TaoMedAI/RareMedData huggingface dataset:
Gene: OTC
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: Ornithine carbamoyltransferase deficiency; OTC deficiency; OCT deficiency; Ornithine transcarbamylase deficiency (ORPHA:664)
Gene: OTC
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Ornithine carbamoyltransferase deficiency; OTC deficiency; OCT deficiency; Ornithine transcarbamylase deficiency (ORPHA:664)
Gene: CLDN11
Phenotype: Dysarthria (HP:0001260)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 22 (OMIM:619328)
Gene: CLDN11
Phenotype: Inability to walk (HP:0002540)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 22 (OMIM:619328)
Gene: CLDN11
Phenotype: Flexion contracture (HP:0001371)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 22 (OMIM:619328)
Gene: CLDN11
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 22 (OMIM:619328)
Gene: CLDN11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 22 (OMIM:619328)
Gene: CLDN11
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 22 (OMIM:619328)
Gene: CLDN11
Phenotype: Babinski sign (HP:0003487)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 22 (OMIM:619328)
Gene: CLDN11
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 22 (OMIM:619328)
Gene: CLDN11
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 22 (OMIM:619328)
Gene: CLDN11
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 22 (OMIM:619328)
Gene: CLDN11
Phenotype: Upper limb hypertonia (HP:0200049)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 22 (OMIM:619328)
Gene: CLDN11
Phenotype: Drooling (HP:0002307)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 22 (OMIM:619328)
Gene: CLDN11
Phenotype: Intellectual disability, borderline (HP:0006889)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 22 (OMIM:619328)
Gene: CLDN11
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 22 (OMIM:619328)
Gene: CLDN11
Phenotype: Nystagmus (HP:0000639)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 22 (OMIM:619328)
Gene: CLDN11
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 22 (OMIM:619328)
Gene: CLDN11
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 22 (OMIM:619328)
Gene: CLDN11
Phenotype: Astigmatism (HP:0000483)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 22 (OMIM:619328)
Gene: CLDN11
Phenotype: Strabismus (HP:0000486)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 22 (OMIM:619328)
Gene: CLDN11
Phenotype: Short neck (HP:0000470)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 22 (OMIM:619328)
Gene: CLDN11
Phenotype: Pes planus (HP:0001763)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 22 (OMIM:619328)
Gene: CLDN11
Phenotype: Hypermetropia (HP:0000540)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 22 (OMIM:619328)
Gene: CLDN11
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 22 (OMIM:619328)
Gene: OTX2
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OTX2
Phenotype: Mandibular aplasia (HP:0009939)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: OTX2
Phenotype: Cyclopia (HP:0009914)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: OTX2
Phenotype: Aplasia/Hypoplasia involving the nose (HP:0009924)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: OTX2
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: OTX2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OTX2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OTX2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MICROPHTHALMIA, SYNDROMIC 5 (OMIM:610125)
Gene: OTX2
Phenotype: Abnormal cranial nerve morphology (HP:0001291)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: OTX2
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: OTX2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: OTX2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
Phenotype: Seizure (HP:0001250)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
Phenotype: Seizure (HP:0001250)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: OTX2
Phenotype: Seizure (HP:0001250)
Associated disease: MICROPHTHALMIA, SYNDROMIC 5 (OMIM:610125)
Gene: OTX2
Phenotype: Seizure (HP:0001250)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 6 (OMIM:613986)
Gene: OTX2
Phenotype: Hypotonia (HP:0001252)
Associated disease: MICROPHTHALMIA, SYNDROMIC 5 (OMIM:610125)
Gene: OTX2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MICROPHTHALMIA, SYNDROMIC 5 (OMIM:610125)
Gene: OTX2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
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: OTX2
Phenotype: Septo-optic dysplasia (HP:0100842)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: OTX2
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: OTX2
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: OTX2
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: OTX2
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
Phenotype: Decreased thyroid-stimulating hormone level (HP:0031098)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 6 (OMIM:613986)
Gene: OTX2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OTX2
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: OTX2
Phenotype: Micropenis (HP:0000054)
Associated disease: MICROPHTHALMIA, SYNDROMIC 5 (OMIM:610125)
Gene: OTX2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MICROPHTHALMIA, SYNDROMIC 5 (OMIM:610125)
Gene: OTX2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OTX2
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: OTX2
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: OTX2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MICROPHTHALMIA, SYNDROMIC 5 (OMIM:610125)
Gene: OTX2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
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: OTX2
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OTX2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OTX2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OTX2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MICROPHTHALMIA, SYNDROMIC 5 (OMIM:610125)
Gene: OTX2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 6 (OMIM:613986)
Gene: OTX2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OTX2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OTX2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Hypotension (HP:0002615)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: OTX2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OTX2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: OTX2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
Phenotype: Cleft palate (HP:0000175)
Associated disease: MICROPHTHALMIA, SYNDROMIC 5 (OMIM:610125)
Gene: OTX2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Microglossia (HP:0000171)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: OTX2
Phenotype: Amenorrhea (HP:0000141)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: OTX2
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OTX2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OTX2
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: OTX2
Phenotype: Constipation (HP:0002019)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: OTX2
Phenotype: Constipation (HP:0002019)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
Phenotype: Esophageal atresia (HP:0002032)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
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: OTX2
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: OTX2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OTX2
Phenotype: Polydactyly (HP:0010442)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: OTX2
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: OTX2
Phenotype: Ectopic posterior pituitary (HP:0011755)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 6 (OMIM:613986)
Gene: OTX2
Phenotype: Ectopic posterior pituitary (HP:0011755)
Associated disease: MICROPHTHALMIA, SYNDROMIC 5 (OMIM:610125)
Gene: OTX2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Posterior pituitary hypoplasia (HP:0011757)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 6 (OMIM:613986)
Gene: OTX2
Phenotype: Absent nares (HP:0100596)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: OTX2
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: OTX2
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: OTX2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 6 (OMIM:613986)
Gene: OTX2
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: OTX2
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
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: OTX2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OTX2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Synotia (HP:0100663)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: OTX2
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: High hypermetropia (HP:0008499)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: OTX2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OTX2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 6 (OMIM:613986)
Gene: OTX2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OTX2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OTX2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OTX2
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: OTX2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OTX2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OTX2
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 6 (OMIM:613986)
Gene: OTX2
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: OTX2
Phenotype: Abnormal choroid morphology (HP:0000610)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: OTX2
Phenotype: Polydipsia (HP:0001959)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: MICROPHTHALMIA, SYNDROMIC 5 (OMIM:610125)
Gene: OTX2
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: OTX2
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OTX2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Narrow internal auditory canal (HP:0011386)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: OTX2
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: OTX2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OTX2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OTX2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 6 (OMIM:613986)
Gene: OTX2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Short stature (HP:0004322)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
Phenotype: Short stature (HP:0004322)
Associated disease: MICROPHTHALMIA, SYNDROMIC 5 (OMIM:610125)
Gene: OTX2
Phenotype: Short stature (HP:0004322)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 6 (OMIM:613986)
Gene: OTX2
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: OTX2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OTX2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OTX2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
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: OTX2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)