TaoMedAI/RareMedData huggingface dataset:
Gene: RBM8A
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Fibular aplasia (HP:0002990)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Fibular aplasia (HP:0002990)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Genu varum (HP:0002970)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Genu varum (HP:0002970)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBM8A
Phenotype: Corneal opacity (HP:0007957)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Strabismus (HP:0000486)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Anteverted nares (HP:0000463)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Cataract (HP:0000518)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBM8A
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Ptosis (HP:0000508)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBM8A
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: DLEC1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Esophageal epidermoid carcinoma; Esophageal squamous cell carcinoma; Squamous cell carcinoma of the esophagus; ESCC (ORPHA:99977)
Gene: DLEC1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Esophageal epidermoid carcinoma; Esophageal squamous cell carcinoma; Squamous cell carcinoma of the esophagus; ESCC (ORPHA:99977)
Gene: DLEC1
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Esophageal epidermoid carcinoma; Esophageal squamous cell carcinoma; Squamous cell carcinoma of the esophagus; ESCC (ORPHA:99977)
Gene: DLEC1
Phenotype: Chest pain (HP:0100749)
Associated disease: Esophageal epidermoid carcinoma; Esophageal squamous cell carcinoma; Squamous cell carcinoma of the esophagus; ESCC (ORPHA:99977)
Gene: DLEC1
Phenotype: Cough (HP:0012735)
Associated disease: Esophageal epidermoid carcinoma; Esophageal squamous cell carcinoma; Squamous cell carcinoma of the esophagus; ESCC (ORPHA:99977)
Gene: DLEC1
Phenotype: Esophageal carcinoma (HP:0011459)
Associated disease: Esophageal epidermoid carcinoma; Esophageal squamous cell carcinoma; Squamous cell carcinoma of the esophagus; ESCC (ORPHA:99977)
Gene: DLEC1
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Esophageal epidermoid carcinoma; Esophageal squamous cell carcinoma; Squamous cell carcinoma of the esophagus; ESCC (ORPHA:99977)
Gene: DLEC1
Phenotype: Clinodactyly of the 5th toe (HP:0001864)
Associated disease: Esophageal epidermoid carcinoma; Esophageal squamous cell carcinoma; Squamous cell carcinoma of the esophagus; ESCC (ORPHA:99977)
Gene: WDR1
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: PERIODIC FEVER, IMMUNODEFICIENCY, AND THROMBOCYTOPENIA SYNDROME (OMIM:150550)
Gene: WDR1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: PERIODIC FEVER, IMMUNODEFICIENCY, AND THROMBOCYTOPENIA SYNDROME (OMIM:150550)
Gene: WDR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PERIODIC FEVER, IMMUNODEFICIENCY, AND THROMBOCYTOPENIA SYNDROME (OMIM:150550)
Gene: WDR1
Phenotype: Pyoderma gangrenosum (HP:0025452)
Associated disease: PERIODIC FEVER, IMMUNODEFICIENCY, AND THROMBOCYTOPENIA SYNDROME (OMIM:150550)
Gene: WDR1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: PERIODIC FEVER, IMMUNODEFICIENCY, AND THROMBOCYTOPENIA SYNDROME (OMIM:150550)
Gene: WDR1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: PERIODIC FEVER, IMMUNODEFICIENCY, AND THROMBOCYTOPENIA SYNDROME (OMIM:150550)
Gene: WDR1
Phenotype: Diarrhea (HP:0002014)
Associated disease: PERIODIC FEVER, IMMUNODEFICIENCY, AND THROMBOCYTOPENIA SYNDROME (OMIM:150550)
Gene: WDR1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PERIODIC FEVER, IMMUNODEFICIENCY, AND THROMBOCYTOPENIA SYNDROME (OMIM:150550)
Gene: WDR1
Phenotype: Intermittent thrombocytopenia (HP:0004854)
Associated disease: PERIODIC FEVER, IMMUNODEFICIENCY, AND THROMBOCYTOPENIA SYNDROME (OMIM:150550)
Gene: WDR1
Phenotype: Chronic oral candidiasis (HP:0009098)
Associated disease: PERIODIC FEVER, IMMUNODEFICIENCY, AND THROMBOCYTOPENIA SYNDROME (OMIM:150550)
Gene: WDR1
Phenotype: Recurrent fever (HP:0001954)
Associated disease: PERIODIC FEVER, IMMUNODEFICIENCY, AND THROMBOCYTOPENIA SYNDROME (OMIM:150550)
Gene: WDR1
Phenotype: Abnormal CD4:CD8 ratio (HP:0031394)
Associated disease: PERIODIC FEVER, IMMUNODEFICIENCY, AND THROMBOCYTOPENIA SYNDROME (OMIM:150550)
Gene: WDR1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: PERIODIC FEVER, IMMUNODEFICIENCY, AND THROMBOCYTOPENIA SYNDROME (OMIM:150550)
Gene: WDR1
Phenotype: Abscess (HP:0025615)
Associated disease: PERIODIC FEVER, IMMUNODEFICIENCY, AND THROMBOCYTOPENIA SYNDROME (OMIM:150550)
Gene: WDR1
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: PERIODIC FEVER, IMMUNODEFICIENCY, AND THROMBOCYTOPENIA SYNDROME (OMIM:150550)
Gene: WDR1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: PERIODIC FEVER, IMMUNODEFICIENCY, AND THROMBOCYTOPENIA SYNDROME (OMIM:150550)
Gene: WDR1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: PERIODIC FEVER, IMMUNODEFICIENCY, AND THROMBOCYTOPENIA SYNDROME (OMIM:150550)
Gene: AMMECR1
Phenotype: Tapered finger (HP:0001182)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: AMMECR1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: AMMECR1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMMECR1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMMECR1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Glomerulopathy (HP:0100820)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: AMMECR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: AMMECR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMMECR1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: AMMECR1
Phenotype: Proteinuria (HP:0000093)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: AMMECR1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMMECR1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Cleft hard palate (HP:0410005)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMMECR1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMMECR1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMMECR1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMMECR1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Large forehead (HP:0002003)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMMECR1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMMECR1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Broad distal phalanx of finger (HP:0009836)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMMECR1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMMECR1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMMECR1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMMECR1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMMECR1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Anemia (HP:0001903)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMMECR1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Dental crowding (HP:0000678)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMMECR1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Synophrys (HP:0000664)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Short stature (HP:0004322)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMMECR1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMMECR1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Elliptocytosis (HP:0004445)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Elliptocytosis (HP:0004445)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: AMMECR1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMMECR1
Phenotype: Short femur (HP:0003097)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMMECR1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMMECR1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: AMMECR1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: AMMECR1
Phenotype: Malar flattening (HP:0000272)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: AMMECR1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: AMMECR1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMMECR1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMMECR1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMMECR1
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: AMMECR1
Phenotype: Flat face (HP:0012368)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Overfolded helix (HP:0000396)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: AMMECR1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMMECR1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: AMMECR1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)