TaoMedAI/RareMedData huggingface dataset:
Gene: OPHN1
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: Disorganization of the anterior cerebellar vermis (HP:0007065)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: Caudate atrophy (HP:0002340)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: Temporal cortical atrophy (HP:0007112)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: Aplasia/Hypoplasia of the cerebellar vermis (HP:0006817)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: Nystagmus (HP:0000639)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: Retrocerebellar cyst (HP:0006951)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Retrocerebellar cyst (HP:0006951)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: Frontal cortical atrophy (HP:0006913)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Tall chin (HP:0400000)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Low frustration tolerance (HP:0000744)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Self-mutilation (HP:0000742)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: Long nose (HP:0003189)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Long face (HP:0000276)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Short philtrum (HP:0000322)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Partial absence of cerebellar vermis (HP:0002951)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: Macrotia (HP:0000400)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Strabismus (HP:0000486)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: Microphallus (HP:0030260)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Prominent nose (HP:0000448)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Prominent nose (HP:0000448)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: SIX6
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SIX6
Phenotype: Hypothalamic hamartoma (HP:0002444)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Hypotonia (HP:0001252)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Macular atrophy (HP:0007401)
Associated disease: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY (OMIM:212550)
Gene: SIX6
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Micropenis (HP:0000054)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Hypospadias (HP:0000047)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Specific learning disability (HP:0001328)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SIX6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY (OMIM:212550)
Gene: SIX6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SIX6
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SIX6
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SIX6
Phenotype: Esophageal atresia (HP:0002032)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Frontal bossing (HP:0002007)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Butterfly vertebrae (HP:0003316)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Congenital onset (HP:0003577)
Associated disease: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY (OMIM:212550)
Gene: SIX6
Phenotype: Vertebral hypoplasia (HP:0008417)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: High hypermetropia (HP:0008499)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: SIX6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SIX6
Phenotype: Nystagmus (HP:0000639)
Associated disease: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY (OMIM:212550)
Gene: SIX6
Phenotype: Sclerocornea (HP:0000647)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Miosis (HP:0000616)
Associated disease: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY (OMIM:212550)
Gene: SIX6
Phenotype: Iris coloboma (HP:0000612)
Associated disease: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY (OMIM:212550)
Gene: SIX6
Phenotype: Abnormal choroid morphology (HP:0000610)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: SIX6
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SIX6
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY (OMIM:212550)
Gene: SIX6
Phenotype: Short stature (HP:0004322)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SIX6
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SIX6
Phenotype: Missing ribs (HP:0000921)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Rib fusion (HP:0000902)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Supernumerary ribs (HP:0005815)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: SIX6
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SIX6
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SIX6
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Strabismus (HP:0000486)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: SIX6
Phenotype: Cataract (HP:0000518)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Cataract (HP:0000518)
Associated disease: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY (OMIM:212550)
Gene: SIX6
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SIX6
Phenotype: Anophthalmia (HP:0000528)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Glaucoma (HP:0000501)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: SIX6
Phenotype: Glaucoma (HP:0000501)
Associated disease: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY (OMIM:212550)
Gene: SIX6
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SIX6
Phenotype: Coloboma (HP:0000589)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Buphthalmos (HP:0000557)
Associated disease: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY (OMIM:212550)
Gene: SIX6
Phenotype: Corneal scarring (HP:0000559)
Associated disease: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY (OMIM:212550)
Gene: SIX6
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY (OMIM:212550)
Gene: SIX6
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: SIX6
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY (OMIM:212550)
Gene: SIX6
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY (OMIM:212550)
Gene: SIX6
Phenotype: Retinal detachment (HP:0000541)
Associated disease: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY (OMIM:212550)
Gene: SIX6
Phenotype: Optic nerve aplasia (HP:0012521)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SIX6
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SIX6
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ORC1
Phenotype: Mandibular aplasia (HP:0009939)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC1
Phenotype: Osteochondritis dissecans (HP:0010886)
Associated disease: MEIER-GORLIN SYNDROME 1 (OMIM:224690)
Gene: ORC1
Phenotype: Anotia (HP:0009892)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC1
Phenotype: Microtia (HP:0008551)
Associated disease: MEIER-GORLIN SYNDROME 1 (OMIM:224690)
Gene: ORC1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MEIER-GORLIN SYNDROME 1 (OMIM:224690)
Gene: ORC1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC1
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: MEIER-GORLIN SYNDROME 1 (OMIM:224690)
Gene: ORC1
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC1
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: MEIER-GORLIN SYNDROME 1 (OMIM:224690)
Gene: ORC1
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC1
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC1
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: MEIER-GORLIN SYNDROME 1 (OMIM:224690)
Gene: ORC1
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MEIER-GORLIN SYNDROME 1 (OMIM:224690)
Gene: ORC1
Phenotype: Epispadias (HP:0000039)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC1
Phenotype: Micropenis (HP:0000054)
Associated disease: MEIER-GORLIN SYNDROME 1 (OMIM:224690)
Gene: ORC1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MEIER-GORLIN SYNDROME 1 (OMIM:224690)
Gene: ORC1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC1
Phenotype: Hypospadias (HP:0000047)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC1
Phenotype: Shawl scrotum (HP:0000049)
Associated disease: MEIER-GORLIN SYNDROME 1 (OMIM:224690)
Gene: ORC1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MEIER-GORLIN SYNDROME 1 (OMIM:224690)
Gene: ORC1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MEIER-GORLIN SYNDROME 1 (OMIM:224690)
Gene: ORC1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC1
Phenotype: Coxa valga (HP:0002673)
Associated disease: MEIER-GORLIN SYNDROME 1 (OMIM:224690)
Gene: ORC1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MEIER-GORLIN SYNDROME 1 (OMIM:224690)
Gene: ORC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC1
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: MEIER-GORLIN SYNDROME 1 (OMIM:224690)
Gene: ORC1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: MEIER-GORLIN SYNDROME 1 (OMIM:224690)
Gene: ORC1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC1
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC1
Phenotype: Cleft palate (HP:0000175)
Associated disease: MEIER-GORLIN SYNDROME 1 (OMIM:224690)
Gene: ORC1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)