TaoMedAI/RareMedData huggingface dataset:
Gene: DHCR24
Phenotype: Micrognathia (HP:0000347)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Micrognathia (HP:0000347)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Micromelia (HP:0002983)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHCR24
Phenotype: Hypoplastic nasal bridge (HP:0005281)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Strabismus (HP:0000486)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Strabismus (HP:0000486)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Anteverted nares (HP:0000463)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Short neck (HP:0000470)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHCR24
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Telecanthus (HP:0000506)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Talipes (HP:0001883)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Talipes (HP:0001883)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHFR
Phenotype: Poor head control (HP:0002421)
Associated disease: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY (OMIM:613839)
Gene: DHFR
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY (OMIM:613839)
Gene: DHFR
Phenotype: Hypotonia (HP:0001252)
Associated disease: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY (OMIM:613839)
Gene: DHFR
Phenotype: Ataxia (HP:0001251)
Associated disease: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY (OMIM:613839)
Gene: DHFR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY (OMIM:613839)
Gene: DHFR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY (OMIM:613839)
Gene: DHFR
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY (OMIM:613839)
Gene: DHFR
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY (OMIM:613839)
Gene: DHFR
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY (OMIM:613839)
Gene: DHFR
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY (OMIM:613839)
Gene: DHFR
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY (OMIM:613839)
Gene: DHFR
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY (OMIM:613839)
Gene: DHFR
Phenotype: Eyelid myoclonus (HP:0025097)
Associated disease: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY (OMIM:613839)
Gene: DHFR
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY (OMIM:613839)
Gene: DHFR
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY (OMIM:613839)
Gene: DHFR
Phenotype: Abnormal blood folate concentration (HP:0040087)
Associated disease: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY (OMIM:613839)
Gene: DHFR
Phenotype: Pallor (HP:0000980)
Associated disease: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY (OMIM:613839)
Gene: DHFR
Phenotype: Jaundice (HP:0000952)
Associated disease: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY (OMIM:613839)
Gene: DHFR
Phenotype: Absence seizure with eyelid myoclonia (HP:0011149)
Associated disease: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY (OMIM:613839)
Gene: DHFR
Phenotype: Delayed myelination (HP:0012448)
Associated disease: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY (OMIM:613839)
Gene: DHFR
Phenotype: Decreased CSF 5-methyltetrahydrofolate concentration (HP:0012446)
Associated disease: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY (OMIM:613839)
Gene: DHFR
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY (OMIM:613839)
Gene: DHFR
Phenotype: Megaloblastic anemia (HP:0001889)
Associated disease: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY (OMIM:613839)
Gene: DHFR
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY (OMIM:613839)
Gene: DHFR
Phenotype: Pancytopenia (HP:0001876)
Associated disease: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY (OMIM:613839)
Gene: DHODH
Phenotype: Syndactyly (HP:0001159)
Associated disease: POSTAXIAL ACROFACIAL DYSOSTOSIS (OMIM:263750)
Gene: DHODH
Phenotype: Microtia (HP:0008551)
Associated disease: Postaxial acrofacial dysostosis; Acrofacial dysostosis, Genee-Wiedemann type; Postaxial acrodysostosis; POADS; Mandibulofacial dysostosis with postaxial limb anomalies; Miller syndrome (ORPHA:246)
Gene: DHODH
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHODH
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHODH
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: POSTAXIAL ACROFACIAL DYSOSTOSIS (OMIM:263750)
Gene: DHODH
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: Postaxial acrofacial dysostosis; Acrofacial dysostosis, Genee-Wiedemann type; Postaxial acrodysostosis; POADS; Mandibulofacial dysostosis with postaxial limb anomalies; Miller syndrome (ORPHA:246)
Gene: DHODH
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Postaxial acrofacial dysostosis; Acrofacial dysostosis, Genee-Wiedemann type; Postaxial acrodysostosis; POADS; Mandibulofacial dysostosis with postaxial limb anomalies; Miller syndrome (ORPHA:246)
Gene: DHODH
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHODH
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: POSTAXIAL ACROFACIAL DYSOSTOSIS (OMIM:263750)
Gene: DHODH
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: POSTAXIAL ACROFACIAL DYSOSTOSIS (OMIM:263750)
Gene: DHODH
Phenotype: Micropenis (HP:0000054)
Associated disease: POSTAXIAL ACROFACIAL DYSOSTOSIS (OMIM:263750)
Gene: DHODH
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHODH
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: POSTAXIAL ACROFACIAL DYSOSTOSIS (OMIM:263750)
Gene: DHODH
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: POSTAXIAL ACROFACIAL DYSOSTOSIS (OMIM:263750)
Gene: DHODH
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Postaxial acrofacial dysostosis; Acrofacial dysostosis, Genee-Wiedemann type; Postaxial acrodysostosis; POADS; Mandibulofacial dysostosis with postaxial limb anomalies; Miller syndrome (ORPHA:246)
Gene: DHODH
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHODH
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: POSTAXIAL ACROFACIAL DYSOSTOSIS (OMIM:263750)
Gene: DHODH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHODH
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHODH
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHODH
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Cleft palate (HP:0000175)
Associated disease: POSTAXIAL ACROFACIAL DYSOSTOSIS (OMIM:263750)
Gene: DHODH
Phenotype: Cleft palate (HP:0000175)
Associated disease: Postaxial acrofacial dysostosis; Acrofacial dysostosis, Genee-Wiedemann type; Postaxial acrodysostosis; POADS; Mandibulofacial dysostosis with postaxial limb anomalies; Miller syndrome (ORPHA:246)
Gene: DHODH
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Ectropion of lower eyelids (HP:0007651)
Associated disease: Postaxial acrofacial dysostosis; Acrofacial dysostosis, Genee-Wiedemann type; Postaxial acrodysostosis; POADS; Mandibulofacial dysostosis with postaxial limb anomalies; Miller syndrome (ORPHA:246)
Gene: DHODH
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: POSTAXIAL ACROFACIAL DYSOSTOSIS (OMIM:263750)
Gene: DHODH
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHODH
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Postaxial acrofacial dysostosis; Acrofacial dysostosis, Genee-Wiedemann type; Postaxial acrodysostosis; POADS; Mandibulofacial dysostosis with postaxial limb anomalies; Miller syndrome (ORPHA:246)
Gene: DHODH
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHODH
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Short thumb (HP:0009778)
Associated disease: POSTAXIAL ACROFACIAL DYSOSTOSIS (OMIM:263750)
Gene: DHODH
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHODH
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHODH
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHODH
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHODH
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHODH
Phenotype: Eyelid coloboma (HP:0000625)
Associated disease: Postaxial acrofacial dysostosis; Acrofacial dysostosis, Genee-Wiedemann type; Postaxial acrodysostosis; POADS; Mandibulofacial dysostosis with postaxial limb anomalies; Miller syndrome (ORPHA:246)
Gene: DHODH
Phenotype: Eyelid coloboma (HP:0000625)
Associated disease: POSTAXIAL ACROFACIAL DYSOSTOSIS (OMIM:263750)
Gene: DHODH
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHODH
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Conical tooth (HP:0000698)
Associated disease: POSTAXIAL ACROFACIAL DYSOSTOSIS (OMIM:263750)
Gene: DHODH
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Ectropion (HP:0000656)
Associated disease: POSTAXIAL ACROFACIAL DYSOSTOSIS (OMIM:263750)
Gene: DHODH
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHODH
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Postaxial acrofacial dysostosis; Acrofacial dysostosis, Genee-Wiedemann type; Postaxial acrodysostosis; POADS; Mandibulofacial dysostosis with postaxial limb anomalies; Miller syndrome (ORPHA:246)
Gene: DHODH
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHODH
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHODH
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: POSTAXIAL ACROFACIAL DYSOSTOSIS (OMIM:263750)
Gene: DHODH
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: Postaxial acrofacial dysostosis; Acrofacial dysostosis, Genee-Wiedemann type; Postaxial acrodysostosis; POADS; Mandibulofacial dysostosis with postaxial limb anomalies; Miller syndrome (ORPHA:246)
Gene: DHODH
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: POSTAXIAL ACROFACIAL DYSOSTOSIS (OMIM:263750)
Gene: DHODH
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHODH
Phenotype: Non-midline cleft of the upper lip (HP:0100335)
Associated disease: Postaxial acrofacial dysostosis; Acrofacial dysostosis, Genee-Wiedemann type; Postaxial acrodysostosis; POADS; Mandibulofacial dysostosis with postaxial limb anomalies; Miller syndrome (ORPHA:246)
Gene: DHODH
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHODH
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHODH
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Malar flattening (HP:0000272)
Associated disease: POSTAXIAL ACROFACIAL DYSOSTOSIS (OMIM:263750)
Gene: DHODH
Phenotype: Malar flattening (HP:0000272)
Associated disease: Postaxial acrofacial dysostosis; Acrofacial dysostosis, Genee-Wiedemann type; Postaxial acrodysostosis; POADS; Mandibulofacial dysostosis with postaxial limb anomalies; Miller syndrome (ORPHA:246)
Gene: DHODH
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHODH
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHODH
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: POSTAXIAL ACROFACIAL DYSOSTOSIS (OMIM:263750)
Gene: DHODH
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Growth delay (HP:0001510)
Associated disease: POSTAXIAL ACROFACIAL DYSOSTOSIS (OMIM:263750)
Gene: DHODH
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHODH
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Cupped ear (HP:0000378)
Associated disease: POSTAXIAL ACROFACIAL DYSOSTOSIS (OMIM:263750)
Gene: DHODH
Phenotype: Cupped ear (HP:0000378)
Associated disease: Postaxial acrofacial dysostosis; Acrofacial dysostosis, Genee-Wiedemann type; Postaxial acrodysostosis; POADS; Mandibulofacial dysostosis with postaxial limb anomalies; Miller syndrome (ORPHA:246)
Gene: DHODH
Phenotype: Midgut malrotation (HP:0005211)
Associated disease: POSTAXIAL ACROFACIAL DYSOSTOSIS (OMIM:263750)
Gene: DHODH
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Supernumerary vertebrae (HP:0002946)
Associated disease: POSTAXIAL ACROFACIAL DYSOSTOSIS (OMIM:263750)
Gene: DHODH
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHODH
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Postaxial acrofacial dysostosis; Acrofacial dysostosis, Genee-Wiedemann type; Postaxial acrodysostosis; POADS; Mandibulofacial dysostosis with postaxial limb anomalies; Miller syndrome (ORPHA:246)
Gene: DHODH
Phenotype: Abnormality of the middle ear (HP:0000370)
Associated disease: Postaxial acrofacial dysostosis; Acrofacial dysostosis, Genee-Wiedemann type; Postaxial acrodysostosis; POADS; Mandibulofacial dysostosis with postaxial limb anomalies; Miller syndrome (ORPHA:246)
Gene: DHODH
Phenotype: Low-set ears (HP:0000369)
Associated disease: POSTAXIAL ACROFACIAL DYSOSTOSIS (OMIM:263750)
Gene: DHODH
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHODH
Phenotype: Micrognathia (HP:0000347)
Associated disease: POSTAXIAL ACROFACIAL DYSOSTOSIS (OMIM:263750)
Gene: DHODH
Phenotype: Micrognathia (HP:0000347)
Associated disease: Postaxial acrofacial dysostosis; Acrofacial dysostosis, Genee-Wiedemann type; Postaxial acrodysostosis; POADS; Mandibulofacial dysostosis with postaxial limb anomalies; Miller syndrome (ORPHA:246)
Gene: DHODH
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: POSTAXIAL ACROFACIAL DYSOSTOSIS (OMIM:263750)
Gene: DHODH
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: POSTAXIAL ACROFACIAL DYSOSTOSIS (OMIM:263750)
Gene: DHODH
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: Postaxial acrofacial dysostosis; Acrofacial dysostosis, Genee-Wiedemann type; Postaxial acrodysostosis; POADS; Mandibulofacial dysostosis with postaxial limb anomalies; Miller syndrome (ORPHA:246)
Gene: DHODH
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHODH
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHODH
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: POSTAXIAL ACROFACIAL DYSOSTOSIS (OMIM:263750)
Gene: DHODH
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Postaxial acrofacial dysostosis; Acrofacial dysostosis, Genee-Wiedemann type; Postaxial acrodysostosis; POADS; Mandibulofacial dysostosis with postaxial limb anomalies; Miller syndrome (ORPHA:246)
Gene: DHODH
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)