TaoMedAI/RareMedData huggingface dataset:
Gene: RAG2
Phenotype: Pneumonia (HP:0002090)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG2
Phenotype: Abnormal T cell count (HP:0011839)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG2
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS (OMIM:233650)
Gene: RAG2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS (OMIM:233650)
Gene: RAG2
Phenotype: Recurrent upper and lower respiratory tract infections (HP:0200117)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG2
Phenotype: Erythroderma (HP:0001019)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG2
Phenotype: Erythroderma (HP:0001019)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG2
Phenotype: Thyroiditis (HP:0100646)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG2
Phenotype: Thickened skin (HP:0001072)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG2
Phenotype: Thickened skin (HP:0001072)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG2
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG2
Phenotype: Fever (HP:0001945)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG2
Phenotype: Fever (HP:0001945)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG2
Phenotype: Anemia (HP:0001903)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG2
Phenotype: Anemia (HP:0001903)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG2
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG2
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS (OMIM:233650)
Gene: RAG2
Phenotype: Abnormal lymphocyte morphology (HP:0004332)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG2
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG2
Phenotype: Hypoproteinemia (HP:0003075)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG2
Phenotype: Protracted diarrhea (HP:0004385)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG2
Phenotype: Hypoplasia of the thymus (HP:0000778)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG2
Phenotype: Severe combined immunodeficiency (HP:0004430)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Gene: RAG2
Phenotype: Severe combined immunodeficiency (HP:0004430)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG2
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG2
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG2
Phenotype: Panhypogammaglobulinemia (HP:0003139)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Gene: RAG2
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG2
Phenotype: Abnormal total natural killer cell count (HP:0040089)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG2
Phenotype: Decreased CD3+ T cell proportion (HP:0045080)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG2
Phenotype: Pallor (HP:0000980)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG2
Phenotype: Pruritus (HP:0000989)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG2
Phenotype: Skin rash (HP:0000988)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG2
Phenotype: Dry skin (HP:0000958)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG2
Phenotype: Edema (HP:0000969)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG2
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG2
Phenotype: Mastoiditis (HP:0000265)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Gene: RAG2
Phenotype: Alopecia (HP:0001596)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG2
Phenotype: Alopecia (HP:0001596)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG2
Phenotype: Reduced antigen-specific T cell proliferation (HP:0031402)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG2
Phenotype: Lymphadenitis (HP:0002840)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Gene: RAG2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG2
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG2
Phenotype: Decreased mitogen-induced T-cell proliferation (HP:0031381)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG2
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG2
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG2
Phenotype: Otitis media (HP:0000388)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Gene: RAG2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG2
Phenotype: Autoimmunity (HP:0002960)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG2
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG2
Phenotype: Combined immunodeficiency (HP:0005387)
Associated disease: COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS (OMIM:233650)
Gene: RAG2
Phenotype: Severe B lymphocytopenia (HP:0005365)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG2
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Gene: RAG2
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS (OMIM:233650)
Gene: RAG2
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Gene: RAG2
Phenotype: Short toe (HP:0001831)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG2
Phenotype: Recurrent opportunistic infections (HP:0005390)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Gene: RAG2
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG2
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG2
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG2
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG2
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RALA
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RALA
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RALA
Phenotype: Seizure (HP:0001250)
Associated disease: HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME (OMIM:619311)
Gene: RALA
Phenotype: Hypotonia (HP:0001252)
Associated disease: HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME (OMIM:619311)
Gene: RALA
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME (OMIM:619311)
Gene: RALA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME (OMIM:619311)
Gene: RALA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RALA
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RALA
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RALA
Phenotype: Absent speech (HP:0001344)
Associated disease: HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME (OMIM:619311)
Gene: RALA
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME (OMIM:619311)
Gene: RALA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RALA
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RALA
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RALA
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME (OMIM:619311)
Gene: RALA
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RALA
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME (OMIM:619311)
Gene: RALA
Phenotype: Congenital onset (HP:0003577)
Associated disease: HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME (OMIM:619311)
Gene: RALA
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RALA
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RALA
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RALA
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RALA
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RALA
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RALA
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RALA
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RALA
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RALA
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RALA
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME (OMIM:619311)
Gene: RALA
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME (OMIM:619311)
Gene: RALA
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Autistic behavior (HP:0000729)
Associated disease: HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME (OMIM:619311)
Gene: RALA
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RALA
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RALA
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RALA
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Epicanthus (HP:0000286)
Associated disease: HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME (OMIM:619311)
Gene: RALA
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Clinodactyly (HP:0030084)
Associated disease: HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME (OMIM:619311)
Gene: RALA
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME (OMIM:619311)
Gene: RALA
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RALA
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RALA
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RALA
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RALA
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME (OMIM:619311)
Gene: RALA
Phenotype: Low-set ears (HP:0000369)
Associated disease: HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME (OMIM:619311)
Gene: RALA
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RALA
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Short philtrum (HP:0000322)
Associated disease: HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME (OMIM:619311)
Gene: RALA
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Pointed chin (HP:0000307)
Associated disease: HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME (OMIM:619311)
Gene: RALA
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RALA
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Anteverted nares (HP:0000463)
Associated disease: HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME (OMIM:619311)
Gene: RALA
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME (OMIM:619311)
Gene: RALA
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RALA
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Ptosis (HP:0000508)
Associated disease: HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME (OMIM:619311)
Gene: RALA
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Horizontal eyebrow (HP:0011228)
Associated disease: HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME (OMIM:619311)
Gene: RALA
Phenotype: Prominent forehead (HP:0011220)
Associated disease: HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME (OMIM:619311)