TaoMedAI/RareMedData huggingface dataset:
Gene: MED17
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
Gene: MED27
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: MED27
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: MED27
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: MED27
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: MED27
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: MED27
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: MED27
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: MED27
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: MED27
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: MED27
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: MED27
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: MED27
Phenotype: Urinary urgency (HP:0000012)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: MED27
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: MED27
Phenotype: Frontal bossing (HP:0002007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: MED27
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: MED27
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: MED27
Phenotype: Sleep apnea (HP:0010535)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: MED27
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: MED27
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: MED27
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: MED27
Phenotype: Developmental regression (HP:0002376)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: MED27
Phenotype: Drooling (HP:0002307)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: MED27
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: MED27
Phenotype: Synophrys (HP:0000664)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: MED27
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: MED27
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: MED27
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: MED27
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: MED27
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: MED27
Phenotype: Anteverted nares (HP:0000463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: MED27
Phenotype: Cataract (HP:0000518)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: MED27
Phenotype: Long eyelashes (HP:0000527)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: MED27
Phenotype: Blue sclerae (HP:0000592)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Gene: ITM2B
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ITM2B
Phenotype: Posterior polar cataract (HP:0001115)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2 (OMIM:117300)
Gene: ITM2B
Phenotype: Hypertonia (HP:0001276)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 (OMIM:176500)
Gene: ITM2B
Phenotype: Ataxia (HP:0001251)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2 (OMIM:117300)
Gene: ITM2B
Phenotype: Spasticity (HP:0001257)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2 (OMIM:117300)
Gene: ITM2B
Phenotype: Spasticity (HP:0001257)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 (OMIM:176500)
Gene: ITM2B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ITM2B
Phenotype: Tremor (HP:0001337)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 (OMIM:176500)
Gene: ITM2B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ITM2B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES (OMIM:616079)
Gene: ITM2B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2 (OMIM:117300)
Gene: ITM2B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 (OMIM:176500)
Gene: ITM2B
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ITM2B
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ITM2B
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES (OMIM:616079)
Gene: ITM2B
Phenotype: Intention tremor (HP:0002080)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2 (OMIM:117300)
Gene: ITM2B
Phenotype: Rigidity (HP:0002063)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 (OMIM:176500)
Gene: ITM2B
Phenotype: Neurofibrillary tangles (HP:0002185)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2 (OMIM:117300)
Gene: ITM2B
Phenotype: Middle age onset (HP:0003596)
Associated disease: RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES (OMIM:616079)
Gene: ITM2B
Phenotype: Cerebral amyloid angiopathy (HP:0011970)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 (OMIM:176500)
Gene: ITM2B
Phenotype: Cerebral amyloid angiopathy (HP:0011970)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2 (OMIM:117300)
Gene: ITM2B
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 (OMIM:176500)
Gene: ITM2B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ITM2B
Phenotype: Photophobia (HP:0000613)
Associated disease: RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES (OMIM:616079)
Gene: ITM2B
Phenotype: Central scotoma (HP:0000603)
Associated disease: RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES (OMIM:616079)
Gene: ITM2B
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES (OMIM:616079)
Gene: ITM2B
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ITM2B
Phenotype: Dementia (HP:0000726)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2 (OMIM:117300)
Gene: ITM2B
Phenotype: Dementia (HP:0000726)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 (OMIM:176500)
Gene: ITM2B
Phenotype: Psychosis (HP:0000709)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2 (OMIM:117300)
Gene: ITM2B
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ITM2B
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ITM2B
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES (OMIM:616079)
Gene: ITM2B
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ITM2B
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ITM2B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2 (OMIM:117300)
Gene: ITM2B
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ITM2B
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ITM2B
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES (OMIM:616079)
Gene: ITM2B
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES (OMIM:616079)
Gene: ITM2B
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ITM2B
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EIF2AK3
Phenotype: Hepatic encephalopathy (HP:0002480)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF2AK3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF2AK3
Phenotype: Hypertonia (HP:0001276)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Increased total lymphocyte count (HP:0100827)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Seizure (HP:0001250)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Shortening of all middle phalanges of the fingers (HP:0006110)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF2AK3
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF2AK3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF2AK3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Multiple epiphyseal dysplasia (HP:0002654)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Multiple epiphyseal dysplasia (HP:0002654)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Coxa valga (HP:0002673)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF2AK3
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF2AK3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF2AK3
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Carpal bone hypoplasia (HP:0001498)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Reduced pancreatic beta cells (HP:0006274)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF2AK3
Phenotype: Irregular tarsal ossification (HP:0008134)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Small epiphyses (HP:0010585)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Infantile onset (HP:0003593)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF2AK3
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF2AK3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF2AK3
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF2AK3
Phenotype: Irregular carpal bones (HP:0004236)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF2AK3
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF2AK3
Phenotype: Dehydration (HP:0001944)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Fever (HP:0001945)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF2AK3
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Ketoacidosis (HP:0001993)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF2AK3
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Decreased body weight (HP:0004325)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Short stature (HP:0004322)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Short stature (HP:0004322)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Flattened epiphysis (HP:0003071)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF2AK3
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF2AK3
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)