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

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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 (4 diseases)
Human diseases predicted to be associated with Smad3 (2368 diseases)

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

Disease	Matching phenotypes	Source
Aneurysm-Osteoarthritis Syndrome	Bifid uvula, Pectus carinatum, Camptodactyly of finger, Osteochondritis dissecans, Spondylolisthe...	ORPHA:284984
Loeys-Dietz Syndrome 3	Intervertebral disk degeneration, Knee osteoarthritis, Arachnodactyly, Talipes equinovarus, Eosin...	OMIM:613795
Loeys-Dietz Syndrome	Bifid uvula, Pectus carinatum, Joint dislocation, Uterine rupture, Camptodactyly of finger, Joint...	ORPHA:60030
Familial Thoracic Aortic Aneurysm And Aortic Dissection	High, narrow palate, Abnormal sternum morphology, Arachnodactyly, Scoliosis, Patent ductus arteri...	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
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated circulating creatine kinase concentration	ORPHA:206599
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati...	OMIM:220150
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea...	OMIM:619281
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Autoimmune ...	ORPHA:436159
Ras-Associated Autoimmune Leukoproliferative Disorder	Lymphoma, Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody leve...	OMIM:614470
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Diarrhea, Eczematoid dermatitis, Lymphopenia...	OMIM:616100
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:614196
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ...	OMIM:618986
Renal Failure, Progressive, With Hypertension	Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i...	OMIM:161900
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He...	OMIM:614817
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Reduced natural killer cell count, Diarrhea, Partial absence...	OMIM:618108
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep...	OMIM:615285
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Nephronophthisis 18	Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Hyperte...	OMIM:615862
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration	ORPHA:2843
Specific Granule Deficiency 1	Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent...	OMIM:245480
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ...	OMIM:300635
Peutz-Jeghers Syndrome	Neoplasm of the colon, Stomach cancer, Intestinal obstruction, Neoplasm of the rectum, Abdominal ...	ORPHA:2869
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Recurrent sinusitis, Abnormal natural killer ...	OMIM:613101
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Reduc...	OMIM:300400
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Hypoplasia of the odontoid process, Finger swelling, Limitation of joint mob...	ORPHA:93284
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m...	OMIM:619350
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Eczematoid dermatitis, Lymphoma, Leukopenia, Acute myeloid leukemia,...	OMIM:616871
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Skin rash, Abscess, Autoimmune hemolytic an...	OMIM:619374
Dysspondyloenchondromatosis	Platyspondyly, Anisospondyly, Joint dislocation, Abnormal ulnar metaphysis morphology, Genu valgu...	ORPHA:85198
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, Chronic diarrhea, B-cell lymphoma, Lymphadenopath...	OMIM:619164
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy...	OMIM:267500
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Clinodactyly...	ORPHA:3268
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease...	ORPHA:228302
Liebenberg Syndrome	Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin...	OMIM:186550
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec...	OMIM:615592
Volvulus Of Midgut	Volvulus, Intestinal malrotation, Neonatal intestinal obstruction, Constipation, Abdominal disten...	OMIM:193250
Immunodeficiency 97 With Autoinflammation	Diarrhea, Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased pr...	OMIM:619802
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Difficulty walking, Limited hip movement, Dysplasia of the femoral head, Hip contracture, Abnorma...	ORPHA:99642
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea	OMIM:619398
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Micro...	ORPHA:93351
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the liver, Neopl...	ORPHA:424019
Multiple Epiphyseal Dysplasia, Beighton Type	Limitation of joint mobility, Genu valgum, Intervertebral space narrowing, Reduced proximal inter...	ORPHA:166011
Nephronophthisis 1	Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal...	OMIM:256100
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Radial Hemimelia	Aplasia/Hypoplasia of the radius, Deviation of the hand or of fingers of the hand, Abnormality of...	ORPHA:93321
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Abdominal pain, Recurrent pancreatitis, Splenomegaly	OMIM:118830
Medullary cystic kidney disease 2	Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Renal corti...	OMIM:603860
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, H...	OMIM:174000
Brachydactylous Dwarfism, Mseleni Type	Platyspondyly, Hip osteoarthritis, Joint subluxation, Abnormality of the ankle, Osteoarthritis of...	ORPHA:2619
Mueller-Weiss Syndrome	Joint subluxation, Tibiofibular diastasis, Tibial torsion, Abnormality of the os naviculare pedis...	ORPHA:566943
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology	OMIM:602114
Autoimmune Lymphoproliferative Syndrome	Neoplasm of the skin, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased prop...	ORPHA:3261
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Increased circulating IgE le...	OMIM:617241
Hip Dysplasia, Beukes Type	Broad femoral neck, Abnormal epiphysis morphology, Abnormality of the epiphysis of the femoral he...	ORPHA:2114
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Decreased circulating IgG level, Ulcerative colitis, Panc...	OMIM:618394
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra...	OMIM:177170
Hirschsprung Disease	Diarrhea, Functional abnormality of the gastrointestinal tract, Neoplasm of the thyroid gland, In...	ORPHA:388
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Impaired lymph...	OMIM:617006
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, A...	ORPHA:37042
Solitary Rectal Ulcer Syndrome	Hematochezia, Tenesmus, Stercoral ulcer, Anal fissure, Bloody diarrhea, Chronic constipation, Epi...	ORPHA:209964
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ...	OMIM:271650
Iga Nephropathy, Susceptibility To, 2	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur...	OMIM:613944
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Hip osteoarthritis, Delayed epiphyseal ossification, Broad femoral neck, Ir...	OMIM:132400
Multiple Epiphyseal Dysplasia Type 1	Delayed epiphyseal ossification, Arthralgia of the hip, Limitation of joint mobility, Avascular n...	ORPHA:93308
Progressive Pseudorheumatoid Dysplasia	Joint contracture of the hand, Difficulty walking, Sclerotic vertebral endplates, Flattened epiph...	OMIM:208230
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Decreased circulating antibody level, Autoimmune hemolyt...	OMIM:616576
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Fragmentation of the metacarpal epiphyses, Abnormality of the ankle, Reduced arm span, Arthralgia...	ORPHA:166002
Diastrophic Dysplasia	Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Short finger, Irreg...	OMIM:222600
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Osteochondrosis Of The Metatarsal Bone	Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o...	ORPHA:564003
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Granuloma, Anal...	OMIM:618935
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Short neck, Flat...	OMIM:251450
Immunodeficiency 70	Verrucae, Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, R...	OMIM:618969
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Delayed epiphyseal ossification, Broad middle phalanx of finger, Cone-shaped epiphysis, Short 1st...	OMIM:182255
Epiphyseal Dysplasia, Multiple, 6	Arthralgia of the hip, Schmorl's node, Irregular epiphyses, Small epiphyses, Flat distal femoral ...	OMIM:614135
Craniosynostosis, Adelaide Type	Shortening of all middle phalanges of the fingers, Carpal bone malsegmentation, Hallux valgus, Co...	OMIM:600593
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Talipes equino...	OMIM:613330
Immunodeficiency 108 With Autoinflammation	Abdominal pain, Recurrent aphthous stomatitis, Hyposegmentation of neutrophil nuclei, Impaired ne...	OMIM:260570
Spondylometaphyseal Dysplasia, Type A4	Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,...	OMIM:609052
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Short toe, Spinal ...	ORPHA:429
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa...	ORPHA:911
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Nephronophthisis 4	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia...	OMIM:606966
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Lymphoma, Recurrent otitis media, Decrease...	OMIM:300853
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Muco...	OMIM:615767
Osteochondrosis Of The Tarsal Bone	Tarsal sclerosis, Abnormal tarsal ossification, Chondritis, Osteochondritis dissecans, Tarsal sti...	ORPHA:563991
High-Grade Dysplasia In Patients With Barrett Esophagus	Barrett esophagus, Gastroesophageal reflux, Dysphagia, Esophageal obstruction	ORPHA:231080
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
Diarrhea 8, Secretory Sodium, Congenital	Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention	OMIM:616868
Hereditary Mixed Polyposis Syndrome	Hematochezia, Colon cancer, Adenomatous colonic polyposis, Endometrial carcinoma, Thyroid carcino...	ORPHA:157794
Acromesomelic Dysplasia, Hunter-Thompson Type	Acromesomelia, Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormality of the ankle,...	ORPHA:968
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent aphthous stomatitis, Helicobacter pylori infection, Neutropenia, Monocytos...	ORPHA:2688
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct...	OMIM:266600
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Inflammation of the large intestine, Chronic mucocutaneous candi...	ORPHA:98813
Chronic Diarrhea Due To Glucoamylase Deficiency	Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Nausea, Abdominal distentio...	ORPHA:103907
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of...	ORPHA:1836
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium...	ORPHA:567544
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Ulcerative colitis, Increased circulating IgE level, Colonic eosino...	OMIM:617638
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc...	OMIM:619468
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Colonic atresia, Lymphopenia, Psoriasiform dermatitis, Intestinal obstruction, Rec...	OMIM:243150
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finge...	OMIM:130060
Epiphyseal Dysplasia, Multiple, 2	Epiphyseal dysplasia, Broad-based gait, Tibial torsion, Irregular epiphyses, Small epiphyses, Ost...	OMIM:600204
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Decre...	OMIM:607271
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Desmoid Tumor	Neoplasm of the skin, Gastrointestinal hemorrhage, Malabsorption, Intestinal polyposis, Intestina...	ORPHA:873
Waardenburg-Shah Syndrome	Premature graying of hair, Abnormal eyebrow morphology, White forelock, Intestinal obstruction, A...	ORPHA:897
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Secretory diarrhea, Reduced natural killer cell activity, Panc...	OMIM:616050
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Arthritis, Thrombocytosis, Sterile abscess, ...	OMIM:604416
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Adiposis Dolorosa	Painful subcutaneous lipomas, Depression, Abdominal distention, Constipation	OMIM:103200
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Decreased circu...	OMIM:616098
Immunodeficiency 82 With Systemic Inflammation	Diarrhea, Anoperineal fistula, Pustular rash, Decreased circulating total IgG, Recurrent otitis m...	OMIM:619381
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Hip osteoarthritis, Short thumb, Broad hallux, Premature osteoarthritis, Lumbar hyperlordosis, Os...	OMIM:165800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre...	OMIM:617056
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic...	OMIM:602088
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Hematochezia, Minimal change glomerulonephritis, Eczematoid dermatitis, Hepatitis, Increased circ...	OMIM:620565
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Diarrhea, Lymphoma, ...	OMIM:240500
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Platyspondyly, Hypoplastic iliac wing, Lumbar hyperlordosis, Enlarged epiphyses of the phalanges ...	OMIM:609616
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden...	ORPHA:454840
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Neoplasm of the colon, Nausea and vomiting, Esophageal neoplasm, Int...	ORPHA:44890
Polycystic Kidney Disease 7	Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ...	OMIM:620056
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Premature osteoarthritis, Genu valgum, Abn...	ORPHA:93360
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Aplasia/Hypoplasia of the f...	ORPHA:2632
Muir-Torre Syndrome	Sebaceous gland carcinoma, Colonic diverticula, Colon cancer, Malignant genitourinary tract tumor...	OMIM:158320
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d...	OMIM:614723
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Diarrhea,...	OMIM:607594
Spondylocostal Dysostosis 3, Autosomal Recessive	Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j...	OMIM:609813
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Metaphyseal irregularity, Arthralgia of the hip, Broad femoral neck, Hypopl...	OMIM:607078
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612925
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Nausea and vomiting, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutro...	ORPHA:79312
Epiphyseal Dysplasia, Multiple, 7	Platyspondyly, Epiphyseal dysplasia, Vertebral wedging, Hypoplasia of the capital femoral epiphys...	OMIM:617719
Immunodeficiency 91 And Hyperinflammation	Recurrent pneumonia, Hemophagocytosis, Acute hepatic failure, Hepatosplenomegaly, Intermittent di...	OMIM:619644
Ménétrier Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Malnutrition, Stomach c...	ORPHA:2494
Osteoarthritis With Mild Chondrodysplasia	Platyspondyly, Hip osteoarthritis, Schmorl's node, Joint stiffness, Knee osteoarthritis, Beaking ...	OMIM:604864
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Diarrhea, Periodontitis, Aplastic anemia, Lymphopenia, Recurrent aphthous stomatitis, ...	ORPHA:486
Trehalase Deficiency	Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain	ORPHA:103909
Immunodeficiency 53	Recurrent pneumonia, Recurrent otitis media, Skin rash, Impaired lymphocyte transformation with p...	OMIM:617585
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612924
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibros...	OMIM:618913
Leri-Weill Dyschondrosteosis	Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ...	OMIM:127300
Infantile Myofibromatosis	Neoplasm of the skin, Abnormal hair morphology, Benign neoplasm of the central nervous system, In...	ORPHA:2591
Ganglioneuroma	Gastrointestinal hemorrhage, Abnormal rectum morphology, Ganglioneuroma, Hamartomatous polyposis,...	ORPHA:251992
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Mediastinal lymphadenopathy, Le...	ORPHA:809
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Thymoma, Non-caseating epithelioid cell granulomatosis, Rheumatoid arthritis,...	ORPHA:227990
Spondylometaphyseal Dysplasia, Kozlowski Type	Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Irregular capital femoral...	OMIM:184252
Autoimmune Polyendocrinopathy Type 3	Rheumatoid arthritis, Xerostomia, Autoimmune hypoparathyroidism, Iridocyclitis, Tubulointerstitia...	ORPHA:227982
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612926
Pseudomyxoma Peritonei	Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, A...	ORPHA:26790
Shwachman-Diamond Syndrome	Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu...	ORPHA:811
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Pectus carinatum, Sclerotic foci of metaphyses of the elbow, Kyphosis, Short iliac...	OMIM:271530
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal...	OMIM:619079
Immunodeficiency 42	Recurrent aphthous stomatitis, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of...	OMIM:616622
Sjogren Syndrome	Tubulointerstitial nephritis, Rheumatoid arthritis, Keratoconjunctivitis sicca	OMIM:270150
Familial Calcium Pyrophosphate Deposition	Chondrocalcinosis, Joint dislocation, Limitation of joint mobility, Calcification of cartilage, J...	ORPHA:1416
Epiphyseal Dysplasia, Multiple, 3	Epiphyseal dysplasia, Delayed epiphyseal ossification, Irregular epiphyses, Abnormal hip joint mo...	OMIM:600969
Acromesomelic Dysplasia, Maroteaux Type	Acromesomelia, Vertebral wedging, Abnormal form of the vertebral bodies, Bowing of the long bones...	ORPHA:40
Familial Avascular Necrosis Of Femoral Head	Hip osteoarthritis, Short stepped shuffling gait, Limited hip movement, Abnormal femoral neck/hea...	ORPHA:86820
Familial Adenomatous Polyposis 3	Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c...	OMIM:616415
Senior-Loken Syndrome 1	Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:266900
Scheuermann Disease	Osteochondrosis, Kyphosis, Morbus Scheuermann	OMIM:181440
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Iga Nephropathy, Susceptibility To, 1	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur...	OMIM:161950
Dystonia 31	Depression, Dysphagia, Abnormal posturing	OMIM:619565
Otospondylomegaepiphyseal Dysplasia	Abnormal vertebral morphology, Epiphyseal dysplasia, Limitation of joint mobility, Abnormal joint...	ORPHA:1427
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Reduction of neutrophil motility, Periodontitis, Recurrent otitis media, Neutrophilia	OMIM:266265
Alport Syndrome	Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m...	ORPHA:63
Multiple Epiphyseal Dysplasia Type 4	Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Premature osteoarthr...	ORPHA:93307
Primary Myelofibrosis	Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomeg...	ORPHA:824
Juvenile Polyposis Syndrome	Hematochezia, Diarrhea, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Abdomi...	OMIM:174900
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Genu valgum, Hip contracture, Flattened epiphysis, High palate, Advanced ossification of carpal b...	OMIM:618363
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda...	OMIM:617405
Immunodeficiency 32B	Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Sinusitis, Eos...	OMIM:226990
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent pneumonia, Inflammatory abnormality of the skin, Diarrhea, Absence of lymph node germin...	ORPHA:277
Myopathic Ehlers-Danlos Syndrome	Joint contracture of the hand, Talipes equinovarus, Patellar subluxation, High, narrow palate, An...	ORPHA:536516
Parastremmatic Dwarfism	Genu valgum, Bowing of the long bones, Short neck, Scoliosis, Kyphosis	OMIM:168400
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Apc-Related Attenuated Familial Adenomatous Polyposis	Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ...	ORPHA:247806
Zygomycosis	Diarrhea, Ileitis, Pustule, Hematological neoplasm, Acute infectious pneumonia, Neutropenia, Abdo...	ORPHA:73263
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver...	ORPHA:239
Neutrophilia, Hereditary	Myelodysplasia, Splenomegaly, Neutrophilia	OMIM:162830
Small Bowel Atresia	Vomiting, Intestinal malrotation, Jejunal atresia, Intestinal hypoplasia, Abdominal distention, F...	ORPHA:1201
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta...	OMIM:602111
Beukes Hip Dysplasia	Shallow acetabular fossae, Broad femoral neck, Avascular necrosis of the capital femoral epiphysi...	OMIM:142669
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Thoracolumbar scoliosis, Patellar subluxation, Unsteady gait, High palate, Hyperextensibility of ...	ORPHA:3041
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Diarrhea, Decreased lymphocyte proliferation in response to an...	OMIM:619313
Crome Syndrome	Renal tubular epithelial necrosis	OMIM:218900
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Hyperuricemia, Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts	OMIM:609886
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Diarrhea, Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells...	ORPHA:276
Heart Defects-Limb Shortening Syndrome	Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Abnorm...	ORPHA:1354
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,...	ORPHA:174
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Abnormal epiphysis morphology, Micromelia, Osteoarthritis, Short thorax	ORPHA:93283
Immunodeficiency 52	Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat...	OMIM:617514
Brachyolmia Type 1, Toledo Type	Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious...	OMIM:271630
Burkitt Lymphoma	Gastrointestinal hemorrhage, Neoplasm of the oral cavity, Nausea and vomiting, Intestinal obstruc...	ORPHA:543
Immunodeficiency 104	Pneumonia, Gastroesophageal reflux, Diarrhea, Chronic mucocutaneous candidiasis, Eczematoid derma...	OMIM:608971
Acropectorovertebral Dysplasia	Abnormal vertebral morphology, Toe syndactyly, Spina bifida occulta at L5, Synostosis of carpal b...	OMIM:102510
Neuroendocrine Neoplasm Of Appendix	Adenocarcinoma of the colon, Abdominal colic, Protracted diarrhea, Anorexia, Hypoactive bowel sou...	ORPHA:100079
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Ba...	OMIM:223800
Kyphomelic Dysplasia	Narrow chest, Abnormal form of the vertebral bodies, Micromelia, Short thorax, Undulate ribs, Mis...	ORPHA:1801
Ankylosing Vertebral Hyperostosis With Tylosis	Palmoplantar keratoderma, Abnormality of the vertebral column, Obesity, Osteoarthritis, Abnormal ...	ORPHA:2206
Nephrotic Syndrome, Type 10	Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo...	OMIM:615861
Cyclic Neutropenia	Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, ...	ORPHA:2686
Maternal Uniparental Disomy Of Chromosome 9	Abnormal vertebral morphology, Failure to thrive, Hamstring contractures, Kyphoscoliosis, Short n...	ORPHA:96183
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Recurrent otitis media, Facial papilloma, Autoimmune hemolytic anemia, ...	OMIM:619220
Mhc Class Ii Deficiency 1	Cutaneous anergy, Chronic mucocutaneous candidiasis, Protracted diarrhea, Panhypogammaglobulinemi...	OMIM:209920
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Cholelithiasis, Diarrhea, Female hypogonadism, Chronic mucocutaneous candidia...	OMIM:240300
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Acute kidney injury, Elevated circulating creatinine concentration, Unilateral...	ORPHA:49041
Multiple Epiphyseal Dysplasia Type 5	Multiple small vertebral fractures, Arthralgia of the hip, Abnormality of the epiphyses of the fe...	ORPHA:93311
Mismatch Repair Cancer Syndrome 1	Adenocarcinoma of the colon, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, ...	OMIM:276300
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Platyspondyly, Thin ribs, Metaphyseal irregularity, Multiple joint dislocation, Short femoral nec...	OMIM:618395
C3 Glomerulopathy 3	Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes...	OMIM:614809
Punctate Palmoplantar Keratoderma Type 1	Adenocarcinoma of the colon, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Nail dys...	ORPHA:79501
Nemaline Myopathy 7	Genu recurvatum, Shoulder girdle muscle weakness, Lumbar hyperlordosis, Knee flexion contracture,...	OMIM:610687
Syndromic Diarrhea	Hepatic fibrosis, Intractable diarrhea, Panhypogammaglobulinemia, Lymphopenia, Abnormality of the...	ORPHA:84064
Arthrogryposis, Distal, Type 3	Overlapping toe, Cutaneous finger syndactyly, Cryptorchidism, Talipes equinovarus, Short neck, Th...	OMIM:114300
Hirschsprung Disease, Susceptibility To, 1	Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti...	OMIM:142623
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hemophagocytosis, Decreased liver function, Reduced natural killer cel...	ORPHA:540
Platyspondylic Dysplasia, Torrance Type	Platyspondyly, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Narrow ...	ORPHA:85166
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Tip-toe gait, Knee flexion contracture, Kyphoscoliosis, ...	ORPHA:496689
Axin2-Related Attenuated Familial Adenomatous Polyposis	Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis	ORPHA:401911
Congenital Sucrase-Isomaltase Deficiency	Diarrhea, Vomiting, Gastroesophageal reflux, Abdominal colic, Nausea, Constipation, Abdominal dis...	ORPHA:35122
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Platyspondyly, Hip osteoarthritis, Osteoarthritis, Flattened metatarsal heads, Flattened metacarp...	OMIM:271600
Spondyloepiphyseal Dysplasia, Stanescu Type	Platyspondyly, Hypoplastic ilia, Vertebral wedging, Stiff neck, Joint stiffness, Internal tibial ...	OMIM:616583
Diarrhea 12, With Microvillus Atrophy	Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA...	OMIM:619445
Winchester Syndrome	Carpal osteolysis, Osteolysis involving tarsal bones, Arthropathy, Broad metacarpals, Kyphosis	OMIM:277950
Intestinal Dysmotility Syndrome	Diarrhea, Decreased intestinal transit time, Projectile vomiting, Abdominal distention, High pala...	OMIM:620045
Immunodeficiency 27A	Pneumonia, Diarrhea, Increased circulating IgG level, Anorexia, Hepatosplenomegaly, Leukocytosis,...	OMIM:209950
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Platyspondyly, Bowing of the legs, Lower limb undergrowth, Kyphoscoliosis, Lumbar scoliosis, Brac...	OMIM:612847
Peritoneal Cystic Mesothelioma	Neoplasm, Metrorrhagia, Peritonitis, Constipation, Dyspareunia, Abdominal distention, Abdominal p...	ORPHA:168816
Progressive Osseous Heteroplasia	Limitation of joint mobility, Abnormality of the parathyroid gland, Ectopic ossification in muscl...	ORPHA:2762
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula...	ORPHA:168549
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Celiac ...	ORPHA:183675
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated...	ORPHA:329918
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Radiation Proctitis	Hematochezia, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, Abdominal p...	ORPHA:70475
Metatropic Dysplasia	Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Coarse metap...	ORPHA:2635
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Skin rash, Ileal ulcer, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uveitis	OMIM:616744
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Arthrogryposis multiplex congenita, Cryptorchidism, Kyphoscoliosis, Ta...	OMIM:618484
Osteoarthritis Susceptibility 3	Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal ...	OMIM:607850
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease...	ORPHA:157
Gastrointestinal Stromal Tumor	Neurofibroma, Intestinal obstruction, Gastrointestinal stroma tumor, Constipation, Dysphagia	OMIM:606764
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Leukopenia, Colitis, Decreased circulating antibody level, Esophagea...	OMIM:615190
Kienbock Disease	Limitation of joint mobility, Abnormality of the wrist, Osteochondritis dissecans, Osteoarthritis	ORPHA:97332
Carpenter Syndrome	Toe syndactyly, Broad thumb, Finger syndactyly, Preaxial foot polydactyly, External genital hypop...	ORPHA:65759
Familial Adenomatous Polyposis	Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ...	ORPHA:733
Pelvic Organ Prolapse, Susceptibility To	Rectal prolapse, Bowel incontinence	OMIM:176780
Legg-Calvé-Perthes Disease	Joint dislocation, Cartilage destruction	ORPHA:2380
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Pulmonary hemorrhage, Renal...	ORPHA:93126
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Folate-unresponsive megaloblastic anemia, Diarrhea, Abnormal erythrocyte morphology, Gastritis, M...	ORPHA:2575
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Interm...	OMIM:616433
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increa...	OMIM:602450
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of...	OMIM:313400
Cap Polyposis	Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain, C...	ORPHA:160148
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Inflammation of the large intestine, Reduced natural kill...	OMIM:301074
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Red-brown urine, Dicarboxylic aciduria, Decreas...	ORPHA:228308
Angel-Shaped Phalangoepiphyseal Dysplasia	Hip osteoarthritis, Pseudoepiphyses of the metacarpals, Premature osteoarthritis, Delayed ossific...	OMIM:105835
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Platyspondyly, Pectus carinatum, Broad femoral neck, Lumbar hyperlordosis, Thoracic kyphosis, Gen...	OMIM:609223
Eng-Strom Syndrome	Camptodactyly of finger, Brachydactyly, Arthritis, Pectus excavatum, Scoliosis	ORPHA:1937
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Platyspondyly, Epiphyseal dysplasia, Premature osteoarthritis, Enlarged epiphyses, Cleft palate	OMIM:184840
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa...	ORPHA:231222
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti...	OMIM:619201
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits	ORPHA:69063
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Short thumb, Overlapping toe, Camptodactyly, Clinodactyly of the 5th finger, Kyphosis	OMIM:618453
Roussy-Lévy Syndrome	Urinary bladder sphincter dysfunction, Difficulty walking, Genu valgum, Gait ataxia, Limb ataxia,...	ORPHA:3115
Spastic Paraplegia 18B, Autosomal Recessive	Inability to walk, Ankle clonus, Gait disturbance, Joint contracture, High palate, Scoliosis, Kyp...	OMIM:611225
Congenital Short Bowel Syndrome	Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Intestinal mal...	OMIM:615237
Malignant Peritoneal Mesothelioma	Ileus, Neoplasm, Peritonitis, Abdominal distention, Abdominal pain	ORPHA:168811
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Coxa valga, Arthritis, Hip dysplasia	OMIM:615612
Severe Canavan Disease	Vomiting, Gastroesophageal reflux, Oral-pharyngeal dysphagia, Nasogastric tube feeding, Gastrosto...	ORPHA:314911
Schwartz-Jampel Syndrome, Type 1	Joint contracture of the hand, Hip contracture, Bowing of the long bones, Talipes equinovarus, Sh...	OMIM:255800
Familial Adenomatous Polyposis 1	Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno...	OMIM:175100
Postaxial Oligodactyly, Tetramelic	Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-...	OMIM:176240
Cranio-Osteoarthropathy	Clubbing of toes, Deviation of finger, Eczematoid dermatitis, Abnormal tibia morphology, Joint st...	ORPHA:1525
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Knee dislocation, Shoulder dislocation, Cryptorchidism, Thoracic scoliosis, Cervical ...	OMIM:618000
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Pectus carinatum, Abnormal metacarpal morphology, Osteoarthritis, Pectus excavatum, Glossoptosis,...	ORPHA:166100
Congenital Pancreatic Cyst	Vomiting, Anorexia, Abdominal pain, Pancreatitis, Abdominal distention, Jaundice	ORPHA:313906
Acromesomelic Dysplasia 2C	Acromesomelia, Shortening of all middle phalanges of the fingers, Short tibia, Short thumb, Radia...	OMIM:201250
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:616629
Early Myoclonic Encephalopathy	Lethargy, Dysphagia, Feeding difficulties, Poor suck	ORPHA:1935
Immunodeficiency 9	Decreased circulating IgG level, Lymphopenia, Recurrent aphthous stomatitis, Decreased circulatin...	OMIM:612782
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Abnormality of the vertebral column, Type A brachydactyly, Rad...	OMIM:112910
Interstitial Pneumonitis, Desquamative, Familial	Tubulointerstitial fibrosis	OMIM:263000
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Renal insufficiency, Skin rash, Interstitial pneumonitis, Infectious encephalitis, Pus...	ORPHA:139402
Blue Rubber Bleb Nevus	Intestinal bleeding, Volvulus, Hemangioma, Rectal prolapse, Cerebellar medulloblastoma, Intussusc...	OMIM:112200
Immunodeficiency 18	Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ...	OMIM:603546
Hypophosphatemic Rickets, X-Linked Dominant	Renal phosphate wasting, Shortening of the talar neck, Metaphyseal irregularity, Abnormal pelvic ...	OMIM:307800
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie...	ORPHA:79233
Immunodeficiency 50	Lymphopenia, Decreased circulating antibody level, Eczematoid dermatitis, Neutropenia	OMIM:300988
Renal Tubular Acidosis, Distal, 1	Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, I...	OMIM:179800
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Gastrointestinal hemorrhage, Abnormal urinary electrolyte concentration, Congestive ...	ORPHA:85450
Primary Peritoneal Carcinoma	Neoplasm, Nausea and vomiting, Peritonitis, Constipation, Abdominal distention, Abdominal pain	ORPHA:168829
Dysplasia Epiphysealis Hemimelica	Abnormal femoral neck morphology, Abnormal epiphysis morphology, Irregular epiphyses, Joint stiff...	ORPHA:1822
Stickler Syndrome, Type I	Platyspondyly, Abnormal femoral epiphysis morphology, Bifid uvula, Irregular femoral epiphysis, J...	OMIM:108300
Adenocarcinoma Of The Anal Canal	Anal stenosis, Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the liver, Neopl...	ORPHA:424016
Mirage Syndrome	Gastroesophageal reflux, Scoliosis, Aspiration pneumonia, Lymphopenia, Leukopenia, Adrenal insuff...	OMIM:617053
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D...	OMIM:615513
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Pectus carinatum, Brachydactyly, Short femoral neck, Kyphosis, Delayed ossification of carpal bones	OMIM:618392
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Nausea and vomiting, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:289916
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abnormal vertebral morphology, Delayed epiphyseal ossification, Premature osteoarthritis, Squared...	ORPHA:93352
Thoracolaryngopelvic Dysplasia	Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta...	OMIM:187760
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Transient ischemic attack, Ren...	ORPHA:183
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Abnormal epiphysis morphology, Short 1st metacarpal, Joint hypermobility, Hip...	ORPHA:63442
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni...	OMIM:603909
Jeune Syndrome	Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Elbow dislocation, Cryptorchidism, Bowing of the long bones, Abno...	ORPHA:628
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Abdominal pai...	ORPHA:97286
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Elevated circulating creatinine concentration, Proteinuria, Hematuria, Ab...	OMIM:123550
Legionnaires Disease	Bone marrow hypocellularity, Diarrhea, Hepatitis, Lymphopenia, Nausea and vomiting, Splenomegaly,...	ORPHA:549
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Granuloma, Hemophagocytosi...	OMIM:619858
Desmoplastic Small Round Cell Tumor	Ileus, Nausea and vomiting, Testicular neoplasm, Abdominal distention, Abdominal pain, Sarcoma, O...	ORPHA:83469
Lissencephaly Syndrome, Norman-Roberts Type	Abnormality of neuronal migration, Microlissencephaly, Hypoplastic spleen, Dysphagia, Feeding dif...	ORPHA:89844
Peutz-Jeghers Syndrome	Intestinal bleeding, Gastrointestinal carcinoma, Uterine neoplasm, Bloody diarrhea, Neoplasm of t...	OMIM:175200
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Elbow contracture, Hip contracture, Kyphoscoliosis, Wrist flexion contracture, Ankle contracture,...	OMIM:620386
Scholte Syndrome	Small hand, Patellar hypoplasia, Decreased testicular size, Kyphoscoliosis, Short foot, Micropeni...	OMIM:300977
Dermatoosteolysis, Kirghizian Type	Keratitis, Abnormal diaphysis morphology, Abnormality of the wrist, Abnormal metaphysis morpholog...	ORPHA:1657
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Platyspondyly, Irregular acetabular roof, Metaphyseal dysplasia, Genu varum, Delayed ossification...	OMIM:617974
Schimke Immuno-Osseous Dysplasia	Platyspondyly, Minimal change glomerulonephritis, Bone marrow hypocellularity, Abdominal distenti...	ORPHA:1830
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal ...	ORPHA:2924
Polymerase Proofreading-Related Adenomatous Polyposis	Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade...	ORPHA:447877
Papa Syndrome	Type I diabetes mellitus, Crohn's disease, Increased inflammatory response, Pustule, Myositis, In...	ORPHA:69126
Attenuated Familial Adenomatous Polyposis	Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,...	ORPHA:220460
Omenn Syndrome	Pneumonia, Diarrhea, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Erythroderma, ...	OMIM:603554
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Arthritis	OMIM:216950
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Metaphyseal spurs, Posterior rib cupping, Micromelia, Irregular epiphyses, Thoraci...	OMIM:608728
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Brachydactyly, Short thumb, Osteoarthritis	ORPHA:435804
Mitochondrial Complex I Deficiency, Nuclear Type 8	Pancreatitis, Dysphagia, Kyphoscoliosis	OMIM:618230
Enthesitis-Related Juvenile Idiopathic Arthritis	Sacroiliac arthritis, Abnormal thoracic spine morphology, Abnormal metatarsal morphology, Knee os...	ORPHA:85438
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Malnutrition, Malabsorption, Gastrointestinal dysmotility, Constip...	OMIM:613662
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Early satiety, Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esopha...	OMIM:147060
Chst3-Related Skeletal Dysplasia	Rhizomelia, Abnormal form of the vertebral bodies, Irregular epiphyses, Small epiphyses, Genu val...	ORPHA:263463
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	High, narrow palate, Hypermobility of interphalangeal joints, Broad thumb, Shuffling gait, Broad ...	ORPHA:3433
Smith-Mccort Dysplasia 2	Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Broad femoral neck, Genu val...	OMIM:615222
Albers-Schönberg Osteopetrosis	Short distal phalanx of finger, Mandibular osteomyelitis, Joint dislocation, Abnormal epiphysis m...	ORPHA:53
Aicardi-Goutieres Syndrome 7	Diarrhea, Pancytopenia, Chilblains, Hepatic steatosis, Increased circulating antibody level, Hepa...	OMIM:615846
Autosomal Dominant Brachyolmia	Platyspondyly, Increased vertebral height, Kyphoscoliosis, Short thorax, Abnormal metaphysis morp...	ORPHA:93304
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis	OMIM:607624
Ebola Hemorrhagic Fever	Acute pancreatitis, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Lymphopenia, Leuk...	ORPHA:319218
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Candidiasis, Familial, 1	Cutaneous anergy, Abnormality of the endocrine system, Chronic mucocutaneous candidiasis	OMIM:114580
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Recurrent otitis media, Increased circulating IgE level, Hepatosplen...	OMIM:618982
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Difficulty walking, Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of ...	ORPHA:457395
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Platyspondyly, Osteopenia, Joint contracture of the hand, Bifid uvula, Broad femoral neck, Flared...	OMIM:612350
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Thin ribs, Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Flattened epiphy...	OMIM:300232
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met...	OMIM:184253
Inflammatory Bowel Disease 28, Autosomal Recessive	Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis	OMIM:613148
Whistling Face Syndrome, Recessive Form	Ulnar deviation of finger, Microglossia, Shoulder flexion contracture, Elbow flexion contracture,...	OMIM:277720
Schnitzler Syndrome	Lymphoma, Leukocytosis, Skin rash, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia...	ORPHA:37748
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Short distal phalanx of finger, Increased circulating IgE level, Hypoplastic iliac wing, Brachyda...	ORPHA:1858
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Abnormal form of the vertebral bodies, Clavicular sclerosis, Diaphyseal...	ORPHA:2790
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Abnormality of the ovary, Decreased testicular size, Joint hypermobility, Cubitus v...	ORPHA:1875
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Micromelia, Coxa vara, Flared, irregular rib ends, Short palm	ORPHA:168555
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Short hallux, Dislocated radial head, Hip dislocation...	OMIM:311300
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane...	OMIM:601859
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Platyspondyly, Epiphyseal dysplasia, Aplasia/Hypoplasia of the capital femoral epiphysis, Recurre...	OMIM:215150
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center, Osteomyelitis, Recurrent infection of the gastrointestinal...	OMIM:608184
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decreased proportion of...	OMIM:614878
Laron Syndrome	Short toe, Brachydactyly, Osteoarthritis, Truncal obesity, Hypoplasia of penis, Abnormality of th...	ORPHA:633
Congenital Disorder Of Glycosylation, Type Iik	Epiphyseal dysplasia, Failure to thrive, Kyphoscoliosis, Joint hypermobility, Diaphyseal dysplasi...	OMIM:614727
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Inflammation of the large intestine, Viral hepatitis, Splenomegaly, ...	ORPHA:2137
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Reduced natu...	OMIM:308240
Combined Oxidative Phosphorylation Deficiency 9	Tubulointerstitial nephritis, Hypertrophic cardiomyopathy	OMIM:614582
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot, Genu varum...	OMIM:250420
Charcot-Marie-Tooth Disease, Axonal, Type 2X	Ankle flexion contracture, Proximal muscle weakness in upper limbs, Distal upper limb muscle weak...	OMIM:616668
Neutropenia, Chronic Familial	Periodontitis, Neutropenia, Increased circulating antibody level	OMIM:162700
Dominant Beta-Thalassemia	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi...	ORPHA:231226
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Portal hyperte...	OMIM:263200
Spondylosis, Cervical	Spondylolysis, Spondylolisthesis, Osteoarthritis, Cervical spondylosis, Spina bifida occulta	OMIM:184300
Congenital Myopathy 23	Difficulty walking, Kyphoscoliosis, Scapular winging, High palate, Flexion contracture, Waddling ...	OMIM:609285
Dent Disease	Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri...	ORPHA:1652
Diffuse Gastric And Lobular Breast Cancer Syndrome	Atrophic gastritis, Stomach cancer, Cleft palate	OMIM:137215
Alpha-Heavy Chain Disease	Lymphoma, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Hepatomegaly, Dysgamm...	ORPHA:100025
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Nausea and vomiting, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia,...	ORPHA:27
Lymphedema-Distichiasis Syndrome	Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Arrhythmia, T...	ORPHA:33001
Chondrocalcinosis 2	Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy	OMIM:118600
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephropathy, Nephritis, Decreased glomerular filtration rate, Gout, Renal insufficiency, Renal tu...	OMIM:162000
Mutyh-Related Attenuated Familial Adenomatous Polyposis	Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colon, Colorecta...	ORPHA:247798
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Prune Belly Syndrome	Multicystic kidney dysplasia, Abnormality of the ureter, Decreased fertility, Cryptorchidism, Tal...	ORPHA:2970
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Ataxia, Male hypogonadism, Small hand, Shuffling gait, Obesity, Kyphoscoliosis, Wrist flexion con...	OMIM:300055
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocytosis, Hem...	ORPHA:54057
Immunodeficiency 75 With Lymphoproliferation	Lymphoma, Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memo...	OMIM:619126
Schneckenbecken Dysplasia	Platyspondyly, Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Advanced tarsal ossificat...	OMIM:269250
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Short 4th metaca...	ORPHA:50809
Ficolin 3 Deficiency	Verrucae, Necrotizing enterocolitis	OMIM:613860
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Eczematoid dermatitis, Hypogonadism, Decreased circulating antib...	ORPHA:3132
Agammaglobulinemia 4, Autosomal Recessive	Protein-losing enteropathy, Recurrent pneumonia, Decreased circulating IgG level, Recurrent otiti...	OMIM:613502
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eosinophilia, Hypothy...	OMIM:618999
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Interphalangeal joint contracture of finger, Elbow flexion contracture...	ORPHA:1145
Stickler Syndrome Type 1	Platyspondyly, Abnormal epiphysis morphology, Abnormal vertebral epiphysis morphology, Joint hype...	ORPHA:90653
Immunodeficiency With Hyper-Igm, Type 1	Diarrhea, Enteroviral encephalitis, Cirrhosis, Increased circulating IgA level, Neutropenia, Hepa...	OMIM:308230
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Lymphoma, Recurrent otitis media, Decreased circulating antibod...	ORPHA:397596
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating IgG level, Abnormal epiphysis morphology, Brachydactyly, Abnormal rib morph...	ORPHA:2643
Immunodeficiency 115 With Autoinflammation	Decreased circulating IgG level, Verrucae, Eczematoid dermatitis, Intestinal lymphangiectasia, In...	OMIM:620632
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,...	OMIM:242700
Congenital Disorder Of Glycosylation, Type Iig	Small hand, Shallow acetabular fossae, Cryptorchidism, Talipes equinovarus, Short neck, High pala...	OMIM:611209
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:606843
Ehlers-Danlos Syndrome, Hypermobility Type	Loss of ambulation, Joint dislocation, Osteoarthritis, Joint hypermobility	OMIM:130020
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Chronic tubulo...	OMIM:614376
Warburg Micro Syndrome 1	Failure to thrive, Overlapping toe, External genital hypoplasia, Cryptorchidism, Kyphoscoliosis, ...	OMIM:600118
Immunodeficiency 87 And Autoimmunity	Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Hodgkin lymphoma, Hepatomeg...	OMIM:619573
Syndactyly, Type V	Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact...	OMIM:186300
Holt-Oram Syndrome	Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Abnormal clavicle...	ORPHA:392
Spondylometaphyseal Dysplasia, Axial	Platyspondyly, Rhizomelia, Narrow chest, Thoracic hypoplasia, Proximal femoral metaphyseal irregu...	OMIM:602271
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy, Anorexia	ORPHA:79283
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Platyspondyly, Pectus carinatum, Metaphyseal irregularity, Hypoplasia of the odontoid process, Cl...	OMIM:184250
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypohomocysteinemia, Hypocystinemia, Decreased circulating IgA level, Recurrent skin infections, ...	OMIM:617744
Osteogenesis Imperfecta, Type Xiii	Platyspondyly, Enuresis nocturna, Pectus carinatum, Wide distal femoral metaphysis, Increased bon...	OMIM:614856
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Platyspondyly, Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Hypoplasi...	OMIM:226980
Cerebrooculofacioskeletal Syndrome 1	Joint contracture of the hand, Recurrent pneumonia, Failure to thrive, Elbow flexion contracture,...	OMIM:214150
Homocystinuria Without Methylmalonic Aciduria	Lethargy, Vomiting	ORPHA:622
Arthrogryposis, Distal, Type 2A	Joint contracture of the hand, Cryptorchidism, Hip contracture, Talipes equinovarus, Short neck, ...	OMIM:193700
Restrictive Dermopathy 2	Gastroesophageal reflux, Rectal prolapse, Feeding difficulties	OMIM:619793
Rat-Bite Fever	Diarrhea, Lymphadenitis, Vomiting, Parotitis, Morbilliform rash, Skin rash, Back pain, Pustule, M...	ORPHA:31205
Chylous Ascites	Abnormal intestine morphology, Neoplasm, Pancreatitis	ORPHA:1160
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Glycogen Storage Disease Iv	Portal hypertension, Tubulointerstitial fibrosis, Cardiomyopathy, Bradycardia	OMIM:232500
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal metatarsal morphology, Knee osteoarthritis, Synovitis, Oligoarthritis, Iridocyclitis, We...	ORPHA:85408
Trichothiodystrophy 1, Photosensitive	Sparse hair, Fine hair, Hypogonadism, Trichorrhexis nodosa, Tiger tail banding, Malabsorption, Na...	OMIM:601675
Maturity-Onset Diabetes Of The Young, Type 11	Obesity, Overweight	OMIM:613375
Richieri Costa-Da Silva Syndrome	Pectus carinatum, Falls, Vertebral wedging, Decreased anterioposterior diameter of lumbar vertebr...	ORPHA:3101
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Bone marrow...	OMIM:166600
Mitochondrial Complex I Deficiency, Nuclear Type 3	Lethargy, Feeding difficulties, Episodic vomiting	OMIM:618224
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg...	ORPHA:1159
Immunodeficiency 69	Diarrhea, Hemophagocytosis, Pancytopenia, Hepatosplenomegaly, Leukocytosis, Skin rash, Splenomega...	OMIM:618963
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce...	ORPHA:331235
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc...	OMIM:615605
Primary Effusion Lymphoma	Abdominal pain, B-cell lymphoma, Abdominal distention	ORPHA:48686
Spastic Paraplegia 20, Autosomal Recessive	Spastic gait, Clinodactyly, Difficulty walking, Urinary urgency, Dysmetria, Ankle clonus, Kyphosc...	OMIM:275900
Contractural Arachnodactyly, Congenital	Hip contracture, Arachnodactyly, Talipes equinovarus, Short neck, Bowing of the long bones, Patel...	OMIM:121050
Slipped Femoral Capital Epiphyses	Hip osteoarthritis, Proximal femoral epiphysiolysis	OMIM:182260
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Genu recurvatum, Ataxia, Decreased testicular size, Kyphoscoliosis, Hypogonadotropic hypogonadism...	OMIM:604168
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Osteopetrosis, Autosomal Recessive 2	Mandibular osteomyelitis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosplenomegaly, Pancyt...	OMIM:259710
Cutaneous Photosensitivity And Colitis, Lethal	Colitis, Diarrhea	OMIM:219095
Atelosteogenesis, Type Ii	Increased intervertebral space, Talipes equinovarus, Short neck, Short greater sciatic notch, Fla...	OMIM:256050
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Arthrogryposis, Distal, Type 1A	Hand clenching, Joint contracture of the hand, Overlapping toe, Overlapping fingers, Cryptorchidi...	OMIM:108120
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Avascu...	OMIM:184100
Propionic Acidemia	Vomiting, Eczematoid dermatitis, Pancytopenia, Hepatomegaly, Feeding difficulties in infancy, Con...	OMIM:606054
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis, Brachydactyly, Abnormal epiphysis morphology of the phalanges of the hand	OMIM:619248
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Triokinase And Fmn Cyclase Deficiency Syndrome	Microcytic anemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Chronic diarrhea	OMIM:618805
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Proteinuria, Tubulointerstitial nephritis	OMIM:616901
Ck Syndrome	Slender build, Lumbar hyperlordosis, Joint hypermobility, Kyphoscoliosis, Long toe, Long fingers,...	ORPHA:251383
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Neopl...	ORPHA:99867
Beta-Thalassemia Major	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi...	ORPHA:231214
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
Peripheral Dysostosis	Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Kniest Dysplasia	Delayed epiphyseal ossification, Limitation of joint mobility, Recurrent otitis media, Hip contra...	OMIM:156550
Sprengel Deformity	Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s...	OMIM:184400
Li-Fraumeni Syndrome	Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia...	ORPHA:524
Cach Syndrome	Vomiting, Hepatosplenomegaly, Dysgyria, Optic neuritis, Pancreatitis, Dysphagia, Feeding difficul...	ORPHA:135
Familial Mediterranean Fever	Diarrhea, Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Ery...	ORPHA:342
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of...	OMIM:212050
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Leukopenia, Otitis media, Splenomegaly, Cryptorchidism, Erythroi...	OMIM:612541
Juberg-Hayward Syndrome	Abnormal vertebral morphology, Toe syndactyly, Short thumb, Abnormality of the wrist, Radioulnar ...	ORPHA:2319
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria	OMIM:617783
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Diarrhea, Increased circulating IgE level, Lymphopenia, Apl...	OMIM:102700
Purine Nucleoside Phosphorylase Deficiency	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Lymphoma, Impaired T cell f...	OMIM:613179
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lympha...	ORPHA:444463
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Osteomyelitis, Lymphopenia, Anemia, B lymphoc...	OMIM:614172
Tarsal-Carpal Coalition Syndrome	Distal symphalangism of hands, Radial deviation of finger, Short 1st metacarpal, Short finger, Pr...	OMIM:186570
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Abnormality of the thenar eminence, Intestinal pseudo-obstruction, A...	ORPHA:85446
Mosaic Trisomy 14	Narrow chest, Failure to thrive, Abnormal rib morphology, Camptodactyly of finger, Cryptorchidism...	ORPHA:1703
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,...	OMIM:619705
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormal ilium morphology, Genu valgum, Cleft soft palate, Metaphyseal dysplasia, Abnormality of ...	ORPHA:93316
Familial Partial Lipodystrophy, Köbberling Type	Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepatomegaly, Diabetes mel...	ORPHA:79084
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Anorexia, Nausea and vomiting, Abdominal pain, Cirrhos...	ORPHA:65682
Juberg-Hayward Syndrome	Limited elbow extension, Abnormal toe morphology, Aplasia/Hypoplasia of the thumb, Abnormality of...	OMIM:216100
Agammaglobulinemia, X-Linked	Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Epididymitis, Pyoderma, ...	OMIM:300755
Trichorhinophalangeal Syndrome, Type I	Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Narrow palate, Pectus cari...	OMIM:190350
Birk-Landau-Perez Syndrome	Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, Tu...	OMIM:617595
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic aciduria, Cardiomyopathy, Stage 5 chronic kidney disease, Cerebellar hemorrhage, Pa...	OMIM:251000
Odontochondrodysplasia 1	Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ...	OMIM:184260
Fibrochondrogenesis 2	Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Sh...	OMIM:614524
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Inflammation of the large intestine, Hepatic fibrosis, Lymphadenitis, Eczematoid de...	OMIM:615895
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra...	OMIM:615633
Hyperekplexia 4	Kyphoscoliosis, Talipes equinovarus, Distal arthrogryposis, Adducted thumb, High palate, Camptoda...	OMIM:618011
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad...	ORPHA:3392
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Platyspondyly, Thoracolumbar kyphosis, Epiphyseal dysplasia, Hypoplasia of the capital femoral ep...	OMIM:617425
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of...	ORPHA:157801
Cerebrooculofacioskeletal Syndrome 4	Abnormality of the vertebral column, Slender long bone, Camptodactyly of finger, Elbow flexion co...	OMIM:610758
Congenital Syphilis	Pneumonia, Diarrhea, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Malabsorption, ...	ORPHA:499009
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Platyspondyly, Joint stiffness, Abnormal intervertebral disk morphology, Osteoarthritis	ORPHA:1345
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Low back pain, Abnormality...	ORPHA:449427
Intermediate Uveitis	Vasculitis, Psoriasiform dermatitis, Optic neuritis, Tubulointerstitial nephritis, Anterior uveitis	ORPHA:279914
Flynn-Aird Syndrome	Joint stiffness, Increased bone density with cystic changes, Kyphoscoliosis, Ataxia, Osteoporosis...	OMIM:136300
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Skin rash, Splenomegaly, Hepatomegaly, Jaundice, Lymphadenopathy, Neutropenia, ...	OMIM:603552
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
5-Oxoprolinase Deficiency	Diarrhea, Abdominal pain, Vomiting, Enterocolitis	OMIM:260005
Trimethylaminuria	Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia	OMIM:602079
Joubert Syndrome 18	Horseshoe kidney, Trident pelvis, Kyphoscoliosis, Bowing of the long bones, Talipes equinovarus, ...	OMIM:614815
Seckel Syndrome 7	Madelung deformity, Lumbar scoliosis, Hip dysplasia, Clinodactyly of the 5th finger, Short middle...	OMIM:614851
Methylmalonic Acidemia With Homocystinuria	Lethargy, Feeding difficulties	ORPHA:26
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Broad-based gait, Tip-toe gait, Hip contracture, Knee flexion contracture, Talipes equinovarus, A...	OMIM:615290
Pyoderma Gangrenosum	Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ...	ORPHA:48104
Inflammatory Pseudotumor Of The Liver	Vomiting, Nausea, Neoplasm of the liver, Abdominal distention, Abdominal pain	ORPHA:90003
Mucolipidosis Iii Alpha/Beta	Shallow acetabular fossae, Broad ribs, Irregular carpal bones, Spondylolisthesis, Short ribs, Car...	OMIM:252600
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Pectus carinatum, Multiple rib fractures, Wormian bones, Pectus excavatum, Short l...	OMIM:259440
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi...	ORPHA:3409
Allan-Herndon-Dudley Syndrome	Decreased body mass index, Failure to thrive in infancy, Cryptorchidism, Ankle clonus, Kyphoscoli...	ORPHA:59
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Feeding difficulties...	ORPHA:3260
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Pectus carinatum, Short finger, Hip contracture, Knee flexion contracture, Tapered...	OMIM:313420
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Shigellosis	Microangiopathic hemolytic anemia, Cholestasis, Abscess, Anorexia, Abdominal pain, Intestinal per...	ORPHA:810
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Pectus carinatum, Large hands, Pectus excavatum, Scoliosis, Kyphosis, Tapered finger	ORPHA:276630
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Abnormal cortical gyration, Decreased specific anti-polysacc...	OMIM:614576
Juvenile Polyposis Of Infancy	High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage...	ORPHA:79076
Poland Syndrome	Hypoplasia of deltoid muscle, Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, ...	OMIM:173800
Developmental And Epileptic Encephalopathy 92	Lethargy, Feeding difficulties	OMIM:617829
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Fibular aplasia, Malaligned carpal bone, ...	OMIM:228900
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs	ORPHA:66630
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in r...	OMIM:600802
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Cutaneous finger syndactyly, Duplication of metatarsal bones, Kyphoscoliosis, Aplasia/Hypoplasia ...	OMIM:600384
Arthrogryposis, Distal, Type 11	Absent proximal finger flexion creases, Talipes equinovarus, Limited pronation/supination of fore...	OMIM:620019
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Atopic dermatitis, Increased circulating interleukin 6 concentra...	OMIM:618944
Lymphoproliferative Syndrome 2	Recurrent pneumonia, Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, ...	OMIM:615122
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Anoperineal fistula, Increased circulating IgE level, Leukocytosis, Pancoliti...	OMIM:618213
Immunodeficiency 58	Allergic rhinitis, Recurrent pneumonia, Verrucae, Bronchiectasis, Eczematoid dermatitis, Cutaneou...	OMIM:618131
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Pectus carinatum, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short nec...	OMIM:184095
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Joint contracture of the hand, Difficulty walking, Limited elbow move...	OMIM:300280
Ollier Disease	Platyspondyly, Precocious puberty, Micromelia, Abnormal cartilage morphology, Joint stiffness, Mu...	ORPHA:296
Rhizomelic Chondrodysplasia Punctata, Type 1	Rhizomelia, Flared metaphysis, Epiphyseal stippling, Calcific stippling of infantile cartilaginou...	OMIM:215100
Thoracomelic Dysplasia	Abnormal pelvic girdle bone morphology, Narrow chest, Elbow dislocation, Genu valgum, Bell-shaped...	ORPHA:1803
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Lymphadenopathy,...	ORPHA:98848
King-Denborough Syndrome	Failure to thrive, Bilateral cryptorchidism, Lumbar hyperlordosis, Cryptorchidism, Kyphoscoliosis...	OMIM:619542
Grfoma	Diarrhea, Nausea and vomiting, Intestinal obstruction, Parathyroid adenoma, Anorexia, Gastrointes...	ORPHA:97261
Secondary Short Bowel Syndrome	Diarrhea, Vomiting, Volvulus, Malnutrition, Villous atrophy, Abnormal small intestine morphology,...	ORPHA:95427
Peripheral Primitive Neuroectodermal Tumor	Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Anorexia, Abnormal thoracic spine ...	ORPHA:370348
Proximal Symphalangism	Synostosis of carpal bones, Finger syndactyly, Finger clinodactyly, Camptodactyly of finger, Elbo...	ORPHA:3250
Ovarian Fibrothecoma	Fibrosarcoma, Diffuse leiomyomatosis, Metrorrhagia, Hirsutism, Ovarian fibroma, Peritonitis, Abdo...	ORPHA:314478
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Hodgkin lymphoma, Decreased proportion of class-switched memory B cells, Glomerulon...	OMIM:619375
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Gastrointestinal infarctions, Malabsorption, ...	ORPHA:131
Systemic Capillary Leak Syndrome	Diarrhea, Leukocytosis, Pancreatitis, Myocarditis, Abdominal pain, Multiple myeloma, Pericarditis	ORPHA:188
Bardet-Biedl Syndrome 14	Obesity, Renal insufficiency	OMIM:615991
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infection of the gast...	OMIM:605258
Smith-Mccort Dysplasia 1	Platyspondyly, Hypoplastic scapulae, Hypoplasia of the odontoid process, Atlantoaxial instability...	OMIM:607326
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis,...	OMIM:611762
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Interphalangeal joint erosions, Hip contracture,...	OMIM:259600
Bardet-Biedl Syndrome 10	Renal cyst, Obesity, Renal insufficiency	OMIM:615987
Lipase Deficiency, Combined	Type II diabetes mellitus, Pancreatitis	OMIM:246650
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Abnormal T cell morphology, Agammagl...	OMIM:615214
Wolman Disease	Acute hepatic failure, Vomiting, Abdominal distention	OMIM:620151
Chondrocalcinosis 1	Chondrocalcinosis, Osteoarthritis	OMIM:600668
Ppoma	Gastrointestinal hemorrhage, Diarrhea, Pituitary adenoma, Adrenocortical adenoma, Subcutaneous li...	ORPHA:97278
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating renin level	OMIM:605115
Mitochondrial Neurogastrointestinal Encephalomyopathy	Gastroesophageal reflux, Diarrhea, Vomiting, Hypogonadotropic hypogonadism, Gastrointestinal dysm...	ORPHA:298
Caroli Syndrome	Hypersplenism, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choledochus morphology, He...	ORPHA:480520
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Diarrhea, Vomiting, Intestinal lymphangiectasia, Malabsorption, Intestinal obstruction, Abnormal ...	OMIM:226300
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Lymphoma, Lymphopenia, Decreas...	OMIM:208900
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Acute leukemia, Abnormal eosinophil morphology, Microcytic a...	ORPHA:906
Ichthyosis--Cheek--Eyebrow Syndrome	High palate, Abnormal thorax morphology, Kyphoscoliosis	OMIM:146720
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Diarrhea, Eczematoid dermat...	ORPHA:83471
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Short neck, Flat acetabular roo...	OMIM:271700
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Abnormal vertebral morphology, Renal hypoplasia, Increased vertebral height, Gait ataxia, Cryptor...	OMIM:616817
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Broad-based gait, Kyphosis, Inability to walk, Lumbar hyperlordosis, Obesity, Talipes equinovarus...	OMIM:616756
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Small hand, Hip dislocation, Talipes equinovarus, Short foot, Scoliosis, Kyphosis	OMIM:300434
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Immunodeficiency 92	Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta...	OMIM:619652
Zollinger-Ellison Syndrome	Diarrhea, Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Esophagitis, Intestinal ...	ORPHA:913
Osteogenesis Imperfecta	Thin ribs, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Intestinal obstru...	ORPHA:666
Developmental And Epileptic Encephalopathy 40	Lethargy, Feeding difficulties	OMIM:617065
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Diarrhea, Protracted diarrhea, Pancytopenia, Decreased proportion of CD4-...	ORPHA:572
Emanuel Syndrome	Recurrent otitis media, Cryptorchidism, Anal atresia, High palate, Dysphagia, Patent ductus arter...	ORPHA:96170
Craniodiaphyseal Dysplasia	Diaphyseal undertubulation, Abnormal rib morphology	ORPHA:1513
Serrated Polyposis Syndrome	Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P...	ORPHA:157798
Cyclic Vomiting Syndrome	Vomiting, Nausea, Lethargy, Gastrointestinal dysmotility, Anorexia, Abdominal pain	OMIM:500007
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Abnormal epiphysis morphology, Premature epimetaphyseal fusion, Polyarticular arthrit...	ORPHA:85435
Larsen-Like Syndrome	Joint dislocation, Recurrent otitis media, Radial deviation of the 4th finger, Kyphoscoliosis, Jo...	OMIM:608545
Mccune-Albright Syndrome	Increased circulating cortisol level, Increased circulating prolactin concentration, Cholestasis,...	ORPHA:562
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Inflammation of the large intestine, Reduced natural killer cell cou...	OMIM:620133
Aggressive Systemic Mastocytosis	Diarrhea, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Hematological neoplasm, Neutropenia, A...	ORPHA:98850
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Hematuria, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia,...	ORPHA:340
Glycogen Storage Disease Ib	Inflammation of the large intestine, Gout, Splenomegaly, Pancreatitis, Delayed puberty, Neutropen...	OMIM:232220
Agammaglobulinemia 3, Autosomal Recessive	Diarrhea, Recurrent otitis media, Agammaglobulinemia, Absent circulating B cells, Neutropenia, Ab...	OMIM:613501
Igg4-Related Kidney Disease	Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti...	ORPHA:449395
Classical-Like Ehlers-Danlos Syndrome Type 2	Periodontitis, Elbow dislocation, Cryptorchidism, Arachnodactyly, High palate, Long uvula, Hip di...	ORPHA:536532
Joint Laxity, Short Stature, And Myopia	Pectus carinatum, Multiple joint dislocation, Cervical kyphosis, Joint hypermobility, Kyphoscolio...	OMIM:617662
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia	OMIM:300299
Chondrodysplasia, Blomstrand Type	Abnormal vertebral morphology, Narrow chest, Micromelia, Flared metaphysis, Advanced tarsal ossif...	OMIM:215045
Spondylocostal Dysostosis 5	Pectus carinatum, Butterfly vertebrae, Low back pain, Missing ribs, Short neck, Supernumerary rib...	OMIM:122600
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota...	OMIM:300048
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Bloody diarrhea, Leukocytosis, Reticulocyt...	ORPHA:90038
Porphyria Due To Ala Dehydratase Deficiency	Depression, Diarrhea, Increased fecal coproporphyrin 3, Nausea, Apathy, Constipation, Episodic vo...	ORPHA:100924
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Decreased body weight, Talip...	OMIM:271640
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Bethlem Myopathy 2	Hip dislocation, Scoliosis, Kyphosis, Scapular winging	OMIM:616471
Satoyoshi Syndrome	Abnormal epiphysis morphology, Abnormality of the uterus, Abnormal joint morphology, Abnormality ...	ORPHA:3130
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal vertebral morphology, Acne, Inflammation of the large intestine, Abnormal epiphysis morp...	ORPHA:324964
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke...	ORPHA:2552
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Congenital hypothyroidism	ORPHA:88643
Spondylocostal Dysostosis 1, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio...	OMIM:277300
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis	OMIM:615947
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decr...	OMIM:304790
Epidermolysis Bullosa Acquisita	Abdominal pain, Inflammation of the large intestine, Diabetes mellitus	ORPHA:46487
Oculogastrointestinal Muscular Dystrophy	Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal gastric mucosa morphology, ...	ORPHA:1876
Autosomal Dominant Spondylocostal Dysostosis	Short thorax, Vertebral segmentation defect, Missing ribs, Short neck, Hyperlordosis, Abnormal ri...	ORPHA:1797
Ehlers-Danlos Syndrome, Classic Type, 1	Joint dislocation, Bowel diverticulosis, Recurrent sinusitis, Joint hypermobility, Osteoarthritis...	OMIM:130000
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s...	ORPHA:2198
Anauxetic Dysplasia 1	Platyspondyly, Atlantoaxial dislocation, Hypoplastic ilia, Rhizomelia, Short toe, Flared metaphys...	OMIM:607095
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Nausea and vomiting, Lym...	ORPHA:3226
Athyreosis	Macroglossia, Constipation, Feeding difficulties, Abdominal distention	ORPHA:95713
Gaba-Transaminase Deficiency	Lethargy, Feeding difficulties	OMIM:613163
Solitary Bone Cyst	Abnormal ilium morphology, Abnormal form of the vertebral bodies, Abnormal tibia morphology, Lyti...	ORPHA:83468
Becker Nevus Syndrome	Pectus carinatum, Micromelia, Abnormal tibia morphology, Rib fusion, Supernumerary ribs, Pectus e...	ORPHA:64755
Xanthinuria, Type Ii	Hypouricemia, Increased circulating hypoxanthine concentration, Increased urinary hypoxanthine le...	OMIM:603592
19P13.3 Microduplication Syndrome	Precocious puberty, Gastroesophageal reflux, Clinodactyly, Kyphoscoliosis, Long fingers, Hip dysp...	ORPHA:447980
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Platyspondyly, Epiphyseal dysplasia, Hypoplastic ilia, Osteopenia, Flared metaphysis, Carpal syno...	OMIM:615349
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgG level, Decre...	ORPHA:169154
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Clinodactyly, Eczematoid d...	OMIM:618348
Loeys-Dietz Syndrome 5	Cleft soft palate, Arachnodactyly, Talipes equinovarus, Eosinophilic infiltration of the esophagu...	OMIM:615582
Combined Oxidative Phosphorylation Deficiency 52	Adrenal insufficiency, Pancreatitis, Hepatic steatosis, Anorexia	OMIM:619386
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Diarrhea, Abdominal pain, Vomiting, Pancreatitis	OMIM:620137
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Platyspondyly, Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Abnormal clavicle morphol...	ORPHA:93267
Obesity	Obesity, Increased waist to hip ratio	OMIM:601665
Acrorenal-Mandibular Syndrome	Thin ribs, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula...	OMIM:200980
Waardenburg Syndrome	Premature graying of hair, Abnormal eyebrow morphology, White forelock, Intestinal obstruction, A...	ORPHA:3440
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Barrel-shaped chest, ...	OMIM:143095
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Tubulointerstitial nep...	ORPHA:488627
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma...	ORPHA:485
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Hip dislocation, Rhizomelia, Abnormal epiphysis morphology, Abnor...	ORPHA:3098
Anauxetic Dysplasia 2	Posterior wedging of vertebral bodies, Hypoplasia of the femoral head, Cubitus valgus, Short neck...	OMIM:617396
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic i...	OMIM:151210
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Small scrotum, Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Hypog...	ORPHA:2234
Iga Pemphigus	Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul...	ORPHA:555905
Orofaciodigital Syndrome Xi	Hypoplasia of the odontoid process, Gastroesophageal reflux, Kyphoscoliosis, Postaxial polydactyl...	OMIM:612913
Visceral Myopathy, Familial, With External Ophthalmoplegia	Malnutrition, Gastroparesis, Abdominal distention, Abdominal pain, Spontaneous esophageal perfora...	OMIM:277320
Wiskott-Aldrich Syndrome 2	Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati...	OMIM:614493
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Diarrhea, Hemophagocytosis, Vomiting, Fasciitis,...	ORPHA:39812
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Diarrhea, Recurrent otitis media, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Splenomeg...	OMIM:618495
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferation in respo...	ORPHA:35078
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure...	OMIM:300539
Bardet-Biedl Syndrome 18	Obesity, Stage 5 chronic kidney disease, Renal insufficiency	OMIM:615995
Mahvash Disease	Type II diabetes mellitus, Recurrent pancreatitis, Abdominal pain, Pancreatic alpha-cell hyperpla...	OMIM:619290
Borjeson-Forssman-Lehmann Syndrome	Hypoplasia of the prostate, Shortening of all middle phalanges of the fingers, Short toe, Cervica...	OMIM:301900
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Aortic valve stenosis, Enuresis, Abnormality of the kidney	ORPHA:459061
Spondylocostal Dysostosis 2, Autosomal Recessive	Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae	OMIM:608681
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Abnormal circulating interleukin concentration, Increased circulating interf...	ORPHA:542323
Nail-Patella Syndrome	Abnormal tibia morphology, Contracture of the distal interphalangeal joint of the fingers, Patell...	ORPHA:2614
Coccidioidomycosis	Morbilliform rash, Abnormality of the spleen, Abscess, Erythema nodosum, Folliculitis, Granuloma,...	ORPHA:228123
X-Linked Intellectual Disability, Stocco Dos Santos Type	Congenital bilateral hip dislocation, Talipes equinovarus, Small for gestational age, Kyphosis	ORPHA:85288
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Gastroesophageal reflux, Increased circulating IgE level, Eosinophilic infiltr...	OMIM:620532
Pancreas, Annular	High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	High intestinal obstruction, Duodenal stenosis	ORPHA:675
Basal Cell Nevus Syndrome 1	Palmar pits, Short distal phalanx of the thumb, Sprengel anomaly, Vertebral wedging, Polydactyly,...	OMIM:109400
Necrobiosis Lipoidica	Abnormality of neutrophil physiology, Inflammatory abnormality of the skin, Granuloma, Abnormalit...	ORPHA:542592
Glucagonoma	Gastrointestinal hemorrhage, Depression, Pituitary adenoma, Adrenocortical adenoma, Abnormal gast...	ORPHA:97280
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Pectus carinatum, Joint stiffness, Bilateral single transverse palmar creases, Arachnodactyly, Ab...	ORPHA:1548
Ethylene Glycol Poisoning	Renal insufficiency, Hypocalcemia, Renal tubular dysfunction, Hematuria, Decreased urine output, ...	ORPHA:31826
Musculocontractural Ehlers-Danlos Syndrome	Atlantoaxial dislocation, Recurrent joint dislocation, Cryptorchidism, High palate, Recurrent ski...	ORPHA:2953
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Diarrhea, Lymphopenia, Hepatosplenomegaly, Abnormal intesti...	ORPHA:391487
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Papillary renal cell carci...	OMIM:145001
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res...	ORPHA:331206
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long penis, Abnormal rib...	ORPHA:1988
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog...	ORPHA:3344
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruction, Per...	ORPHA:343
Brachydactyly, Type B2	Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor...	OMIM:611377
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Elbow flexion contracture, Hip contracture, Knee flexion contracture, Talipes equinovarus, Hyperl...	OMIM:600175
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Diarrhea, Recurrent otitis media, Lymphopenia, Decreased pro...	OMIM:301000
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Normocytic anemia, Sterile pyuria, Beta 2-microglobulinuria, Elevated circulating ...	ORPHA:91500
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Diarrhea, Recurrent aphthous stomatitis, Splenomegal...	OMIM:150550
Intellectual Developmental Disorder, X-Linked 19	Scoliosis, Small for gestational age, Kyphoscoliosis	OMIM:300844
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubular acidosis	OMIM:179830
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Recurrent pneu...	OMIM:617718
Somatostatinoma	Gastrointestinal hemorrhage, Diarrhea, Pituitary adenoma, Adrenocortical adenoma, Subcutaneous li...	ORPHA:97283
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Short neck, Camptodactyly, Rocker bottom foot, Kyphosis	OMIM:618393
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Hyper-Igd Syndrome	Neutrophilia, Diarrhea, Lymphadenitis, Vomiting, Hepatosplenomegaly, Leukocytosis, Skin rash, Spl...	OMIM:260920
Brachyolmia Type 3	Platyspondyly, Radial deviation of finger, Clinodactyly, Short femoral neck, Proximal femoral met...	OMIM:113500
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development	Pectus carinatum, Vertebral wedging, Irregular femoral epiphysis, Genu valgum, Bell-shaped thorax...	OMIM:255710
Ruvalcaba Syndrome	Small hand, Narrow chest, Micromelia, Limited elbow extension, Cryptorchidism, Short phalanx of f...	OMIM:180870
Isolated Klippel-Feil Syndrome	Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio...	ORPHA:2345
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas...	OMIM:609057
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Hypoplastic cervical vertebrae, Elbow dislocation, Knee dislocation, Small epiphyses, Lumbar scol...	OMIM:620269
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Thoracolumbar kyphosis, Joint hypermobility, Kyphoscoliosis	OMIM:236660
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy	OMIM:618573
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Extramedullary hematopoiesis, Cholestasis, Hepatic steatos...	ORPHA:79303
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal vertebral morphology, Subluxation of the small joints of the hand, Dysplasia of the femo...	ORPHA:536471
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating IgG level, Decreased circulating IgA level, Single transverse palmar crease...	OMIM:300861
Mucopolysaccharidosis, Type Ix	Bifid uvula, Chondrocalcinosis, Popliteal synovial cyst, Recurrent otitis media, Wrist hypermobil...	OMIM:601492
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Type I diabetes mellitus, Hemophago...	OMIM:301078
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hyperbilirubinemia, Hodgkin lymphoma, Acute myeloid leukemia, Hematological neoplasm, Elevated ci...	ORPHA:158057
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Inability to walk, Joint contracture, Kyphoscoliosis	OMIM:617977
Congenital Arthrogryposis With Anterior Horn Cell Disease	Hand clenching, Arthrogryposis multiplex congenita, Difficulty walking, Inability to walk, Crypto...	OMIM:611890
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas...	ORPHA:2260
Ovarian Fibroma	Ovarian fibroma, Peritonitis, Odontogenic keratocysts of the jaw, Abdominal distention, Basal cel...	ORPHA:314473
Classic Galactosemia	Hepatic failure, Depression, Diarrhea, Vomiting, Feeding difficulties, Lethargy, Decreased fertil...	ORPHA:79239
Paget Disease Of Bone 6	Nephrocalcinosis, Recurrent fractures, Osteoarthritis	OMIM:616833
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Platyspondyly, Thin ribs, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calc...	ORPHA:163966
Thrombotic Thrombocytopenic Purpura, Hereditary	Abnormal renal physiology, Microangiopathic hemolytic anemia, Elevated circulating creatinine con...	OMIM:274150
Cocaine Intoxication	Acute kidney injury, Diffuse alveolar hemorrhage, Hypotension, Ventricular arrhythmia, Prolonged ...	ORPHA:90068
Autoinflammatory Disease, Systemic, With Vasculitis	Diarrhea, Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Hepatomegaly, Jaundice...	OMIM:620376
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Cone-shaped epiphyses of the middle phalanges of the hand, Short distal phalanx of finger, Distal...	OMIM:606895
Mucopolysaccharidosis, Type Iva	Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Short neck, Anterior bea...	OMIM:253000
Charcot-Marie-Tooth Disease, Type 4B2	Ulnar claw, Difficulty walking, Kyphoscoliosis, Talipes equinovarus, Steppage gait, Split hand, H...	OMIM:604563
Coffin-Siris Syndrome 6	High, narrow palate, Gastroesophageal reflux, Clinodactyly, Kyphoscoliosis, Wormian bones, Brachy...	OMIM:617808
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Broad clavicles, Carpal osteolysis, Abnormal form of the vertebral bodies, Pterygium,...	ORPHA:371428
Amoebiasis Due To Entamoeba Histolytica	Diarrhea, Protracted diarrhea, Bloody diarrhea, Leukocytosis, Intestinal obstruction, Constrictiv...	ORPHA:67
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Wrist swelling, Camptodactyly of finger, Lumbar hyperlordosis, Polya...	ORPHA:2848
Leukodystrophy, Hypomyelinating, 17	Inability to walk, Flexion contracture, Kyphoscoliosis	OMIM:618006
Sandhoff Disease	Hepatomegaly, Kyphosis, Splenomegaly	ORPHA:796
Central Core Disease	Congenital hip dislocation, Multiple joint contractures, Joint hypermobility, Kyphoscoliosis, Tal...	ORPHA:597
Chondrodysplasia Punctata 2, X-Linked Dominant	Abnormal pelvic girdle bone morphology, Rhizomelia, Failure to thrive, Punctate vertebral calcifi...	OMIM:302960
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, A...	ORPHA:3082
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Joint hypermobility, Small thenar eminence, Scapular winging, Osteoarthritis, Bronchiectasis	OMIM:620080
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Platyspondyly, Thin ribs, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Rhizomelia, Di...	OMIM:300863
Brachydactyly Type B	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty...	ORPHA:93383
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Familial Partial Lipodystrophy, Dunnigan Type	Hepatic steatosis, Splenomegaly, Polycystic ovaries, Pancreatitis, Hepatomegaly, Diabetes mellitus	ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Cirrhos...	ORPHA:79083
Common Variable Immunodeficiency	Pneumonia, Bronchiectasis, Lymphoma, Lymphopenia, Abnormality of the liver, Decreased circulating...	ORPHA:1572
Chromosome 2P16.1-P15 Deletion Syndrome	High, narrow palate, Joint contracture of the hand, Hypogonadism, Decreased testicular size, Cryp...	OMIM:612513
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Camptodactyly of finger, Kyphoscoliosis, Micropenis, Rocker bottom foot, Small for...	OMIM:610756
Relapsing Fever	Acute kidney injury, Abnormality of the urinary system, Increased total bilirubin, Elevated circu...	ORPHA:91547
Spinocerebellar Ataxia, Autosomal Recessive 20	Clinodactyly, Oligosacchariduria, Inability to walk, Kyphoscoliosis, Talipes equinovarus, Brachyd...	OMIM:616354
Hereditary Central Diabetes Insipidus	Diarrhea, Lethargy, Vomiting	ORPHA:30925
Foxg1 Syndrome	Gastroesophageal reflux, Difficulty walking, Inability to walk, Decreased body weight, Kyphoscoli...	ORPHA:561854
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Genu varu...	OMIM:271510
Igg4-Related Ophthalmic Disease	Thyroiditis, Keratitis, Retroperitoneal fibrosis, Lymphoma, Increased circulating IgE level, Incr...	ORPHA:449563
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Diarrhea, Leukocytosis, Skin rash, Chronic diarrhea, Increased proportion of CD4-positive T cells...	OMIM:617099
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Hyperechogenic kidneys, Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, R...	OMIM:301110
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No...	OMIM:613470
Congenital Tufting Enteropathy	Vomiting, Secretory diarrhea, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnor...	ORPHA:92050
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Sarcoma, Mediastinal lymphadenopathy	ORPHA:66661
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Preeclampsia	Chronic kidney disease, Acute kidney injury, Elevated circulating creatinine concentration, Renal...	ORPHA:275555
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Slender finger, Broad-based gait, Clinodactyly, Kyphoscoliosis, Down-sloping shoulders, Joint hyp...	ORPHA:391408
Central Diabetes Insipidus	Diarrhea, Depression, Nausea and vomiting, Lethargy, Anorexia	ORPHA:178029
Secondary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Vomiting, Abdominal colic,...	ORPHA:90363
Sweet Syndrome	Inflammation of the large intestine, Acne inversa, Neoplasm, Predominantly dermal neutrophilic in...	ORPHA:3243
Multiple Osteochondromas	Rib exostoses, Abnormal tibia morphology, Abnormal hand morphology, Genu valgum, Bowing of the lo...	ORPHA:321
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu...	OMIM:602522
X-Linked Dominant Chondrodysplasia Punctata	Hypoplastic cervical vertebrae, Upper limb asymmetry, Epiphyseal stippling, High palate, Kyphosco...	ORPHA:35173
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Congenital hip dislocation, Pectus carinatum, Dislocation of the femoral head, Cryptorchidism, Hy...	OMIM:619797
Zimmermann-Laband Syndrome 3	Short distal phalanx of finger, Aplasia of the distal phalanx of the 5th toe, Kyphosis, Clinodact...	OMIM:618658
3M Syndrome	Thin ribs, Short neck, Hypoplastic ischia, Abnormality of the elbow, Increased vertebral height, ...	ORPHA:2616
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee os...	ORPHA:93356
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Synovial lining hyperplasia, Arthropathy, Constrictive pericarditis, Generalized morning stiffnes...	OMIM:208250
Charcot-Marie-Tooth Disease Type 4D	Distal upper limb muscle weakness, Inability to walk, Kyphoscoliosis, Split hand, Unsteady gait, ...	ORPHA:99950
Multiple Synostoses Syndrome 1	Carpal synostosis, Cutaneous finger syndactyly, Lower limb undergrowth, Proximal/middle symphalan...	OMIM:186500
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie...	OMIM:618019
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody...	OMIM:619846
Clark-Baraitser syndrome	Genu recurvatum, Exaggerated median tongue furrow, Obesity, Genu valgum, Joint hypermobility, Mac...	OMIM:300602
Porphyria, Acute Intermittent	Diarrhea, Depression, Vomiting, Paralytic ileus, Nausea, Constipation, Abdominal pain, Hepatocell...	OMIM:176000
Lethal Infantile Mitochondrial Myopathy	Lethargy, Fatal liver failure in infancy	ORPHA:254857
Neuropathy, Hereditary Sensory And Autonomic, Type V	Urinary incontinence, Painless fractures due to injury, Osteomyelitis, Arthropathy, Low back pain...	OMIM:608654
Campomelic Dysplasia	Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Hypoplastic cervical vertebrae,...	OMIM:114290
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Ataxia, Pectus carinatum, Eczematoid dermatitis, Failure to thrive, Hip dysplasia, Kyphosis	OMIM:620007
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Small hand, Clinodactyly, Ankyloglossia, Overlapping toe, Bilateral single transverse palmar crea...	ORPHA:488642
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Abnormal rib cage morphology, Abnormality of carpal bone ossification, Genu valgum, Long thorax, ...	OMIM:608154
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Wolman Disease	Hepatic failure, Malnutrition, Nausea and vomiting, Abdominal distention, Steatorrhea, Esophageal...	ORPHA:75233
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Broad-based gait, Long hallux, Cryptorchidism, Narrow palm, Talipes equinovarus, Short neck, Hype...	OMIM:309583
Thanatophoric Dysplasia, Type Ii	Platyspondyly, Hypoplastic ilia, Small abnormally formed scapulae, Narrow chest, Micromelia, Flar...	OMIM:187601
Gonadoblastoma	Ovarian gonadoblastoma, Hirsutism, Abdominal distention, Abdominal pain, Dysgerminoma	ORPHA:206484
Immunodeficiency 46	Decreased circulating antibody level, Neutropenia, Chronic oral candidiasis, Anemia, Conjunctivit...	OMIM:616740
Congenital Enterocyte Heparan Sulfate Deficiency	Protein-losing enteropathy, Diarrhea, Hematochezia, Abdominal distention	ORPHA:103910
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Cryptorchidism, Kyphoscoliosis, Arachnodactyly, Joint hypermobility, Long toe, Palmop...	ORPHA:75496
Stormorken Syndrome	Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen	OMIM:185070
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
13Q12.3 Microdeletion Syndrome	Atopic dermatitis, Failure to thrive, Obesity, Cryptorchidism, Kyphoscoliosis, Hip dysplasia, Cam...	ORPHA:412035
Inflammatory Bowel Disease 25, Autosomal Recessive	Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ...	OMIM:612567
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Hydroureter, Ureterocele, Urinary retention, Recurrent urinary trac...	ORPHA:79404
Whim Syndrome 1	Decreased circulating IgG level, Verrucae, Neutropenia, Decreased circulating antibody level, Bro...	OMIM:193670
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Abdominal colic, Liver abscess, Chol...	ORPHA:69663
Acrootoocular Syndrome	High, narrow palate, Small hypothenar eminence, Small for gestational age, Short toe, Sandal gap,...	ORPHA:2980
Morgagni-Stewart-Morel Syndrome	Obesity, Osteoarthritis, Osteoporosis, Acne, Hyperostosis frontalis interna	ORPHA:77296
Glut1 Deficiency Syndrome 1	Paroxysmal lethargy, Lethargy	OMIM:606777
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Finger clinodactyly, Cryptorchidism, Supernumerary ribs, Patellar subluxation, Bilateral talipes ...	ORPHA:2958
Steel Syndrome	Carpal synostosis, Lumbar hyperlordosis, Limited elbow extension, Coxa vara, Clinodactyly of the ...	OMIM:615155
Pontocerebellar Hypoplasia, Type 6	Gastroesophageal reflux, Lethargy, Narrow palate, Feeding difficulties, Poor suck	OMIM:611523
Autosomal Recessive Spondylocostal Dysostosis	Hypospadias, Abnormal form of the vertebral bodies, Finger syndactyly, Camptodactyly of finger, A...	ORPHA:2311
Alkaptonuria	Aminoaciduria, Joint dislocation, Elevated urinary homogentisic acid, Calcification of cartilage,...	ORPHA:56
Short Chain Acyl-Coa Dehydrogenase Deficiency	Lethargy, Feeding difficulties	ORPHA:26792
Hereditary Chronic Pancreatitis	Leukocytosis, Pancreatic calcification, Recurrent pancreatitis, Abdominal pain, Jaundice, Diabete...	ORPHA:676
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni...	OMIM:613095
Lethal Kniest-Like Dysplasia	Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Abnormal cartilage morphology, ...	ORPHA:2347
Bruck Syndrome 1	Platyspondyly, Pectus carinatum, Ankle flexion contracture, Vertebral wedging, Elbow flexion cont...	OMIM:259450
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Joint hypermobility, Osteopenia, Kyphoscoliosis	ORPHA:300179
Hemochromatosis, Type 4	Impotence, Osteoarthritis	OMIM:606069
Hemochromatosis, Type 2A	Azoospermia, Hypogonadotropic hypogonadism, Lethargy, Amenorrhea, Infertility	OMIM:602390
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233710
Insulin-Resistance Syndrome Type B	Pneumonia, Nephritis, Glycosuria, Abnormality of body weight, Skin rash, Polycystic ovaries, Enla...	ORPHA:2298
Sepsis In Premature Infants	Diarrhea, Abdominal distention, Vomiting, Decreased liver function, Functional abnormality of the...	ORPHA:90051
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Abnormal hip bone morphology, Short neck, Hyperlordosis, Abnormal r...	ORPHA:2522
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi...	ORPHA:443811
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Hyperlysinuria With Hyperammonemia	Lethargy, Malabsorption	OMIM:238750
Three M Syndrome 2	Thin ribs, Short 5th finger, Pectus carinatum, Clinodactyly, Slender long bone, Lumbar hyperlordo...	OMIM:612921
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Arthrogryposis multiplex congenita, Clinodactyly, Bell-shaped thorax, Cryptorchidism, Single tran...	ORPHA:178148
Multiple Synostoses Syndrome 2	Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact...	OMIM:610017
Schaaf-Yang Syndrome	Small hand, Rocker bottom foot, Arthrogryposis multiplex congenita, Clinodactyly, Gastroesophagea...	OMIM:615547
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Talipes equinovarus, Scoliosis, Kyphosis, Upper limb amyotrophy	OMIM:617087
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:235400
Kimura Disease	Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ...	ORPHA:482
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Generalized osteoporosis, Homocystinuria, Pectus carinatum, Limitation of joint mobility, Failure...	OMIM:236200
Brachydactyly Type B2	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ...	ORPHA:140908
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Type I diabetes mellitus, Abdominal distention, Jejunoileal ulceration, Hepat...	ORPHA:436252
Lead Poisoning	Chronic kidney disease, Skin rash, Renal tubular dysfunction, Tubulointerstitial nephritis, Hyper...	ORPHA:330015
Mucopolysaccharidosis Type 4	Platyspondyly, Pectus carinatum, Joint dislocation, Abnormal epiphysis morphology, Abnormal rib m...	ORPHA:582
Proteus Syndrome	Mandibular hyperostosis, Facial hyperostosis, Kyphoscoliosis, Thin bony cortex, Calvarial hyperos...	OMIM:176920
Leishmaniasis	Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increased circulating ant...	ORPHA:507
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Neutropenia, Hypoparathyroidism, Hepatomegaly, Hypoplastic splee...	ORPHA:699
Rahman Syndrome	Camptodactyly, Talipes equinovarus, Cryptorchidism, Kyphoscoliosis	OMIM:617537
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology,...	ORPHA:2639
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Ulnar claw, Kyphoscoliosis, Steppage gait, Split hand, Hammertoe	OMIM:118220
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Vomiting, Short neck, Abdominal pain, High palate, Necrotizing enterocolitis, Feeding difficulties	OMIM:616809
Brown-Vialetto-Van Laere Syndrome 2	Organic aciduria, Kyphoscoliosis, Split hand, Ataxia, Scoliosis, Dysphagia	OMIM:614707
Cystic Fibrosis	Diarrhea, Exocrine pancreatic insufficiency, Ileus, Rectal prolapse, Steatorrhea, Meconium ileus,...	OMIM:219700
Sandifer Syndrome	Gastroesophageal reflux, Abnormal posturing, Esophagitis, Hiatus hernia, Hematemesis, Episodic vo...	ORPHA:71272
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Gastroesophageal reflux, Abnormal form of the vertebral b...	ORPHA:1834
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atlantoaxial dislocation, Dysplasia of the femoral head, Arachnodactyly, Radioulnar synostosis, T...	ORPHA:536467
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ...	ORPHA:1275
Visceral Myopathy 1	Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad...	OMIM:155310
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal rib morphology	ORPHA:1506
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade...	ORPHA:100024
Gastritis, Familial Giant Hypertrophic	Giant hypertrophic gastritis	OMIM:137280
Hajdu-Cheney Syndrome	Genu valgum, Fibular bowing, Cryptorchidism, Crowded carpal bones, Short neck, Dislocated radial ...	OMIM:102500
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Tongue atrophy, Hypermobility of distal interphalangeal joints, Elbow...	OMIM:615065
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Hypoplastic iliac wing, Carpal bone hypoplasia, Short neck, Shor...	OMIM:611717
Charcot-Marie-Tooth Disease Type 1A	Gait imbalance, Gait disturbance, Kyphoscoliosis	ORPHA:101081
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Broad thumb, Short neck, Radial head subluxation, Advanced ossification of ...	OMIM:615777
Alport Syndrome 2, Autosomal Recessive	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:203780
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233690
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Anemia, Hyperkalemia	OMIM:620366
Heme Oxygenase 1 Deficiency	Nephritis, Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocy...	OMIM:614034
Osteogenesis Imperfecta, Type Xi	Osteopenia, Vertebral wedging, Increased susceptibility to fractures, Biconcave vertebral bodies,...	OMIM:610968
49,Xyyyy Syndrome	Short 5th finger, Finger clinodactyly, Bridged palmar crease, Radioulnar synostosis, Cubitus valg...	ORPHA:99330
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Trans...	OMIM:619707
Spondyloenchondrodysplasia With Immune Dysregulation	Platyspondyly, Pneumonia, Metaphyseal irregularity, Rheumatoid arthritis, Short iliac bones, Recu...	OMIM:607944
Silver-Russell Syndrome	Precocious puberty, Abnormal male external genitalia morphology, Gastroesophageal reflux, Abnorma...	ORPHA:813
Warburg Micro Syndrome 3	Small scrotum, Narrow palate, Inability to walk, Decreased testicular size, Ankle clonus, Kyphosc...	OMIM:614222
Congenital Contractural Arachnodactyly	Congenital kyphoscoliosis, Congenital contracture, Arthrogryposis multiplex congenita, Camptodact...	ORPHA:115
Aneurysm-Osteoarthritis Syndrome	Bifid uvula, Pectus carinatum, Camptodactyly of finger, Osteochondritis dissecans, Spondylolisthe...	ORPHA:284984
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Increased circulating antibody leve...	ORPHA:99826
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Lymphadenopathy, Arthritis, Anemia, Uv...	OMIM:607115
Roussy-Levy Hereditary Areflexic Dystasia	Gait ataxia, Hammertoe, Kyphoscoliosis	OMIM:180800
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Diarrhea, Vomiting, Lethargy, Reye syndrome-like episodes, Nausea, Myelodysplasia, Feeding diffic...	ORPHA:927
Cardiac-Valvular Ehlers-Danlos Syndrome	Genu recurvatum, Joint dislocation, Sandal gap, Recurrent shoulder dislocation, Genu valgum, Kyph...	ORPHA:230851
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Short foot, Hypospadias,...	ORPHA:93357
Gaucher Disease Type 1	Osteopenia, Cholelithiasis, Erlenmeyer flask deformity of the femurs, Pathologic fracture, Increa...	ORPHA:77259
Omenn Syndrome	Pneumonia, Lymphoma, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eo...	ORPHA:39041
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Joint dis...	ORPHA:2097
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver function, Sidero...	OMIM:617021
Colonic Atresia	Peptic ulcer, Abdominal distention, Colonic atresia, Duodenal stenosis	ORPHA:1198
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating IgE level, Hepa...	OMIM:606367
Chondrodysplasia With Joint Dislocations, Gpapp Type	Coronal craniosynostosis, Patellar dislocation, Short toe, Knee dislocation, Genu valgum, Limited...	OMIM:614078
Achondroplasia	Thoracolumbar kyphosis, Hip joint hypermobility, Rhizomelia, Thoracic hypoplasia, Cervical spinal...	ORPHA:15
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Ataxia, Kyphoscoliosis	OMIM:619099
Glycoprotein Storage Disease	Gout	OMIM:232900
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Abnormality of the cervical spine, Superior rib anomalies	OMIM:307500
Syndromic X-Linked Intellectual Disability 7	Micropenis, Obesity, Hypoplasia of penis	ORPHA:85274
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Reduced natural killer cell count, Decreased circulating ...	OMIM:619752
Immunodeficiency 7	Diarrhea, Recurrent otitis media, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, L...	OMIM:615387
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Glucose/Galactose Malabsorption	Hyperactive bowel sounds, Malabsorption, Chronic diarrhea, Abdominal distention	OMIM:606824
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Decreased circula...	OMIM:301081
Alpha-Mannosidosis	Synostosis of joints, Narrow palate, Craniofacial hyperostosis, Bowing of the long bones, Short n...	ORPHA:61
Crisponi/Cold-Induced Sweating Syndrome 1	Keratitis, Radial deviation of finger, Elbow flexion contracture, Limited elbow extension, Kyphos...	OMIM:272430
Ruvalcaba Syndrome	Pectus carinatum, Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Narr...	ORPHA:3121
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Uveitis, Diarrhea, Gastrointestinal infarctions, Episcleritis, Skin ...	ORPHA:727
Acropectorovertebral Dysplasia	Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt...	ORPHA:957
Müllerian Aplasia And Hyperandrogenism	Abnormal vagina morphology, Abnormality of the ovary, Obesity, Cubitus valgus, Short neck, Brachy...	ORPHA:247768
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration, Abnormal renal corticomedullary differentiation, R...	OMIM:616733
X-Linked Agammaglobulinemia	Recurrent pneumonia, Hepatitis, Osteomyelitis, Neoplasm, Malabsorption, Skin rash, Chronic diarrh...	ORPHA:47
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Bilateral single transverse palmar creases, Decreased circulating antibody level, Scoliosis, Kyph...	ORPHA:85317
Fibrochondrogenesis 1	Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Sho...	OMIM:228520
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy	OMIM:613710
Ciliary Dyskinesia, Primary, 53	Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Chronic sinusitis, Hypoplastic spleen	OMIM:620642
Intellectual Developmental Disorder, X-Linked 111	Unsteady gait, Kyphoscoliosis	OMIM:301107
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Lethargy, Bradykinesia	OMIM:618683
Idiopathic Congenital Hypothyroidism	Macroglossia, Lethargy, Constipation, Feeding difficulties in infancy	ORPHA:95717
Msh3-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the skin, Thyroid adenoma, Colon cancer, Stomach cancer, Juvenile gastrointestinal po...	ORPHA:480536
Arima Syndrome	Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R...	OMIM:243910
Lysinuric Protein Intolerance	Diarrhea, Vomiting, Hemophagocytosis, Malnutrition, Leukopenia, Splenomegaly, Hepatomegaly, Pancr...	OMIM:222700
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Dysmetria, Abnormality of the cervical spine, Hypogonadotropic hypogonadism, Finger joint...	ORPHA:48431
Thyroid Dyshormonogenesis 1	Macroglossia, Lethargy, Constipation	OMIM:274400
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased blood urea nitrogen, Failure to thrive	OMIM:617872
Dihydrolipoamide Dehydrogenase Deficiency	Lethargy, Feeding difficulties, Decreased liver function	OMIM:246900
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Recurrent pneumonia, Microcytic anemia, Hepatosplenomegaly, Short neck, Hypothyroidism, Lymphaden...	OMIM:619750
Dubowitz Syndrome	Anal stenosis, Sparse lateral eyebrow, Lymphoma, Fine hair, Neoplasm, Malabsorption, Chronic diar...	ORPHA:235
Gracile Bone Dysplasia	Ankyloglossia, Asplenia, Hypoplastic spleen	OMIM:602361
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal myeloid leukocyte morphology, Inflammation of the large intestine, Diarrhea, Periodontit...	ORPHA:79259
Autism Spectrum Disorder Due To Auts2 Deficiency	Joint contracture of the hand, Small for gestational age, Congenital contracture, Eczematoid derm...	ORPHA:352490
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Diarrhea, Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Abn...	ORPHA:54251
Arthrogryposis, Distal, Type 4	Osteopenia, Camptodactyly of 2nd-5th fingers, Deviation of the 2nd toe, Fibular deviation of toes...	OMIM:609128
Systemic Mastocytosis With Associated Hematologic Neoplasm	Diarrhea, Chronic lymphatic leukemia, Hematological neoplasm, Acute myeloid leukemia, Neutrophili...	ORPHA:98849
Weismann-Netter Syndrome	Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Squared iliac bones, Scoliosis, Kyphos...	OMIM:112350
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Steppage gait, Kyphoscoliosis	OMIM:605588
Cystic Fibrosis	Depression, Gastroesophageal reflux, Meconium ileus, Exocrine pancreatic insufficiency, Malabsorp...	ORPHA:586
Mohr-Tranebjaerg Syndrome	Dysphagia, Abnormal posturing	OMIM:304700
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Bone marrow hypocellularity, Enterocolitis, Decreased pineal volume	OMIM:301108
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis, Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, De...	OMIM:610475
Igg4-Related Aortitis	Abdominal pain, Intestinal obstruction	ORPHA:449400
Arthrogryposis, Distal, Type 2B1	Rocker bottom foot, Arthrogryposis multiplex congenita, Camptodactyly of finger, Ulnar deviation ...	OMIM:601680
Masa Syndrome	Adducted thumb, Talipes equinovarus, Kyphosis, Hyperlordosis	OMIM:303350
Hypertrophic Neuropathy Of Dejerine-Sottas	Ulnar claw, Broad-based gait, Kyphoscoliosis, Steppage gait, Split hand, Scoliosis, Hammertoe	OMIM:145900
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Marshall-Smith Syndrome	Atlantoaxial dislocation, Hypoplasia of the odontoid process, Aspiration pneumonia, Cryptorchidis...	OMIM:602535
Linear Iga Dermatosis	Renal neoplasm, Inflammation of the large intestine, Bladder neoplasm	ORPHA:46488
Epiphyseal Dysplasia, Baumann Type	Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ...	OMIM:610797
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci	OMIM:233670
Familial Mediterranean Fever	Diarrhea, Vomiting, Erysipelas, Leukocytosis, Splenomegaly, Chronic constipation, Crohn's disease...	OMIM:249100
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Ulnar claw, Kyphoscoliosis, Steppage gait, Split hand, Hammertoe	OMIM:118200
Spondyloepiphyseal Dysplasia Congenita	Dysplasia of the femoral head, Genu valgum, Barrel-shaped chest, Limited elbow movement, Short ne...	ORPHA:94068
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Secondary amenorrhea, Short toe, Decreased testicular size, Obesity, Cryptorchidism, Polycystic o...	ORPHA:3085
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal vertebral morphology, Elevated circulating luteinizing hormone level, Hypoplastic scapul...	ORPHA:95699
Celiac Disease, Susceptibility To, 1	Alopecia, Depression, Diarrhea, Vomiting, Lymphoma, Infertility, Recurrent aphthous stomatitis, A...	OMIM:212750
Trichohepatoenteric Syndrome 2	Diarrhea, Villous atrophy, Cirrhosis, Chronic hepatitis, Hepatomegaly, Colitis, Chronic diarrhea,...	OMIM:614602
Polyembryoma	Irregular menstruation, Gonadal neoplasm, Neoplasm of head and neck, Abdominal distention, Abdomi...	ORPHA:180229
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Shuffling gait, Obesity, Kyphoscoliosis, Macroorchidism	ORPHA:3077
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Hepatosplenomegaly, Hemolytic anemia, Portal hypertension, Chilblains, Hepatic ...	OMIM:619487
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Hypospadias, Gastroesophageal reflux, Enuresis, Volvulus, Horseshoe kidney, Py...	OMIM:301111
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612783
Boutonneuse Fever	Diarrhea, Cervical lymphadenopathy, Leukopenia, Skin rash, Nausea, Lymphadenopathy, Thrombocytope...	ORPHA:83313
Osteopetrosis, Autosomal Recessive 5	Hepatic failure, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Sp...	OMIM:259720
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma...	OMIM:106300
De Barsy Syndrome	Congenital hip dislocation, Osteopenia, Failure to thrive, Cryptorchidism, Kyphoscoliosis, Genera...	ORPHA:2962
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Diarrhea, Brain abscess, Vomiting, Secretory diarrhea, Bloody diarrhea, Gastrointestin...	ORPHA:544482
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ...	ORPHA:96334
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Small pituitary gland, Kyphoscoliosis, Hypogonadotropic hypogonadism, Ulnar deviation of the hand...	OMIM:612079
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus	OMIM:608600
Gitelman Syndrome	Urinary incontinence, Ventricular fibrillation, Tubulointerstitial nephritis, Prolonged PR interv...	ORPHA:358
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Abdominal distention	OMIM:174050
Congenital Nephrotic Syndrome, Finnish Type	Proteinuria, Nephrotic syndrome, Elevated amniotic fluid alpha-fetoprotein, Abnormal renal tubule...	ORPHA:839
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan...	OMIM:603471
X-Linked Intellectual Disability, Cabezas Type	Small hand, Toe syndactyly, Broad-based gait, Sandal gap, Camptodactyly of finger, Hypogonadism, ...	ORPHA:85293
Diarrhea 5, With Tufting Enteropathy, Congenital	Failure to thrive, Villous atrophy, Arthritis, Crypt hyperplasia, Small for gestational age	OMIM:613217
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Abnormal for...	ORPHA:3258
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Pseudobulbar paralysis, Localized osteoporosis, Kyphoscoliosis, Spastic ataxia, Gait disturbance,...	ORPHA:199354
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Kyphoscoliosis, Talipes cavus equinovarus, Gait disturbance, Unsteady gait, ...	OMIM:601455
Idiopathic Intracranial Hypertension	Vomiting, Lethargy, Depression, Nausea	ORPHA:238624
Riboflavin Deficiency	Lethargy, Poor suck	OMIM:615026
Ullrich Congenital Muscular Dystrophy	Slender finger, Kyphosis, Elbow flexion contracture, Increased laxity of fingers, Knee flexion co...	ORPHA:75840
Autosomal Recessive Dopa-Responsive Dystonia	Lethargy, Bradykinesia, Constipation, Feeding difficulties	ORPHA:101150
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Acute hepatic failure, Malabsorption, Nausea and vomiting, Abdominal...	ORPHA:537
Marinesco-Sjogren Syndrome	Kyphosis, Failure to thrive, Limb ataxia, Gait ataxia, Cubitus valgus, Coxa valga, Ataxia, Short ...	OMIM:248800
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Lethargy, Dysphagia	OMIM:613561
Hunter-Macdonald Syndrome	Epiphyseal dysplasia, Hypospadias, Joint contracture of the hand, Pectus carinatum, Delayed crani...	OMIM:611962
Three M Syndrome 3	Slender long bone, Short thorax, Increased vertebral height, Short neck, Prominent calcaneus, Hyp...	OMIM:614205
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l...	OMIM:147750
Mitochondrial Complex I Deficiency, Nuclear Type 5	Lethargy, Vomiting, Dysphagia, Episodic vomiting	OMIM:618226
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Fibrochondrogenesis	Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Abnormal diaphysis mor...	ORPHA:2021
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Abdominal distention, Hepatocellular carcinoma	ORPHA:369
Achondrogenesis Type 1B	Narrow chest, Micromelia, Short thorax, Talipes equinovarus, Short neck, Abnormal rib morphology,...	ORPHA:93298
Citrullinemia Type I	Hepatic failure, Vomiting, Gastroesophageal reflux, Lethargy, Feeding difficulties	ORPHA:247525
Melnick-Needles Syndrome	Anisospondyly, Hip dislocation, Short distal phalanx of finger, Narrow chest, Short thorax, Delay...	ORPHA:2484
Leukoencephalopathy With Vanishing White Matter 1	Premature ovarian insufficiency, Lethargy, Secondary amenorrhea, Primary amenorrhea	OMIM:603896
Osteomesopyknosis	Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis	ORPHA:2777
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Stickler Syndrome	Slender build, Genu valgum, Arachnodactyly, Short hard palate, Cachexia, Hip dislocation, Chronic...	ORPHA:828
Vertical Talus, Congenital	Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus, Arthritis	OMIM:192950
Leopard Syndrome 1	Unilateral renal agenesis, Pectus carinatum, Delayed menarche, Cryptorchidism, Aplasia of the ova...	OMIM:151100
Dracunculiasis	Limitation of joint mobility, Skin rash, Arthritis, Flexion contracture, Pruritus, Recurrent cuta...	ORPHA:231
Vitamin B12-Responsive Methylmalonic Acidemia	Lethargy, Nausea and vomiting	ORPHA:28
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Bell-shaped thorax, Short neck, Anterior ri...	OMIM:271665
Synpolydactyly 2	Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Lethal Congenital Contracture Syndrome Type 1	Slender long bone, Abnormal form of the vertebral bodies, Abnormal hip bone morphology, Short nec...	ORPHA:1486
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Lethargy, Head titubation, Feeding difficulties	OMIM:250620
Liver Disease, Severe Congenital	Diarrhea, Portal inflammation, Recurrent otitis media, Hepatic steatosis, Abnormal hepatic echoge...	OMIM:619991
Distal Deletion 12Q	Overlapping toe, Short neck, Large hands, Ectopic kidney, Duodenal atresia, Polycystic kidney dys...	ORPHA:96149
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Recurrent otitis media, Asplenia	OMIM:618948
Acromegaly	Pituitary prolactin cell adenoma, Dysmenorrhea, Elevated circulating growth hormone concentration...	ORPHA:963
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Joint contracture of the hand, Narrow chest, Micromelia, Broad long bones, Short ribs, Bowing of ...	OMIM:224400
Hyperphenylalaninemia, Bh4-Deficient, B	Lethargy, Dysphagia, Feeding difficulties, Poor suck	OMIM:233910
Central Neurocytoma	Lethargy, Depression, Nausea and vomiting	ORPHA:73256
Banki Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Synostosis of carpal bones, Brach...	ORPHA:1228
Combined Oxidative Phosphorylation Deficiency 2	Lethargy, Feeding difficulties in infancy	OMIM:610498
Sézary Syndrome	Neoplasm of the skin, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglob...	ORPHA:3162
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Diarrhea, Acute hepatic failure, Nausea and vomiting, Abdominal pain...	ORPHA:36426
Glycine Encephalopathy 1	Lethargy	OMIM:605899
Frank-Ter Haar Syndrome	Delayed cranial suture closure, Anterior concavity of thoracic vertebrae, Bowing of the long bone...	OMIM:249420
Hypoglossia With Situs Inversus	Microglossia, Polysplenia, Malnutrition, Feeding difficulties in infancy, Asplenia, High palate	OMIM:612776
Immunodeficiency 89 And Autoimmunity	Increased circulating IgE level, Crohn's disease, Increased circulating IgA level, Hypochromic mi...	OMIM:619632
Geroderma Osteodysplasticum	Platyspondyly, Osteopenia, Periodontitis, Hyperextensibility of the finger joints, Femoral bowing...	OMIM:231070
Spondyloepimetaphyseal Dysplasia, Shohat Type	Platyspondyly, Delayed epiphyseal ossification, Metaphyseal irregularity, Fibular overgrowth, Mic...	OMIM:602557
Familial Colorectal Cancer Type X	Neoplasm of the colon, Stomach cancer, Nausea and vomiting, Neoplasm of the skeletal system, Neop...	ORPHA:440437
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypouricemia, Acute kidney injury, Decreased glomerular filtration rate, ...	ORPHA:94088
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Feeding difficulties in infancy...	OMIM:618752
Melnick-Needles Syndrome	Hypoplastic scapulae, Delayed cranial suture closure, Recurrent otitis media, Genu valgum, Anteri...	OMIM:309350
Robinow Syndrome, Autosomal Dominant 2	Mesomelia, Short distal phalanx of finger, Broad thumb, Clinodactyly, Cleft soft palate, Cryptorc...	OMIM:616331
Felty Syndrome	Bone marrow hypocellularity, Recurrent pneumonia, Lymphoma, Abnormal lymphocyte morphology, Episc...	ORPHA:47612
Dystonia-Deafness Syndrome 1	Hypoplastic scapulae, Pseudobulbar paralysis, Kyphoscoliosis, Loss of ambulation, Femoral retrove...	OMIM:607371
Cowden Syndrome 1	Lymphopenia, Ovarian cyst, High palate, Carcinoma, Thyroid adenoma, Goiter, Hypothyroidism, Hyper...	OMIM:158350
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Type I diabetes mellitus, Hypogonadism, Delayed menarche, Type II diabetes mellitus, Hypothyroidi...	ORPHA:412057
Spinal Muscular Atrophy, Ryukyuan Type	Kyphoscoliosis	OMIM:271200
Monosomy 18Q	Secondary growth hormone deficiency, Failure to thrive, Bilateral cryptorchidism, Slender build, ...	ORPHA:1600
Otopalatodigital Syndrome, Type Ii	Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia...	OMIM:304120
Larsen Syndrome	Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m...	ORPHA:503
Juvenile Temporal Arteritis	Allergic rhinitis, Conjunctivitis, Eosinophilia, Leukocytosis	ORPHA:26137
Larsen Syndrome	Hypoplastic cervical vertebrae, Elbow dislocation, Talipes equinovarus, Beaking of vertebral bodi...	OMIM:150250
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Talipes equinovarus, Anal atresia, Polycystic kidney dysplasia, Cone-shaped epiphysis, Thoracic h...	OMIM:613091
Ataxia-Oculomotor Apraxia Type 4	Ataxia, Obesity, Abnormal toe morphology, Kyphoscoliosis	ORPHA:459033
Microcephalic osteodysplastic primordial dwarfism, type III	Pectus carinatum, Ulnar deviation of finger, Slender long bone, Bladder exstrophy, Delayed crania...	OMIM:210730
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal form of the vertebral bodies, Sandal gap, Sprengel anomaly, Brachydactyly, Hemivertebrae...	ORPHA:2180
White Forelock With Malformations	Finger syndactyly, Clinodactyly of the 5th finger, Sprengel anomaly, Abnormal rib morphology, Spi...	ORPHA:2475
Behçet Disease	Gastrointestinal hemorrhage, Anorexia, Recurrent aphthous stomatitis, Malabsorption, Nausea and v...	ORPHA:117
Crimean-Congo Hemorrhagic Fever	Diarrhea, Morbilliform rash, Pancytopenia, Nausea and vomiting, Erythema nodosum, Neutrophilia, H...	ORPHA:99827
Microcephalic Primordial Dwarfism, Dauber Type	Madelung deformity, Lumbar scoliosis, Limb undergrowth, Hip dysplasia, Clinodactyly of the 5th fi...	ORPHA:319675
Acro-Renal-Mandibular Syndrome	Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Short neck, Sprengel anom...	ORPHA:958
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormal vertebral morphology, Platyspondyly, Aplasia/hypoplasia involving bones of the extremiti...	ORPHA:93346
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Lethargy, Gastroesophageal reflux, Abnormal posturing, Feeding difficulties	OMIM:614857
Congenital Atransferrinemia	Arthritis	ORPHA:1195
Loeys-Dietz Syndrome 6	Hip osteoarthritis, Bifid uvula, Broad uvula, Abnormal sternum morphology, Osteochondritis dissec...	OMIM:619656
Castleman Disease	Nausea and vomiting, Intestinal obstruction, Abnormality of the gastrointestinal tract, Abdominal...	ORPHA:160
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy	OMIM:617900
Dihydropyrimidine Dehydrogenase Deficiency	Lethargy	OMIM:274270
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Talipes equinovarus, Split hand, Kyphoscoliosis	OMIM:607831
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology	OMIM:602196
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Primary...	OMIM:269200
Phaver Syndrome	Ulnar deviation of finger, Broad thumb, Abnormal form of the vertebral bodies, Short thumb, Campt...	ORPHA:2876
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Protein-losing enteropathy, Intestinal lymphangiectasia, Hirsutism, Narrow palate, Rectal prolapse	OMIM:235510
Spondyloepiphyseal Dysplasia Congenita	Hypoplasia of the odontoid process, Limited hip movement, Delayed pubic bone ossification, Barrel...	OMIM:183900
Typhoid	Gastrointestinal hemorrhage, Diarrhea, Lethargy, Constipation, Abdominal pain	ORPHA:99745
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Prominent floating ribs	OMIM:152800
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Small hand, Broad thumb, Broad-based gait, Cryptorchidism, Talipes equinovarus, Short neck, Abnor...	ORPHA:251028
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	High, narrow palate, Joint hypermobility, Arachnodactyly, Gait disturbance, Adducted thumb, Shoul...	ORPHA:2181
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Decreased fibular diameter, Decreased skull ossification, Short neck, Multiple prenatal fractures...	OMIM:616897
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Portal inflammation, Cholestasis, Cholecystitis, Jaundice, Panc...	OMIM:600803
Diarrhea 6	Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease	OMIM:614616
Poland Syndrome	Small hand, Finger syndactyly, Ureterocele, Aplasia/Hypoplasia of the sternum, Cryptorchidism, Ap...	ORPHA:2911
Congenital Vertical Talus	Equinus calcaneus, Distal arthrogryposis, Lower extremity joint dislocation, Achilles tendon cont...	ORPHA:178382
Mitochondrial Complex I Deficiency, Nuclear Type 4	Lethargy, Vomiting	OMIM:618225
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad ribs, Broad...	OMIM:600002
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Pectus carinatum, Broad-based gait, Clinodactyly, Oligosacchariduria, Kyphoscoliosis, Talipes equ...	ORPHA:397709
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M...	ORPHA:231401
Coronary Artery Disease, Autosomal Dominant, 1	Obesity, Hypercholesterolemia	OMIM:608320
Weaver Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe...	OMIM:277590
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Ov...	OMIM:253200
Fibrosis Of Extraocular Muscles, Congenital, 3C	Pectus excavatum, Kyphosis	OMIM:609384
Adult-Onset Still Disease	Neutrophilia, Bone marrow hypocellularity, Hepatitis, Interstitial pneumonitis, Skin rash, Leukoc...	ORPHA:829
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Ulnar deviation of thumb, ...	OMIM:142900
Autosomal Recessive Spastic Paraplegia Type 23	Horseshoe kidney, Kyphoscoliosis, Spastic gait, Hip dislocation, Waddling gait	ORPHA:101003
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Mucopolysaccharidosis, Type Ivb	Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Ataxia, Bilateral talipe...	OMIM:253010
Congenital Muscular Dystrophy Without Intellectual Disability	Difficulty walking, Achilles tendon contracture, Tip-toe gait, Kyphoscoliosis	ORPHA:370980
Familial Chylomicronemia Syndrome	Hepatosplenomegaly, Nausea and vomiting, Hepatic steatosis, Episodic abdominal pain, Recurrent pa...	ORPHA:444490
Achondrogenesis, Type Ia	Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe...	OMIM:200600
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Symphalangism, Proximal, 1A	Distal symphalangism of hands, Aplasia/Hypoplasia of the middle phalanges of the hand, Carpal syn...	OMIM:185800
Lysinuric Protein Intolerance	Hepatic failure, Diarrhea, Vomiting, Hemophagocytosis, Hepatic amyloidosis, Decreased response to...	ORPHA:470
Somatomammotropinoma	Increased circulating prolactin concentration, Pituitary prolactin cell adenoma, Dysmenorrhea, El...	ORPHA:314769
Acromesomelic Dysplasia 4	Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to...	OMIM:619636
15Q24 Microdeletion Syndrome	Small hand, Small for gestational age, Clinodactyly, Microphallus, Failure to thrive, Decreased r...	ORPHA:94065
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Enterocolitis	OMIM:620425
Brucellosis	Arteritis, Sacroiliac arthritis, Knee osteoarthritis, Weight loss, Glomerulonephritis, Endocardit...	ORPHA:1304
Combined Oxidative Phosphorylation Deficiency 32	Gastroesophageal reflux, Horseshoe kidney, Inability to walk, Kyphoscoliosis, Joint contracture, ...	OMIM:617664
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Short toe, Aplasia of the middle phalanges of the toes, ...	ORPHA:2098
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Contractures of the large joints, Inability to walk, Abnormal thumb morphology, Protruding tongue...	ORPHA:324410
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Leukocytosis, Hematuria, Proteinuria, Thrombocytop...	ORPHA:90060
Melioidosis	Pneumonia, Unusual skin infection, Foot osteomyelitis, Cutaneous abscess, Parotitis, Hepatitis, P...	ORPHA:31202
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e...	OMIM:305620
Cirrhosis, Familial	Lethargy, Fulminant hepatitis, Esophageal varix, Abdominal distention	OMIM:215600
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces...	ORPHA:411696
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased libido, Hypogonadotropic hypogonadism, Lethargy, Apathy, Amenorrhea, Cholangiocarcinoma...	ORPHA:465508
Esophagitis, Eosinophilic, 2	Vomiting, Eosinophilia, Esophagitis, Dysphagia	OMIM:613412
Esophagitis, Eosinophilic, 1	Vomiting, Eosinophilia, Esophagitis, Dysphagia	OMIM:610247
Wilson Disease	Hepatitis, Failure to thrive, Pathologic fracture, Abnormality of the menstrual cycle, Difficulty...	ORPHA:905
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro...	ORPHA:859
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Small hand, Sandal gap, Hypogonadism, Decreased testicular size, Gait ataxia, Cryptorchidism, Joi...	OMIM:300354
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Enlarged lacrimal glands, Pancytopenia, Abnormality of T cel...	OMIM:181000
Pachydermoperiostosis	Acne, Small hand, Clubbing of toes, Palmoplantar keratoderma, Abnormal epiphysis morphology, Limi...	ORPHA:2796
Schinzel-Giedion Syndrome	Abnormality of the ureter, Overlapping toe, Streak ovary, Overlapping fingers, Radioulnar synosto...	ORPHA:798
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Colon cancer, Abnormal lymph node morphology, Goiter, Neoplasm of head and neck, Papillary renal ...	ORPHA:97290
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Limitation of joint mobility, Eczematoid dermatitis, Arthropathy, Wormian bones, Oste...	OMIM:259100
Hyperlipoproteinemia, Type I	Vomiting, Hepatosplenomegaly, Splenomegaly, Nausea, Episodic abdominal pain, Jaundice, Acute panc...	OMIM:238600
Hepatic Veno-Occlusive Disease	Increased body weight, Renal insufficiency, Increased total bilirubin	ORPHA:890
Intellectual Developmental Disorder, Autosomal Recessive 39	Hallux valgus, Kyphoscoliosis	OMIM:615541
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Difficulty walkin...	OMIM:600081
Fibrous Dysplasia Of Bone	Osteomalacia, Abnormal tibia morphology, Difficulty walking, Ovarian cyst, Bowing of the long bon...	ORPHA:249
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Osteogenesis Imperfecta, Type Ii	Platyspondyly, Thin ribs, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long...	OMIM:166210
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy	OMIM:613002
Difference Of Sex Development-Intellectual Disability Syndrome	Small scrotum, Hypogonadism, Genu valgum, Short neck, Short thorax, Spina bifida occulta, Hypopla...	ORPHA:2983
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopen...	ORPHA:381
Lynch Syndrome	Neoplasm of the skin, Nausea and vomiting, Neoplasm of the skeletal system, Neoplasm of the rectu...	ORPHA:144
Meier-Gorlin Syndrome 1	Thin ribs, Joint contracture of the hand, Clitoral hypertrophy, Small hand, Elbow dislocation, Cu...	OMIM:224690
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegal...	OMIM:214500
Hjv Or Hamp-Related Hemochromatosis	Hypogonadism, Lethargy, Impotence	ORPHA:79230
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Panhypogammagl...	OMIM:601457
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate...	OMIM:120330
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Renal phosphate wasting, Difficulty walking, Fibular bowing, Ric...	OMIM:241530
Cdkl5-Deficiency Disorder	Hallux valgus, Broad proximal phalanges of the hand, Scoliosis, Kyphosis	ORPHA:505652
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Narrow chest, Micromelia, Thoracic hypoplasia, Lateral clavicle hook, Horizonta...	OMIM:617895
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Alstrom Syndrome	Nephritis, Recurrent pneumonia, Dilated cardiomyopathy, Congestive heart failure, Renal insuffici...	OMIM:203800
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Kyphoscoliosis	OMIM:117850
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Metaphyseal dysplas...	ORPHA:175
Juvenile Nephropathic Cystinosis	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Hypouricemi...	ORPHA:411634
Myasthenic Syndrome, Congenital, 25, Presynaptic	Dysphagia, Scoliosis, Kyphosis, Feeding difficulties, Spinal rigidity	OMIM:618323
Coach Syndrome 2	Elevated circulating creatinine concentration, Hyperechogenic kidneys	OMIM:619111
Eosinophilic Gastroenteritis	Allergic rhinitis, Protein-losing enteropathy, Hematochezia, Atopic dermatitis, Diarrhea, Vomitin...	ORPHA:2070
Good Syndrome	Thymoma, Mediastinal lymphadenopathy, Diarrhea, Aplasia/Hypoplasia of the thymus, Decreased circu...	ORPHA:169105
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Granuloma, Osteomy...	OMIM:306400
Presynaptic Congenital Myasthenic Syndromes	Spinal rigidity, Congenital hip dislocation, Pectus carinatum, Gastroesophageal reflux, Tip-toe g...	ORPHA:98914
Synostoses, Tarsal, Carpal, And Digital	Aplasia/Hypoplasia of the middle phalanges of the hand, Carpal synostosis, Metacarpophalangeal sy...	OMIM:186400
Congenital Myasthenic Syndrome	Spinal rigidity, Congenital hip dislocation, Pectus carinatum, Gastroesophageal reflux, Tip-toe g...	ORPHA:590
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Klippel-Feil Syndrome 1, Autosomal Dominant	Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnormal limb bone morphology, Abn...	OMIM:118100
Juvenile Arthritis	Leukocytosis, Skin rash, Thrombocytosis	OMIM:618795
Thiamine-Responsive Megaloblastic Anemia Syndrome	Lethargy, Diarrhea, Anorexia	ORPHA:49827
Renpenning Syndrome	High, narrow palate, Decreased testicular size, Joint stiffness, Abnormal thumb morphology, Cache...	ORPHA:3242
Arthrogryposis Multiplex Congenita 5	Hand clenching, Arthrogryposis multiplex congenita, Elbow flexion contracture, Medullary nephroca...	OMIM:618947
Melorheostosis	Failure to thrive, Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthriti...	ORPHA:2485
Tatton-Brown-Rahman Syndrome	Short toe, Widely spaced toes, Obesity, Cryptorchidism, Joint hypermobility, Kyphoscoliosis, Pate...	ORPHA:404443
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Elbow flexion contracture, 11 pairs of ribs, Hip contracture, Knee flexion contracture, Talipes e...	OMIM:616266
Primary Sjögren Syndrome	Vasculitis, Arteritis, Parotitis, Chronic active hepatitis, Renal insufficiency, Lymphocytic inte...	ORPHA:289390
Autosomal Agammaglobulinemia	Verrucae, Bronchiectasis, Hepatitis, Diarrhea, Osteomyelitis, Malabsorption, Skin rash, Agammaglo...	ORPHA:33110
Polycythemia Vera	Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo...	OMIM:263300
Isolated Agammaglobulinemia	Pneumonia, Failure to thrive, Otitis media, Skin rash, Clinodactyly of the 5th toe, Arthritis, Si...	ORPHA:229717
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia	ORPHA:3204
Aapoaiv Amyloidosis	Chronic kidney disease, Renal amyloidosis, Elevated circulating creatinine concentration, Hyperli...	ORPHA:439232
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Nephrocalcinosis, Failure to thrive, Kyphoscoliosis, Patent ductus arteriosus, Limb u...	OMIM:618005
Robinow Syndrome	Small scrotum, Multicystic kidney dysplasia, Ankyloglossia, Cryptorchidism, Hypoplastic labia maj...	ORPHA:97360
Loeys-Dietz Syndrome 3	Intervertebral disk degeneration, Knee osteoarthritis, Arachnodactyly, Talipes equinovarus, Eosin...	OMIM:613795
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Mitochondrial Myopathy And Sideroblastic Anemia	Delayed puberty, Anemia, High palate, Scoliosis, Kyphosis	ORPHA:2598
Hypomelanosis Of Ito	Clinodactyly, Radial deviation of finger, Hand polydactyly, Scoliosis, Kyphosis, Syndactyly	OMIM:300337
Mitochondrial Complex I Deficiency, Nuclear Type 6	Lethargy, Vomiting	OMIM:618228
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Barrel-s...	OMIM:215140
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Secretory diarrhea, Intestinal malrotation, Abdominal distention, Anal atresia, Rectovaginal fist...	OMIM:270420
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	High, narrow palate, Obesity, Loss of ambulation, Split hand, Ataxia, Premature ovarian insuffici...	OMIM:618124
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Synostosis of carpal bones, Short thumb, Sandal gap, Elbow disloc...	ORPHA:90650
Febrile Infection-Related Epilepsy Syndrome	Lethargy	ORPHA:163703
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Inflammation of the large intestine, Granuloma, Cholestasis, Interface...	ORPHA:562639
Acute Intermittent Porphyria	Diarrhea, Depression, Pseudobulbar paralysis, Ileus, Nausea and vomiting, Constipation, Abdominal...	ORPHA:79276
Unclassified Myelodysplastic Syndrome	Bone marrow hypocellularity, Myelodysplasia, Leukocytosis, Acute myeloid leukemia, Multiple linea...	ORPHA:98827
Arthrogryposis, Distal, Type 5	Clinodactyly, Arachnodactyly, Limited wrist extension, Decreased palmar creases, Recurrent patell...	OMIM:108145
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph...	OMIM:104200
Thanatophoric Dysplasia, Type I	Platyspondyly, Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Thoracic hypopla...	OMIM:187600
Familial Pancreatic Carcinoma	Peritoneal abscess, Intestinal pseudo-obstruction, Hepatosplenomegaly, Nausea and vomiting, Melan...	ORPHA:1333
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o...	ORPHA:435651
Qazi-Markouizos Syndrome	High, narrow palate, Chronic constipation, Abdominal distention	ORPHA:3010
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Microcolon, Intestinal malrotation, Neoplasm of the heart, Nausea and vomiting, Abnormality of th...	ORPHA:2241
Pelger-Huet Anomaly	Giant platelets, Eczematoid dermatitis, Recurrent otitis media, Median cleft palate, Hyposegmenta...	OMIM:169400
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Reduced natural killer cell count, Ecz...	OMIM:243700
Cleidocranial Dysplasia	Hypoplastic scapulae, Genu valgum, Decreased skull ossification, Abnormal metacarpal morphology, ...	ORPHA:1452
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Long palm, Arachnodactyly, Missing ribs, Hemivertebrae, Ab...	ORPHA:2759
Digeorge Syndrome	Recurrent otitis media, Hepatic steatosis, Ovarian cyst, Intervertebral disk degeneration, High p...	OMIM:188400
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Flexion contracture, Kyphoscoliosis	OMIM:607855
Pseudoleprechaunism Syndrome, Patterson Type	Abnormal odontoid process morphology, Genu valgum, Delayed pubic bone ossification, Joint swellin...	ORPHA:2976
Distal Symphalangism	Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Camptodactyly of f...	ORPHA:3248
Ck Syndrome	Slender build, Abnormal cortical bone morphology, Joint hypermobility, Abnormal digit morphology,...	OMIM:300831
Congenital Disorder Of Glycosylation, Type Ih	Protein-losing enteropathy, Vomiting, Diarrhea, Decreased liver function, Abdominal distention	OMIM:608104
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Difficulty walking, Fibular bowing, Secondary hyperparathyroidis...	OMIM:264700
Autosomal Dominant Spastic Paraplegia Type 29	Hiatus hernia, Abnormal rectum morphology	ORPHA:101009
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Skin rash, Splenomegaly, Autoimmune hemolyt...	ORPHA:100026
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ...	OMIM:250220
Gm1-Gangliosidosis, Type Iii	Platyspondyly, Kyphosis, Splenomegaly, Hepatomegaly, Scoliosis, Anterior beaking of lumbar vertebrae	OMIM:230650
Multiple Endocrine Neoplasia Type 1	Diarrhea, Pituitary prolactin cell adenoma, Pituitary thyrotropic cell adenoma, Pituitary null ce...	ORPHA:652
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Splenomegaly, Pancreatitis, Hepatomegaly, Vacuolated lympho...	ORPHA:565612
Multicentric Carpotarsal Osteolysis Syndrome	Ankle swelling, Wrist swelling, Carpal osteolysis, Metacarpal osteolysis, Metatarsal osteolysis, ...	OMIM:166300
Mucolipidosis Iii Gamma	Pectus carinatum, Genu valgum, Claw hand deformity, Flared iliac wing, Short neck, Flat capital f...	OMIM:252605
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Broad middle phalanx of finger, Short distal phalanx of the thumb, Decreased circulating total Ig...	ORPHA:221139
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity	OMIM:300718
Achondrogenesis Type 1A	Narrow chest, Micromelia, Multiple rib fractures, Short neck, Short thorax, Short foot, Short palm	ORPHA:93299
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Symphalangism of the thumb, Short toe, Clinodactyly, Broad hallux, Failure to thrive, Joint stiff...	OMIM:620494
Carney Triad	Gastrointestinal hemorrhage, Adrenal overactivity, Diarrhea, Adrenocortical adenoma, Pheochromocy...	ORPHA:139411
Marden-Walker Syndrome	High, narrow palate, Hypospadias, Joint contracture of the hand, Renal hypoplasia, Congenital con...	OMIM:248700
Classical Ehlers-Danlos Syndrome	Osteopenia, Gastroesophageal reflux, Shoulder dislocation, Joint swelling, Uterine prolapse, Gene...	ORPHA:287
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Kyphoscoliosis	OMIM:300886
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cryptorchidism, Hypoplasia of the thymus, Hepatomegaly, Jaundice, Intrahepatic biliary dysgenesis...	OMIM:214110
Charcot-Marie-Tooth Disease, Type 4A	Ulnar claw, Hammertoe, Inability to walk by childhood/adolescence, Kyphoscoliosis	OMIM:214400
Hypomagnesemia 3, Renal	Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating...	OMIM:248250
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
X-Linked Hypophosphatemia	Renal phosphate wasting, Limitation of joint mobility, Genu valgum, Bowing of the long bones, Gen...	ORPHA:89936
Ophthalmomandibulomelic Dysplasia	Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ...	ORPHA:2741
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Platyspondyly, Ivory epiphyses, Hypoplastic ilia, Metaphyseal irregularity, Abnormal epiphysis mo...	ORPHA:85167
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Hyperuri...	ORPHA:411536
Microvillus Inclusion Disease	Diarrhea, Villous atrophy, Abdominal distention, Abnormal small intestinal villus morphology	ORPHA:2290
Multiple Pterygium Syndrome, Escobar Variant	Intercrural pterygium, Dysplastic patella, Patellar aplasia, Cryptorchidism, Arachnodactyly, Tali...	OMIM:265000
Sporadic Infantile Bilateral Striatal Necrosis	Abnormal posturing, Nasogastric tube feeding, Titubation, Bradykinesia, Dysphagia, Poor suck	ORPHA:225147
Cole-Carpenter Syndrome	Abnormal form of the vertebral bodies, Abnormal metaphysis morphology, Bowing of the long bones, ...	ORPHA:2050
Anauxetic Dysplasia 3	Platyspondyly, Broad middle phalanx of finger, Metaphyseal cupping, Gastroesophageal reflux, Narr...	OMIM:618853
Primary Biliary Cholangitis	Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormality of the thyroid gland...	ORPHA:186
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Aplasia/hypoplasia of the uterus, Azoospermia, Vertebral segmentation defect, Short neck, Abnorma...	ORPHA:2578
Classic Glucose Transporter Type 1 Deficiency Syndrome	Lethargy	ORPHA:71277
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Feeding difficulties in infancy, Constipation, Protuberant abdomen, Abdominal distention, Macrogl...	ORPHA:226313
Pyruvate Dehydrogenase E3 Deficiency	Lethargy, Vomiting, Hepatic failure, Feeding difficulties	ORPHA:2394
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Cryptorchidism, Tapered finger	OMIM:618512
Trisomy 13	High, narrow palate, Abnormal pelvic girdle bone morphology, Narrow chest, Ectrodactyly, Abnormal...	ORPHA:3378
Floating-Harbor Syndrome	Broad thumb, Recurrent otitis media, Cryptorchidism, Short neck, Broad fingertip, Celiac disease,...	OMIM:136140
Cinca Syndrome	Abnormality of neutrophils, Leukocytosis, Splenomegaly, Nausea and vomiting, Hepatomegaly, Anemia...	ORPHA:1451
Thyroid Hemiagenesis	Thyroid adenoma, Follicular thyroid carcinoma, Abdominal distention, Medullary thyroid carcinoma,...	ORPHA:95719
Osteogenesis Imperfecta, Type Xvii	Platyspondyly, Thin metacarpal cortices, Recurrent fractures, Kyphoscoliosis, Joint hypermobility...	OMIM:616507
X-Linked Intellectual Disability, Snyder Type	Pectus carinatum, Abnormality of the Leydig cells, Inability to walk, Recurrent fractures, Crypto...	ORPHA:3063
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Fibular aplasia, Aplasia/Hypoplasia of the patella, Aplasia/Hypop...	ORPHA:3320
Mevalonic Aciduria	Diarrhea, Vomiting, Fluctuating splenomegaly, Morbilliform rash, Hepatosplenomegaly, Leukocytosis...	OMIM:610377
Schimmelpenning-Feuerstein-Mims Syndrome	Precocious puberty, Osteopenia, Horseshoe kidney, Hypophosphatemic rickets, Hyperphosphaturia, Ky...	OMIM:163200
3-Hydroxy-3-Methylglutaric Aciduria	Diarrhea, Anorexia, Leukopenia, Leukocytosis, Lipid accumulation in hepatocytes, Hepatomegaly, Re...	ORPHA:20
Cooper-Jabs Syndrome	Camptodactyly of finger, Abnormal hip bone morphology, Missing ribs, Abnormal rib morphology, Sco...	ORPHA:1488
Porphyria Variegata	Hypertrichosis, Ileus, Nausea, Constipation, Abdominal pain, Hepatocellular carcinoma	ORPHA:79473
Necrotizing Enterocolitis	Diarrhea, Vomiting, Hypoactive bowel sounds, Lethargy, Abdominal rigidity, Peritonitis, Abdominal...	ORPHA:391673
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Gastroesophageal reflux, Decreased liver function, Recurrent otitis media, Exocri...	OMIM:618268
Frank-Ter Haar Syndrome	Genu recurvatum, Acne, Camptodactyly of finger, Osteolysis, Joint stiffness, Beaking of vertebral...	ORPHA:137834
Schwartz-Jampel Syndrome	Arthrogryposis multiplex congenita, Elbow dislocation, Abnormality of the ureter, Genu valgum, Hi...	ORPHA:800
Complement Factor I Deficiency	Vasculitis, Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal ins...	OMIM:610984
Familial Papillary Or Follicular Thyroid Carcinoma	Follicular thyroid carcinoma, Abnormal lymph node morphology, Goiter, Neoplasm of head and neck, ...	ORPHA:319487
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Tibial bowing, Lower limb undergrowth, Bowing of the long bones, Abnormal fibula m...	ORPHA:3035
Neuropathy, Congenital, With Arthrogryposis Multiplex	Calcaneovalgus deformity, Hyperlordosis	OMIM:162370
Thanatophoric Dysplasia	Platyspondyly, Abnormal ilium morphology, Narrow chest, Micromelia, Short thorax, Joint stiffness...	ORPHA:2655
Craniosynostosis, Herrmann-Opitz Type	Micromelia, Finger syndactyly, Brachydactyly, Split hand, Abnormal rib morphology, Craniosynostosis	ORPHA:2145
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Recessive Dystrophic Epidermolysis Bullosa Inversa	Anemia, Gastrointestinal inflammation, Esophageal stricture	ORPHA:79409
Developmental And Epileptic Encephalopathy 41	Inability to walk, Flexion contracture, Nephrocalcinosis, Kyphoscoliosis	OMIM:617105
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain	OMIM:191390
Susac Syndrome	Lethargy, Apathy, Nausea and vomiting	ORPHA:838
Intellectual Developmental Disorder, Autosomal Recessive 78	Narrow chest, Kyphoscoliosis, Cubitus valgus, Brachydactyly, Clinodactyly of the 5th finger, High...	OMIM:620237
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Elbow dislocation, Genu valgum, Bell-shaped thorax, Bilateral cle...	ORPHA:56304
Immunodeficiency 31C	Diarrhea, Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Hepatomegaly, ...	OMIM:614162
Kagami-Ogata Syndrome	Thin ribs, Bell-shaped thorax, Kyphoscoliosis, Limb undergrowth, Long fingers, Long clavicles, Fl...	OMIM:608149
Floating-Harbor Syndrome	Broad-based gait, Clinodactyly, Cryptorchidism, Short neck, Broad fingertip, Celiac disease, Disl...	ORPHA:2044
Sapho Syndrome	Inflammation of the large intestine, Craniofacial osteosclerosis, Abnormality of the vertebral co...	ORPHA:793
Mucopolysaccharidosis, Type X	Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib...	OMIM:619698
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pancreatitis, Diabetic ketoacidosis	ORPHA:70578
Myofibrillar Myopathy 10	Ankle flexion contracture, Sandal gap, Elbow flexion contracture, Knee flexion contracture, Flexi...	OMIM:619040
Acitretin/Etretinate Embryopathy	Hypoplasia of the thymus, High palate, Median cleft palate	ORPHA:40366
Maple Syrup Urine Disease, Type Ia	Feeding difficulties in infancy, Vomiting, Pancreatitis	OMIM:248600
Acrocephalopolydactyly	Protuberant abdomen	ORPHA:221054
Primary Hepatic Neuroendocrine Carcinoma	Diarrhea, Neuroendocrine neoplasm, Anorexia, Neoplasm of the nervous system, Neoplasm of the eye,...	ORPHA:100085
Plague	Inflammation of the large intestine, Diarrhea, Lymphadenitis, Ileitis, Acute infectious pneumonia...	ORPHA:707
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Progressive congenital scoliosis, Platyspondyly, Congenital hip dislocation, Osteopenia, Joint di...	OMIM:225400
Multicentric Reticulohistiocytosis	Cachexia, Arthritis	ORPHA:139436
Hypophosphatasia	Narrow chest, Bowing of the long bones, Abnormal rib morphology, Craniosynostosis, Abnormal metap...	ORPHA:436
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Small hand, Inability to walk, Genu valgum, Thoracic scoliosis, Kyphoscoliosis, Cubitus valgus, J...	ORPHA:300570
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Chylomicron Retention Disease	Diarrhea, Vomiting, Abdominal distention, Steatorrhea, Fat malabsorption	ORPHA:71
Spondylocostal Dysostosis 4, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Vertebral segmentation...	OMIM:613686
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Failure to thrive, Joint swelling, Osteolytic defects of ...	OMIM:228000
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Small hand, Annular pancreas, Short thumb, Anteriorly placed anus, Hy...	OMIM:268400
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Pectus carinatum, Narrow chest, Long palm, Pectus excavatum, Scoliosis, Kyphosis	OMIM:300676
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Bowing of the ...	ORPHA:90652
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Pectus carinatum, Popliteal pterygium, Cervical spinal canal stenosis, Carpal synostosis, Elbow f...	OMIM:178110
Mucopolysaccharidosis, Type Iiic	Heparan sulfate excretion in urine, Joint stiffness, Thickened ribs, Kyphoscoliosis, Ovoid thorac...	OMIM:252930
Autosomal Recessive Multiple Pterygium Syndrome	Small scrotum, Limitation of joint mobility, Finger syndactyly, Cryptorchidism, Abnormal gastroin...	ORPHA:2990
Osteogenesis Imperfecta, Type X	Thin ribs, Genu valgum, Fibular bowing, Bowing of the long bones, Osteopenia, Thoracic hypoplasia...	OMIM:613848
Osteogenesis Imperfecta, Type Iii	Thin ribs, Slender long bone, Protrusio acetabuli, Recurrent fractures, Bowing of limbs due to mu...	OMIM:259420
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Abnormality of the hypothalamus-pituitary axis, Nausea and vomiting,...	ORPHA:900
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Inflammatory abnormality of the ...	ORPHA:94059
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Elbow dislocation, Clinodactyly of the 5th finger, Postaxi...	ORPHA:2916
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Congenital hip dislocation, Hand clenching, Kyphosis, Arthrogryposis multiplex congenita, Overlap...	OMIM:618291
X-Linked Creatine Transporter Deficiency	Aganglionic megacolon, Ileus, Constipation	ORPHA:52503
Cat-Eye Syndrome	Hip dysplasia, Abnormal rib morphology	ORPHA:195
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Hypoplasia of the odontoid process, Postaxial foo...	ORPHA:508533
Kyphomelic Dysplasia	Platyspondyly, Radial bowing, Flared metaphysis, Micromelia, Thoracic hypoplasia, Dumbbell-shaped...	OMIM:211350
Junctional Epidermolysis Bullosa Inversa	Gastrointestinal inflammation	ORPHA:79405
Pyruvate Dehydrogenase Deficiency	Lethargy, Multiple lipomas, Feeding difficulties in infancy, High palate	ORPHA:765
Monosomy 18P	Kyphoscoliosis, Short neck, Brachydactyly, Pectus excavatum, Cleft palate, Enlarged thorax	ORPHA:1598
Short Stature, Brussels Type	Delayed epiphyseal ossification, Calcification of cartilage, Narrow chest, Horseshoe kidney	ORPHA:2867
Multiple Acyl-Coa Dehydrogenase Deficiency	Vomiting, Decreased liver function, Hepatic periportal necrosis, Gray matter heterotopia, Dysphag...	ORPHA:26791
Zika Virus Disease	Myelitis, Ankle swelling, Wrist swelling, Pruritus, Skin rash, Infectious encephalitis, Arthritis...	ORPHA:448237
Leukodystrophy, Hypomyelinating, 3	Failure to thrive, Joint contracture, Kyphoscoliosis	OMIM:260600
Charcot-Marie-Tooth Disease, Type 4K	Difficulty walking, Ataxia, Kyphoscoliosis	OMIM:616684
Autosomal Recessive Spastic Paraplegia Type 77	Detrusor sphincter dyssynergia, Neuromuscular dysphagia, Bilateral cryptorchidism, Kyphoscoliosis...	ORPHA:466722
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Inflammation of the large intestine, Kyphosis, Polymicrogyria, Lymphopenia, Absent uvula, Intesti...	OMIM:619708
Hypermobile Ehlers-Danlos Syndrome	High, narrow palate, Menometrorrhagia, Gastroesophageal reflux, Joint dislocation, Elbow dislocat...	ORPHA:285
Viss Syndrome	Increased circulating IgE level, Exostosis of the external auditory canal, Cleft soft palate, Chr...	OMIM:619472
Thyrocerebrorenal Syndrome	Nephritis, Renal insufficiency	ORPHA:3327
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased adiponectin level, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Pancreatitis, H...	ORPHA:280365
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Kyphoscoliosis, Triceps weakness, Intrinsic hand muscle atrophy, Areflexia of upper limbs, Impair...	OMIM:619574
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Skin rash, Splenomegaly, Increased circulating antibody level, Myositis, Hepatomegal...	OMIM:617591
Autosomal Dominant Spastic Paraplegia Type 36	Urinary incontinence, Spastic gait, Urinary urgency, Arthritis	ORPHA:320365
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout	OMIM:610947
Hyperparathyroidism-Jaw Tumor Syndrome	Peptic ulcer, Elevated circulating parathyroid hormone level, Renal hamartoma, Pancreatic adenoca...	ORPHA:99880
Kyphoscoliotic Ehlers-Danlos Syndrome	Congenital hip dislocation, Osteopenia, Atlantoaxial instability, Congenital kyphoscoliosis, Pect...	ORPHA:536545
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Hypoplasia of the thymus, Short neck, High palate, Macroglossia, Narrow palate	OMIM:617022
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Micromelia, Cryptorchidism, Decreased calvarial ossification, Joint hypermobility, Ambiguous geni...	ORPHA:2772
Noonan Syndrome 1	High, narrow palate, Clinodactyly, Radial deviation of finger, Male infertility, Hypogonadism, Fa...	OMIM:163950
Nephronophthisis 15	Obesity, Nephronophthisis	OMIM:614845
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Cervical lymphadenopathy, L...	ORPHA:514
Dengue Fever	Gastrointestinal hemorrhage, Diarrhea, Nausea and vomiting, Lethargy, Abdominal pain	ORPHA:99828
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Abnormal thumb morphology...	ORPHA:1120
Campomelic Dysplasia	Bowing of the long bones, Talipes equinovarus, Short neck, Male pseudohermaphroditism, Hypoplasti...	ORPHA:140
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol concentration, Hyperc...	OMIM:615703
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Aspiration pneumonia	ORPHA:431361
Autosomal Recessive Spastic Paraplegia Type 53	Pectus carinatum, Failure to thrive, Upper limb hypertonia, Joint hypermobility, Kyphosis	ORPHA:319199
Hall-Riggs Syndrome	Platyspondyly, Failure to thrive, Brachydactyly, Metaphyseal dysplasia, Osteoporosis, Scoliosis, ...	OMIM:234250
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Vomiting, Lethargy, Diarrhea, Feeding difficulties	OMIM:250940
Glycogen Storage Disease Ic	Inflammation of the large intestine, Cyclic neutropenia, Gout, Chronic pancreatitis, Hepatoblasto...	OMIM:232240
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Erythema nodosum, Hepatome...	OMIM:615688
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Hypoperistalsis, Abdominal distention	OMIM:619365
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Microcolon, Premature graying of hair, Hypogonadism, Abnormal eyebrow morphology, Ileus, Aganglio...	ORPHA:163746
Parathyroid Carcinoma	Peptic ulcer, Elevated circulating parathyroid hormone level, Renal hamartoma, Parathyroid carcin...	ORPHA:143
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti...	ORPHA:2634
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Asymmetry of the thorax, Limitation of joint mobility, Difficulty walking, Slender build, Lumbar ...	ORPHA:457359
22Q11.2 Deletion Syndrome	Cryptorchidism, Feeding difficulties in infancy, Short neck, Hypoparathyroidism, Anal atresia, Ch...	ORPHA:567
Hemochromatosis, Type 3	Hypogonadotropic hypogonadism, Impotence, Arthritis, Amenorrhea	OMIM:604250
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Elevated circulating creatinine concentr...	OMIM:137920
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Pilomatrixoma, Embryonal rhabdomyosarcoma, Cervix cancer, Adenocarcinoma of the colon, Lipoma, Mu...	OMIM:620189
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Gastroesophageal reflux, Clinodactyly, Radial deviation of finger, Cryptorchidism, P...	OMIM:301040
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Platyspondyly, Proximal femoral epiphysiolysis, Short femoral neck, Overlapping toe, Small epiphy...	OMIM:616723
Wieacker-Wolff Syndrome, Female-Restricted	Narrow chest, Radial deviation of the hand, Kyphosis, Inability to walk, Hip contracture, Limited...	OMIM:301041
Citrullinemia Type Ii	Hepatic fibrosis, Diarrhea, Vomiting, Delayed menarche, Hepatic steatosis, Pancreatitis, Hepatome...	ORPHA:247585
Pycnodysostosis	Small hand, Delayed cranial suture closure, Hypoplastic iliac wing, High palate, Short foot, Coro...	ORPHA:763
Anterior Cutaneous Nerve Entrapment Syndrome	Abdominal distention, Recurrent infection of the gastrointestinal tract, Nausea, Anorexia, Abdomi...	ORPHA:51890
Immunodeficiency 96	Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp...	OMIM:619774
Majeed Syndrome	Acne, Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Increased susceptib...	ORPHA:77297
Scapuloperoneal Spinal Muscular Atrophy	Small hand, Clinodactyly, Scapular muscle atrophy, Talipes equinovarus, Hyperlordosis, Metatarsus...	OMIM:181405
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Large for gestational age, Obesity, Truncal obesity	OMIM:240900
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Pectus carinatum, Limitation of joint mobility, Abnormal hip bone morp...	ORPHA:3068
Sydenham Chorea	Septic arthritis, Unsteady gait, Endocarditis	ORPHA:306731
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,...	ORPHA:73230
Intellectual Disability-Developmental Delay-Contractures Syndrome	Clinodactyly of the 5th finger, Scoliosis, Kyphosis	ORPHA:3454
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine	OMIM:612736
Meckel Syndrome, Type 8	Cleft palate, Abdominal distention	OMIM:613885
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Lethargy, Decreased liver function, Protein avoidance, Episodic vomiting	OMIM:238970
Hyperparathyroidism, Transient Neonatal	Thin ribs, Hyperparathyroidism, Fractured rib, Osteopenia, Gastroesophageal reflux, Metaphyseal s...	OMIM:618188
Immunodeficiency 32A	Granuloma, Lymphadenitis, Lymphadenopathy	OMIM:614893
Yellow Fever	Diarrhea, Vomiting, Pancreatic hyperplasia, Leukocytosis, Skin rash, Low back pain, Nausea, Abdom...	ORPHA:99829
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Tropical Pancreatitis	Insulin-dependent but ketosis-resistant diabetes, Vomiting, Malnutrition, Pancreatic adenocarcino...	ORPHA:103918
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Kyphosis, Difficulty walking, Obesity, Ataxia, Urinary incontinence, Unsteady gait, Scoliosis, Hi...	ORPHA:464282
Hyperinsulinism Due To Ucp2 Deficiency	Lethargy, Feeding difficulties	ORPHA:276556
Acute Generalized Exanthematous Pustulosis	Cholestasis, Predominantly dermal neutrophilic infiltrate, Leukocytosis, Pustule, Eosinophilic de...	ORPHA:293173
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal upper limb amyotrophy, Scoliosis, Kyphosis	ORPHA:101075
Sanjad-Sakati Syndrome	Intestinal obstruction	ORPHA:2323
Mismatch Repair Cancer Syndrome 3	Lymphoma, Astrocytoma, Neoplasm of the rectum, Lisch nodules, T-cell lymphoma, Glioblastoma multi...	OMIM:619097
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Eczematoid dermatitis, Failure to thrive in infancy, Decreased c...	OMIM:619510
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Uveitis, Diarrhea, Vomiting, Erysipelas, Fasciitis, Leukocytosis, Skin rash, Intestinal obstructi...	ORPHA:32960
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly, Hyperlordosis, Scoliosis, Kyph...	OMIM:615761
Macrophage Activation Syndrome	Hemophagocytosis, Hepatitis, Decreased liver function, Splenomegaly, Increased inflammatory respo...	ORPHA:158061
Emanuel Syndrome	Congenital hip dislocation, Unilateral renal agenesis, Gastroesophageal reflux, Renal hypoplasia,...	OMIM:609029
Mesomelia-Synostoses Syndrome	Synostosis of joints, Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal b...	ORPHA:2496
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Duodenal atresia, Vertebral segmentation defect	ORPHA:3004
Leiomyoma Of Vulva And Esophagus	Esophageal obstruction	OMIM:150700
Ullrich Congenital Muscular Dystrophy 1A	Spinal rigidity, Kyphosis, Failure to thrive, Slender build, Wrist hypermobility, Increased laxit...	OMIM:254090
Tetrasomy 15Q26	Horseshoe kidney, Kyphoscoliosis, Arachnodactyly, Hydronephrosis, Camptodactyly, High palate, Pat...	OMIM:614846
Osteopetrosis, Autosomal Recessive 3	Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis	OMIM:259730
Microcephalic Primordial Dwarfism, Montreal Type	Congenital pyloric atresia, Cryptorchidism, Vertebral segmentation defect, Scoliosis, Reduced bon...	ORPHA:2617
Hyperuricemic Nephropathy, Familial Juvenile, 3	Hyperuricemia, Abnormal renal insterstitial morphology, Renal insufficiency, Impaired renal conce...	OMIM:614227
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g...	ORPHA:263665
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Highly arched eyebrow, Anteriorly placed anus, Abnormal rectum morphology, Feeding difficulties, ...	OMIM:239300
Craniodiaphyseal Dysplasia, Autosomal Dominant	Thickened ribs, Diaphyseal sclerosis	OMIM:122860
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Abdominal...	OMIM:167800
46,Xy Sex Reversal 4	Recurrent otitis media, Elevated circulating creatinine concentration, Ureteropelvic junction obs...	OMIM:154230
Typical Nemaline Myopathy	Hip dislocation, Narrow chest, Arthrogryposis multiplex congenita, Genu valgum, Waddling gait, Sh...	ORPHA:171436
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ba...	OMIM:276820
Holocarboxylase Synthetase Deficiency	Alopecia, Lethargy, Nausea and vomiting, Anorexia	ORPHA:79242
Cutis Laxa, Autosomal Recessive, Type Ic	Gastroesophageal reflux, Rectal prolapse, Feeding difficulties, Pyloric stenosis	OMIM:613177
Larsen-Like Syndrome, Lethal Type	Abnormal cartilage matrix, Multiple joint dislocation, Joint dislocation, Tracheomalacia	OMIM:245650
Mucolipidosis Type Iii Alpha/Beta	Oligosacchariduria, Recurrent otitis media, Keratan sulfate excretion in urine, Joint stiffness, ...	ORPHA:423461
Lopes-Maciel-Rodan Syndrome	Small hand, Ankle clonus, Dysphagia, Unsteady gait, Short foot, Scoliosis, Kyphosis	OMIM:617435
Insulinoma	Neuroendocrine neoplasm, Pituitary prolactin cell adenoma, Zollinger-Ellison syndrome, Lethargy, ...	ORPHA:97279
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lethargy, Feeding difficulties	OMIM:618232
Medulloblastoma	Nausea and vomiting, Medulloblastoma, Lethargy, Adenomatous colonic polyposis, Spinal cord tumor,...	ORPHA:616
Becker Nevus Syndrome	Pectus excavatum, Scoliosis, Hemivertebrae, Cervical ribs	OMIM:604919
Gaucher Disease	Osteopenia, Cholelithiasis, Joint dislocation, Hepatitis, Osteolysis, Pathologic fracture, Osteom...	ORPHA:355
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Hashimoto thyr...	OMIM:618223
Huntington Disease-Like 1	Bradykinesia, Depression, Abnormal posturing	ORPHA:157941
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Pneumonia, Hepatitis, Recurrent urinary tract infections, Fasciitis, Elevated ci...	ORPHA:36234
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Nausea and vomiting, Splenomegaly, Lymphadenopathy, Neutropenia, ...	ORPHA:79477
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Osteopenia, Rhizomelia, Small for gestational age, Narrow chest, Decreased calvari...	OMIM:616229
Dysostosis Multiplex, Ain-Naz Type	Abdominal distention	OMIM:619345
Mosaic Trisomy 8	Narrow chest, Limitation of joint mobility, Arthrogryposis multiplex congenita, Camptodactyly of ...	ORPHA:96061
Harrod Syndrome	Abnormal pelvic girdle bone morphology, Multicystic kidney dysplasia, Failure to thrive, Abnormal...	ORPHA:2115
Marfan Syndrome	Genu recurvatum, Narrow palate, Pectus carinatum, Premature osteoarthritis, Limited elbow extensi...	OMIM:154700
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Kyphosis, Tip-toe gait, Elbow flexion contracture, Joint...	ORPHA:98855
Koolen-De Vries Syndrome	Cryptorchidism, Narrow palm, High palate, Hip dislocation, Patent ductus arteriosus, Slender fing...	OMIM:610443
Spondyloenchondrodysplasia	Platyspondyly, Hypoplastic ilia, Short distal phalanx of finger, Pneumonia, Chronic kidney diseas...	ORPHA:1855
Folinic Acid-Responsive Seizures	Abdominal distention	ORPHA:79097
Garg-Mishra Progeroid Syndrome	Platyspondyly, Thin ribs, Narrow chest, Slender long bone, Persistent open anterior fontanelle, S...	OMIM:620601
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Kyphosis, Scoliosis, Hyperlordosis, Spinal rigidity	OMIM:617404
Nephrotic Syndrome, Type 1	Gastroesophageal reflux, Abdominal distention, Pyloric stenosis	OMIM:256300
Autosomal Recessive Kenny-Caffey Syndrome	Thin ribs, Small hand, Delayed cranial suture closure, Stenosis of the medullary cavity of the lo...	ORPHA:93324
Combined Oxidative Phosphorylation Defect Type 39	Tip-toe gait, Cryptorchidism, Ankle clonus, Loss of ambulation, Prominent calcaneus, Scoliosis, C...	ORPHA:565624
Multiple Pterygium-Malignant Hyperthermia Syndrome	Small scrotum, Ulnar deviation of finger, Arthrogryposis multiplex congenita, Finger syndactyly, ...	ORPHA:2215
Bruck Syndrome	Platyspondyly, Arthrogryposis multiplex congenita, Pterygium, Joint stiffness, Recurrent fracture...	ORPHA:2771
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Lethargy, Feeding difficulties	ORPHA:276575
Kindler Epidermolysis Bullosa	Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Neoplasm of the ureth...	ORPHA:2908
Mirizzi Syndrome	Cholelithiasis, Vomiting, Abdominal distention, Abdominal colic, Anorexia, Nausea, Abdominal pain...	ORPHA:521219
Roifman-Chitayat Syndrome	Pneumonia, Osteopenia, Cone-shaped epiphysis, Short neck, Arthritis, Short metatarsal, Ectopic ki...	OMIM:613328
Infantile Liver Failure Syndrome 2	Acute hepatic failure, Lethargy, Vomiting	OMIM:616483
Acute Lung Injury	Pneumonia, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis facto...	ORPHA:178320
Hypocalciuric Hypercalcemia, Familial, Type Ii	Peptic ulcer, Primary hyperparathyroidism, Pancreatitis, Multiple lipomas	OMIM:145981
Dowling-Degos Disease	Palmar pits, Acne inversa, Scrotal hyperpigmentation, Penile freckling, Anal margin squamous cell...	ORPHA:79145
Dysosteosclerosis	Platyspondyly, Short diaphyses, Narrow chest, Broad femoral neck, Flared metaphysis, Broad ribs, ...	OMIM:224300
Episodic Ataxia Type 1	Hand clenching, Tip-toe gait, Kyphoscoliosis, Scoliosis, Choreoathetosis	ORPHA:37612
Bent Bone Dysplasia Syndrome 2	Thin ribs, Short tibia, Hypoplastic iliac wing, Talipes equinovarus, Short neck, Osteopenia, Shor...	OMIM:620076
Osteogenesis Imperfecta, Type Xx	Asymmetry of the thorax, Narrow palate, Narrow chest, High palate, Kyphoscoliosis, Wormian bones,...	OMIM:618644
Dystonia 1, Torsion, Autosomal Dominant	Depression, Dysphagia, Abnormal posturing	OMIM:128100
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Diarrhea, Chronic mucocutaneous candidiasis, Absence of l...	ORPHA:79124
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Abnormality of the vertebral column, Azoospermia, Sprengel anomaly, Ab...	OMIM:601076
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Keratoconjunctivitis sicca, Iron def...	ORPHA:309031
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Lethargy, Feeding difficulties	ORPHA:276580
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Congenital hip dislocation, Failure to thrive, Shoulder girdle muscle ...	ORPHA:2020
Myh9-Related Disease	Nephropathy, Nephritis, Renal insufficiency, Spontaneous, recurrent epistaxis, Proteinuria, Myoca...	ORPHA:182050
Microphthalmia, Syndromic 13	Kyphoscoliosis	OMIM:300915
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Lethargy, Vomiting	OMIM:600649
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Glucose-Galactose Malabsorption	Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, Abdominal distention	ORPHA:35710
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Shallow acetabular fossae, Toe syndactyly, Broad thumb, Hypoplastic iliac wing, Cryptorchidism, T...	OMIM:609945
Hypercalcemia, Infantile, 1	Lethargy, Vomiting	OMIM:143880
Ullrich Congenital Muscular Dystrophy 2	Joint hypermobility, Flexion contracture, High palate, Kyphoscoliosis	OMIM:616470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Macroglossia, Tip-toe gait, Shoulder girdle muscle weakness, Elbow contracture, Difficulty walkin...	OMIM:606612
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh...	ORPHA:2232
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Acrodysostosis 2 With Or Without Hormone Resistance	Cone-shaped epiphysis, Brachydactyly, Short metatarsal, Advanced ossification of carpal bones, Sh...	OMIM:614613
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Unilateral renal agenesis, Sandal gap, Supernumerary nipple, Camptodactyly of finger, Bicoronal s...	OMIM:619951
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Thoracic hemiv...	OMIM:268310
Hyperinsulinism Due To Hnf1A Deficiency	Lethargy, Feeding difficulties	ORPHA:324575
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas...	OMIM:620138
X-Linked Intellectual Disability, Hedera Type	Hyporeflexia of upper limbs, Inability to walk, Obesity, Dysmetria, Gait disturbance, Unsteady ga...	ORPHA:93952
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Kyphosis, Tip-toe gait, Elbow flexion contracture, Joint...	ORPHA:98863
Whim Syndrome	Pneumonia, Recurrent pneumonia, Verrucae, Lymphadenitis, Parotitis, Cutaneous melanoma, Lymphopen...	ORPHA:51636
Ane Syndrome	Decreased response to growth hormone stimulation test, Multiple joint contractures, Kyphoscoliosi...	ORPHA:157954
Osteogenesis Imperfecta, Type Viii	Thin ribs, Radial bowing, Barrel-shaped chest, Decreased skull ossification, Multiple prenatal fr...	OMIM:610915
Cortical Dysplasia, Complex, With Other Brain Malformations 11	High, narrow palate, High palate, Ileus, Synophrys	OMIM:620156
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Failure to thrive, Broad ribs, Joint stiffness, Genu valgum, Short neck, Mu...	ORPHA:583
Immunodeficiency 23	Allergic rhinitis, Scoliosis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased...	OMIM:615816
Shprintzen-Goldberg Craniosynostosis Syndrome	Thin ribs, Joint contracture of the hand, Genu valgum, Cryptorchidism, Arachnodactyly, Talipes eq...	OMIM:182212
Marshall Syndrome	High palate, Genu valgum, Cleft palate, Osteoarthritis	ORPHA:560
Cog1-Cdg	Posterior rib gap, Osteopenia, Rhizomelia, Failure to thrive, Butterfly vertebrae, High palate, K...	ORPHA:263508
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	2-3 toe syndactyly, Premature ovarian insufficiency, Scoliosis, Kyphoscoliosis	ORPHA:391307
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tu...	ORPHA:85184
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Neuroendocrine neoplasm, Anorexia, Neoplasm of the nervous system, Episod...	ORPHA:100086
Mcdonough Syndrome	Bilateral single transverse palmar creases, Cryptorchidism, Cachexia, Pectus excavatum, Scoliosis...	ORPHA:2471
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c...	OMIM:608836
Systemic Lupus Erythematosus	Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis	OMIM:152700
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Cryptorchidism, Radial he...	OMIM:146510
Baller-Gerold Syndrome	Finger aplasia, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the patella, Bowing of th...	ORPHA:1225
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Supernumerary nipple, Bilateral single transverse palmar creases, P...	ORPHA:261349
Obesity Due To Melanocortin 4 Receptor Deficiency	Obesity, Childhood-onset truncal obesity, Hypertriglyceridemia	ORPHA:71529
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Platyspondyly, Metaphyseal irregularity, Metaphyseal cupping, Rhizomelia, Flared metaphysis, Shor...	OMIM:608940
Achondrogenesis, Type Ib	Abdominal distention	OMIM:600972
Cerebral Creatine Deficiency Syndrome 1	Vomiting, Ileus, Aganglionic megacolon, Feeding difficulties in infancy, Constipation	OMIM:300352
Vacterl/Vater Association	Multicystic kidney dysplasia, Finger syndactyly, Cryptorchidism, Anal atresia, Ectopic kidney, Hy...	ORPHA:887
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Long eyelashes, Lethargy, Synophrys	OMIM:619064
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Vomiting, Lethargy, Diarrhea, Decreased liver function	ORPHA:42
C1Q Deficiency 2	Discoid lupus rash, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Bronchiectasis	OMIM:620321
Hereditary Fructose Intolerance	Diarrhea, Vomiting, Nausea, Chronic hepatic failure, Lethargy, Constipation, Abdominal distention...	ORPHA:469
Leprechaunism	Megarectum, Facial hypertrichosis, Hypertrichosis, Abdominal distention, Rectal prolapse	ORPHA:508
Blue Diaper Syndrome	Nephrocalcinosis, Hyperphosphatemia, Increased body weight, Blue urine, Hypercalcemia	ORPHA:94086
Cleidocranial Dysplasia 2	Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Genu valgum, Delayed pubic bone o...	OMIM:620099
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Lethargy, Vomiting, Protein avoidance	OMIM:237300
19P13.12 Microdeletion Syndrome	Precocious puberty, Hypospadias, Toe clinodactyly, Arthrogryposis multiplex congenita, Finger syn...	ORPHA:254346
Isovaleric Acidemia	Lethargy, Vomiting	OMIM:243500
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Lethargy, Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting	OMIM:201475
Fraser Syndrome 2	Intestinal malrotation, Hypoplasia of the thymus, Short neck, Rectal atresia, Abdominal distentio...	OMIM:617666
Spinocerebellar Ataxia, Autosomal Recessive 31	Lumbar kyphoscoliosis, Pectus excavatum, Ataxia, Clinodactyly of the 5th finger, High palate, Dys...	OMIM:619422
Combined Oxidative Phosphorylation Deficiency 7	Paralytic ileus, Dysphagia	OMIM:613559
Spastic Paraplegia 46, Autosomal Recessive	Spastic gait, Limb dysmetria, Ankle clonus, Upper limb dysmetria, Urinary incontinence, Infertili...	OMIM:614409
Hutchinson-Gilford Progeria Syndrome	Limitation of joint mobility, Limited hip movement, Ankyloglossia, Severe failure to thrive, Weig...	ORPHA:740
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Diarrhea, Impaired T cell function, Hypogonadism, Decreased testicular size, Decreased serum test...	OMIM:201100
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas...	OMIM:274000
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Pectus excavatum, Kyphosis, Cervical ribs	ORPHA:77300
Trisomy 1Q	Small scrotum, Multicystic kidney dysplasia, Toe syndactyly, Abnormal rib morphology, Camptodacty...	ORPHA:261344
Acheiropody	Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C...	OMIM:200500
Benign Samaritan Congenital Myopathy	Lethargy	ORPHA:324581
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T...	OMIM:272460
Currarino Syndrome	Anal stenosis, Gastrointestinal obstruction, Chronic constipation, Anal fistula, Perianal abscess...	OMIM:176450
Familial Thyroid Dyshormonogenesis	Macroglossia, Lethargy, Feeding difficulties in infancy, Constipation	ORPHA:95716
Lipodystrophy, Congenital Generalized, Type 4	Ileus, Hirsutism, Constipation, Dysphagia, Feeding difficulties, Pyloric stenosis	OMIM:613327
Gm1 Gangliosidosis	Aspiration pneumonia, Abnormal scrotum morphology, Weight loss, Ataxia, Unsteady gait, Dysphagia,...	ORPHA:354
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Abnormal epiphysis morphology, Slender long bone, Carpal osteolysis, Camptodactyly of finger, Met...	ORPHA:2774
Van Den Ende-Gupta Syndrome	Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Ar...	OMIM:600920
Achondrogenesis, Type Ii	Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Absent vertebral body ...	OMIM:200610
Hyperuricemia, Hprt-Related	Hyperuricosuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis	OMIM:300323
Craniometadiaphyseal Dysplasia	Osteopenia, Flared metaphysis, Broad long bones, Broad ribs, Sclerosis of skull base, Genu valgum...	OMIM:269300
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Conjunctivitis, Arthritis	OMIM:617772
Ellis-Van Creveld Syndrome	Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Narrow chest, Hypoplastic i...	OMIM:225500
Pneumocystosis	Neoplasm, Interstitial pneumonitis, Increased circulating antibody level, Acute infectious pneumo...	ORPHA:723
Thanatophoric Dysplasia Type 1	Platyspondyly, Hypoplastic ilia, Narrow chest, Micromelia, Joint stiffness, Femoral bowing, Bowin...	ORPHA:1860
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteomyelitis, Skin rash, Abscess, Splenomegaly, Pustule, Neutrophilia, Hepatomegaly, Stomatitis,...	OMIM:612852
Orofaciodigital Syndrome Iii	Postaxial foot polydactyly, Short sternum, Postaxial hand polydactyly, Pectus excavatum, Kyphosis	OMIM:258850
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Kyphosis, Tip-toe gait, Elbow flexion contracture, Joint...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Kyphosis, Tip-toe gait, Elbow flexion contracture, Joint...	ORPHA:98853
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Scoliosis, Thin ribs	OMIM:615220
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Lethargy	ORPHA:276608
Gorlin Syndrome	Abnormal vertebral morphology, Palmar pits, Vertebral wedging, Abnormal rib morphology, Cryptorch...	ORPHA:377
Congenital Alveolar Capillary Dysplasia	Abnormal vertebral morphology, Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotat...	ORPHA:210122
Fgfr2-Related Bent Bone Dysplasia	Hepatosplenomegaly, Extramedullary hematopoiesis	ORPHA:313855
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Decreased circulating anti...	OMIM:601495
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Lactose intolerance, Hemangioma, Protuberant abdomen, Curly hair, Intestinal polyp	ORPHA:457485
Brachytelephalangic Chondrodysplasia Punctata	Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Stippling of the epiph...	ORPHA:79345
Campomelia, Cumming Type	Clubbing of toes, Multicystic kidney dysplasia, Micromelia, Abnormal thorax morphology, Bowing of...	ORPHA:1318
Opsismodysplasia	Hypoplastic ischia, Metaphyseal cupping, Hypoplasia of the odontoid process, Rhizomelia, Narrow c...	OMIM:258480
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Tarsal synostosis, Abnormality of the ankle, Abnormality of the wrist, Carpal synostosis	ORPHA:2010
Occipital Horn Syndrome	Synostosis of joints, Delayed cranial suture closure, Osteomalacia, Humerus varus, Genu valgum, E...	ORPHA:198
Distal Triplication 15Q	Abnormal sternum morphology, Horseshoe kidney, Large for gestational age, Arachnodactyly, Hydrone...	ORPHA:314588
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Hematuria, Renal tubular ep...	ORPHA:95455
Autosomal Dominant Popliteal Pterygium Syndrome	Small scrotum, Popliteal pterygium, Toe syndactyly, Finger syndactyly, Bifid scrotum, Joint stiff...	ORPHA:1300
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Hyperaldosteronism, Familial, Type I	Decreased circulating renin level	OMIM:103900
Alopecia Totalis	Type I diabetes mellitus, Inflammation of the large intestine	ORPHA:700
Idiopathic Camptocormia	Myelitis, Myositis, Abnormal inflammatory response, Osteoarthritis, Abnormal intervertebral disk ...	ORPHA:1320
Cystinuria	Hematuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis	ORPHA:214
Basal Ganglia Disease, Biotin-Thiamine Responsive	Truncal titubation, Lethargy, Vomiting, Dysphagia	OMIM:607483
Carnitine Deficiency, Systemic Primary	Vomiting, Lethargy, Diarrhea	OMIM:212140
Xylt1-Cdg	Acne, Broad thumb, Joint dislocation, Clinodactyly, Flared metaphysis, Broad ribs, Joint hypermob...	ORPHA:370930
Cohen Syndrome	High, narrow palate, Finger syndactyly, Sandal gap, Aplasia/Hypoplasia of the tongue, Failure to ...	ORPHA:193
Sialidosis Type 2	Hepatomegaly, Kyphosis, Splenomegaly	ORPHA:87876
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis	OMIM:156232
Pseudo-Torch Syndrome 3	Anemia, Lymphadenitis, Congenital thrombocytopenia, Leukocytosis	OMIM:618886
Multiple Myeloma	Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Splenomegaly, An...	ORPHA:29073
Prader-Willi Syndrome	Small scrotum, Small hand, Clinodactyly, Genu valgum, Cryptorchidism, Narrow palm, Primary amenor...	OMIM:176270
Hypouricemia, Renal, 2	Hypouricemia, Nephrolithiasis	OMIM:612076
Mosaic Trisomy 9	Limitation of joint mobility, Elbow dislocation, Cryptorchidism, Talipes equinovarus, Short neck,...	ORPHA:99776
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Finger syndactyly, Delayed cranial suture closure, Cryptorchidism, ...	ORPHA:2658
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Camptodactyly of finger, Joint contracture of the 5th finger, Arachnodactyly, Scoliosis, Kyphosis	ORPHA:1883
Primary Ciliary Dyskinesia	Abnormal sperm motility, Polysplenia, Intestinal malrotation, Recurrent otitis media, Chronic sin...	ORPHA:244
Pyruvate Dehydrogenase E1-Alpha Deficiency	Lethargy	OMIM:312170
Late-Onset Isolated Acth Deficiency	Diarrhea, Pituitary adenoma, Nausea and vomiting, Premature ovarian insufficiency, Lethargy, Abdo...	ORPHA:199299
Melas	Type I diabetes mellitus, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Type II diabetes mel...	ORPHA:550
Wieacker-Wolff Syndrome	Hip dislocation, Narrow chest, Arthrogryposis multiplex congenita, Congenital foot contractures, ...	OMIM:314580
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly, Narrow chest, Cone-shaped epiphysis, Abnormal scapula morphology, Rhizomelic arm s...	ORPHA:93317
Tarp Syndrome	Extramedullary hematopoiesis, Cryptorchidism, Abnormal duodenum morphology, Glossoptosis, Scolios...	ORPHA:2886
Psoriasis-Related Juvenile Idiopathic Arthritis	Uveitis, Limitation of joint mobility, Polyarticular arthritis, Sacroiliac arthritis, Abnormal sh...	ORPHA:85436
Mucopolysaccharidosis, Type Vii	Hypoplasia of the odontoid process, Limitation of joint mobility, Recurrent otitis media, Genu va...	OMIM:253220
Congenital Factor Xiii Deficiency	Inflammation of the large intestine, Hepatic failure, Myeloid leukemia	ORPHA:331
Wilson Disease	Aminoaciduria, Chondrocalcinosis, Glycosuria, Osteomalacia, Hyperphosphaturia, Renal tubular dysf...	OMIM:277900
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Supernumerary ri...	OMIM:612447
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Protuberant abdomen, Nephroblastoma	OMIM:618272
Psoriasis 14, Pustular	Furrowed tongue, Psoriasiform dermatitis, Leukocytosis, Pustule, Oligoarthritis, Geographic tongu...	OMIM:614204
Monosomy 22	Gonadal neoplasm, Meningioma, Schwannoma, Hepatosplenomegaly, Aplasia of the thymus, Sarcoma, Seb...	ORPHA:96123
Trisomy 20P	Finger syndactyly, Abnormality of the ureter, Cryptorchidism, Short neck, Hypospadias, Preaxial h...	ORPHA:261318
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy	OMIM:610006
Classic Pantothenate Kinase-Associated Neurodegeneration	Dysphagia, Abnormal posturing	ORPHA:216866
Kenny-Caffey Syndrome, Type 1	Thin ribs, Small hand, Slender long bone, Delayed closure of the anterior fontanelle, Long clavic...	OMIM:244460
Multifocal Atrial Tachycardia	Lethargy, Feeding difficulties in infancy	ORPHA:3282
Spastic Paraplegia 53, Autosomal Recessive	Pectus carinatum, Kyphosis, Upper limb hypertonia	OMIM:614898
Cranioectodermal Dysplasia 1	Chronic kidney disease, Renal magnesium wasting, Stage 1 chronic kidney disease, Stage 5 chronic ...	OMIM:218330
Glycogen Storage Disease Ia	Gout, Pancreatitis, Delayed puberty, Protuberant abdomen, Hepatomegaly, Intermittent diarrhea, He...	OMIM:232200
Genitourinary And/Or Brain Malformation Syndrome	Clitoral hypertrophy, Uterus didelphys, Ileal atresia, Gonadal dysgenesis, Joint stiffness, Strea...	OMIM:618820
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Abnormality ...	ORPHA:2902
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Aplasia/Hypoplasia of the pubic bone, Talipes equinovarus, Short neck, Hypoplastic...	OMIM:269150
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hip dislocation, Joint subluxation, Joint hypermobility, Wormian bones, Talipes equinovarus, Hall...	OMIM:617821
Myopathy, Centronuclear, 2	Talipes equinovarus, Hyperlordosis, Scapular winging, High palate, Flexion contracture, Scoliosis...	OMIM:255200
Dysostosis, Stanescu Type	Macroglossia, Abnormal epiphysis morphology, Micromelia, Persistent open anterior fontanelle, Mas...	ORPHA:1798
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Vomiting, Gastroesophageal reflux, Lethargy, Abdominal distention, Chronic diarrhea	OMIM:620233
Chromosome 3Q13.31 Deletion Syndrome	Decreased testicular size, Cryptorchidism, Shawl scrotum, Micropenis, High palate, Proximal place...	OMIM:615433
Bullous Impetigo	Septic arthritis, Recurrent bacterial skin infections, Pustule	ORPHA:36237
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia, Angiosarcoma, Recurrent skin infect...	ORPHA:90186
Systemic Sclerosis	Chronic kidney disease, Intestinal bleeding, Finger swelling, Glomerulonephritis, Albuminuria, Re...	ORPHA:90291
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Nephritis, Pyelonephritis, Renal dysplasia, Unilateral renal atrophy	OMIM:314300
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Periodontitis, Hemophagocytosis, Abnormal natural killer ce...	ORPHA:167
Camurati-Engelmann Disease	Limitation of joint mobility, Abnormal tibia morphology, Slender build, Genu valgum, Cachexia, Me...	ORPHA:1328
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Pancreatitis, Parathyroid adenoma	OMIM:145980
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Ataxia, Gastroesophageal reflux, Arthrogryposis multiplex congenita, Ulnar deviation of the hand ...	ORPHA:562528
Marshall Syndrome	Platyspondyly, Hypoplastic ilia, Bifid uvula, Radial bowing, Recurrent otitis media, Irregular fe...	OMIM:154780
Marfanoid Habitus With Situs Inversus	Genu recurvatum, Pectus carinatum, Arachnodactyly, Scoliosis, Kyphosis, Hyperextensibility of the...	OMIM:609008
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Lethargy, Abnormality of the gastrointestinal tract	ORPHA:2089
Acute Promyelocytic Leukemia	Anorexia, Pancytopenia, Leukopenia, Leukocytosis, Lymphadenopathy, Neutropenia, Thrombocytopenia,...	ORPHA:520
Neutral Lipid Storage Disease With Myopathy	Chronic pancreatitis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Diabetes mellitus	OMIM:610717
Joubert Syndrome 35	Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections	OMIM:618161
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Gastroesophageal reflux, Feeding difficulties, Abdominal distention	OMIM:620275
Moderate Hemophilia A	Gastrointestinal hemorrhage, Limitation of joint mobility, Joint swelling, Hip contracture, Arthr...	ORPHA:169805
Intellectual Developmental Disorder, X-Linked, Syndromic 34	High, narrow palate, Gastroesophageal reflux, Synostosis of the proximal phalanx of the thumb wit...	OMIM:300967
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Hemophilia B	Gastrointestinal hemorrhage, Hematuria, Hematemesis, Osteoarthritis, Melena, Joint hemorrhage	OMIM:306900
Microphthalmia, Lenz Type	Hypospadias, Hydroureter, Finger syndactyly, Abnormal clavicle morphology, Camptodactyly of finge...	ORPHA:568
Oligoarticular Juvenile Idiopathic Arthritis	Rheumatoid arthritis, Abnormality of the ankle, Failure to thrive, Joint hypermobility, Knee oste...	ORPHA:85410
Temtamy Preaxial Brachydactyly Syndrome	Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metatarsal, Hitchhik...	OMIM:605282
Seckel Syndrome 8	Ectopic kidney, Kyphoscoliosis	OMIM:615807
Dihydropyrimidinase Deficiency	Lethargy, Anal atresia, Feeding difficulties	OMIM:222748
Gapo Syndrome	Tubulointerstitial fibrosis	OMIM:230740
Baralle-Macken Syndrome	High, narrow palate, Inability to walk, Obesity, Urinary incontinence, Kyphosis, Tapered finger	OMIM:619255
Alkaptonuria	Elevated urinary homogentisic acid, Limited hip movement, Decreased glomerular filtration rate, D...	OMIM:203500
Acquired Generalized Lipodystrophy	Lymphoma, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic steatosis, Polycystic ov...	ORPHA:79086
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Xerostomia, Skin rash, Nephrolithiasis, Keratoconj...	OMIM:617321
Microphthalmia, Syndromic 9	Multilobulated spleen, Hypoplastic spleen, Cryptorchidism	OMIM:601186
Mitochondrial Complex I Deficiency, Nuclear Type 15	Flexion contracture, Kyphosis, Failure to thrive	OMIM:618237
Pontocerebellar Hypoplasia, Type 10	Gastroesophageal reflux, Cryptorchidism, Kyphoscoliosis, Short neck, High palate, Tapered finger	OMIM:615803
Eec Syndrome	Xerostomia, Keratitis, Lymphoma, Decreased response to growth hormone stimulation test, Anterior ...	ORPHA:1896
Intellectual Developmental Disorder, Autosomal Dominant 26	Small for gestational age, Decreased palmar creases, Clinodactyly of the 5th finger, Scoliosis, A...	OMIM:615834
Familial Cold Autoinflammatory Syndrome 1	Leukocytosis, Skin rash, Arthritis, Conjunctivitis, Uveitis	OMIM:120100
Cole-Carpenter Syndrome 2	Platyspondyly, Thin ribs, Lambdoidal craniosynostosis, Coronal craniosynostosis, Wide cranial sut...	OMIM:616294
Koolen-De Vries Syndrome	High, narrow palate, Hypospadias, Kyphosis, Vesicoureteral reflux, Cryptorchidism, Vertebral segm...	ORPHA:96169
Lig4 Syndrome	Acute leukemia, Lymphoma, Pancytopenia, Malabsorption, Leukocytosis, Type II diabetes mellitus, C...	ORPHA:99812
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Short tibia, Bell-shaped thorax, Cryptorchidism, Anal atresia, Flat acetabular roof, Patent ductu...	OMIM:616300
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Osteomalacia, Difficulty walking, Genu varum, Secondary hyperpar...	ORPHA:289157
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Micromelia, Femoral retroversion, Scoliosis, Kyphosis	ORPHA:79107
Multiple Pterygium Syndrome, Lethal Type	Thin ribs, Joint dislocation, Short finger, Akinesia, Increased susceptibility to fractures, Mult...	OMIM:253290
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Limitation of joint mobility, Arthritis	ORPHA:2582
Multiple Endocrine Neoplasia Type 4	Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina...	ORPHA:276152
Wrinkly Skin Syndrome	Congenital hip dislocation, Osteopenia, Failure to thrive, Multiple palmar creases, Cryptorchidis...	ORPHA:2834
Holzgreve Syndrome	Abnormal morphology of ulna, Hand polydactyly, Abnormal metacarpal morphology, Abnormal rib morph...	ORPHA:2167
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Thin ribs, Slender long bone, Vesicoureteral reflux, Decreased calvarial ossification, Decreased ...	OMIM:618265
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Hypohidrosis, Colitis, Chronic diarrhea, Bronchiectasis	OMIM:301220
Paternal Uniparental Disomy Of Chromosome 5	Rhizomelic arm shortening, Short lower limbs, Abnormal fibular epiphysis morphology, Kyphoscoliosis	ORPHA:96190
Sarcoidosis	Nephrocalcinosis, Parotitis, Heart block, Renal insufficiency, Portal hypertension, Nephrolithias...	ORPHA:797
Pfeiffer Syndrome	Broad thumb, Synostosis of carpal bones, Finger syndactyly, Short neck, Hyperlordosis, Brachydact...	ORPHA:710
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Genu recurvatum, Pectus excavatum, Calcaneovalgus deformity, Joint hypermobility	OMIM:225320
Hypocomplementemic Urticarial Vasculitis	Joint dislocation, Episcleritis, Skin rash, Renal insufficiency, Hematuria, Proteinuria, Arthriti...	ORPHA:36412
Lenz-Majewski Hyperostotic Dwarfism	Delayed cranial suture closure, Cutaneous finger syndactyly, Humeroradial synostosis, Cryptorchid...	OMIM:151050
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Narrow chest, Calcification of the auricular cartilage, Abnormal form of the vertebral bodies, Bi...	ORPHA:3042
Cartilage-Hair Hypoplasia	Asymmetry of the thorax, Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoid proce...	OMIM:250250
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Macroglossia, Tip-toe gait, Shoulder girdle muscle weakness, Difficulty walking, Exercise-induced...	OMIM:607155
Immunodeficiency 55	Diarrhea, Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Recurrent skin infecti...	OMIM:617827
Antley-Bixler Syndrome	Narrow chest, Camptodactyly of finger, Delayed cranial suture closure, Femoral bowing, Arachnodac...	ORPHA:83
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Lethargy, High palate, Feeding difficulties	OMIM:604377
Combined Oxidative Phosphorylation Defect Type 7	Paralytic ileus, Oral-pharyngeal dysphagia, Gastrostomy tube feeding in infancy	ORPHA:254930
Alport Syndrome 1, X-Linked	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag...	OMIM:301050
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Bifid femur, Abnormal form of the vertebral bodies, Abnormal rib morphology, E...	ORPHA:2769
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Block vertebrae, Absent external genitalia, Supernumerary vertebrae, Aplasia of the va...	OMIM:271520
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Hypoplastic iliac wing, Delayed pubic bone ossification, Long second metaca...	OMIM:119600
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti...	OMIM:613960
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Gastroesophageal reflux, Frontal hirsutism, High palate, Sparse hair, Rectal prolapse, Feeding di...	OMIM:617157
Hermansky-Pudlak Syndrome 2	Recurrent pneumonia, Gastroesophageal reflux, Periodontitis, Enlarged platelet dense granules, Re...	OMIM:608233
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Primary hyperparathyroidism, Pancreatitis, Multiple lipomas	OMIM:600740
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Aminoaciduria, Hypertrophic cardiomyopathy, Lacticaciduria, Tubulointerstitial nephritis, Cholang...	OMIM:124000
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Intes...	OMIM:208540
Septopreoptic Holoprosencephaly	Abnormal vertebral morphology, Abnormal rib morphology	ORPHA:280195
Pseudohypoparathyroidism, Type Ib	Low urinary cyclic AMP response to PTH administration, Obesity, Hyperphosphatemia, Hypocalcemia	OMIM:603233
Pediatric Systemic Lupus Erythematosus	Alopecia, Diarrhea, Vomiting, Abnormality of the gastrointestinal tract, Abdominal distention, Ab...	ORPHA:93552
Seckel Syndrome 10	Elevated circulating luteinizing hormone level, Hepatic steatosis, Elevated circulating follicle ...	OMIM:617253
Cardiofacioneurodevelopmental Syndrome	Abdominal situs inversus, Cryptorchidism, Feeding difficulties in infancy, Asplenia, Kyphosis, Cl...	OMIM:619123
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Vomiting, Cholesta...	ORPHA:53035
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Polymicrogyria, Splenic cyst, Cryptorchidism, Pancreatitis, High p...	OMIM:620371
Stuve-Wiedemann Syndrome 1	Thin ribs, Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Short neck, Hypoplasti...	OMIM:601559
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Delayed cranial suture closure, Rectoureth...	OMIM:603116
Dyrk1A-Related Intellectual Disability Syndrome	Toe syndactyly, Cryptorchidism, Arachnodactyly, Anterior pituitary hypoplasia, Hypospadias, Duode...	ORPHA:464306
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Femoral bowing, Biconcave vertebral bodies, Bowing of the long bones, Wormian bones, V...	OMIM:617952
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Short 5th finger, Slender finger, Small hand, Gastroesophageal reflux, Inability to walk, Obesity...	OMIM:618443
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Supernumerary nipple, Recurrent otitis media, Overlapping toe, Talipes equinovarus, Short neck, B...	OMIM:213980
Hand-Foot-Genital Syndrome	Short 5th finger, Shortening of all middle phalanges of the fingers, Short 1st metacarpal, Ulnar ...	OMIM:140000
Interstitial Cystitis	Functional abnormality of the bladder, Abnormality of the urethra, Urinary bladder inflammation, ...	ORPHA:37202
Hemophilia A	Joint hemorrhage, Hematemesis, Osteoarthritis, Melena	OMIM:306700
Primary Dystonia, Dyt4 Type	Eunuchoid habitus, Kyphoscoliosis, Gait disturbance, Dysphagia, Dysdiadochokinesis	ORPHA:98805
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Hepatic failure, Hypertrichosis, Abdominal distention, High palate, C...	OMIM:235255
Magel2-Related Prader-Willi-Like Syndrome	Small scrotum, Small hand, Xerostomia, Cryptorchidism, Increased body weight, Primary amenorrhea,...	ORPHA:398069
Cutis Laxa, Autosomal Recessive, Type Iic	Hand clenching, Nephrocalcinosis, Bilateral cryptorchidism, Overlapping toe, Median cleft palate,...	OMIM:617402
Crigler-Najjar Syndrome	Lethargy	ORPHA:205
Kagami-Ogata Syndrome	Limitation of joint mobility, Thoracic hypoplasia, Large for gestational age, Bell-shaped thorax,...	ORPHA:254519
Cowden Syndrome 5	Thyroid adenoma, Colonic diverticula, Scoliosis, Kyphosis, Subcutaneous lipoma, Meningioma, Goite...	OMIM:615108
Congenital Heart Defects And Skeletal Malformations Syndrome	Sandal gap, Failure to thrive, Intestinal malrotation, Cryptorchidism, Joint hypermobility, Arach...	OMIM:617602
Cowden Syndrome 6	Thyroid adenoma, Colonic diverticula, Scoliosis, Kyphosis, Subcutaneous lipoma, Meningioma, Goite...	OMIM:615109
Meconium Ileus	Microcolon, Chronic diarrhea, Meconium ileus	OMIM:614665
Cantú Syndrome	Platyspondyly, Short distal phalanx of finger, Narrow chest, Finger syndactyly, Broad ribs, Cuboi...	ORPHA:1517
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Lethargy, Vomiting	OMIM:614299
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Osteopenia, Pathologic fracture, Recurrent fractures, Increased susceptibility to ...	OMIM:259770
Bardet-Biedl Syndrome 3	Renal hypoplasia, Obesity	OMIM:600151
Thyroid Hypoplasia	Macroglossia, Constipation, Abdominal distention	ORPHA:95720
2Q31.1 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Cryptorchidism, Short neck, Abnorma...	ORPHA:251014
Fountain Syndrome	Short distal phalanx of finger, Coarse metaphyseal trabecularization, Abnormal form of the verteb...	ORPHA:3219
Autosomal Recessive Robinow Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Fing...	ORPHA:1507
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Lethargy	OMIM:236270
Letterer-Siwe Disease	Abdominal distention, Hepatosplenomegaly, Seborrheic dermatitis, Neutropenia, Thrombocytopenia, A...	OMIM:246400
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Gait disturbance, Scoliosis, Kyphosis, Truncal obesity	ORPHA:2429
4Q21 Microdeletion Syndrome	Small hand, Toe syndactyly, Micromelia, Short neck, Short foot, Scoliosis, Kyphosis, Short palm	ORPHA:238750
Aspergillosis	Pneumonia, Keratitis, Abnormality of the vertebral column, Hepatitis, Abnormal rib morphology, In...	ORPHA:1163
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Nephropathy, Normocytic anemia, Elevated circulating creatinine concentration, Proteinuria, Glome...	ORPHA:247691
X-Linked Intellectual Disability Due To Gria3 Mutations	Genu recurvatum, Slender build, Cryptorchidism, Joint hypermobility, Hydronephrosis, Micropenis, ...	ORPHA:364028
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Contractures of the large joints, Vesicoureteral reflux, Triphalangea...	ORPHA:3078
Thanatophoric Dysplasia Type 2	Platyspondyly, Narrow chest, Micromelia, Brachydactyly, Short thorax, Abnormal metaphysis morphol...	ORPHA:93274
Muckle-Wells Syndrome	Nephropathy, Nephrotic syndrome, Camptodactyly of finger, Recurrent aphthous stomatitis, Episcler...	ORPHA:575
Multiple Pterygium Syndrome, X-Linked	Thin ribs, Joint dislocation, Short finger, Increased susceptibility to fractures, Multiple ptery...	OMIM:312150
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Lethargy, Anorexia	OMIM:611590
Al Amyloidosis	Gastrointestinal hemorrhage, Xerostomia, Gastroparesis, Abnormality of the gastrointestinal tract...	ORPHA:85443
Ciliary Dyskinesia, Primary, 1	Pneumonia, Chronic sinusitis, Chronic rhinitis, Asplenia, Chronic otitis media, Bronchiectasis	OMIM:244400
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	High, narrow palate, Gastroesophageal reflux, Failure to thrive, Talipes valgus, Synostosis invol...	ORPHA:466791
Pfapa Syndrome	Weight loss, Arthritis, Infectious encephalitis	ORPHA:42642
Congenital Myopathy 22A, Classic	Waddling gait, Knee contracture, Hip contracture, Thoracic scoliosis, Achilles tendon contracture...	OMIM:620351
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy	OMIM:618120
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge...	OMIM:223900
Liver Failure, Infantile, Transient	Acute hepatic failure, Feeding difficulties in infancy, Vomiting, Abdominal distention	OMIM:613070
Kasabach-Merritt Phenomenon	Neoplasm of the skin, Capillary hemangioma, Hypertrichosis, Hemangioma, Tufted angioma, Abdominal...	ORPHA:2330
Trichorhinophalangeal Syndrome, Type Ii	Multiple long-bone exostoses, Rib exostoses, Gastroesophageal reflux, Recurrent pneumonia, Vomiti...	OMIM:150230
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Vomiting, Lethargy, Feeding difficulties in infancy	OMIM:210200
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Cryptorchidism, Flexion contracture of finger, Short foot, Hypospadias, Duodenal atresia, Posteri...	ORPHA:464311
Turner Syndrome Due To Structural X Chromosome Anomalies	Inflammation of the large intestine, Recurrent otitis media, Genu valgum, Gastrointestinal angiod...	ORPHA:99413
Mosaic Monosomy X	Inflammation of the large intestine, Recurrent otitis media, Genu valgum, Gastrointestinal angiod...	ORPHA:99228
Monosomy X	Inflammation of the large intestine, Recurrent otitis media, Genu valgum, Gastrointestinal angiod...	ORPHA:99226
Turner Syndrome	Inflammation of the large intestine, Recurrent otitis media, Genu valgum, Gastrointestinal angiod...	ORPHA:881
Subaortic Stenosis-Short Stature Syndrome	Acne, Synostosis of carpal bones, Obesity, Bilateral single transverse palmar creases, Short neck...	ORPHA:3191
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Arachnodactyly, Dysphagia, Gastroesophageal reflux, Absent thumb, Failure to ...	ORPHA:500150
Treacher-Collins Syndrome	Multiple enchondromatosis, Abnormality of the vertebral column, Cryptorchidism, Glossoptosis, Hyp...	ORPHA:861
Proximal 16P11.2 Microdeletion Syndrome	Abnormal vertebral morphology, Multicystic kidney dysplasia, Gastroesophageal reflux, Failure to ...	ORPHA:261197
Mitochondrial Complex I Deficiency, Nuclear Type 11	Osteoporosis, Scoliosis, Kyphosis, Failure to thrive	OMIM:618234
Sim1-Related Prader-Willi-Like Syndrome	Xerostomia, Nasogastric tube feeding, Hypogonadism, Hypogonadotropic hypogonadism, Lethargy, Prim...	ORPHA:398079
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Small hand, Gastroesophageal reflux, Failure to thrive, Hypogonadism, Cryptorchidism, Gait distur...	ORPHA:500055
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Goiter, Nausea and vomiting, Leukocytosis, Hashimoto thyroiditis, Hypothyroidism, Thrombocytopenia	ORPHA:83601
Multiple Endocrine Neoplasia Type 2	Diarrhea, Abdominal distention, Abnormal tongue morphology, Neuroma, Ganglioneuromatosis, Pheochr...	ORPHA:653
Waardenburg Syndrome, Type 3	Joint contracture of the hand, Clinodactyly, Camptodactyly of finger, Carpal synostosis, Cutaneou...	OMIM:148820
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Thin ribs, Bifid scrotum, Glandular hypospadias, Penile hypospadias, Cryptorchidism, Joint hyperm...	ORPHA:456328
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol...	ORPHA:1323
Hereditary Orotic Aciduria	Anemia, Splenomegaly, Impaired T cell function	ORPHA:30
Spinal Dysplasia, Anhalt Type	Thoracic hemivertebrae, Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the s...	OMIM:601344
Kid Syndrome	Posterior blepharitis, Psoriasiform dermatitis, Delayed pubic bone ossification, Recurrent skin i...	ORPHA:477
Scrub Typhus	Abdominal pain, Lethargy, Nausea and vomiting	ORPHA:83317
Wiedemann-Rautenstrauch Syndrome	Increased circulating prolactin concentration, Recurrent otitis media, Slender build, Cryptorchid...	ORPHA:3455
Cutis Laxa, Autosomal Recessive, Type Iid	Failure to thrive, Bilateral cryptorchidism, Kyphoscoliosis, Talipes equinovarus, Camptodactyly, ...	OMIM:617403
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o...	OMIM:252500
Lipodystrophy, Congenital Generalized, Type 2	Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Splenomegaly, Polycystic ovaries,...	OMIM:269700
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Male urethral meatus stenosis, Clinodactyly, Difficulty walking, Overlapping t...	ORPHA:464738
3C Syndrome	High, narrow palate, Gastroesophageal reflux, Finger syndactyly, Intestinal malrotation, Abnormal...	ORPHA:7
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Megarectum, Feeding difficulties in infancy, Hirsutism	OMIM:301056
Osteopathia Striata With Cranial Sclerosis	Joint contracture of the hand, Multicystic kidney dysplasia, Fibular aplasia, Arachnodactyly, Tal...	OMIM:300373
Radio-Renal Syndrome	Abnormal form of the vertebral bodies, Micromelia, Short neck, Hypoplasia of the radius, Brachyda...	ORPHA:3015
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Clinodactyly of the 5th finger, Single transverse palmar crease, Kyphoscoliosis	OMIM:620075
N-Acetylglutamate Synthase Deficiency	Lethargy, Vomiting, Anorexia	OMIM:237310
Ivic Syndrome	Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Radioulnar...	ORPHA:2307
Aortic Aneurysm, Familial Thoracic 12	Pectus excavatum, High palate, Scoliosis, Arthritis	OMIM:619825
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Isolated Atp Synthase Deficiency	Hypogonadism, Lethargy	ORPHA:254913
Carnitine Palmitoyl Transferase 1A Deficiency	Lethargy, Hepatic failure	ORPHA:156
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Osteoporosis, Kyphosis	ORPHA:2786
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Hip dislocation, Synostosis of carpal bones, Finger syndactyly, Short middle phalanx of finger, V...	ORPHA:1005
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis...	OMIM:208500
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Microcolon, Abdominal distention	OMIM:619362
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short tibia, Absent gallbladder, Short neck, Anal atresia, Hamartoma of tongue, Septate vagina, H...	OMIM:617925
Junctional Epidermolysis Bullosa With Pyloric Atresia	Congenital pyloric atresia, Nausea and vomiting, Nail dystrophy, Intestinal atresia, Abdominal di...	ORPHA:79403
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Familial Cold Urticaria	Conjunctivitis, Pruritus, Arthritis	ORPHA:47045
Lipodystrophy, Congenital Generalized, Type 1	Hyperinsulinemia, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Cirrhosis, Hepatomegaly, I...	OMIM:608594
Bardet-Biedl Syndrome 21	Horseshoe kidney, Obesity, Overweight	OMIM:617406
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia...	ORPHA:988
Williams Syndrome	Peptic ulcer, Gastroesophageal reflux, Colonic diverticula, Depression, Malabsorption, Nausea and...	ORPHA:904
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Obesity, Joint hypermobility, Hydronephr...	OMIM:620511
Sialuria	Hirsutism, Low posterior hairline, Generalized hirsutism, Hypoplastic nipples, Protuberant abdome...	OMIM:269921
Crisponi Syndrome	Limitation of joint mobility, Camptodactyly of finger, High palate, Flexion contracture, Scoliosi...	ORPHA:1545
Xanthinuria, Type I	Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria	OMIM:278300
Ear-Patella-Short Stature Syndrome	Clitoral hypertrophy, Elbow dislocation, Patellar aplasia, Cryptorchidism, Hypoplastic labia majo...	ORPHA:2554
Holocarboxylase Synthetase Deficiency	Alopecia, Vomiting, Lethargy, Feeding difficulties in infancy	OMIM:253270
Ogden Syndrome	High, narrow palate, Lethargy, Fine hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:276432
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
X-Linked Charcot-Marie-Tooth Disease Type 4	Gait disturbance, Scoliosis, Kyphosis, Ataxia	ORPHA:101078
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Lethargy, Vomiting	OMIM:201450
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Coronal craniosynostosis, Aplastic clavicle, Abnormal clavicle morphology, Eczematoid dermatitis,...	ORPHA:85199
Tropical Calcific Pancreatitis	Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis, Pancreatic calcification,...	OMIM:608189
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Mesomelia, Rhizomelia, Gastroesophageal reflux, Irregular menstruation, Narrow che...	OMIM:616482
Takayasu Arteritis	Gastrointestinal infarctions, Increased inflammatory response, Weight loss, Arthritis, Inflammato...	ORPHA:3287
Fumarase Deficiency	Intrahepatic cholestasis, Hepatic failure, Cutaneous leiomyoma, Polycythemia, Polymicrogyria, Hig...	OMIM:606812
Hermansky-Pudlak Syndrome 1	Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain	OMIM:203300
Noonan Syndrome 14	High, narrow palate, Pectus carinatum, Clinodactyly, Limited elbow extension, Cryptorchidism, Cub...	OMIM:619745
Bardet-Biedl Syndrome 8	Obesity, Hypospadias	OMIM:615985
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Elevated circulating creatinine concentration, Increased blood u...	ORPHA:230
Biemond Syndrome Type 2	Obesity, Hypospadias	ORPHA:141333
Congenital Disorder Of Glycosylation, Type Il	Villous atrophy, Splenomegaly, Short neck, Hepatomegaly, Kyphosis	OMIM:608776
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Diarrhea, Vomiting, Pancytopenia, Decreased circulating IgA leve...	OMIM:275350
Monosomy 9Q22.3	Palmar pits, Abnormality of the vertebral column, Abnormal rib morphology, Large for gestational ...	ORPHA:77301
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Methylcobalamin Deficiency Type Cble	Lethargy, Vomiting, Feeding difficulties	ORPHA:2169
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short 4th toe, Cone-shaped epiphyses of the phalanges of the hand, Short hu...	ORPHA:420794
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Hajdu-Cheney Syndrome	Periodontitis, Decreased skull ossification, Bowing of the long bones, Short neck, Patellar dislo...	ORPHA:955
Body Mass Index Quantitative Trait Locus 20	Tall stature, Obesity	OMIM:618406
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Kyphosis, Cholecystitis, Macrocytic anemia, Splenomegaly, Prol...	OMIM:615512
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Recurrent otitis media, Esophagitis, Macrocytic anemia, Neutro...	OMIM:612562
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Broad ribs, Short ribs, Abnormal rib morphology, Postaxial hand poly...	ORPHA:2519
Congenital Disorder Of Glycosylation, Type Iit	Hypotriglyceridemia, Decreased serum creatinine, Iron deficiency anemia, Decreased HDL cholestero...	OMIM:618885
Vici Syndrome	Cutaneous anergy, Decreased circulating IgG level, Chronic mucocutaneous candidiasis, Lymphopenia...	OMIM:242840
Ovarian Hyperstimulation Syndrome	Nausea and vomiting, Hirsutism, Nausea, Abdominal distention, Abdominal pain	ORPHA:64739
Fryns Syndrome	Thin ribs, Joint contracture of the hand, Cryptorchidism, Short neck, Anal atresia, Hypospadias, ...	OMIM:229850
Aromatic L-Amino Acid Decarboxylase Deficiency	Diarrhea, Gastroesophageal reflux, Lethargy, Constipation, Feeding difficulties in infancy	OMIM:608643
Meningococcal Meningitis	Lethargy, Projectile vomiting, Anorexia	ORPHA:33475
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Elbow flexion contracture, Proximal muscle weakness in upper limbs, Kyphosis, Waddling gait	OMIM:618138
Igg4-Related Dacryoadenitis And Sialadenitis	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Thyroiditis, Myositis	ORPHA:79078
Reactive Arthritis	Inflammation of the large intestine, Osteomyelitis, Joint stiffness, Recurrent aphthous stomatiti...	ORPHA:29207
Mucopolysaccharidosis, Type Ii	Recurrent pneumonia, Diarrhea, Intestinal pseudo-obstruction, Recurrent otitis media, Hepatosplen...	OMIM:309900
You-Hoover-Fong Syndrome	Clinodactyly, Kyphoscoliosis, Brachydactyly, Ataxia, Pectus excavatum, Cleft palate	OMIM:616954
Jaberi-Elahi Syndrome	Hand clenching, Pectus carinatum, Broad-based gait, Failure to thrive, Inability to walk, Joint s...	OMIM:617988
Lateral Meningocele Syndrome	High, narrow palate, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Cryptorchi...	ORPHA:2789
Diffuse Cutaneous Systemic Sclerosis	Gastroesophageal reflux, Xerostomia, Oliguria, Renal insufficiency, Narrow foramen obturatorium, ...	ORPHA:220393
Gm1-Gangliosidosis, Type I	Splenomegaly, Hypoplastic vertebral bodies, Short neck, Beaking of vertebral bodies, Hepatomegaly...	OMIM:230500
Abetalipoproteinemia	Osteopenia, Broad-based gait, Failure to thrive, Gait ataxia, Dysmetria, Kyphoscoliosis, Talipes ...	ORPHA:14
Atypical Rett Syndrome	Small hand, Inability to walk, Functional abnormality of the gastrointestinal tract, Gait ataxia,...	ORPHA:3095
Myhre Syndrome	Platyspondyly, Abnormal penis morphology, Precocious puberty, Bifid uvula, Abnormal epiphysis mor...	ORPHA:2588
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Short distal phalanx of finger, Finger syndactyly, Cryptorchidism, Mi...	ORPHA:1647
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Abnormal circulating interleukin concentration, Salmonella osteomyelitis, Lymphadenitis	ORPHA:319552
Systemic Lupus Erythematosus, Susceptibility To, 6	Malar rash, Abnormal renal physiology, Arthritis, Pericarditis	OMIM:609939
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Platyspondyly, Pectus carinatum, Erlenmeyer flask deformity of the femu...	OMIM:618476
Simple Cryoglobulinemia	Nephritis, Gastrointestinal hemorrhage, Monoclonal immunoglobulin M proteinemia, Paraproteinemia,...	ORPHA:91139
Genetic Transient Congenital Hypothyroidism	Macroglossia, Lethargy, Constipation, Feeding difficulties	ORPHA:226316
Sjögren-Larsson Syndrome	Inflammatory abnormality of the eye, Scoliosis, Kyphosis	ORPHA:816
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Bifid uvula, Broad distal phalanx of finger, Postaxial foot polydactyly, Intestinal malrotation, ...	ORPHA:404440
Pyknoachondrogenesis	Unossified sacrum, Short iliac bones, Micromelia, Horizontal ribs, Poorly ossified vertebrae, Sho...	ORPHA:3003
Neurofibroma	Intestinal bleeding, Peripheral schwannoma, Recurrent otitis media, Facial neoplasm, Palmar neuro...	ORPHA:252183
Metachromatic Leukodystrophy, Adult Form	Depression, Neoplasm of the gallbladder, Bowel incontinence, Abdominal distention	ORPHA:309271
Occipital Horn Syndrome	Genu valgum, High palate, Pectus carinatum, Broad clavicles, Ureteral obstruction, Limited elbow ...	OMIM:304150
Dysbetalipoproteinemia	Gout, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Acute pancreatitis, Diabetes mellitus	ORPHA:412
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Short-segment aganglionic megacolon, Ileus, White forelock, Aganglionic megacolon, White eyebrow,...	OMIM:609136
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Increased circulating IgE lev...	ORPHA:449432
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Aplasia/Hypoplasia involving the pelvis, Cryptorchidism, Missing ri...	ORPHA:3301
Farber Disease	Short toe, Failure to thrive, Short finger, Abnormal sternum morphology, Abnormality of the wrist...	ORPHA:333
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent otitis media, Slender build, Cryptorchidism, Hand muscle atrophy, Arachnodactyly, Hypos...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent otitis media, Slender build, Cryptorchidism, Hand muscle atrophy, Arachnodactyly, Hypos...	ORPHA:363958
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Septic arthritis, Recurrent pneumonia, Decreased circulating antibody level, Eczematoid dermatitis	OMIM:617780
Thyrocerebroretinal Syndrome	Nephritis	OMIM:274240
Charcot-Marie-Tooth Disease Type 4B2	Tongue atrophy, Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Tip-t...	ORPHA:99956
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Hepatic failure, Hypertrichosis, Abdominal distention, High palate	ORPHA:1655
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Vomiting, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocyto...	ORPHA:35858
Biotinidase Deficiency	Alopecia, Vomiting, Diarrhea, Lethargy, Feeding difficulties in infancy	OMIM:253260
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
Anti-Glomerular Basement Membrane Disease	Proteinuria, Hematuria, Renal insufficiency, Arthritis	ORPHA:375
Niemann-Pick Disease, Type A	Feeding difficulties in infancy, Vomiting, Protuberant abdomen, Constipation	OMIM:257200
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Broad thumb, Finger syndactyly, Supernumerary nippl...	ORPHA:373
Cholesteryl Ester Storage Disease	Hepatic failure, Diarrhea, Vomiting, Acute hepatic failure, Protuberant abdomen, Steatorrhea, Eso...	OMIM:278000
Femoral-Facial Syndrome	Toe syndactyly, Humeroradial synostosis, Cryptorchidism, Limited elbow movement, Radioulnar synos...	OMIM:134780
Argininosuccinic Aciduria	Dry hair, Vomiting, Trichorrhexis nodosa, Lethargy, Feeding difficulties in infancy, Protein avoi...	OMIM:207900
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Vomiting, Lethargy, Diarrhea	ORPHA:263455
Laryngotracheoesophageal Cleft Type 4	Abnormal form of the vertebral bodies, Abnormal rib morphology	ORPHA:93941
Cerebrocostomandibular Syndrome	Cleft soft palate, Bell-shaped thorax, Short hard palate, High palate, Ectopic kidney, Patent duc...	OMIM:117650
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Crescentic glomerulonephritis, Arthritis	OMIM:616414
Alagille Syndrome	Short distal phalanx of finger, Nephrotic syndrome, Abnormal form of the vertebral bodies, Failur...	ORPHA:52
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Lethargy, Tracheoesophageal fistula, High palate, Glossitis, Stomatitis, Feeding difficulties	OMIM:277380
Obesity And Hypopigmentation	Overgrowth, Obesity	OMIM:620195
Carnitine Palmitoyltransferase I Deficiency	Lethargy, Diarrhea, Feeding difficulties	OMIM:255120
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Abdominal distention	OMIM:618528
Congenital Enterovirus Infection	Hepatic failure, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Skin rash, Abnormal macrophage...	ORPHA:292
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Erysipelas, Polyarticular arthritis, Skin rash, Myositis, Oligoarthr...	OMIM:142680
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Hypouricemia, Nephrocalcinosis, Glycosuria, Large for gestational age, Hyperphosph...	OMIM:616026
Kbg Syndrome	Radial deviation of finger, Cervical ribs, Ulnar deviation of the 2nd finger, Clinodactyly of the...	OMIM:148050
Srd5A3-Cdg	Microcytic anemia, Decreased response to growth hormone stimulation test, Hypothyroidism, Abnorma...	ORPHA:324737
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Small scrotum, Clinodactyly, Genu valgum, Cryptorchidism, Protruding tongue, Talipes equinovarus,...	OMIM:309580
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Macroglossia, Broad distal phalanx of finger, Unilateral renal agenesis, Hydroureter, Prominent c...	OMIM:619194
Cholera	Diarrhea, Vomiting, Lethargy, Achlorhydria, Abdominal pain, Abdominal cramps	ORPHA:173
Oculocerebrorenal Syndrome Of Lowe	Periodontitis, Osteomalacia, Genu valgum, Cryptorchidism, Hematuria, Patellar dislocation, Proxim...	ORPHA:534
Fanconi-Bickel Syndrome	Hepatic failure, Abdominal distention, Hepatocellular carcinoma	ORPHA:2088
Cardiospondylocarpofacial Syndrome	Brachydactyly, Synostosis of carpal bones, Abnormal form of the vertebral bodies, Short palm	ORPHA:3238
Antisynthetase Syndrome	Joint dislocation, Xerostomia, Skin rash, Myositis, Keratoconjunctivitis sicca, Arthritis, Myocar...	ORPHA:81
Coffin-Lowry Syndrome	Highly arched eyebrow, Coarse hair, Thick eyebrow, High palate, Narrow palate, Rectal prolapse	OMIM:303600
Lateral Meningocele Syndrome	Sclerosis of skull base, Cryptorchidism, Biconcave vertebral bodies, Joint hypermobility, Wormian...	OMIM:130720
Shwachman-Diamond Syndrome 1	Narrow chest, Proximal femoral epiphysiolysis, Metaphyseal sclerosis, Proximal femoral metaphysea...	OMIM:260400
Osteogenesis Imperfecta, Type Vii	Delayed cranial suture closure, Multiple prenatal fractures, Protrusio acetabuli, Osteopenia, Ver...	OMIM:610682
Alternating Hemiplegia Of Childhood	Diarrhea, Abdominal distention, Vomiting, Oral-pharyngeal dysphagia, Thin eyebrow, Gastrointestin...	ORPHA:2131
Methylmalonic Acidemia With Homocystinuria Type Cblf	Lethargy, Cleft palate, Glossitis, Stomatitis, Feeding difficulties	ORPHA:79284
Restrictive Dermopathy 1	Rocker bottom foot, Overtubulated long bones, Increased anterioposterior diameter of thorax, Subm...	OMIM:275210
Donohue Syndrome	Hypertrichosis, Abdominal distention	OMIM:246200
Malt Lymphoma	Posterior uveitis, Abnormality of the thyroid gland, Nausea and vomiting, B-cell lymphoma, Consti...	ORPHA:52417
Reynolds Syndrome	Gastroesophageal reflux, Xerostomia, Skin rash, Abnormal gastric mucosa morphology, Infectious en...	ORPHA:779
Down Syndrome	Atlantoaxial dislocation, Type II diabetes mellitus, Protruding tongue, Acute megakaryocytic leuk...	ORPHA:870
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Decreased circulating IgG level, Proximal tubulopathy, Failure to thrive, Decreased c...	OMIM:212065
Vater/Vacterl Association	Abnormal vertebral morphology, Radioulnar synostosis, Absent radius, Anal atresia, Ectopic kidney...	OMIM:192350
Lysosomal Acid Lipase Deficiency	Hepatic failure, Diarrhea, Vomiting, Decreased liver function, Malnutrition, Feeding difficulties...	ORPHA:275761
Alg1-Cdg	Protein-losing enteropathy, Limitation of joint mobility, Renal insufficiency, Abnormality of the...	ORPHA:79327
Scedosporiosis	Pneumonia, Abnormal jejunum morphology, Unusual skin infection, Osteomyelitis, Arthralgia/arthrit...	ORPHA:449280
Hurler Syndrome	Abnormal vertebral morphology, Abnormal epiphysis morphology, Limitation of joint mobility, Abnor...	ORPHA:93473
Poliomyelitis	Vomiting, Paralytic ileus, Anorexia, Nausea, Dysphagia	ORPHA:2912
Eosinophilic Fasciitis	Myositis, Weight loss, Arthritis, Fasciitis	ORPHA:3165
Combined Oxidative Phosphorylation Deficiency 11	Lethargy, Feeding difficulties, Decreased liver function	OMIM:614922
Pallister-Killian Syndrome	Small scrotum, Small hand, Postaxial foot polydactyly, Delayed cranial suture closure, Supernumer...	OMIM:601803
Premature Aging Syndrome, Penttinen Type	Thin ribs, Short distal phalanx of finger, Slender long bone, Failure to thrive, Delayed cranial ...	OMIM:601812
Multiple Mitochondrial Dysfunctions Syndrome 1	Lethargy, Feeding difficulties	OMIM:605711
Bardet-Biedl Syndrome 1	Postaxial foot polydactyly, Ataxia, Foot polydactyly, High palate, Short foot, Syndactyly, High, ...	OMIM:209900
Microphthalmia, Syndromic 1	Joint contracture of the hand, Clinodactyly, Recurrent otitis media, Cryptorchidism, Anal atresia...	OMIM:309800
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Thin ribs, Contracture of the distal interphalangeal joint of the fingers, Overlapping toe, Crypt...	ORPHA:83617
Mgat2-Cdg	Osteopenia, Decreased lymphocyte proliferation in response to mitogen, Gastroesophageal reflux, D...	ORPHA:79329
Hallermann-Streiff Syndrome	High, narrow palate, Narrow palate, Recurrent pneumonia, Decreased number of sternal ossification...	OMIM:234100
Pmm2-Cdg	Platyspondyly, Hepatic fibrosis, Vomiting, Elevated circulating thyroid-stimulating hormone conce...	ORPHA:79318
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Postaxial polysyndactyly of foot, Polycystic kidney dysplasia, Polysyndactyly of hallux, Pectus c...	OMIM:263520
Neuroblastoma	Neoplasm of the nervous system, Chronic diarrhea, Abdominal distention, Neuroblastoma	ORPHA:635
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Lethargy, Vomiting, Feeding difficulties	OMIM:210210
Congenital Myopathy 13	Cryptorchidism, Kyphoscoliosis, High palate, Bilateral talipes equinovarus, Flexion contracture, ...	OMIM:255995
Hand-Foot-Genital Syndrome	Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Short 1st meta...	ORPHA:2438
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Anorexia, Orchitis, Incr...	ORPHA:48435
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Short neck, Short palm, Short foot, Patent ductus arteriosus, Short toe, Ha...	OMIM:269860
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Unilateral renal agenesis, Abnormal form of the vertebral bodies, Horseshoe kidney...	ORPHA:3109
Familial Visceral Myopathy	Aganglionic megacolon, Cleft palate, Abdominal distention	ORPHA:2604
Williams-Beuren Syndrome	Recurrent otitis media, Radioulnar synostosis, Celiac disease, Rectal prolapse, Osteopenia, Gastr...	OMIM:194050
Polyposis of gastric fundus without polyposis coli	Multiple gastric polyps, Abnormal gastric mucosa morphology	OMIM:175505
1P36 Deletion Syndrome	Delayed cranial suture closure, Abnormal female external genitalia morphology, Cryptorchidism, Ab...	ORPHA:1606
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Gait ataxia, Gastrointestinal dysmotility, Flexion contracture of finger, Gait dis...	ORPHA:88628
Fanconi Anemia, Complementation Group O	Anal atresia, Rectal atresia	OMIM:613390
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Failure to thrive, Hydroxyprolinuria, Increased bone mineral density, Recurrent fract...	OMIM:239000
Trisomy 9P	Bilateral single transverse palmar creases, Short neck, Brachydactyly, Clinodactyly of the 5th fi...	ORPHA:236
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, ...	ORPHA:457077
Spinal Arteriovenous Metameric Syndrome	Urinary bladder sphincter dysfunction, Abnormality of the vertebral column, Kyphoscoliosis	ORPHA:53721
Cockayne Syndrome Type 2	Male hypogonadism, Difficulty walking, Cryptorchidism, Gait disturbance, Ataxia, Conjunctivitis, ...	ORPHA:90322
Arthrogryposis And Ectodermal Dysplasia	Joint contracture of the hand, Kyphoscoliosis, Camptodactyly, Arthrogryposis multiplex congenita,...	OMIM:601701
Coffin-Lowry Syndrome	Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Narrow palate, Craniofacial h...	ORPHA:192
Congenital Myopathy 22B, Severe Fetal	Thin ribs, Tapered toe, Shoulder flexion contracture, Slender long bone, Thoracic hypoplasia, Elb...	OMIM:620369
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the urethra, Urinary retention, Abnormality of the ovary, Dysuria, Polycystic ovar...	ORPHA:2795
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	OMIM:218030
Systemic-Onset Juvenile Idiopathic Arthritis	Skin rash, Joint swelling, Arthritis, Juvenile rheumatoid arthritis, Pericarditis, Anterior uveitis	ORPHA:85414
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Decreased response to growth hormone...	OMIM:307200
Mosaic Trisomy 20	Narrow chest, Clinodactyly, Spinal canal stenosis, Horseshoe kidney, Cryptorchidism, Vertebral se...	ORPHA:1724
Smith-Lemli-Opitz Syndrome	Clitoral hypertrophy, Postaxial foot polydactyly, Multicystic kidney dysplasia, Finger syndactyly...	ORPHA:818
Evans Syndrome	Lethargy	ORPHA:1959
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Atlantoaxial instability, Large joint hypermobilty, Cleft soft palate, Kyphoscoliosis...	OMIM:614557
Marden-Walker Syndrome	Multicystic kidney dysplasia, Arachnodactyly, Radioulnar synostosis, Hypospadias, Epispadias, Abn...	ORPHA:2461
Multiple Endocrine Neoplasia, Type I	Thyroid adenoma, Peptic ulcer, Pituitary adenoma, Adrenocortical adenoma, Pituitary prolactin cel...	OMIM:131100
Hurler Syndrome	Hypoplasia of the odontoid process, Cranial hyperostosis, Recurrent otitis media, Calvarial hyper...	OMIM:607014
Cornelia De Lange Syndrome 1	Cryptorchidism, Short neck, Hypoplastic labia majora, Dislocated radial head, High palate, Hyposp...	OMIM:122470
Multiple Endocrine Neoplasia, Type Iib	High, narrow palate, Colonic diverticula, Proximal femoral epiphysiolysis, Failure to thrive in i...	OMIM:162300
Flynn-Aird Syndrome	Joint stiffness, Bone cyst, Cachexia, Ataxia, Scoliosis, Kyphosis	ORPHA:2047
Polymyositis	Gastrointestinal hemorrhage, Chondrocalcinosis, Gastroesophageal reflux, Weight loss, Gait distur...	ORPHA:732
Familial Hypoaldosteronism	Lethargy, Diarrhea, Nausea and vomiting, Feeding difficulties	ORPHA:427
Sialidosis Type 1	Abnormal form of the vertebral bodies, Scoliosis, Splenomegaly, Kyphosis	ORPHA:812
Myhre Syndrome	Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Enlarged vertebral pedicles, ...	OMIM:139210
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Vexas Syndrome	Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Nasal cho...	OMIM:301054
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Lethargy, Vomiting, Anteriorly placed anus, Feeding difficulties	ORPHA:26793
Pancreatoblastoma	Abdominal pain, Vomiting, Diarrhea, Abdominal distention	ORPHA:677
Basel-Vanagaite-Smirin-Yosef Syndrome	Pectus carinatum, Clitoral hypertrophy, Recurrent pneumonia, Gastroesophageal reflux, Furrowed to...	OMIM:616449
Gist-Plus Syndrome	Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception	OMIM:175510
Sclerosteosis 1	Broad clavicles, Abnormal pelvic girdle bone morphology, Deviation of finger, Broad ribs, Sclerot...	OMIM:269500
Psoriasis 1, Susceptibility To	Psoriasiform dermatitis, Arthritis	OMIM:177900
Lacrimoauriculodentodigital Syndrome	Toe syndactyly, Xerostomia, Finger syndactyly, Clinodactyly, Cryptorchidism, Keratoconjunctivitis...	ORPHA:2363
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Spinal rigidity, Diarrhea, Neuropathic spinal arthropathy, Nausea, Dysphagia, Kyphosis, Hypergona...	ORPHA:352447
Staphylococcal Necrotizing Pneumonia	Pneumonia, Leukopenia, Leukocytosis, Increased circulating procalcitonin concentration, Acute inf...	ORPHA:36238
Trisomy 18	Narrow palate, Deviation of finger, Abnormal rib morphology, Abnormal morphology of female intern...	ORPHA:3380
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Sandal gap, Single transverse palmar crease, 2-3 toe syndactyly, Brachydactyly, Scapular winging,...	OMIM:617061
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Crypto...	ORPHA:93322
Microphthalmia With Limb Anomalies	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot pol...	ORPHA:1106
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Metatarsus valgus, Joint hypermobility, Genu varum, Ataxia, High palate, Scoliosis, K...	ORPHA:2479
Hypothyroidism Due To Tsh Receptor Mutations	Macroglossia, Lethargy, Feeding difficulties in infancy, Constipation	ORPHA:90673
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Lumbar hemivertebrae, Osteopenia, Thin metatarsal cortices, Small hypothenar eminence, Thin metac...	ORPHA:2463
Epidermolysis Bullosa Simplex With Pyloric Atresia	Vomiting, Congenital pyloric atresia, Nail dystrophy, Scarring alopecia of scalp, Abdominal diste...	ORPHA:158684
Gastroesophageal Reflux	Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm	OMIM:109350
Overlap Myositis	Proximal muscle weakness in upper limbs, Rheumatoid arthritis, Finger swelling, Difficulty walkin...	ORPHA:206572
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Male hypogonadism, Cryptorchidism, Joint contracture, Osteoporosis, Scoliosis, Kyphosis	OMIM:615381
Spinocerebellar Ataxia, Autosomal Recessive 8	Limb ataxia, Gait ataxia, Dysmetria, Scoliosis, Kyphosis	OMIM:610743
Isolated Anencephaly	Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes	ORPHA:563609
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Lethargy	OMIM:615838
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Cryptorchidism, Joint hypermobility, Hypogonadotropic hypogonad...	OMIM:619718
Whipple Disease	Gastrointestinal hemorrhage, Infectious encephalitis, Myositis, Cachexia, Arthritis, Ataxia, Myoc...	ORPHA:3452
Muenke Syndrome	Coronal craniosynostosis, Cone-shaped epiphysis, Carpal synostosis, Tarsal synostosis, Short foot...	ORPHA:53271
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Vomiting, Diarrhea, Acute hepatic failure, Lethargy, Feeding difficulties in infancy	ORPHA:71212
Tetrasomy 9P	Hypoplastic scapulae, Small hand, Absent gallbladder, Cryptorchidism, Bilateral single transverse...	ORPHA:3310
Shashi-Pena Syndrome	Unilateral renal agenesis, Kyphosis, Cervical C2/C3 vertebral fusion, Deep palmar crease, Patent ...	OMIM:617190
Vascular Ehlers-Danlos Syndrome	High, narrow palate, Congenital hip dislocation, Joint dislocation, Uterine rupture, Periodontiti...	ORPHA:286
Parkinson-Dementia Syndrome	Kyphoscoliosis	OMIM:260540
Pearson Marrow-Pancreas Syndrome	Hepatic failure, Vomiting, Exocrine pancreatic insufficiency, Villous atrophy, Malabsorption, Let...	OMIM:557000
Congenital Disorder Of Glycosylation, Type Ig	Lethargy, Feeding difficulties, Poor suck	OMIM:607143
Distal 16P11.2 Microdeletion Syndrome	Chronic kidney disease, Obesity, Vesicoureteral reflux, Hyperuricemia, Proteinuria	ORPHA:261222
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Cervical lymphadenopathy, Anorexia, Leukopenia, Malar rash, Enlar...	ORPHA:50918
Polycythemia Vera	Early satiety, Gastrointestinal hemorrhage, Acute leukemia, Polycythemia, Leukocytosis, Splenomeg...	ORPHA:729
Kleefstra Syndrome 2	Scoliosis, Kyphosis	OMIM:617768
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Kyphoscoliosis	OMIM:618339
Mucopolysaccharidosis Type 2	Hip osteoarthritis, Limitation of joint mobility, Contractures of the large joints, Flexion contr...	ORPHA:580
Codas Syndrome	Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Genu valgum, Sh...	OMIM:600373
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Thoracic hypoplasia, Overlapping toe, Single transverse palmar crease, Long toe, Flexion contract...	ORPHA:254528
Severe Hemophilia A	Gastrointestinal hemorrhage, Limitation of joint mobility, Progressive joint destruction, Joint s...	ORPHA:169802
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Vomiting, Lethargy, Diarrhea, Episodic vomiting	OMIM:618321
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Cryptorchidism, Arachnodactyly, Talipes equinovarus, Short hallux,...	ORPHA:280
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Broad-based gait, Short 5th toe, Cleft soft palate, Cryptorchidism, Chordee, Osteochondrosis, Ata...	ORPHA:268261
Wolf-Hirschhorn Syndrome	Cryptorchidism, Radioulnar synostosis, Talipes equinovarus, Short hallux, Hypospadias, Hip disloc...	OMIM:194190
Atypical Progressive Supranuclear Palsy Syndrome	Unsteady gait, Falls, Freezing of gait, Kyphoscoliosis	ORPHA:99750
Diarrhea 1, Secretory Chloride, Congenital	Abdominal distention, Secretory diarrhea, Elevated stool chloride content	OMIM:214700
Sweeney-Cox Syndrome	Gastroesophageal reflux, Velopharyngeal insufficiency, Bilateral cryptorchidism, Median cleft pal...	OMIM:617746
Autosomal Dominant Progressive External Ophthalmoplegia	Depression, Gastroesophageal reflux, Gastroparesis, Bipolar affective disorder, Lethargy, Constip...	ORPHA:254892
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po...	OMIM:258900
Incontinentia Pigmenti	Keratitis, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Kyphoscoliosis, Supernumerary...	OMIM:308300
Combined Oxidative Phosphorylation Deficiency 53	Abdominal distention	OMIM:619423
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg...	OMIM:615415
Glutaric Acidemia Type 3	Lethargy	ORPHA:35706
Paternal Uniparental Disomy Of Chromosome 1	Obesity, Proteinuria, Increased blood urea nitrogen, Macroscopic hematuria, Membranoproliferative...	ORPHA:251004
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Cholestasis, Hepatosplenomegaly, Esophagitis, Hepatic steatosi...	ORPHA:541423
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Diarrhea, Hepatocellular necrosis, Hepatosplenomegaly, Elliptocy...	OMIM:618278
Severe Congenital Nemaline Myopathy	Thin ribs, Arthrogryposis multiplex congenita, Abnormal thorax morphology, Adducted thumb, Dyspha...	ORPHA:171430
Rheumatoid Arthritis	Rheumatoid arthritis, Polyarticular arthritis, Joint stiffness, Interphalangeal joint erosions, J...	OMIM:180300
Spinal Cord Injury	Paralytic ileus	ORPHA:90058
Tukel Syndrome	Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly	OMIM:609428
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell...	OMIM:300835
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Recurrent pneumonia, Elbow flexion contracture, Inability to walk, Obesity, Genu valgum, Hip cont...	OMIM:618493
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short distal phalanx of finger, Epiphyseal stippling, Talipes equinovarus, Abnormal cartilage mat...	ORPHA:86822
Cerebrofaciothoracic Dysplasia	Narrow chest, Vertebral segmentation defect, Rib fusion, Short neck, Sprengel anomaly, Hemiverteb...	ORPHA:1394
Heterotaxy, Visceral, 2, Autosomal	Intestinal malrotation, Asplenia, Abdominal situs inversus, Polysplenia	OMIM:605376
Robinow Syndrome, Autosomal Dominant 3	Mesomelia, Broad thumb, Clinodactyly, Anteriorly placed anus, Vesicoureteral reflux, Cryptorchidi...	OMIM:616894
Genitopalatocardiac Syndrome	Hypospadias, Multicystic kidney dysplasia, Cryptorchidism, Male pseudohermaphroditism, Gonadal dy...	ORPHA:2075
Intellectual Developmental Disorder, X-Linked, Syndromic 33	High, narrow palate, Osteopenia, Ataxia, Gastroesophageal reflux, Eczematoid dermatitis, Oral-pha...	OMIM:300966
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:79126
Bardet-Biedl Syndrome 20	Male hypogonadism, Pancreatitis, Bilateral cryptorchidism	OMIM:619471
Nestor-Guillermo Progeria Syndrome	Thin ribs, Failure to thrive, Pathologic fracture, Joint stiffness, Mandibular osteolysis, Limite...	OMIM:614008
Cowden Syndrome	Abnormal penis morphology, Ataxia, Palmoplantar keratoderma, Failure to thrive, Abnormality of th...	ORPHA:201
Myotubular Myopathy With Abnormal Genital Development	Thin ribs, Bifid scrotum, Bilateral cryptorchidism, Glandular hypospadias, Penile hypospadias, Jo...	OMIM:300219
Generalized Pustular Psoriasis	Obesity, Renal insufficiency, Palmoplantar pustulosis, Pustule, Erythroderma, Arthritis, Geograph...	ORPHA:247353
Hereditary Acrokeratotic Poikiloderma	Xerostomia, Finger syndactyly, Eczematoid dermatitis, Camptodactyly of finger, Oral leukoplakia, ...	ORPHA:2907
Ulbright-Hodes Syndrome	Thin ribs, Clitoral hypertrophy, Fibular aplasia, Enlarged labia minora, Humeroradial synostosis,...	ORPHA:3404
Lymphatic Filariasis	Urethral obstruction, Ankle swelling, Lymphadenitis, Abnormal scrotum morphology, Orchitis, Knee ...	ORPHA:2035
Intellectual Developmental Disorder, Autosomal Dominant 73	Recurrent otitis media, Ankyloglossia, Cleft soft palate, Cryptorchidism, Bilateral single transv...	OMIM:620450
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Kyphosis, Unilateral radial aplasia, Failure to thrive, Partial absence of thumb, Gait ataxia, 2-...	ORPHA:476126
Mitochondrial Trifunctional Protein Deficiency 1	Lethargy, Feeding difficulties	OMIM:609015
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Narrow chest, Cone-shaped epiphysis, Hydrometrocolpos, Horseshoe kidney, Horizontal ribs, Aplasia...	OMIM:617088
Hemifacial Atrophy, Progressive	Tongue atrophy, Kyphosis, Ataxia	OMIM:141300
Hypothyroidism, Congenital, Nongoitrous, 2	Lethargy, Constipation, Feeding difficulties in infancy, Abdominal distention, Macroglossia	OMIM:218700
Riddle Syndrome	Pneumonia, Enuresis nocturna, Recurrent pneumonia, Decreased circulating IgG level, Decreased cir...	ORPHA:420741
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatic failure, Diarrhea, Vomiting, Acute hepatic failure, Reye syndrome-like episodes, Abdomina...	OMIM:256810
Adiposis Dolorosa	Obesity, Recurrent skin infections, Xerostomia, Arthritis	ORPHA:36397
Absent Radius-Anogenital Anomalies Syndrome	Anal atresia, Rectal atresia, Rectovaginal fistula, Perineal fistula	ORPHA:3016
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Protuberant abdomen	OMIM:617102
Mitochondrial Trifunctional Protein Deficiency	Chronic hepatic failure, Lethargy, Feeding difficulties in infancy, Poor suck	ORPHA:746
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Nausea, Chronic diarrhea, Kyphosis, Hypergonadotropic hypogonadis...	OMIM:615084
Localized Scleroderma	Gastroesophageal reflux, Fasciitis, Sclerosis of finger phalanx, Esophagitis, Abnormal bone struc...	ORPHA:90289
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Pectus carinatum, Inability to walk, Gait ataxia, Dysphagia, Kyphosis	ORPHA:500180
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Ankle clonus, Flexion contracture, Scoliosis, Kyphosis	OMIM:609541
X-Linked Charcot-Marie-Tooth Disease Type 5	Gait disturbance, Scoliosis, Kyphosis, Ataxia	ORPHA:99014
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Joint stiffness, Cachexia, Gait disturbance, Ataxia, Scoliosis, Kyp...	ORPHA:702
Proteus-Like Syndrome	Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, Splenomegaly, Poly...	ORPHA:2969
Rheumatic Fever	Gait disturbance, Arthritis, Sinusitis, Myocarditis, Nephrotic syndrome, Endocarditis, Pericarditis	ORPHA:3099
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Gastrointestinal infarctions, Renal insufficiency, Hematuria, Protei...	ORPHA:91138
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal tibia morphology, Lower limb dysmetria, Genu valgum, Bone cyst, Kyphoscoliosis, Joint hy...	ORPHA:363700
Hereditary Xanthinuria	Decreased urinary urate, Rheumatoid arthritis, Acute kidney injury, Increased urinary hypoxanthin...	ORPHA:3467
Aicardi Syndrome	Precocious puberty, Block vertebrae, Small hand, Gastroesophageal reflux, Butterfly vertebrae, In...	ORPHA:50
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Multicystic kidney dysplasia, Acute kidney injury, Absent vas deferens, Horseshoe kidney, Renal i...	ORPHA:93111
Autosomal Dominant Centronuclear Myopathy	Thin ribs, Proximal muscle weakness in upper limbs, Difficulty walking, Large for gestational age...	ORPHA:169189
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Kyphosis, Periventricular heterotopia, Cryptorchidism, Thrombo...	ORPHA:261250
Leukocyte Adhesion Deficiency Type Ii	Recurrent pneumonia, Keratitis, Recurrent otitis media, Microcytic anemia, Leukocytosis, Protrudi...	ORPHA:99843
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Peritonitis, Microcolon, Ileal atresia, Abdominal distention	OMIM:619351
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatic failure, Acute hepatic failure, Paralytic ileus, Episodic vo...	OMIM:276700
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Spinal canal stenosis, Broad ribs, Lumbar hyperlordosis, Brachydacty...	OMIM:277600
Methylmalonic Aciduria, Cblb Type	Vomiting, Lethargy, Feeding difficulties in infancy	OMIM:251110
Microphthalmia, Syndromic 3	Butterfly vertebrae, Cryptorchidism, Missing ribs, Hypogonadotropic hypogonadism, Supernumerary r...	OMIM:206900
Microgastria-Limb Reduction Defect Syndrome	Microgastria, Gastroesophageal reflux, Abnormal cortical gyration, Intestinal malrotation, Abnorm...	ORPHA:2538
Isolated Thyroid-Stimulating Hormone Deficiency	Depression, Lethargy, Constipation, Feeding difficulties in infancy, Macroglossia	ORPHA:90674
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Precocious puberty, Cholelithiasis, Recurrent otitis media, Broad ribs, Obesity, Genu valgum, Lim...	OMIM:301066
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Prominent fingertip pads, Overlapping toe, Bilateral camptodactyly, Short fourth metatarsal, Hip ...	OMIM:619557
Pallister-Hall Syndrome	Small scrotum, Toe syndactyly, Broad thumb, Radial bowing, Hydrometrocolpos, Hypopituitarism, Pol...	ORPHA:672
Aspartylglucosaminuria	Abnormal vertebral morphology, Pectus carinatum, Joint stiffness, Aspartylglucosaminuria, Abnorma...	ORPHA:93
Body Mass Index Quantitative Trait Locus 19	Obesity, Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Lesch-Nyhan Syndrome	Hematuria, Gout, Renal insufficiency	ORPHA:510
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Aspiration pneumonia, Genu valgum, Urinary glycosaminoglycan excretion...	ORPHA:581
Structural Heart Defects And Renal Anomalies Syndrome	Renal cyst, Elevated circulating creatinine concentration, Renal insufficiency	OMIM:617478
Mucopolysaccharidosis, Type Iiia	Ovoid thoracolumbar vertebrae, Scoliosis, Thickened ribs	OMIM:252900
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatos...	OMIM:151660
Intellectual Developmental Disorder, Autosomal Dominant 57	Failure to thrive, Tip-toe gait, Otitis media, Joint hypermobility, Brachydactyly, Absent fourth ...	OMIM:618050
Bardet-Biedl Syndrome 6	Renal cyst, Obesity, Hypospadias	OMIM:605231
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Asymmetry of the thorax, Finger syndactyly, Genu varum, Pectus excavatum, Scoliosis, Kyphosis	ORPHA:1969
Semilobar Holoprosencephaly	Bifid uvula, Gastroesophageal reflux, Depression, Vomiting, Feeding difficulties, Abnormal gastro...	ORPHA:220386
Alobar Holoprosencephaly	Bifid uvula, Gastroesophageal reflux, Depression, Vomiting, Feeding difficulties, Abnormal gastro...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Bifid uvula, Gastroesophageal reflux, Depression, Vomiting, Feeding difficulties, Abnormal gastro...	ORPHA:93926
Lobar Holoprosencephaly	Bifid uvula, Gastroesophageal reflux, Depression, Vomiting, Feeding difficulties, Abnormal gastro...	ORPHA:93924
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body weight, Increased body mass index	OMIM:614450
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Chemodectoma, Elevated urinary catecholamine level, Gastrointesti...	OMIM:115310
Familial Hypocalciuric Hypercalcemia	Peptic ulcer, Nausea and vomiting, Episodic abdominal pain, Pancreatitis, Lipoma	ORPHA:405
Phosphoribosylpyrophosphate Synthetase Superactivity	Urolithiasis, Gout, Cryptorchidism, Renal insufficiency, Hyperuricosuria, Ataxia, Uric acid nephr...	OMIM:300661
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Ataxia, Uric acid nep...	ORPHA:411543
Camptodactyly Syndrome, Guadalajara Type 3	Small hand, Broad femoral neck, Distal shortening of limbs, Thickened cortex of long bones, Short...	ORPHA:488434
Dextrocardia	Congenital hip dislocation, Meckel diverticulum, Pancreatic hypoplasia, Intestinal malrotation, A...	ORPHA:1666
Townes-Brocks Syndrome	Abnormal vertebral morphology, Toe syndactyly, Broad thumb, Abnormal vagina morphology, Cryptorch...	ORPHA:857
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Foot acroosteolysis, Gastric hypertrophy, Metacarpal periosteal thickening, Periosteal thickening...	OMIM:161700
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Decreased circulating IgA level, Multiple rib fractures, Femur f...	OMIM:612301
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol concentration, Hypert...	OMIM:618620
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Postaxial polydactyly, Kyphosis, Knee flexion contracture, Thoracic scoliosis	OMIM:603387
Alpha-Mannosidosis, Infantile Form	Genu valgum, Short neck, Bilateral coxa valga, Bilateral talipes equinovarus, Ataxia, Hypoplastic...	ORPHA:309282
Methylmalonic Aciduria, Cbla Type	Vomiting, Lethargy, Feeding difficulties in infancy	OMIM:251100
Osteogenesis Imperfecta, Type Iv	Femoral bowing present at birth, straightening with time, Recurrent fractures, Reduced bone miner...	OMIM:166220
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Decreased circulating renin level	OMIM:613677
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Elbow flexion contracture, Recurrent otitis media, Joint stiffness, Heparan...	OMIM:252940
Pontine Tegmental Cap Dysplasia	Failure to thrive, Dysmetria, Ankle clonus, Rib fusion, Dysphagia, Hemivertebrae, Ataxia, Scoliosis	OMIM:614688
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Cryptorchidism, Aplasia/Hypoplasia of the patella, Dislocated radial head, ...	OMIM:135900
Cat Eye Syndrome	Anal stenosis, Meckel diverticulum, Volvulus, Intestinal malrotation, Rectal fistula, Rectal atre...	OMIM:115470
Baller-Gerold Syndrome	Abnormal vertebral morphology, Lambdoidal craniosynostosis, Carpal synostosis, Patellar aplasia, ...	OMIM:218600
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Platyspondyly, Short femoral neck, Flared metaphysis, Irregular epiphyses, Small epiphyses, Carpa...	OMIM:610442
Immunoglobulin A Vasculitis	Gastrointestinal hemorrhage, Gastrointestinal infarctions, Episcleritis, Skin rash, Renal insuffi...	ORPHA:761
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Abnormal joint morphology, Lumbar scoliosis, Short neck, Metaphyseal dysplasia, Genu varum, Irreg...	ORPHA:99646
Fetal Akinesia Deformation Sequence 1	High, narrow palate, Thin ribs, Congenital contracture, Slender long bone, Thoracic hypoplasia, C...	OMIM:208150
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Abdominal pain, Lethargy, Vomiting, Protein avoidance	OMIM:311250
Lowe Oculocerebrorenal Syndrome	Joint contracture of the hand, Finger swelling, Osteomalacia, Genu valgum, Cryptorchidism, Proxim...	OMIM:309000
Feingold Syndrome 1	Accessory spleen, Annular pancreas, Polysplenia, Jejunal atresia, Tracheoesophageal fistula, Esop...	OMIM:164280
Diaphanospondylodysostosis	Protuberant abdomen, Cleft palate, Nephroblastomatosis	OMIM:608022
Lyme Disease	Infectious encephalitis, Joint swelling, Arthritis, Uveitis	ORPHA:91546
Giant Cell Arteritis	Gastrointestinal infarctions, Joint stiffness, Renal insufficiency, Hematuria, Weight loss, Arthr...	ORPHA:397
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormality of the vertebral column, Hemivertebrae, Large hands,...	ORPHA:2062
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Lethargy, Feeding difficulties	OMIM:201470
X-Linked Acrogigantism	Hypogonadism, Pituitary adenoma, Abdominal distention	ORPHA:300373
Dubin-Johnson Syndrome	Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tract abnormality, Abdomina...	ORPHA:234
Relapsing Polychondritis	Uveitis, Limitation of joint mobility, Hepatitis, Conjunctivitis, Keratitis, Anteriorly placed an...	ORPHA:728
Mesomelia-Synostoses Syndrome	Abnormal vertebral morphology, Metacarpal synostosis, Tarsometatarsal synostosis, Mesomelia, Micr...	OMIM:600383
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Increased body weight	ORPHA:589905
Hurler-Scheie Syndrome	Hepatomegaly, Scoliosis, Splenomegaly, Kyphosis	OMIM:607015
Renal Hypoplasia, Bilateral	Lethargy, Feeding difficulties	ORPHA:97362
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Gastroesophageal reflux, Cutaneous melanoma, Anal fissure, Ankyloglossia, Malnutrition, Squamous ...	ORPHA:79408
Spastic Paraplegia 84, Autosomal Recessive	Crohn's disease	OMIM:619621
Frontometaphyseal Dysplasia 2	Bifid uvula, Gastroesophageal reflux, Cryptorchidism, Feeding difficulties in infancy, Delayed pu...	OMIM:617137
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Gastroesophageal reflux, Lumbar hyperlordosis, Equinus calcaneus, Joint hypermobility, 2-3 toe sy...	ORPHA:522077
Weill-Marchesani Syndrome 2	Narrow palate, Broad phalanges of the hand, Spinal canal stenosis, Elbow flexion contracture, Sho...	OMIM:608328
Mucolipidosis Type Ii	Narrow chest, Kyphosis, Limitation of joint mobility, Limited wrist movement, Decreased movement ...	ORPHA:576
Trichinellosis	Nausea, Lethargy, Apathy, Dysphagia	ORPHA:863
Marfanoid-Progeroid-Lipodystrophy Syndrome	High, narrow palate, Narrow chest, Arachnodactyly, Keratoconjunctivitis sicca, Long fingers, Scap...	OMIM:616914
Citrullinemia, Classic	Lethargy, Vomiting, Protein avoidance	OMIM:215700
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Lethargy, Hepatic failure, Abdominal distention	OMIM:617156
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Talipes equinovarus, Kyphosis	OMIM:151800
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Pectus carinatum, Gastrointestinal hemorrhage, Kyphosis, Joint stiffness, Genu valgum, Arachnodac...	ORPHA:394
Micro Syndrome	Joint stiffness, Hypoplastic labia minora, Cryptorchidism, Hydronephrosis, High palate, Hypoplasi...	ORPHA:2510
Metachromatic Leukodystrophy, Late Infantile Form	Feeding difficulties in infancy, Abdominal distention	ORPHA:309256
Glycogen Storage Disease Vii	Hematuria, Cholelithiasis, Gout, Exercise-induced myoglobinuria	OMIM:232800
Mody	Nephropathy, Glycosuria, Obesity, Abnormal circulating C-peptide concentration, Large for gestati...	ORPHA:552
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Broad-based gait, Recurrent otitis media, Genu valgum, Cryptorchidi...	ORPHA:2152
Pseudo-Torch Syndrome 2	Lethargy	OMIM:617397
Zttk Syndrome	Bifid uvula, Small hand, Unilateral renal agenesis, Failure to thrive, Cervical ribs, Horseshoe k...	OMIM:617140
Cryptogenic Organizing Pneumonia	Anorexia, Leukocytosis, Neutrophilia	ORPHA:1302
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Increased body weight, Micropenis, Horseshoe kidney	OMIM:300860
Cystic Fibrosis, Modifier Of, 1	Meconium ileus	OMIM:603855
Cardiospondylocarpofacial Syndrome	Cone-shaped epiphysis, Gastroesophageal reflux, Failure to thrive, Carpal synostosis, Fusion of m...	OMIM:157800
Wrinkly Skin Syndrome	Congenital hip dislocation, Osteopenia, Slender long bone, Failure to thrive, Delayed cranial sut...	OMIM:278250
Carnitine-Acylcarnitine Translocase Deficiency	Lethargy, Hepatic failure	ORPHA:159
Anal Fistula	Anoperineal fistula, Leukocytosis	ORPHA:228113
Leukocyte Adhesion Deficiency, Type I	Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Leukocytosis, Rectal abscess, Ch...	OMIM:116920
3Q27.3 Microdeletion Syndrome	Arachnodactyly, Kyphoscoliosis	ORPHA:397695
Acute Transverse Myelitis	Priapism, Gastroparesis, Paralytic ileus, Constipation, Abnormal libido	ORPHA:139417
Intrahepatic Cholestasis Of Pregnancy	Abnormal circulating interleukin concentration, Hyperbilirubinemia, Cholecystitis, Increased seru...	ORPHA:69665
Rett Syndrome	Gastroesophageal reflux, Gait ataxia, Cachexia, Gait apraxia, Truncal ataxia, Short foot, Scolios...	OMIM:312750
Nephronophthisis-Like Nephropathy 1	Pancreatic cysts, Chronic pancreatitis	OMIM:613159
Peroxisome Biogenesis Disorder 5A (Zellweger)	Lethargy, Feeding difficulties in infancy, Hypoplastic nipples, High palate, Cleft palate, Poor suck	OMIM:614866
Idiopathic Juvenile Osteoporosis	Kyphosis, Gait disturbance, Osteoporosis, Vertebral compression fracture, Recurrent fractures	ORPHA:85193
Behcet Syndrome	Genital ulcers, Iridocyclitis, Erythema nodosum, Arthritis, Decreased level of D-mannose in urine...	OMIM:109650
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Broad-based gait, Recurrent otitis media, Long hallux, Genu valgum,...	ORPHA:261537
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Obesity, Biconcave vertebral bodies, Nephrolithiasis, Oligomenorrhea, Abdomina...	OMIM:219090
Encephalitis Lethargica	Lethargy, Bowel incontinence	ORPHA:83600
Autosomal Recessive Spastic Paraplegia Type 9B	Tip-toe gait, Urinary retention, Kyphoscoliosis, Spastic gait, Pollakisuria	ORPHA:447760
Herpes Simplex Virus Encephalitis	Nausea and vomiting, Leukocytosis, Neutrophilia	ORPHA:1930
Meckel Syndrome 14	Protuberant abdomen, Abdominal distention	OMIM:619879
Brown-Vialetto-Van Laere Syndrome 1	Tongue atrophy, Gait imbalance, Hand muscle atrophy, Ankle clonus, Ataxia, Truncal ataxia, Scolio...	OMIM:211530
Vitamin D-Dependent Rickets, Type 2A	Alopecia universalis, Protuberant abdomen	OMIM:277440
Monosomy 9P	Limitation of joint mobility, Abnormality of the vertebral column, Abnormal rib morphology, Abnor...	ORPHA:261112
Wiedemann-Rautenstrauch Syndrome	Pneumonia, Cryptorchidism, Hypoplasia of the thymus, Short neck, Increased serum testosterone lev...	OMIM:264090
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatic failure, Decreased liver function, Lethargy, Protein avoidance, Episodic vomiting, Feedin...	ORPHA:415
Plaa-Associated Neurodevelopmental Disorder	Pectus carinatum, Postaxial foot polydactyly, Contractures of the large joints, Failure to thrive...	ORPHA:521426
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased body weight, Increased urinary cortisol level, Abdominal obesity	OMIM:615954
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Aspiration pneumonia, Cryptorchidism, Anterio...	OMIM:216340
Isolated Complex I Deficiency	Lethargy, Vomiting, Feeding difficulties	ORPHA:2609
Resistance To Thyrotropin-Releasing Hormone Syndrome	Lethargy, Depression	ORPHA:99832
Chronic Thromboembolic Pulmonary Hypertension	Osteomyelitis, Inflammation of the large intestine, Myeloproliferative disorder, Neoplasm	ORPHA:70591
Blau Syndrome	Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Camptodactyly of finger, Joint swelling...	OMIM:186580
Fanconi-Bickel Syndrome	Malabsorption, Poor appetite, Abdominal distention	OMIM:227810
Chikungunya	Periostitis, Joint stiffness, Joint swelling, Skin rash, Maculopapular exanthema, Synovitis, Crus...	ORPHA:324625
Myasthenic Syndrome, Congenital, 21, Presynaptic	Meconium ileus, Feeding difficulties	OMIM:617239
Charge Syndrome	Abnormal tibia morphology, Cryptorchidism, Dysphagia, Patent ductus arteriosus, Gastroesophageal ...	ORPHA:138
Carnitine-Acylcarnitine Translocase Deficiency	Lethargy	OMIM:212138
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Intestinal malrotation, Asplenia, High palate	OMIM:619657
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Macronodular adrenal hyperplasia, Adrenal hyperplasia, Truncal obesity, Osteoporosis,...	OMIM:219080
Schimke Immunoosseous Dysplasia	Fine hair, Coarse hair, Protuberant abdomen	OMIM:242900
Autosomal Recessive Ataxia, Beauce Type	Dysmetria, Ankle clonus, Gait disturbance, Ataxia, Urinary incontinence, Scoliosis, Kyphosis	ORPHA:88644
Smith-Lemli-Opitz Syndrome	Bifid uvula, Gastroesophageal reflux, Microglossia, Vomiting, Poor suck, Intestinal malrotation, ...	OMIM:270400
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Osteoarthritis	OMIM:619714
Multiple Mitochondrial Dysfunctions Syndrome 7	Lethargy, Decreased liver function, Feeding difficulties, Poor suck	OMIM:620423
Cushing Syndrome Due To Ectopic Acth Secretion	Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Diarrhea, Increased circulati...	ORPHA:99889
Mucopolysaccharidosis, Type Iiib	Ovoid thoracolumbar vertebrae, Thickened ribs	OMIM:252920
Zimmermann-Laband Syndrome 2	Macroglossia, Short neck, Kyphosis	OMIM:616455
Glycerol Kinase Deficiency	Vomiting, Adrenal insufficiency, Adrenocortical hypoplasia, Chronic pancreatitis, Cryptorchidism,...	OMIM:307030
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Decreased circulating renin level	ORPHA:231632
Aicardi Syndrome	Precocious puberty, Block vertebrae, Recurrent pneumonia, Butterfly vertebrae, Hiatus hernia, Mis...	OMIM:304050
Malakoplakia	Diarrhea, Abnormality of the menstrual cycle, Neoplasm of the colon, Orchitis, Neoplasm of the re...	ORPHA:556
Thyroid Ectopia	Macroglossia, Constipation, Dysphagia, Abdominal distention	ORPHA:95712
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Pectus carinatum, Contractures of the large joints, Failure to thrive, Single transverse palmar c...	OMIM:617527
Charge Syndrome	Cryptorchidism, Radial head subluxation, Absent radius, Hypoparathyroidism, Bilateral talipes equ...	OMIM:214800
Gaucher Disease, Type Ii	Feeding difficulties, Gastroesophageal reflux, Dysphagia, Protuberant abdomen	OMIM:230900
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Patellar aplasia, Bilateral single transverse palm...	ORPHA:3103
Neu-Laxova Syndrome 1	Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Micromelia, Ptery...	OMIM:256520
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Recurrent pneumonia, Congestive heart failure, Hyp...	OMIM:617303
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Abnormal cartilage morphology, Osteochondrosis, Bone cyst, Osteolysis	ORPHA:2396
Cranioectodermal Dysplasia 2	Clinodactyly, Short neck, High palate, Bile duct proliferation, Patent ductus arteriosus, Syndact...	OMIM:613610
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Tapered toe, Celiac disease, Bilateral cryptorchidism, Large for gestational age, Rib fusion, Cli...	ORPHA:544488
Autosomal Dominant Dopa-Responsive Dystonia	Rheumatoid arthritis, Gait ataxia, Talipes equinovarus, Progressive flexion contractures, Ataxia,...	ORPHA:98808
Cogan Syndrome	Keratitis, Episcleritis, Leukocytosis, Scleritis, Anemia, Thrombocytosis, Inflammatory abnormalit...	ORPHA:1467
Chronic Graft Versus Host Disease	Gastroesophageal reflux, Xerostomia, Abnormal vagina morphology, Urinary bladder inflammation, Fa...	ORPHA:99921
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b...	OMIM:101200
Neurofibromatosis Type 1	Neoplasm of the skin, Cryptorchidism, Multiple lipomas, Leukemia, Sarcoma, Precocious puberty, Pl...	ORPHA:636
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Lethargy, Episodic vomiting	OMIM:615751
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Craniorachischisis	Bifid sternum, Sirenomelia	ORPHA:63260
Progeroid Short Stature With Pigmented Nevi	Allergic rhinitis, Vomiting, Impaired T cell function, Allergic conjunctivitis, Thoracic scoliosi...	OMIM:176690
Keutel Syndrome	Recurrent otitis media, Calcification of cartilage, Short distal phalanx of finger, Recurrent sin...	ORPHA:85202
Alström Syndrome	Testicular fibrosis, Decreased circulating T4 concentration, Hepatosplenomegaly, Hyperinsulinemia...	ORPHA:64
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Prominent metopic ridge, Nephrolithiasis, Tapered finger, Long fingers, Thyroid hypoplasia, Calca...	ORPHA:521445
Ring Chromosome 7 Syndrome	Short 5th finger, Slender finger, Small hand, Bifid uvula, Prominent crus of helix, Hypogonadism,...	ORPHA:1449
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lethargy, Feeding difficulties in infancy	ORPHA:395
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Limitation of joint mobility, Skin rash, Myositis, Weight loss, Arth...	ORPHA:93672
Metachromatic Leukodystrophy, Juvenile Form	Abdominal distention	ORPHA:309263
Alexander Disease	Precocious puberty, Osteopenia, Failure to thrive, Infectious encephalitis, Short neck, Gait dist...	ORPHA:58
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Eczematoid dermatitis, Failure to thrive, Skin rash, Keratoconjunctivitis s...	ORPHA:79128
Fructose-1,6-Bisphosphatase Deficiency	Lethargy	OMIM:229700
Neutral Lipid Storage Myopathy	Chronic pancreatitis, Hepatic steatosis, Cholecystitis, Pineal cyst, Hepatomegaly, Diabetes mellitus	ORPHA:98908
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Arthritis	ORPHA:397744
Mend Syndrome	Broad hallux, Failure to thrive, Sacral dimple, Overlapping toe, Overlapping fingers, Cryptorchid...	ORPHA:401973
Glycine Encephalopathy	Lethargy, Poor suck	ORPHA:407
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Abnormal cortical gyration, Vomiting, Gastroesophageal reflux, Hypogonadism, Esophagitis, Megalob...	ORPHA:79351
Smith-Magenis Syndrome	Increased body weight, Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Kawasaki Disease	Strawberry tongue, Diarrhea, Hepatitis, Cervical lymphadenopathy, Leukocytosis, Skin rash, Cholec...	ORPHA:2331
Primrose Syndrome	Genu valgum, Cryptorchidism, Hip contracture, Ataxia, High palate, Irregular vertebral endplates,...	OMIM:259050
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Scoliosis, Acne, Kyphosis, Cleft palate	ORPHA:261190
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Radial deviation of finger, Pectus excavatum, Kyphosis, Clinodactyly	OMIM:609944
Fanconi Anemia, Complementation Group U	Absent thumb, Hypoplasia of the radius, Absent radius, Absent scaphoid, Aplasia of the 1st metaca...	OMIM:617247
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Subcorneal Pustular Dermatosis	Pustule, Pruritus, Rheumatoid arthritis, Increased circulating antibody level	ORPHA:48377
Pyomyositis	Myositis, Testicular teratoma, Leukocytosis, Recurrent cutaneous abscess formation	ORPHA:764
Esophageal Atresia	Abnormal vertebral morphology, Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal re...	ORPHA:1199
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Vomiting, Malnutrition, Nausea, Lethargy, Abdominal pain	OMIM:229600
Proteus Syndrome	Rib exostoses, Finger syndactyly, Cachexia, Abnormal metacarpal morphology, Calvarial hyperostosi...	ORPHA:744
Cockayne Syndrome A	Irregular menstruation, Square pelvis bone, Limitation of joint mobility, Failure to thrive, Hypo...	OMIM:216400
Listeriosis	Pneumonia, Ataxia, Acute kidney injury, Arteritis, Unusual skin infection, Stiff neck, Osteomyeli...	ORPHA:533
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Multicystic kidney dysplasia, Broad-based gait, Recurrent otitis media, Long hallux, Genu valgum,...	ORPHA:261552
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Lethargy	OMIM:277410
Plasminogen Deficiency, Type I	Conjunctivitis, Nephritis, Periodontitis, Nephrolithiasis	OMIM:217090
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Nephropathy, Hypospadias, Obesity, Renal insufficiency	OMIM:194072
Lymphatic Malformation 7	Abdominal distention	OMIM:617300
Right Atrial Isomerism	Asplenia, Abdominal situs ambiguus, Polysplenia	OMIM:208530
Pseudoaminopterin Syndrome	Slender finger, Synostosis of carpal bones, Short thumb, Sacrococcygeal pilonidal abnormality, Ta...	ORPHA:221120
Fusariosis	Pneumonia, Keratitis, Fasciitis, Osteomyelitis, Maculopapular exanthema, Myositis, Peritonitis, A...	ORPHA:228119
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Gout, Renal insufficiency, ...	OMIM:618061
Scorpion Envenomation	Diarrhea, Vomiting, Hyperhidrosis, Myocarditis, Abdominal pain, Acute pancreatitis	ORPHA:466677
Carney Complex	Follicular thyroid carcinoma, Neoplasm of the pharynx, Ovarian dermoid cyst, Neoplasm of the rect...	ORPHA:1359
Mend Syndrome	Broad hallux, Failure to thrive, Overlapping toe, Overlapping fingers, Crossed fused renal ectopi...	OMIM:300960
Foxg1 Syndrome Due To 14Q12 Microdeletion	Gastroesophageal reflux, Macroglossia, Scoliosis, Kyphosis, Prominent metopic ridge	ORPHA:261144
Neu-Laxova Syndrome 2	High palate, Protuberant abdomen, Cleft palate	OMIM:616038
Immunodeficiency 68	Septic arthritis, Recurrent skin infections, Lymphadenitis	OMIM:612260
Ramon Syndrome	Enlarged labia minora, Decreased body weight, Juvenile rheumatoid arthritis, Narrow palate, Scoli...	OMIM:266270
Urachal Cyst	Neoplasm, Leukocytosis, Abscess, Peritonitis, Abdominal pain	ORPHA:488
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Vomiting, Lethargy, Feeding difficulties in infancy	OMIM:277400
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Feeding difficulties in infancy, Thymus hyperplasia	OMIM:619036
Congenital Analbuminemia	Hypoalbuminemia, Obesity, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Small for gestat...	ORPHA:86816
Tetragametic Chimerism	Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt...	ORPHA:199310
Parenteral Nutrition-Associated Cholestasis	Villous atrophy, Hyperlipidemia, Abnormality of cytokine secretion, Abnormal circulating fatty-ac...	ORPHA:567983
Bardet-Biedl Syndrome	Hepatic fibrosis, Inflammation of the large intestine, Hypogonadism, Decreased testicular size, T...	ORPHA:110
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Kyphosis, Cryptorchidism, Chronic constipation, Thrombocytopenia, Hepatomegaly, High palate, Chro...	OMIM:619005
Kufor-Rakeb Syndrome	Lethargy, Apathy, Bradykinesia, Dysphagia, Bowel incontinence	ORPHA:306674
Mucopolysaccharidosis Type 2, Severe Form	Abnormal vertebral morphology, Limitation of joint mobility, Camptodactyly of finger, Heparan sul...	ORPHA:217085
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased body weight, Small for gestational age	OMIM:274300
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Hypogonadotropic hypogonadism, Lethargy, Constipation, Feeding difficulties in infancy, Macroglossia	ORPHA:226307
Microphthalmia With Linear Skin Defects Syndrome	Abnormal rectum morphology, Abnormality of the anus, Abnormal eyelash morphology, Feeding difficu...	ORPHA:2556
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Meckel diverticulum, Annular pancreas, Intestinal malrotati...	OMIM:265380
Heterotaxy, Visceral, 1, X-Linked	Block vertebrae, Absence of the sacrum, Polysplenia, Abdominal situs inversus, Posteriorly placed...	OMIM:306955
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal vertebral morphology, Limitation of joint mobility, Camptodactyly of finger, Heparan sul...	ORPHA:217093
Cardiogenic Shock	Elevated circulating creatinine concentration, Oliguria	ORPHA:97292
Aspartylglucosaminuria	Platyspondyly, Spondylolysis, Diarrhea, Spondylolisthesis, Beaking of vertebral bodies, Vacuolate...	OMIM:208400
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Lethargy, Glossitis, Stomatitis, Feeding difficulties	ORPHA:79282
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal vertebral morphology, Cryptorchidism, Scleritis, Abnormal pelvis bone morphology, Hydrou...	ORPHA:2273
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Bifid uvula, Gastroesophageal reflux, Absent nipple, Ankyloglossia, Congenital hypothyroidism, Th...	OMIM:620186
Complete Atrioventricular Septal Defect	Lethargy, Feeding difficulties	ORPHA:1329
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Decreased circulating renin level	ORPHA:231580
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Coat hanger sign of ribs, Thoracic hypoplasia	ORPHA:254534
Marfan Syndrome	High, narrow palate, Osteopenia, Pectus carinatum, Slender build, Reduced bone mineral density, S...	ORPHA:558
Japanese Encephalitis	Diarrhea, Vomiting, Anorexia, Infectious encephalitis, Increased circulating antibody level, Neut...	ORPHA:79139
Unilateral Polymicrogyria	Nasogastric tube feeding, Abnormal posturing, Pseudobulbar paralysis	ORPHA:268943
Craniotubular Dysplasia, Ikegawa Type	Platyspondyly, Broad femoral neck, Broad ribs, Increased intervertebral space, Diaphyseal dysplas...	OMIM:619727
Fraser Syndrome	Small scrotum, Toe syndactyly, Abnormal vagina morphology, Finger syndactyly, Female pseudohermap...	ORPHA:2052
Myasthenic Syndrome, Congenital, 20, Presynaptic	Dysphagia, Scoliosis, Kyphosis, Feeding difficulties, Poor suck	OMIM:617143
Biotinidase Deficiency	Alopecia, Lethargy	ORPHA:79241
Mitochondrial Complex I Deficiency, Nuclear Type 1	Vomiting, Lethargy, Feeding difficulties in infancy, Hepatic failure	OMIM:252010
Aicardi-Goutières Syndrome	Difficulty walking, Chilblains, Multiple joint contractures, Myositis, Arthritis, Micropenis, Pan...	ORPHA:51
Cerebrocostomandibular Syndrome	Posterior rib gap, Clinodactyly of the 5th finger, Bell-shaped thorax, Kyphosis	ORPHA:1393
Neurodegeneration And Seizures Due To Copper Transport Defect	Lethargy	OMIM:620306
Meckel Syndrome	Accessory spleen, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Cryptorchidism, Congenital h...	ORPHA:564
Branchioskeletogenital Syndrome	Bifid uvula, Absent external genitalia, Absent nipple, Abnormality of the vertebral spinous proce...	ORPHA:1299
Blau Syndrome	Posterior uveitis, Nephropathy, Limitation of joint mobility, Keratitis, Polyarticular arthritis,...	ORPHA:90340
Heterotaxy, Visceral, 5, Autosomal	Absence of the sacrum, Abdominal situs inversus, Intestinal malrotation, Abdominal situs ambiguus...	OMIM:270100
Meckel Syndrome, Type 1	Accessory spleen, Malformation of the hepatic ductal plate, Intestinal malrotation, Splenomegaly,...	OMIM:249000
Hereditary Sensory And Autonomic Neuropathy Type 4	Chronic kidney disease, Abnormality of the ankle, Painless fractures due to injury, Fasciitis, Di...	ORPHA:642
Atelis Syndrome 2	Gastroesophageal reflux, Elevated circulating thyroid-stimulating hormone concentration, Hyperins...	OMIM:620185
Lipodystrophy, Familial Partial, Type 7	Type I diabetes mellitus, Vomiting, Diarrhea, Recurrent pancreatitis, Dysphagia, Feeding difficul...	OMIM:606721
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Secondary amenorrhea, Increased urinary cortisol level, Truncal obesity, Osteoporosis...	OMIM:610489
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Thin ribs	OMIM:614833
Cockayne Syndrome B	Small for gestational age, Square pelvis bone, Limitation of joint mobility, Failure to thrive, I...	OMIM:133540
Catastrophic Antiphospholipid Syndrome	Myocarditis, Gastrointestinal infarctions, Arthritis	ORPHA:464343
Feingold Syndrome Type 1	Nephritis, Horseshoe kidney, Renal insufficiency, Vesicoureteral reflux, Hydronephrosis, Patent d...	ORPHA:391641
Histiocytoid Cardiomyopathy	Lethargy, Vomiting, Cleft palate	ORPHA:137675
Pontocerebellar Hypoplasia, Type 17	Gastroesophageal reflux, Dysphagia, Kyphosis	OMIM:619909
Tracheobronchopathia Osteochondroplastica	Pneumonia, Calcification of cartilage, Recurrent pneumonia, Esophagitis	ORPHA:3348
Restrictive Dermopathy	Thin ribs, Osteopenia, Microcolon, Arthrogryposis multiplex congenita, Camptodactyly of finger, I...	ORPHA:1662
Spastic Paraplegia 9A, Autosomal Dominant	Carpal bone hypoplasia, Abnormal pelvic girdle bone morphology	OMIM:601162
Chromosome 1P36 Deletion Syndrome, Distal	Cryptorchidism, High palate, Short foot, Hypospadias, Dysphagia, Ectopic kidney, Patent ductus ar...	OMIM:607872
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	ORPHA:320
Pineoblastoma	Pinealoma, Lethargy, Retinoblastoma	ORPHA:251909
Fucosidosis	Kyphosis, Abnormality of the gallbladder, Hypothyroidism, Hyperhidrosis, Hepatomegaly, Anterior b...	ORPHA:349
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Osteopenia, Thin ribs, Sandal gap, Delayed cranial suture clo...	OMIM:619127
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Tube feeding, Feeding difficulties, Protuberant abdomen, Hypertrichosis	OMIM:619479
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Talipes equinovarus, 2-3 finger syndactyly, Broad toe, Short greater sciatic notch, ...	OMIM:312870
Amoebiasis Due To Free-Living Amoebae	Nausea, Lethargy, Vomiting	ORPHA:68
Chromosome Xq26.3 Duplication Syndrome	Pituitary adenoma, Kyphosis, Increased circulating prolactin concentration, Hypopituitarism, Hype...	OMIM:300942
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Decreased circulating renin level	ORPHA:231625
Cockayne Syndrome	Difficulty walking, Cryptorchidism, Cachexia, Ataxia, Urinary incontinence, Nephrotic syndrome, G...	ORPHA:191
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Broad-based gait, Ankyloglossia, Genu valgum, Decreased body weight, Hematuria, Talipes equinovar...	OMIM:619475
Luscan-Lumish Syndrome	Advanced ossification of carpal bones	OMIM:616831
Bardet-Biedl Syndrome 12	Hydronephrosis, Obesity, Hydroureter, Cystic renal dysplasia	OMIM:615989
Gaisböck Syndrome	Nephrocalcinosis, Hypernatriuria, Obesity, Hyperuricemia, Hypercholesterolemia, Hypertriglyceride...	ORPHA:90041
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Parathyroid hypoplasia, Psoriasiform dermatitis, Abnormality of T cell physiology, Hypoparathyroi...	ORPHA:2237
Orofaciodigital Syndrome Type 4	High, narrow palate, Bifid uvula, Feeding difficulties, Perineal fistula, Submucous cleft hard pa...	ORPHA:2753
Infantile Nephropathic Cystinosis	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tubular dys...	ORPHA:411629
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	High palate, Kyphosis, Cryptorchidism	OMIM:619244
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Large for gestational age, Gait ataxia, Joint hypermobility, Arachnodactyly, Hyperlordosis, Large...	OMIM:617011
Lethal Congenital Contracture Syndrome 5	Thin ribs	OMIM:615368
Autosomal Recessive Malignant Osteopetrosis	Narrow chest, Abnormal epiphysis morphology, Reduced bone mineral density, Otitis media, Chronic ...	ORPHA:667
17Q11 Microdeletion Syndrome	Glioma, Brainstem glioma, Brain neoplasm, Leukemia, Cerebellar glioma, Precocious puberty, Plexif...	ORPHA:97685
Adrenocortical Carcinoma	Increased urinary cortisol level, Increased body weight, Abnormality of urine homeostasis, Hypoka...	ORPHA:1501
Mowat-Wilson Syndrome	Abnormal enteric ganglion morphology, Vomiting, Supernumerary nipple, Submucous cleft hard palate...	OMIM:235730
Paroxysmal Nocturnal Hemoglobinuria	Esophageal spasms, Episodic abdominal pain, Lethargy, Dysphagia, Impotence, Odynophagia	ORPHA:447
Arboleda-Tham Syndrome	Highly arched eyebrow, Gastroesophageal reflux, Sparse medial eyebrow, Intestinal malrotation, Th...	OMIM:616268
Rett Syndrome, Congenital Variant	Gastroesophageal reflux, Constipation, Pachygyria, Scoliosis, Kyphosis, Feeding difficulties, Sim...	OMIM:613454
Fabry Disease	Nephropathy, Abnormal femur morphology, Renal insufficiency, Hematuria, Proteinuria, Achalasia, A...	ORPHA:324
Postencephalitic Parkinsonism	Camptocormia, Vomiting, Dysphagia, Kyphosis	ORPHA:97349
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Hyperlipidemia, Nephrolithiasis, Increased body weight, Abdomin...	ORPHA:189427
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Failure to thrive, Renal tubular acidosis, Elevated circulating creatine kinase concentration, In...	ORPHA:264580
Basilar Impression, Primary	Short neck, Kyphoscoliosis	OMIM:109500
Dermatomyositis	Abnormal eosinophil morphology, Heliotrope rash, Lymphoma, Neoplasm, Skin rash, Lung adenocarcino...	ORPHA:221
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Gastroesophageal reflux, Aspiration pneumonia, Ineffective esophageal peristalsis, Chronic consti...	OMIM:619482
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Renal tubular acidosis, Elevated circulating creatine kinase concentration, Increased body weight...	ORPHA:79240
Tetraamelia Syndrome 1	Asplenia, Anal atresia, Adrenal gland agenesis, Cleft palate	OMIM:273395
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Decreased circulating renin level	OMIM:615474
Sotos Syndrome	Abnormal vertebral morphology, Decreased fertility, Cryptorchidism, Hip contracture, Talipes equi...	ORPHA:821
Atelosteogenesis, Type I	Protuberant abdomen, Cleft palate	OMIM:108720
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Obesity, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Truncus Arteriosus	Hypoplasia of the thymus, Adrenocortical abnormality	ORPHA:3384
Exercise-Induced Malignant Hyperthermia	Hepatic failure, Vomiting, Decreased liver function, Lethargy, Nausea	ORPHA:466650
Velocardiofacial Syndrome	Velopharyngeal insufficiency, Impaired T cell function, Cryptorchidism, Submucous cleft hard pala...	OMIM:192430
Systemic Lupus Erythematosus	Discoid lupus rash, Malar rash, Hematuria, Proteinuria, Weight loss, Lupus nephritis, Arthritis, ...	ORPHA:536
Pseudoxanthoma Elasticum, Forme Fruste	Scoliosis, Kyphosis, Abnormal sternum morphology	OMIM:177850
Pagod Syndrome	Multicystic kidney dysplasia, Abnormal clavicle morphology, Abnormality of the uterus, Abnormal m...	ORPHA:991
Sitosterolemia 1	Arthritis, Impaired platelet aggregation	OMIM:210250
Proteasome-Associated Autoinflammatory Syndrome 1	Irregular menstruation, Parotitis, Premature graying of hair, Hypertrichosis, Chronic constipatio...	OMIM:256040
Cockayne Syndrome Type 3	Gastroesophageal reflux, Splenomegaly, Keratoconjunctivitis sicca, Hepatomegaly, Scoliosis, Kypho...	ORPHA:90324
Scalp-Ear-Nipple Syndrome	Duplication of renal pelvis, Recurrent urinary tract infections, Pyelonephritis, Abnormality of t...	ORPHA:2036
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Dilatation of the renal pelvis, Hyperechogenic kidneys, Increased circulating fe...	OMIM:619534
Atresia Of Urethra	Abdominal distention	ORPHA:105
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Blomstrand Lethal Chondrodysplasia	Protruding tongue, Protuberant abdomen	ORPHA:50945
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Anal stenosis, Gastroesophageal reflux, Rectovestibular fistula, Fair hair, Feeding difficulties ...	ORPHA:280633
Loeys-Dietz Syndrome	Bifid uvula, Pectus carinatum, Joint dislocation, Uterine rupture, Camptodactyly of finger, Joint...	ORPHA:60030
Autosomal Recessive Spastic Paraplegia Type 35	Enuresis nocturna, Dysdiadochokinesis, Difficulty walking, Dysmetria, Ankle clonus, Urinary incon...	ORPHA:171629
Alagille Syndrome 1	Focal segmental glomerulosclerosis, Short distal phalanx of finger, Renal hypoplasia, Failure to ...	OMIM:118450
Hypoplasminogenemia	Periodontitis, Abnormality of the ovary, Nephrolithiasis, Abnormal fallopian tube morphology, Duo...	ORPHA:722
Branchiooculofacial Syndrome	Pyloric stenosis, Gastroesophageal reflux, Short thumb, Fusion of middle ear ossicles, Elbow flex...	OMIM:113620
Sotos Syndrome	Increased body weight, Tall stature, Overgrowth	OMIM:117550
Joubert Syndrome 39	Overweight, Polycystic kidney dysplasia	OMIM:619562
Osteopetrosis With Renal Tubular Acidosis	Prominent floating ribs, Bone marrow hypocellularity, Failure to thrive, Secondary hyperparathyro...	ORPHA:2785
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Ectopic anus, Esophageal atresia, Abdominal distention, Bifid tongue, Anal atresia	ORPHA:93271
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased body weight	OMIM:615830
Hydranencephaly	Lethargy	ORPHA:2177
Eisenmenger Syndrome	Lethargy, Abdominal distention	ORPHA:97214
Multicystic Dysplastic Kidney	Abdominal distention	ORPHA:1851
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	ORPHA:90795
Sacral Defect With Anterior Meningocele	Sacral lipoma, Constipation, Rectal abscess	OMIM:600145
Shprintzen Omphalocele Syndrome	Narrow chest, Lumbar hyperlordosis, Decreased body weight, Anal atresia, Scoliosis, Kyphosis	OMIM:182210
Choreoacanthocytosis	Falls, Protruding tongue, Loss of ambulation, Weight loss, Arthritis, Dysphagia	ORPHA:2388
Hellp Syndrome	Increased body weight, Proteinuria, Acute kidney injury, Hemoglobinuria	ORPHA:244242
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	ORPHA:90793
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	OMIM:202010
Lymphedema-Distichiasis Syndrome	Conjunctivitis, Kyphosis, Cleft palate	OMIM:153400
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Joint contracture of the hand, Carpal synostosis, Femoral bowing, Humeroradial synostosis, Ulnar ...	OMIM:201750
Penile Agenesis	Anorectal anomaly, Anal atresia, Tracheoesophageal fistula, Rectal fistula	ORPHA:49
Cushing Disease	Increased body weight, Increased urinary cortisol level, Truncal obesity, Abdominal obesity	ORPHA:96253
Generalized Arterial Calcification Of Infancy	Abnormal hip joint morphology, Abnormal calcification of the carpal bones, Stippled calcification...	ORPHA:51608
Familial Thoracic Aortic Aneurysm And Aortic Dissection	High, narrow palate, Abnormal sternum morphology, Arachnodactyly, Scoliosis, Patent ductus arteri...	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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