TaoMedAI/RareMedData huggingface dataset:
Gene: UBAP2L
Phenotype: Short toe (HP:0001831)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Exotropia (HP:0000577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Esotropia (HP:0000565)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Hypermetropia (HP:0000540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Myopia (HP:0000545)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: SV2A
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113 (OMIM:620772)
Gene: SV2A
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113 (OMIM:620772)
Gene: SV2A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113 (OMIM:620772)
Gene: SV2A
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113 (OMIM:620772)
Gene: SV2A
Phenotype: Interictal EEG abnormality (HP:0025373)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113 (OMIM:620772)
Gene: SV2A
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113 (OMIM:620772)
Gene: SV2A
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113 (OMIM:620772)
Gene: SV2A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113 (OMIM:620772)
Gene: SV2A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113 (OMIM:620772)
Gene: SV2A
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113 (OMIM:620772)
Gene: SV2A
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113 (OMIM:620772)
Gene: SV2A
Phenotype: Opisthotonus (HP:0002179)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113 (OMIM:620772)
Gene: SV2A
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113 (OMIM:620772)
Gene: SV2A
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113 (OMIM:620772)
Gene: SV2A
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113 (OMIM:620772)
Gene: SV2A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113 (OMIM:620772)
Gene: SV2A
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113 (OMIM:620772)
Gene: SV2A
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113 (OMIM:620772)
Gene: SV2A
Phenotype: Reduced brain N-acetyl aspartate level by MRS (HP:0012708)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113 (OMIM:620772)
Gene: SV2A
Phenotype: Ankle clonus (HP:0011448)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113 (OMIM:620772)
Gene: SV2A
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113 (OMIM:620772)
Gene: SV2A
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113 (OMIM:620772)
Gene: SV2A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113 (OMIM:620772)
Gene: SV2A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113 (OMIM:620772)
Gene: SV2A
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113 (OMIM:620772)
Gene: SV2A
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113 (OMIM:620772)
Gene: AP5Z1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
Gene: AP5Z1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
Gene: AP5Z1
Phenotype: Ataxia (HP:0001251)
Associated disease: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
Gene: AP5Z1
Phenotype: Ataxia (HP:0001251)
Associated disease: SPG48; Autosomal recessive spastic paraplegia type 48 (ORPHA:306511)
Gene: AP5Z1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPG48; Autosomal recessive spastic paraplegia type 48 (ORPHA:306511)
Gene: AP5Z1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
Gene: AP5Z1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
Gene: AP5Z1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
Gene: AP5Z1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
Gene: AP5Z1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPG48; Autosomal recessive spastic paraplegia type 48 (ORPHA:306511)
Gene: AP5Z1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
Gene: AP5Z1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPG48; Autosomal recessive spastic paraplegia type 48 (ORPHA:306511)
Gene: AP5Z1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPG48; Autosomal recessive spastic paraplegia type 48 (ORPHA:306511)
Gene: AP5Z1
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
Gene: AP5Z1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
Gene: AP5Z1
Phenotype: Myoclonus (HP:0001336)
Associated disease: SPG48; Autosomal recessive spastic paraplegia type 48 (ORPHA:306511)
Gene: AP5Z1
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
Gene: AP5Z1
Phenotype: Parkinsonism (HP:0001300)
Associated disease: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
Gene: AP5Z1
Phenotype: Parkinsonism (HP:0001300)
Associated disease: SPG48; Autosomal recessive spastic paraplegia type 48 (ORPHA:306511)
Gene: AP5Z1
Phenotype: Abnormality of the cervical spine (HP:0003319)
Associated disease: SPG48; Autosomal recessive spastic paraplegia type 48 (ORPHA:306511)
Gene: AP5Z1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SPG48; Autosomal recessive spastic paraplegia type 48 (ORPHA:306511)
Gene: AP5Z1
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
Gene: AP5Z1
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPG48; Autosomal recessive spastic paraplegia type 48 (ORPHA:306511)
Gene: AP5Z1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
Gene: AP5Z1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPG48; Autosomal recessive spastic paraplegia type 48 (ORPHA:306511)
Gene: AP5Z1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
Gene: AP5Z1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SPG48; Autosomal recessive spastic paraplegia type 48 (ORPHA:306511)
Gene: AP5Z1
Phenotype: Broad-based gait (HP:0002136)
Associated disease: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
Gene: AP5Z1
Phenotype: Broad-based gait (HP:0002136)
Associated disease: SPG48; Autosomal recessive spastic paraplegia type 48 (ORPHA:306511)
Gene: AP5Z1
Phenotype: Middle age onset (HP:0003596)
Associated disease: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
Gene: AP5Z1
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
Gene: AP5Z1
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease: SPG48; Autosomal recessive spastic paraplegia type 48 (ORPHA:306511)
Gene: AP5Z1
Phenotype: Progressive (HP:0003676)
Associated disease: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
Gene: AP5Z1
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
Gene: AP5Z1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
Gene: AP5Z1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: SPG48; Autosomal recessive spastic paraplegia type 48 (ORPHA:306511)
Gene: AP5Z1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: SPG48; Autosomal recessive spastic paraplegia type 48 (ORPHA:306511)
Gene: AP5Z1
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: SPG48; Autosomal recessive spastic paraplegia type 48 (ORPHA:306511)
Gene: AP5Z1
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
Gene: AP5Z1
Phenotype: Periventricular white matter hyperintensities (HP:0030891)
Associated disease: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
Gene: AP5Z1
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: SPG48; Autosomal recessive spastic paraplegia type 48 (ORPHA:306511)
Gene: AP5Z1
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
Gene: AP5Z1
Phenotype: Retinopathy (HP:0000488)
Associated disease: SPG48; Autosomal recessive spastic paraplegia type 48 (ORPHA:306511)
Gene: AP5Z1
Phenotype: Retinopathy (HP:0000488)
Associated disease: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
Gene: ARNT2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Seizure (HP:0001250)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Spasticity (HP:0001257)
Associated disease: WEBB-DATTANI SYNDROME (OMIM:615926)
Gene: ARNT2
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Septo-optic dysplasia (HP:0100842)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: WEBB-DATTANI SYNDROME (OMIM:615926)
Gene: ARNT2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: WEBB-DATTANI SYNDROME (OMIM:615926)
Gene: ARNT2
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: WEBB-DATTANI SYNDROME (OMIM:615926)
Gene: ARNT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: WEBB-DATTANI SYNDROME (OMIM:615926)
Gene: ARNT2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: WEBB-DATTANI SYNDROME (OMIM:615926)
Gene: ARNT2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: WEBB-DATTANI SYNDROME (OMIM:615926)
Gene: ARNT2
Phenotype: Constipation (HP:0002019)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Esophageal atresia (HP:0002032)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Deep philtrum (HP:0002002)
Associated disease: WEBB-DATTANI SYNDROME (OMIM:615926)
Gene: ARNT2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: WEBB-DATTANI SYNDROME (OMIM:615926)
Gene: ARNT2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: WEBB-DATTANI SYNDROME (OMIM:615926)
Gene: ARNT2
Phenotype: Adrenocorticotropic hormone deficiency (HP:0011748)
Associated disease: WEBB-DATTANI SYNDROME (OMIM:615926)
Gene: ARNT2
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: WEBB-DATTANI SYNDROME (OMIM:615926)
Gene: ARNT2
Phenotype: Pituitary hypothyroidism (HP:0008245)
Associated disease: WEBB-DATTANI SYNDROME (OMIM:615926)
Gene: ARNT2
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: WEBB-DATTANI SYNDROME (OMIM:615926)
Gene: ARNT2
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: WEBB-DATTANI SYNDROME (OMIM:615926)
Gene: ARNT2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Blindness (HP:0000618)
Associated disease: WEBB-DATTANI SYNDROME (OMIM:615926)
Gene: ARNT2
Phenotype: Polydipsia (HP:0001959)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: WEBB-DATTANI SYNDROME (OMIM:615926)
Gene: ARNT2
Phenotype: Short stature (HP:0004322)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Short stature (HP:0004322)
Associated disease: WEBB-DATTANI SYNDROME (OMIM:615926)
Gene: ARNT2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Autism (HP:0000717)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Hyposthenuria (HP:0003158)
Associated disease: WEBB-DATTANI SYNDROME (OMIM:615926)
Gene: ARNT2
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: WEBB-DATTANI SYNDROME (OMIM:615926)
Gene: ARNT2
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: WEBB-DATTANI SYNDROME (OMIM:615926)
Gene: ARNT2
Phenotype: Hypernatremia (HP:0003228)
Associated disease: WEBB-DATTANI SYNDROME (OMIM:615926)
Gene: ARNT2
Phenotype: Dry skin (HP:0000958)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Retrognathia (HP:0000278)
Associated disease: WEBB-DATTANI SYNDROME (OMIM:615926)
Gene: ARNT2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: WEBB-DATTANI SYNDROME (OMIM:615926)
Gene: ARNT2
Phenotype: Obesity (HP:0001513)
Associated disease: WEBB-DATTANI SYNDROME (OMIM:615926)
Gene: ARNT2
Phenotype: Obesity (HP:0001513)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Fatigue (HP:0012378)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Strabismus (HP:0000486)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: WEBB-DATTANI SYNDROME (OMIM:615926)
Gene: ARNT2
Phenotype: Anosmia (HP:0000458)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: WEBB-DATTANI SYNDROME (OMIM:615926)
Gene: ARNT2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: ARNT2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: WEBB-DATTANI SYNDROME (OMIM:615926)
Gene: FAM20B
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20B
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20B
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20B
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20B
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20B
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20B
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20B
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20B
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20B
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20B
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20B
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20B
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20B
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20B
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20B
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20B
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)