TaoMedAI/RareMedData huggingface dataset:
Gene: TRAF3IP1
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: TRAF3IP1
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: TRAF3IP1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAF3IP1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAF3IP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRAF3IP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAF3IP1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAF3IP1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Tubulointerstitial nephritis (HP:0001970)
Associated disease: SENIOR-LOKEN SYNDROME 9 (OMIM:616629)
Gene: TRAF3IP1
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: TRAF3IP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: SENIOR-LOKEN SYNDROME 9 (OMIM:616629)
Gene: TRAF3IP1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAF3IP1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAF3IP1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Macular degeneration (HP:0000608)
Associated disease: SENIOR-LOKEN SYNDROME 9 (OMIM:616629)
Gene: TRAF3IP1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAF3IP1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRAF3IP1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAF3IP1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Short stature (HP:0004322)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: TRAF3IP1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAF3IP1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAF3IP1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Abnormality of bone mineral density (HP:0004348)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: TRAF3IP1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRAF3IP1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRAF3IP1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAF3IP1
Phenotype: Chronic bronchitis (HP:0004469)
Associated disease: SENIOR-LOKEN SYNDROME 9 (OMIM:616629)
Gene: TRAF3IP1
Phenotype: Hypertension (HP:0000822)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: TRAF3IP1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAF3IP1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAF3IP1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Osteopenia (HP:0000938)
Associated disease: SENIOR-LOKEN SYNDROME 9 (OMIM:616629)
Gene: TRAF3IP1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: TRAF3IP1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRAF3IP1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAF3IP1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAF3IP1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Obesity (HP:0001513)
Associated disease: SENIOR-LOKEN SYNDROME 9 (OMIM:616629)
Gene: TRAF3IP1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRAF3IP1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAF3IP1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAF3IP1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAF3IP1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAF3IP1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Strabismus (HP:0000486)
Associated disease: SENIOR-LOKEN SYNDROME 9 (OMIM:616629)
Gene: TRAF3IP1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Cataract (HP:0000518)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: TRAF3IP1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRAF3IP1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: SENIOR-LOKEN SYNDROME 9 (OMIM:616629)
Gene: TRAF3IP1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: TRAF3IP1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAF3IP1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: TRAF3IP1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRAF3IP1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: SENIOR-LOKEN SYNDROME 9 (OMIM:616629)
Gene: TRAF3IP1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: TRAF3IP1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAF3IP1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRAF3IP1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIF26A
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Gene: KIF26A
Phenotype: Absence of stomach bubble on fetal sonography (HP:0010963)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Gene: KIF26A
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Gene: KIF26A
Phenotype: Seizure (HP:0001250)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Gene: KIF26A
Phenotype: Hypotonia (HP:0001252)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Gene: KIF26A
Phenotype: Ileus (HP:0002595)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Gene: KIF26A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Gene: KIF26A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Gene: KIF26A
Phenotype: High, narrow palate (HP:0002705)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Gene: KIF26A
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Gene: KIF26A
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Gene: KIF26A
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Gene: KIF26A
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Gene: KIF26A
Phenotype: Congenital onset (HP:0003577)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Gene: KIF26A
Phenotype: Schizencephaly (HP:0010636)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Gene: KIF26A
Phenotype: Hypotelorism (HP:0000601)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Gene: KIF26A
Phenotype: Synophrys (HP:0000664)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Gene: KIF26A
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Gene: KIF26A
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Gene: KIF26A
Phenotype: Retrognathia (HP:0000278)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Gene: KIF26A
Phenotype: Congenital contracture (HP:0002803)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Gene: KIF26A
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Gene: KIF26A
Phenotype: High palate (HP:0000218)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Gene: KIF26A
Phenotype: Colpocephaly (HP:0030048)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Gene: KIF26A
Phenotype: Growth delay (HP:0001510)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Gene: KIF26A
Phenotype: Low-set ears (HP:0000369)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Gene: KIF26A
Phenotype: Narrow forehead (HP:0000341)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Gene: KIF26A
Phenotype: Long philtrum (HP:0000343)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Gene: KIF26A
Phenotype: Micrognathia (HP:0000347)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Gene: KIF26A
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Gene: KIF26A
Phenotype: Short philtrum (HP:0000322)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Gene: KIF26A
Phenotype: Short neck (HP:0000470)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Gene: ABCA12
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Autosomal congenital ichthyosis, Harlequin type; Ichthyosis congenita, Harlequin type; Harlequin ichthyosis; HI (ORPHA:457)
Gene: ABCA12
Phenotype: Sepsis (HP:0100806)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ABCA12
Phenotype: Motor delay (HP:0001270)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B (OMIM:242500)
Gene: ABCA12
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A (OMIM:601277)
Gene: ABCA12
Phenotype: Congenital ichthyosiform erythroderma (HP:0007431)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B (OMIM:242500)
Gene: ABCA12
Phenotype: Congenital ichthyosiform erythroderma (HP:0007431)
Associated disease: Autosomal congenital ichthyosis, Harlequin type; Ichthyosis congenita, Harlequin type; Harlequin ichthyosis; HI (ORPHA:457)
Gene: ABCA12
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ABCA12
Phenotype: Clubbing (HP:0001217)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A (OMIM:601277)
Gene: ABCA12
Phenotype: Neonatal death (HP:0003811)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B (OMIM:242500)
Gene: ABCA12
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ABCA12
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Autosomal congenital ichthyosis, Harlequin type; Ichthyosis congenita, Harlequin type; Harlequin ichthyosis; HI (ORPHA:457)
Gene: ABCA12
Phenotype: Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A (OMIM:601277)
Gene: ABCA12
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A (OMIM:601277)
Gene: ABCA12
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B (OMIM:242500)
Gene: ABCA12
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ABCA12
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A (OMIM:601277)
Gene: ABCA12
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ABCA12
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Autosomal congenital ichthyosis, Harlequin type; Ichthyosis congenita, Harlequin type; Harlequin ichthyosis; HI (ORPHA:457)
Gene: ABCA12
Phenotype: Rigidity (HP:0002063)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B (OMIM:242500)
Gene: ABCA12
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: Autosomal congenital ichthyosis, Harlequin type; Ichthyosis congenita, Harlequin type; Harlequin ichthyosis; HI (ORPHA:457)
Gene: ABCA12
Phenotype: Congenital onset (HP:0003577)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A (OMIM:601277)
Gene: ABCA12
Phenotype: Congenital onset (HP:0003577)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B (OMIM:242500)
Gene: ABCA12
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Autosomal congenital ichthyosis, Harlequin type; Ichthyosis congenita, Harlequin type; Harlequin ichthyosis; HI (ORPHA:457)
Gene: ABCA12
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Autosomal congenital ichthyosis, Harlequin type; Ichthyosis congenita, Harlequin type; Harlequin ichthyosis; HI (ORPHA:457)
Gene: ABCA12
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ABCA12
Phenotype: Gangrene (HP:0100758)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ABCA12
Phenotype: Erythroderma (HP:0001019)
Associated disease: Autosomal congenital ichthyosis, Harlequin type; Ichthyosis congenita, Harlequin type; Harlequin ichthyosis; HI (ORPHA:457)
Gene: ABCA12
Phenotype: Erythroderma (HP:0001019)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ABCA12
Phenotype: Erythroderma (HP:0001019)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ABCA12
Phenotype: Corneal erosion (HP:0200020)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ABCA12
Phenotype: Lack of skin elasticity (HP:0100679)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ABCA12
Phenotype: Dehydration (HP:0001944)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ABCA12
Phenotype: Dehydration (HP:0001944)
Associated disease: Autosomal congenital ichthyosis, Harlequin type; Ichthyosis congenita, Harlequin type; Harlequin ichthyosis; HI (ORPHA:457)
Gene: ABCA12
Phenotype: Ectropion (HP:0000656)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B (OMIM:242500)
Gene: ABCA12
Phenotype: Ectropion (HP:0000656)
Associated disease: Autosomal congenital ichthyosis, Harlequin type; Ichthyosis congenita, Harlequin type; Harlequin ichthyosis; HI (ORPHA:457)
Gene: ABCA12
Phenotype: Ectropion (HP:0000656)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A (OMIM:601277)
Gene: ABCA12
Phenotype: Ectropion (HP:0000656)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ABCA12
Phenotype: Ectropion (HP:0000656)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ABCA12
Phenotype: Short stature (HP:0004322)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ABCA12
Phenotype: Short stature (HP:0004322)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ABCA12
Phenotype: Pruritus (HP:0000989)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ABCA12
Phenotype: Pruritus (HP:0000989)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ABCA12
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A (OMIM:601277)
Gene: ABCA12
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ABCA12
Phenotype: Dry skin (HP:0000958)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ABCA12
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ABCA12
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ABCA12
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Autosomal congenital ichthyosis, Harlequin type; Ichthyosis congenita, Harlequin type; Harlequin ichthyosis; HI (ORPHA:457)
Gene: ABCA12
Phenotype: Sparse hair (HP:0008070)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ABCA12
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ABCA12
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Autosomal congenital ichthyosis, Harlequin type; Ichthyosis congenita, Harlequin type; Harlequin ichthyosis; HI (ORPHA:457)