TaoMedAI/RareMedData huggingface dataset:
Gene: PIGQ
Phenotype: Floppy infant (HP:0008947)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Floppy infant (HP:0008947)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Poor suck (HP:0002033)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Dysphagia (HP:0002015)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Episodic ataxia (HP:0002131)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Vertical nystagmus (HP:0010544)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Developmental regression (HP:0002376)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: EEG abnormality (HP:0002353)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Diffuse white matter abnormalities (HP:0007204)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Dyskinesia (HP:0100660)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Atonic seizure (HP:0010819)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Abdominal wall muscle weakness (HP:0009023)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Renal cortical cysts (HP:0000803)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Hyperactivity (HP:0000752)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Autistic behavior (HP:0000729)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Broad phalanx of the toes (HP:0010174)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Precocious puberty (HP:0000826)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Hooded upper eyelid (HP:0030822)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Soft skin (HP:0000977)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Short finger (HP:0009381)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Coarse facial features (HP:0000280)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Full cheeks (HP:0000293)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Microcephaly (HP:0000252)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Diastasis recti (HP:0001540)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Failure to thrive (HP:0001508)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Broad finger (HP:0001500)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Sloping forehead (HP:0000340)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Long philtrum (HP:0000343)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Micrognathia (HP:0000347)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Uni- and bilateral multifocal epileptiform discharges (HP:0011190)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Generalized clonic seizure (HP:0011169)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Astigmatism (HP:0000483)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Strabismus (HP:0000486)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Infantile spasms (HP:0012469)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Anteverted nares (HP:0000463)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Delayed myelination (HP:0012448)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Alacrima (HP:0000522)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Telecanthus (HP:0000506)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Ptosis (HP:0000508)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Absent thumbnail (HP:0012554)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Deep plantar creases (HP:0001869)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: UNC119
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: UNC119
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: UNC119
Phenotype: Recurrent shingles (HP:0032275)
Associated disease: IMMUNODEFICIENCY 13 (OMIM:615518)
Gene: UNC119
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: IMMUNODEFICIENCY 13 (OMIM:615518)
Gene: UNC119
Phenotype: Macular atrophy (HP:0007401)
Associated disease: CONE-ROD DYSTROPHY 24 (OMIM:620342)
Gene: UNC119
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: IMMUNODEFICIENCY 13 (OMIM:615518)
Gene: UNC119
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: UNC119
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: UNC119
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONE-ROD DYSTROPHY 24 (OMIM:620342)
Gene: UNC119
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IMMUNODEFICIENCY 13 (OMIM:615518)
Gene: UNC119
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: UNC119
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: UNC119
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CONE-ROD DYSTROPHY 24 (OMIM:620342)
Gene: UNC119
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: UNC119
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: IMMUNODEFICIENCY 13 (OMIM:615518)
Gene: UNC119
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 13 (OMIM:615518)
Gene: UNC119
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: IMMUNODEFICIENCY 13 (OMIM:615518)
Gene: UNC119
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY 13 (OMIM:615518)
Gene: UNC119
Phenotype: Inverted CD4:CD8 ratio (HP:0033222)
Associated disease: IMMUNODEFICIENCY 13 (OMIM:615518)
Gene: UNC119
Phenotype: Middle age onset (HP:0003596)
Associated disease: CONE-ROD DYSTROPHY 24 (OMIM:620342)
Gene: UNC119
Phenotype: Bronchiolitis obliterans organizing pneumonia (HP:0011945)
Associated disease: IMMUNODEFICIENCY 13 (OMIM:615518)
Gene: UNC119
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: UNC119
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: UNC119
Phenotype: Photophobia (HP:0000613)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: UNC119
Phenotype: Photophobia (HP:0000613)
Associated disease: CONE-ROD DYSTROPHY 24 (OMIM:620342)
Gene: UNC119
Phenotype: Macular degeneration (HP:0000608)
Associated disease: CONE-ROD DYSTROPHY 24 (OMIM:620342)
Gene: UNC119
Phenotype: Central scotoma (HP:0000603)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: UNC119
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: UNC119
Phenotype: Macular drusen (HP:0030499)
Associated disease: CONE-ROD DYSTROPHY 24 (OMIM:620342)
Gene: UNC119
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: UNC119
Phenotype: Nyctalopia (HP:0000662)
Associated disease: CONE-ROD DYSTROPHY 24 (OMIM:620342)
Gene: UNC119
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: UNC119
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: UNC119
Phenotype: Childhood onset (HP:0011463)
Associated disease: CONE-ROD DYSTROPHY 24 (OMIM:620342)
Gene: UNC119
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: UNC119
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: UNC119
Phenotype: Pericentral scotoma (HP:0007761)
Associated disease: CONE-ROD DYSTROPHY 24 (OMIM:620342)
Gene: UNC119
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: UNC119
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: UNC119
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: UNC119
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: CONE-ROD DYSTROPHY 24 (OMIM:620342)
Gene: UNC119
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: UNC119
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: IMMUNODEFICIENCY 13 (OMIM:615518)
Gene: UNC119
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: IMMUNODEFICIENCY 13 (OMIM:615518)
Gene: UNC119
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: IMMUNODEFICIENCY 13 (OMIM:615518)
Gene: UNC119
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: IMMUNODEFICIENCY 13 (OMIM:615518)
Gene: UNC119
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: UNC119
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: UNC119
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: UNC119
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: UNC119
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: CONE-ROD DYSTROPHY 24 (OMIM:620342)
Gene: UNC119
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: UNC119
Phenotype: Scotoma (HP:0000575)
Associated disease: CONE-ROD DYSTROPHY 24 (OMIM:620342)
Gene: UNC119
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: IMMUNODEFICIENCY 13 (OMIM:615518)
Gene: UNC119
Phenotype: Color vision defect (HP:0000551)
Associated disease: CONE-ROD DYSTROPHY 24 (OMIM:620342)
Gene: UNC119
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: UNC119
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: CONE-ROD DYSTROPHY 24 (OMIM:620342)
Gene: UNC119
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: UNC119
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: UNC119
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: UNC119
Phenotype: Myopia (HP:0000545)
Associated disease: CONE-ROD DYSTROPHY 24 (OMIM:620342)
Gene: TBX19
Phenotype: Seizure (HP:0001250)
Associated disease: ACTH DEFICIENCY, ISOLATED (OMIM:201400)
Gene: TBX19
Phenotype: Cholestasis (HP:0001396)
Associated disease: ACTH DEFICIENCY, ISOLATED (OMIM:201400)
Gene: TBX19
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ACTH DEFICIENCY, ISOLATED (OMIM:201400)
Gene: TBX19
Phenotype: Hypotension (HP:0002615)
Associated disease: Congenital isolated ACTH deficiency (ORPHA:199296)
Gene: TBX19
Phenotype: Hepatitis (HP:0012115)
Associated disease: Congenital isolated ACTH deficiency (ORPHA:199296)
Gene: TBX19
Phenotype: Adrenocorticotropic hormone deficiency (HP:0011748)
Associated disease: ACTH DEFICIENCY, ISOLATED (OMIM:201400)
Gene: TBX19
Phenotype: Adrenocorticotropin deficient adrenal insufficiency (HP:0011735)
Associated disease: Congenital isolated ACTH deficiency (ORPHA:199296)
Gene: TBX19
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: Congenital isolated ACTH deficiency (ORPHA:199296)
Gene: TBX19
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: ACTH DEFICIENCY, ISOLATED (OMIM:201400)
Gene: TBX19
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: Congenital isolated ACTH deficiency (ORPHA:199296)
Gene: TBX19
Phenotype: Hypoglycemic seizures (HP:0002173)
Associated disease: Congenital isolated ACTH deficiency (ORPHA:199296)
Gene: TBX19
Phenotype: Infantile onset (HP:0003593)
Associated disease: ACTH DEFICIENCY, ISOLATED (OMIM:201400)
Gene: TBX19
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: Congenital isolated ACTH deficiency (ORPHA:199296)
Gene: TBX19
Phenotype: Fasting hypoglycemia (HP:0003162)
Associated disease: ACTH DEFICIENCY, ISOLATED (OMIM:201400)
Gene: TBX19
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: Congenital isolated ACTH deficiency (ORPHA:199296)
Gene: TBX19
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: ACTH DEFICIENCY, ISOLATED (OMIM:201400)
Gene: TBX19
Phenotype: Jaundice (HP:0000952)
Associated disease: ACTH DEFICIENCY, ISOLATED (OMIM:201400)
Gene: TBX19
Phenotype: Fatigue (HP:0012378)
Associated disease: Congenital isolated ACTH deficiency (ORPHA:199296)
Gene: TBX19
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: Congenital isolated ACTH deficiency (ORPHA:199296)
Gene: TBX19
Phenotype: Hyponatremia (HP:0002902)
Associated disease: Congenital isolated ACTH deficiency (ORPHA:199296)
Gene: TBX18
Phenotype: Congenital megaureter (HP:0008676)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 (OMIM:143400)
Gene: TBX18
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 (OMIM:143400)
Gene: TBX18
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 (OMIM:143400)
Gene: TBX18
Phenotype: Hydroureter (HP:0000072)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 (OMIM:143400)
Gene: TBX18
Phenotype: Ureteropelvic junction obstruction (HP:0000074)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 (OMIM:143400)
Gene: TBX18
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 (OMIM:143400)
Gene: TBX18
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 (OMIM:143400)
Gene: TBX18
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 (OMIM:143400)
Gene: TBX18
Phenotype: Back pain (HP:0003418)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 (OMIM:143400)
Gene: TBX18
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 (OMIM:143400)