TaoMedAI/RareMedData huggingface dataset:
Gene: COG7
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)
Gene: COG7
Phenotype: Short stature (HP:0004322)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)
Gene: COG7
Phenotype: Neonatal asphyxia (HP:0012768)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Flat forehead (HP:0004425)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Short nose (HP:0003196)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Inverted nipples (HP:0003186)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)
Gene: COG7
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Jaundice (HP:0000952)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)
Gene: COG7
Phenotype: Jaundice (HP:0000952)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Perimembranous ventricular septal defect (HP:0011682)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Retrognathia (HP:0000278)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)
Gene: COG7
Phenotype: Retrognathia (HP:0000278)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)
Gene: COG7
Phenotype: Death in infancy (HP:0001522)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)
Gene: COG7
Phenotype: Small for gestational age (HP:0001518)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)
Gene: COG7
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Growth delay (HP:0001510)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)
Gene: COG7
Phenotype: Low-set ears (HP:0000369)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Narrow forehead (HP:0000341)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Micrognathia (HP:0000347)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Micrognathia (HP:0000347)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)
Gene: COG7
Phenotype: Type II transferrin isoform profile (HP:0012301)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Type II transferrin isoform profile (HP:0012301)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)
Gene: COG7
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)
Gene: COG7
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Delayed myelination (HP:0012448)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Brain atrophy (HP:0012444)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)
Gene: COG7
Phenotype: Short neck (HP:0000470)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)
Gene: COG7
Phenotype: Short neck (HP:0000470)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Wide nose (HP:0000445)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Splenomegaly (HP:0001744)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: CCNQ
Phenotype: Septate vagina (HP:0001153)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Duane anomaly (HP:0009921)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCNQ
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCNQ
Phenotype: Seizure (HP:0001250)
Associated disease: Syndactyly-telecanthus-anogenital and renal malformations syndrome; STAR syndrome (ORPHA:140952)
Gene: CCNQ
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: Syndactyly-telecanthus-anogenital and renal malformations syndrome; STAR syndrome (ORPHA:140952)
Gene: CCNQ
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCNQ
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Syndactyly-telecanthus-anogenital and renal malformations syndrome; STAR syndrome (ORPHA:140952)
Gene: CCNQ
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: Syndactyly-telecanthus-anogenital and renal malformations syndrome; STAR syndrome (ORPHA:140952)
Gene: CCNQ
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Syndactyly-telecanthus-anogenital and renal malformations syndrome; STAR syndrome (ORPHA:140952)
Gene: CCNQ
Phenotype: Labial hypoplasia (HP:0000066)
Associated disease: Syndactyly-telecanthus-anogenital and renal malformations syndrome; STAR syndrome (ORPHA:140952)
Gene: CCNQ
Phenotype: Labial hypoplasia (HP:0000066)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Syndactyly-telecanthus-anogenital and renal malformations syndrome; STAR syndrome (ORPHA:140952)
Gene: CCNQ
Phenotype: Hydroureter (HP:0000072)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCNQ
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCNQ
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCNQ
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCNQ
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCNQ
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Rectovaginal fistula (HP:0000143)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Pelvic kidney (HP:0000125)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Syndactyly-telecanthus-anogenital and renal malformations syndrome; STAR syndrome (ORPHA:140952)
Gene: CCNQ
Phenotype: Anal atresia (HP:0002023)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Anal atresia (HP:0002023)
Associated disease: Syndactyly-telecanthus-anogenital and renal malformations syndrome; STAR syndrome (ORPHA:140952)
Gene: CCNQ
Phenotype: 4-5 toe syndactyly (HP:0004692)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Syringomyelia (HP:0003396)
Associated disease: Syndactyly-telecanthus-anogenital and renal malformations syndrome; STAR syndrome (ORPHA:140952)
Gene: CCNQ
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCNQ
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Crossed fused renal ectopia (HP:0004736)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Congenital onset (HP:0003577)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: 3-5 toe syndactyly (HP:0010716)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCNQ
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: 3-4 toe syndactyly (HP:0009779)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCNQ
Phenotype: Peripheral pulmonary artery stenosis (HP:0004969)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCNQ
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCNQ
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Syndactyly-telecanthus-anogenital and renal malformations syndrome; STAR syndrome (ORPHA:140952)
Gene: CCNQ
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCNQ
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCNQ
Phenotype: Eyelid coloboma (HP:0000625)
Associated disease: Syndactyly-telecanthus-anogenital and renal malformations syndrome; STAR syndrome (ORPHA:140952)
Gene: CCNQ
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCNQ
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCNQ
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Short stature (HP:0004322)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Short stature (HP:0004322)
Associated disease: Syndactyly-telecanthus-anogenital and renal malformations syndrome; STAR syndrome (ORPHA:140952)
Gene: CCNQ
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCNQ
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCNQ
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: Syndactyly-telecanthus-anogenital and renal malformations syndrome; STAR syndrome (ORPHA:140952)
Gene: CCNQ
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCNQ
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: Syndactyly-telecanthus-anogenital and renal malformations syndrome; STAR syndrome (ORPHA:140952)
Gene: CCNQ
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCNQ
Phenotype: Mitral atresia (HP:0011560)
Associated disease: Syndactyly-telecanthus-anogenital and renal malformations syndrome; STAR syndrome (ORPHA:140952)
Gene: CCNQ
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCNQ
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Valvular pulmonary stenosis (HP:0034350)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Macular dystrophy (HP:0007754)
Associated disease: Syndactyly-telecanthus-anogenital and renal malformations syndrome; STAR syndrome (ORPHA:140952)
Gene: CCNQ
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Syndactyly-telecanthus-anogenital and renal malformations syndrome; STAR syndrome (ORPHA:140952)
Gene: CCNQ
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCNQ
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCNQ
Phenotype: Small for gestational age (HP:0001518)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Gene: CCNQ
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCNQ
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCNQ
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)