circulating t...	ORPHA:64
Metachromatic Leukodystrophy, Juvenile Form	Abdominal distention	ORPHA:309263
Resistance To Thyrotropin-Releasing Hormone Syndrome	Lethargy, Depression	ORPHA:99832
Alexander Disease	Osteopenia, Ataxia, Short neck, Precocious puberty, Hyperlordosis, Kyphosis, Gait disturbance, Hi...	ORPHA:58
Cardiogenic Shock	Elevated circulating creatinine concentration, Oliguria	ORPHA:97292
15Q14 Microdeletion Syndrome	Kyphosis, Scoliosis, Acne, Cleft palate	ORPHA:261190
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis, Osteochondrosis	ORPHA:2396
Subcorneal Pustular Dermatosis	Pustule, Increased circulating antibody level, Rheumatoid arthritis, Pruritus	ORPHA:48377
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Abnormal cortical gyration, Megaloblastic anemia, Feeding difficulties, Gastroesophageal reflux, ...	ORPHA:79351
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Tapered toe, Tapered finger, Bilateral cryptorchidism, Large for gestational age, ...	ORPHA:544488
Fanconi Anemia, Complementation Group U	Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap...	OMIM:617247
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Increased body weight	OMIM:182290
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Abdominal pain, Malnutrition, Vomiting, Lethargy, Nausea	OMIM:229600
Keutel Syndrome	Recurrent otitis media, Recurrent sinusitis, Calcification of cartilage, Short distal phalanx of ...	ORPHA:85202
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Chronic pancreatitis, Cryptorchidism, Adrenal insufficiency, Episodic ...	OMIM:307030
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Uric acid nep...	ORPHA:411536
Marfan Syndrome	Osteopenia, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Cachexia, Limited elbow mo...	ORPHA:558
Progeroid Short Stature With Pigmented Nevi	Thoracic scoliosis, Diabetes mellitus, Allergic rhinitis, Impaired T cell function, Allergic conj...	OMIM:176690
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Pectus excavatum, Kyphosis, Clinodactyly, Radial deviation of finger	OMIM:609944
Lymphatic Malformation 7	Abdominal distention	OMIM:617300
Ring Chromosome 7 Syndrome	Hypospadias, Single transverse palmar crease, Prominent crus of helix, Small hand, Cleft palate, ...	ORPHA:1449
Right Atrial Isomerism	Asplenia, Abdominal situs ambiguus, Polysplenia	OMIM:208530
Plasminogen Deficiency, Type I	Conjunctivitis, Nephritis, Nephrolithiasis, Periodontitis	OMIM:217090
Listeriosis	Back pain, Unusual skin infection, Pericarditis, Stiff neck, Osteomyelitis, Ataxia, Pneumonia, Pu...	ORPHA:533
Chronic Graft Versus Host Disease	Fasciitis, Phimosis, Urinary bladder inflammation, Esophageal stricture, Flexion contracture, Xer...	ORPHA:99921
Pyomyositis	Leukocytosis, Recurrent cutaneous abscess formation, Myositis, Testicular teratoma	ORPHA:764
Esophageal Atresia	Barrett esophagus, Intestinal malrotation, Maternal diabetes, Feeding difficulties in infancy, Py...	ORPHA:1199
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Nephropathy, Renal insufficiency, Hypospadias, Obesity	OMIM:194072
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Single transverse palmar crease, Postaxial polydactyly, Limited e...	ORPHA:221120
Glycine Encephalopathy	Lethargy, Poor suck	ORPHA:407
Mend Syndrome	Sacral dimple, Overlapping toe, Broad hallux, Long fingers, Cryptorchidism, Kyphosis, Wide anteri...	ORPHA:401973
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Urinary incontinence, Cleft hard palate, Calcaneovalgus deformity, Flexion contrac...	ORPHA:261552
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Gout, Polycystic kidney dysplasia, Decreased...	OMIM:618061
Foxg1 Syndrome Due To 14Q12 Microdeletion	Prominent metopic ridge, Kyphosis, Macroglossia, Gastroesophageal reflux, Scoliosis	ORPHA:261144
Neu-Laxova Syndrome 2	Protuberant abdomen, High palate, Cleft palate	OMIM:616038
Urachal Cyst	Abscess, Abdominal pain, Leukocytosis, Peritonitis, Neoplasm	ORPHA:488
Primrose Syndrome	Bilateral cryptorchidism, Flexion contracture, Knee flexion contracture, Reduced bone mineral den...	OMIM:259050
Fusariosis	Fasciitis, Sinusitis, Osteomyelitis, Myositis, Maculopapular exanthema, Pneumonia, Keratitis, Per...	ORPHA:228119
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Single transverse palmar crease, Ovotestis, Cryptorchidism, ...	ORPHA:199310
Neutral Lipid Storage Myopathy	Hepatomegaly, Diabetes mellitus, Chronic pancreatitis, Pineal cyst, Cholecystitis, Hepatic steatosis	ORPHA:98908
Ramon Syndrome	Enlarged labia minora, Kyphosis, Narrow palate, Scoliosis, Decreased body weight, Juvenile rheuma...	OMIM:266270
Scorpion Envenomation	Acute pancreatitis, Abdominal pain, Myocarditis, Diarrhea, Hyperhidrosis, Vomiting	ORPHA:466677
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Decreased circulating free fatty acid level, Ketonuria, Large for gestational age, Increased C-pe...	ORPHA:79644
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Lethargy	OMIM:277410
Immunodeficiency 68	Septic arthritis, Lymphadenitis, Recurrent skin infections	OMIM:612260
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Feeding difficulties in infancy, Thymus hyperplasia	OMIM:619036
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Feeding difficulties in infancy, Lethargy	OMIM:277400
Microphthalmia With Linear Skin Defects Syndrome	Abnormal eyelash morphology, Feeding difficulties, Abnormal rectum morphology, Abnormal testis mo...	ORPHA:2556
Aspartylglucosaminuria	Hepatomegaly, Acne, Kyphosis, Diarrhea, Vacuolated lymphocytes, Macroglossia, Platyspondyly, Spon...	OMIM:208400
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Stomatitis, Lethargy, Glossitis, Feeding difficulties	ORPHA:79282
Kufor-Rakeb Syndrome	Bowel incontinence, Bradykinesia, Apathy, Dysphagia, Lethargy	ORPHA:306674
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Intestinal malrotation, Asplenia, Esophageal atresia, Pulmonary lymphangiectasia, Tracheoesophage...	OMIM:265380
Cockayne Syndrome A	Hip contracture, Renal insufficiency, Proteinuria, Ataxia, Cryptorchidism, Kyphosis, Limitation o...	OMIM:216400
Mend Syndrome	Sacral dimple, Overlapping toe, Broad hallux, Long fingers, Cryptorchidism, Kyphosis, 2-3 toe syn...	OMIM:300960
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Small for gestational age, Increased body weight	OMIM:274300
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Decreased hemoglobin concentration, Kyphosis, Cryptorchidism, Chronic diarrhea, Chr...	OMIM:619005
Parenteral Nutrition-Associated Cholestasis	Villous atrophy, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration, Hy...	ORPHA:567983
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Absence of the sacrum, Block vertebrae, Asplenia, Posteriorly placed anus, Biliary ...	OMIM:306955
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Hypogonadotropic hypogonadism, Feeding difficulties in infancy, Macroglossia, Constipation, Lethargy	ORPHA:226307
Japanese Encephalitis	Neutrophilia, Anorexia, Abdominal pain, Diarrhea, Increased circulating IgM level, Vomiting, Incr...	ORPHA:79139
Congenital Analbuminemia	Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy...	ORPHA:86816
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Coat hanger sign of ribs, Thoracic hypoplasia	ORPHA:254534
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Increased intervertebral space, Broad ischia, Diaphyseal dysplasia, Platys...	OMIM:619727
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Thin ribs	OMIM:614833
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thyroid hypoplasia, Thoracic scoliosis, Absent nipple, Aplasia of the thymus, Congenital hypothyr...	OMIM:620186
Meckel Syndrome, Type 1	Accessory spleen, Intestinal malrotation, Malformation of the hepatic ductal plate, Short neck, A...	OMIM:249000
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Camptodactyly of finger, Heparan sulfate excretion in urine, Flexion contracture,...	ORPHA:217085
Complete Atrioventricular Septal Defect	Lethargy, Feeding difficulties	ORPHA:1329
Myasthenic Syndrome, Congenital, 20, Presynaptic	Kyphosis, Feeding difficulties, Scoliosis, Dysphagia, Poor suck	OMIM:617143
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Uveitis, Conjunctivitis, Abnormal vertebral morphology, Cryptorchidism, Scleritis, Abnormality of...	ORPHA:2273
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Chilblains, Arthritis, Panniculitis, Scoliosis, Difficulty...	ORPHA:51
Cerebrocostomandibular Syndrome	Bell-shaped thorax, Kyphosis, Clinodactyly of the 5th finger, Posterior rib gap	ORPHA:1393
Neurodegeneration And Seizures Due To Copper Transport Defect	Lethargy	OMIM:620306
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Gastroesophageal reflux, Esophagitis, Feeding difficulties	ORPHA:79350
Hereditary Hyperekplexia	Gastroesophageal reflux, Esophagitis, Hiatus hernia	ORPHA:3197
Branchioskeletogenital Syndrome	Amelia involving the lower limbs, Abnormality of the cervical spine, Abnormality of the vertebral...	ORPHA:1299
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Camptodactyly of finger, Heparan sulfate excretion in urine, Flexion contracture,...	ORPHA:217093
Meckel Syndrome	Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Asplenia, Congenital hep...	ORPHA:564
Atelis Syndrome 2	Sacral dimple, Kyphosis, Thrombocytopenia, Elevated circulating thyroid-stimulating hormone conce...	OMIM:620185
Blau Syndrome	Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Retrobulbar optic neuritis, Erythema...	ORPHA:90340
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Neuropathic arthropathy, Chronic kidney disease, Painless fractures due...	ORPHA:642
Unilateral Polymicrogyria	Pseudobulbar paralysis, Abnormal posturing, Nasogastric tube feeding	ORPHA:268943
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Osteopenia, Kyphosis, Osteoporosis, Secondary amenorrhea, Trunc...	OMIM:610489
Biotinidase Deficiency	Lethargy, Alopecia	ORPHA:79241
Mitochondrial Complex I Deficiency, Nuclear Type 1	Feeding difficulties in infancy, Lethargy, Hepatic failure, Vomiting	OMIM:252010
Orofaciodigital Syndrome Type 4	Decreased testicular size, Monorchism, High, narrow palate, Submucous cleft hard palate, Rectal a...	ORPHA:2753
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Tricuspid stenosis, Patent ductu...	ORPHA:391641
Lipodystrophy, Familial Partial, Type 7	Diarrhea, Feeding difficulties, Recurrent pancreatitis, Vomiting, Dysphagia, Type I diabetes mell...	OMIM:606721
Histiocytoid Cardiomyopathy	Lethargy, Vomiting, Cleft palate	ORPHA:137675
Catastrophic Antiphospholipid Syndrome	Myocarditis, Arthritis, Gastrointestinal infarctions	ORPHA:464343
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Decreased response to growth hormone stimulation test, Poor appetite, Feeding difficulties in inf...	ORPHA:96182
Restrictive Dermopathy	Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Ureteral duplication, H...	ORPHA:1662
Fabry Disease	Renal insufficiency, Proteinuria, Malabsorption, Abnormal femur morphology, Reduced bone mineral ...	ORPHA:324
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Sandal gap, Proteinuria, Delayed cranial suture closure, Decreased fibular diameter, ...	OMIM:619127
Cockayne Syndrome B	Renal insufficiency, Proteinuria, Small for gestational age, Ataxia, Cryptorchidism, Kyphosis, Li...	OMIM:133540
Chromosome 1P36 Deletion Syndrome, Distal	Ectopic kidney, High palate, Gastroesophageal reflux, Clinodactyly of the 5th finger, Bifid uvula...	OMIM:607872
Tracheobronchopathia Osteochondroplastica	Esophagitis, Recurrent pneumonia, Pneumonia, Calcification of cartilage	ORPHA:3348
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal pelvic girdle bone morphology, Carpal bone hypoplasia	OMIM:601162
Amoebiasis Due To Free-Living Amoebae	Lethargy, Vomiting, Nausea	ORPHA:68
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Feeding difficulties, Hypertrichosis, Protuberant abdomen, Tube feeding	OMIM:619479
Pineoblastoma	Retinoblastoma, Lethargy, Pinealoma	ORPHA:251909
Pontocerebellar Hypoplasia, Type 17	Kyphosis, Gastroesophageal reflux, Dysphagia	OMIM:619909
Simpson-Golabi-Behmel Syndrome, Type 1	Pectus carinatum, Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, Short ...	OMIM:312870
Heterotaxy, Visceral, 5, Autosomal	Absence of the sacrum, Intestinal malrotation, Asplenia, Abdominal situs inversus, Abdominal situ...	OMIM:270100
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Hyperhidrosis, In...	OMIM:300942
Fucosidosis	Hepatomegaly, Kyphosis, Abnormality of the gallbladder, Hyperhidrosis, Anterior beaking of lumbar...	ORPHA:349
Arboleda-Tham Syndrome	Intestinal malrotation, Highly arched eyebrow, Bilateral cryptorchidism, Cleft palate, Feeding di...	OMIM:616268
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Reduced...	ORPHA:667
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Back pain, Single transverse palmar crease, High, narrow palate, Abnormal curvatur...	OMIM:619475
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,...	ORPHA:411629
Mowat-Wilson Syndrome	Aganglionic megacolon, Supernumerary nipple, Pyloric stenosis, Abdominal distention, Submucous cl...	OMIM:235730
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Abnormality of T cell physiology, Psoriasiform dermatitis, Diabetes mellitus,...	ORPHA:2237
Luscan-Lumish Syndrome	Advanced ossification of carpal bones	OMIM:616831
Dermatomyositis	Pericarditis, Abnormal eosinophil morphology, Gastrointestinal stroma tumor, Myocarditis, Feeding...	ORPHA:221
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Joint laxity, Arachnodactyly, Large for gestational age, Hyperlordosis, Kyphosis, Gait ataxia, La...	OMIM:617011
Neurofibromatosis Type 1	Ataxia, Recurrent fractures, Joint stiffness, Precocious puberty, Cryptorchidism, Kyphosis, Genu ...	ORPHA:636
Atelosteogenesis, Type I	Cryptorchidism, Protuberant abdomen, Cleft palate	OMIM:108720
Dermatosparaxis Ehlers-Danlos Syndrome	Scoliosis, Gastroesophageal reflux, Esophagitis, Hiatus hernia	ORPHA:1901
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia, Obesity	OMIM:615989
Lethal Congenital Contracture Syndrome 5	Thin ribs	OMIM:615368
Adrenocortical Carcinoma	Increased urinary cortisol level, Increased body weight, Weight loss, Hypokalemia, Abnormality of...	ORPHA:1501
Cockayne Syndrome	Urinary incontinence, Congenital contracture, Progressive gait ataxia, Gastroesophageal reflux, A...	ORPHA:191
Tetraamelia Syndrome 1	Asplenia, Anal atresia, Adrenal gland agenesis, Cleft palate	OMIM:273395
Basilar Impression, Primary	Kyphoscoliosis, Short neck	OMIM:109500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Hepatomegaly, Hyperlordosis, Feeding difficulties, Esophagitis, Scoliosis, Achalasia, Hepatic ste...	OMIM:615356
Paroxysmal Nocturnal Hemoglobinuria	Esophageal spasms, Odynophagia, Episodic abdominal pain, Impotence, Dysphagia, Lethargy	ORPHA:447
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Cryptorchidism, High palate, Kyphosis	OMIM:619244
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Small intestinal dysmotility, Kyphosis, Feeding difficulties, Chronic constipation, Gastroesophag...	OMIM:619482
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Obesity, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, In...	ORPHA:90041
Postencephalitic Parkinsonism	Kyphosis, Camptocormia, Vomiting, Dysphagia	ORPHA:97349
Rett Syndrome, Congenital Variant	Kyphosis, Simplified gyral pattern, Feeding difficulties, Constipation, Gastroesophageal reflux, ...	OMIM:613454
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Brain neoplasm, Elevated circulating parathyroid hormone level, Pheoch...	ORPHA:97685
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Hyperlipidemia, Increased body weight, Nephrolithiasis, Abdomin...	ORPHA:189427
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased body weight, ...	ORPHA:264580
Pitt-Hopkins Syndrome	Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Short neck, Cryptorchidism, Hodgkin l...	ORPHA:2896
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased body weight, ...	ORPHA:79240
Truncus Arteriosus	Adrenocortical abnormality, Hypoplasia of the thymus	ORPHA:3384
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Anal stenosis, Feeding difficulties in infancy, Synophrys, Hydrocele testis, High palate, Gastroe...	ORPHA:280633
Exercise-Induced Malignant Hyperthermia	Vomiting, Decreased liver function, Lethargy, Hepatic failure, Nausea	ORPHA:466650
Pagod Syndrome	Abnormal clavicle morphology, Multicystic kidney dysplasia, Abnormal rib morphology, Agonadism, A...	ORPHA:991
Sotos Syndrome	Ureteral duplication, Flexion contracture, Gastroesophageal reflux, Vesicoureteral reflux, Chroni...	ORPHA:821
Velocardiofacial Syndrome	Hypoparathyroidism, Impaired T cell function, Cryptorchidism, Velopharyngeal insufficiency, Submu...	OMIM:192430
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Abnormal sternum morphology, Scoliosis	OMIM:177850
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Proteasome-Associated Autoinflammatory Syndrome 1	Sparse axillary hair, Irregular menstruation, Premature graying of hair, Macroglossia, Chronic co...	OMIM:256040
Sitosterolemia 1	Arthritis, Impaired platelet aggregation	OMIM:210250
Cockayne Syndrome Type 3	Hepatomegaly, Splenomegaly, Kyphosis, Feeding difficulties, Keratoconjunctivitis sicca, Gastroeso...	ORPHA:90324
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Esophageal atresia, Abdominal distention, Cryptorchidism, Ectopic anus, Bifid tongue, Anal atresia	ORPHA:93271
Blomstrand Lethal Chondrodysplasia	Protuberant abdomen, Protruding tongue	ORPHA:50945
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Renal insufficiency, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulati...	OMIM:619534
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Systemic Lupus Erythematosus	Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Cheilitis, Hematuria, Arthritis, Malar ...	ORPHA:536
Alagille Syndrome 1	Hypoplasia of the ulna, Multiple small medullary renal cysts, Abnormal rib morphology, Renal hypo...	OMIM:118450
Osteopetrosis With Renal Tubular Acidosis	Recurrent fractures, Pectus excavatum, Proximal renal tubular acidosis, Nephrolithiasis, Renal tu...	ORPHA:2785
Autosomal Recessive Spastic Paraplegia Type 35	Urinary incontinence, Kyphosis, Dysmetria, Enuresis nocturna, Ankle clonus, Pollakisuria, Dysdiad...	ORPHA:171629
Alpha-Fetoprotein Deficiency	Decreased circulating alpha-fetoprotein concentration	OMIM:615969
Joubert Syndrome 39	Overweight, Polycystic kidney dysplasia	OMIM:619562
Hypoplasminogenemia	Cervicitis, Duodenal ulcer, Nephrolithiasis, Periodontitis, Abnormal fallopian tube morphology, A...	ORPHA:722
Sotos Syndrome	Overgrowth, Increased body weight, Tall stature	OMIM:117550
Atresia Of Urethra	Abdominal distention	ORPHA:105
Branchiooculofacial Syndrome	Hypospadias, Single transverse palmar crease, Proximal placement of thumb, Supernumerary nipple, ...	OMIM:113620
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased body weight	OMIM:615830
Eisenmenger Syndrome	Abdominal distention, Lethargy	ORPHA:97214
Hydranencephaly	Lethargy	ORPHA:2177
Sacral Defect With Anterior Meningocele	Constipation, Sacral lipoma, Rectal abscess	OMIM:600145
Shprintzen Omphalocele Syndrome	Lumbar hyperlordosis, Kyphosis, Narrow chest, Scoliosis, Decreased body weight, Anal atresia	OMIM:182210
Hellp Syndrome	Hemoglobinuria, Acute kidney injury, Proteinuria, Increased body weight	ORPHA:244242
Choreoacanthocytosis	Protruding tongue, Weight loss, Arthritis, Falls, Dysphagia, Loss of ambulation	ORPHA:2388
Penile Agenesis	Rectal fistula, Cryptorchidism, Anorectal anomaly, Tracheoesophageal fistula, Anal atresia	ORPHA:49
Lymphedema-Distichiasis Syndrome	Kyphosis, Conjunctivitis, Cleft palate	OMIM:153400
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Craniosynostosis, Ulnar bowing, Humeroradi...	OMIM:201750
Cushing Disease	Increased urinary cortisol level, Truncal obesity, Abdominal obesity, Increased body weight	ORPHA:96253
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Stippled calcification of the shoulder, Abnormal calcification of the ca...	ORPHA:51608
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Arachnodactyly, High, narrow palate, Patent ductus arteriosus, Abnormal sternum morphology, Scoli...	ORPHA:91387

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Smad3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Smad3.

No publications found that use IMPC mice or data for Smad3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Smad3^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Smad3^em1(IMPC)H	Indel	Mice
Smad3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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