TaoMedAI/RareMedData huggingface dataset:
Gene: POR
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: POR
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Broad foot (HP:0001769)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Choanal atresia (HP:0000453)
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: Choanal atresia (HP:0000453)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: POR
Phenotype: Choanal atresia (HP:0000453)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Choanal stenosis (HP:0000452)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Choanal stenosis (HP:0000452)
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: Choanal stenosis (HP:0000452)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: POR
Phenotype: Wide nose (HP:0000445)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Bulbous nose (HP:0000414)
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 foot morphology (HP:0001760)
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: Talipes equinovarus (HP:0001762)
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: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POR
Phenotype: Proptosis (HP:0000520)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Proptosis (HP:0000520)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: POR
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Rocker bottom foot (HP:0001838)
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: Rocker bottom foot (HP:0001838)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: POR
Phenotype: Decreased circulating androgen concentration (HP:0030349)
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: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Talipes (HP:0001883)
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: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POU1F1
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Abnormality of secondary sexual hair (HP:0009888)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POU1F1
Phenotype: Decreased circulating free T3 (HP:0032210)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POU1F1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Lethargy (HP:0001254)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Seizure (HP:0001250)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Hypotonia (HP:0001252)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Septo-optic dysplasia (HP:0100842)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Impaired growth-hormone response to insulin stimulation test (HP:0031079)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Decreased thyroid-stimulating hormone level (HP:0031098)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Decreased thyroid-stimulating hormone level (HP:0031098)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POU1F1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POU1F1
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Delayed proximal femoral epiphyseal ossification (HP:0008828)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POU1F1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POU1F1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POU1F1
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Hypotension (HP:0002615)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POU1F1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Abnormal circulating thyroglobulin concentration (HP:0025483)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Macroglossia (HP:0000158)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Macroglossia (HP:0000158)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Amenorrhea (HP:0000141)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Inappropriate antidiuretic hormone secretion (HP:0031218)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Reduced radioactive iodine uptake (HP:0031219)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Constipation (HP:0002019)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Constipation (HP:0002019)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Thyroid hypoplasia (HP:0005990)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Decreased cervical spine mobility (HP:0004637)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Decreased cervical spine mobility (HP:0004637)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Hypothermia (HP:0002045)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POU1F1
Phenotype: Polydactyly (HP:0010442)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Ectopic posterior pituitary (HP:0011755)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Ectopic posterior pituitary (HP:0011755)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Absence of secondary sex characteristics (HP:0008187)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Pituitary hypothyroidism (HP:0008245)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Pituitary hypothyroidism (HP:0008245)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Reduced circulating prolactin concentration (HP:0008202)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Reduced circulating prolactin concentration (HP:0008202)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Infantile onset (HP:0003593)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Anterior pituitary agenesis (HP:0010626)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POU1F1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Pretibial myxedema (HP:0200028)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POU1F1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POU1F1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POU1F1
Phenotype: Median cleft palate (HP:0009099)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POU1F1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POU1F1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POU1F1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POU1F1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Short stature (HP:0004322)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Osteoporosis of vertebrae (HP:0005625)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POU1F1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POU1F1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Ectopic anterior pituitary gland (HP:0012731)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)