TaoMedAI/RareMedData huggingface dataset:
Gene: POR
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POR
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POR
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POR
Phenotype: Short metacarpal (HP:0010049)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POR
Phenotype: Long palm (HP:0011302)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Elbow ankylosis (HP:0003070)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POR
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POR
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: POR
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Ulnar deviation of the wrist (HP:0003049)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Humeroradial synostosis (HP:0003041)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Humeroradial synostosis (HP:0003041)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: POR
Phenotype: Humeroradial synostosis (HP:0003041)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Abnormality of the wrist (HP:0003019)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Caesarean section (HP:0011410)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Abnormal umbilical cord blood vessel morphology (HP:0011403)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Narrow chest (HP:0000774)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Narrow chest (HP:0000774)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: POR
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Lambdoidal craniosynostosis (HP:0004443)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: POR
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: POR
Phenotype: Short nose (HP:0003196)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Abnormality of skeletal maturation (HP:0000927)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Increased circulating ACTH level (HP:0003154)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Increased circulating ACTH level (HP:0003154)
Associated disease: DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY (OMIM:613571)
Gene: POR
Phenotype: Increased circulating ACTH level (HP:0003154)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POR
Phenotype: Hypoplastic scapulae (HP:0000882)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Abnormal external genitalia morphology (HP:0000811)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Hypertension (HP:0000822)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Hypertension (HP:0000822)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POR
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Proximal tibial and fibular fusion (HP:0005892)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POR
Phenotype: Narrow pelvis bone (HP:0003275)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: POR
Phenotype: Narrow pelvis bone (HP:0003275)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Maternal virilization in pregnancy (HP:0008072)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Maternal virilization in pregnancy (HP:0008072)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Low maternal circulating estriol concentration (HP:0008073)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: POR
Phenotype: Turricephaly (HP:0000262)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Macrocephaly (HP:0000256)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Malar flattening (HP:0000272)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Malar flattening (HP:0000272)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: POR
Phenotype: Radioulnar dislocation (HP:0006439)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: POR
Phenotype: Microcephaly (HP:0000252)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Vesicovaginal fistula (HP:0001586)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Brachycephaly (HP:0000248)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Brachycephaly (HP:0000248)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: POR
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: POR
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POR
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POR
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Small for gestational age (HP:0001518)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POR
Phenotype: Camptodactyly (HP:0012385)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Camptodactyly (HP:0012385)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Camptodactyly (HP:0012385)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: POR
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: POR
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Hyponatremia (HP:0002902)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Abnormal earlobe morphology (HP:0000363)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POR
Phenotype: Low-set ears (HP:0000369)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Low-set ears (HP:0000369)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Long philtrum (HP:0000343)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: POR
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POR
Phenotype: Femoral bowing (HP:0002980)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Femoral bowing (HP:0002980)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Femoral bowing (HP:0002980)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: POR
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Breech presentation (HP:0001623)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: POR
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POR
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: POR
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)