TaoMedAI/RareMedData huggingface dataset:
Gene: DHCR7
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Micrognathia (HP:0000347)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Micrognathia (HP:0000347)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Micromelia (HP:0002983)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Hypertelorism (HP:0000316)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Breech presentation (HP:0001623)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Premature birth (HP:0001622)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Microretrognathia (HP:0000308)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Strabismus (HP:0000486)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Strabismus (HP:0000486)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Anteverted nares (HP:0000463)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Anteverted nares (HP:0000463)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Short neck (HP:0000470)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Hammertoe (HP:0001765)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Choanal atresia (HP:0000453)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Splenomegaly (HP:0001744)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Cataract (HP:0000518)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Cataract (HP:0000518)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Overlapping toe (HP:0001845)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Proptosis (HP:0000520)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Ptosis (HP:0000508)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Ptosis (HP:0000508)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Glaucoma (HP:0000501)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Short toe (HP:0001831)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Talipes calcaneovalgus (HP:0001884)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Talipes calcaneovalgus (HP:0001884)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR24
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHCR24
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHCR24
Phenotype: Hypertonia (HP:0001276)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Seizure (HP:0001250)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Seizure (HP:0001250)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Spasticity (HP:0001257)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Spasticity (HP:0001257)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Elevated circulating desmosterol concentration (HP:0034937)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Abnormal cortical gyration (HP:0002536)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHCR24
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Ambiguous genitalia, female (HP:0000061)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Ambiguous genitalia, male (HP:0000033)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHCR24
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHCR24
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Lissencephaly (HP:0001339)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHCR24
Phenotype: Pachygyria (HP:0001302)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHCR24
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHCR24
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Rhizomelia (HP:0008905)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Cleft palate (HP:0000175)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Gingival fibromatosis (HP:0000169)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Frontal bossing (HP:0002007)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Rigidity (HP:0002063)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHCR24
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Large earlobe (HP:0009748)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Severe short stature (HP:0003510)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHCR24
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHCR24
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHCR24
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHCR24
Phenotype: Alveolar ridge overgrowth (HP:0009085)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Nystagmus (HP:0000639)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Nystagmus (HP:0000639)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHCR24
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHCR24
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHCR24
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHCR24
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Short stature (HP:0004322)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHCR24
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHCR24
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Short ribs (HP:0000773)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Abnormal circulating cholesterol concentration (HP:0003107)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Short nose (HP:0003196)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Short nose (HP:0003196)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHCR24
Phenotype: Generalized osteosclerosis (HP:0005789)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHCR24
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHCR24
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Epicanthus (HP:0000286)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Retrognathia (HP:0000278)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Macrocephaly (HP:0000256)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Microcephaly (HP:0000252)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHCR24
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHCR24
Phenotype: Failure to thrive (HP:0001508)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Growth delay (HP:0001510)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHCR24
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Cupped ear (HP:0000378)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Total anomalous pulmonary venous return (HP:0005160)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Abnormal earlobe morphology (HP:0000363)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHCR24
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Abnormality of the nose (HP:0000366)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Low-set ears (HP:0000369)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Low-set ears (HP:0000369)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Narrow forehead (HP:0000341)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DHCR24
Phenotype: Osteopetrosis (HP:0011002)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: DESMOSTEROLOSIS (OMIM:602398)
Gene: DHCR24
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Desmosterolosis (ORPHA:35107)
Gene: DHCR24
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)