TaoMedAI/RareMedData huggingface dataset:
Gene: RSPH3
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH3
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RAB34
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Gene: RAB34
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Gene: RAB34
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Gene: RAB34
Phenotype: Microtia (HP:0008551)
Associated disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Gene: RAB34
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Gene: RAB34
Phenotype: Mesoaxial hand polydactyly (HP:0006159)
Associated disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Gene: RAB34
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Gene: RAB34
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Gene: RAB34
Phenotype: Lobulated tongue (HP:0000180)
Associated disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Gene: RAB34
Phenotype: Cleft palate (HP:0000175)
Associated disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Gene: RAB34
Phenotype: Cleft lip (HP:0410030)
Associated disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Gene: RAB34
Phenotype: Anal atresia (HP:0002023)
Associated disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Gene: RAB34
Phenotype: Bilobed right lung (HP:0033183)
Associated disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Gene: RAB34
Phenotype: Synophrys (HP:0000664)
Associated disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Gene: RAB34
Phenotype: Late first trimester onset (HP:0034199)
Associated disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Gene: RAB34
Phenotype: Second trimester onset (HP:0034198)
Associated disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Gene: RAB34
Phenotype: Mesoaxial foot polydactyly (HP:0010112)
Associated disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Gene: RAB34
Phenotype: Short femur (HP:0003097)
Associated disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Gene: RAB34
Phenotype: Retrognathia (HP:0000278)
Associated disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Gene: RAB34
Phenotype: Turricephaly (HP:0000262)
Associated disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Gene: RAB34
Phenotype: Macrocephaly (HP:0000256)
Associated disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Gene: RAB34
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Gene: RAB34
Phenotype: Low-set ears (HP:0000369)
Associated disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Gene: RAB34
Phenotype: Broad forehead (HP:0000337)
Associated disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Gene: RAB34
Phenotype: Micrognathia (HP:0000347)
Associated disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Gene: RAB34
Phenotype: Hypertelorism (HP:0000316)
Associated disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Gene: RAB34
Phenotype: Truncus arteriosus (HP:0001660)
Associated disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Gene: RAB34
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Gene: RAB34
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Gene: RAB34
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Gene: RAB34
Phenotype: Preaxial foot polydactyly (HP:0001841)
Associated disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Gene: RAB34
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Gene: HMCN1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HMCN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HMCN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HMCN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: HMCN1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HMCN1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HMCN1
Phenotype: Late onset (HP:0003584)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: HMCN1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HMCN1
Phenotype: Macular degeneration (HP:0000608)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: HMCN1
Phenotype: Macular drusen (HP:0030499)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: HMCN1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HMCN1
Phenotype: Foveal hypopigmentation (HP:0012643)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: HMCN1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HMCN1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HMCN1
Phenotype: Choroidal neovascularization (HP:0011506)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: HMCN1
Phenotype: Macular hemorrhage (HP:0025574)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: HMCN1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HMCN1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HMCN1
Phenotype: Geographic atrophy (HP:0031609)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: HMCN1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HMCN1
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: HMCN1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HMCN1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HMCN1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDCA7
Phenotype: Motor delay (HP:0001270)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 (OMIM:616910)
Gene: CDCA7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 (OMIM:616910)
Gene: CDCA7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: CDCA7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 (OMIM:616910)
Gene: CDCA7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: CDCA7
Phenotype: Hypospadias (HP:0000047)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 (OMIM:616910)
Gene: CDCA7
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 (OMIM:616910)
Gene: CDCA7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 (OMIM:616910)
Gene: CDCA7
Phenotype: Communicating hydrocephalus (HP:0001334)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: CDCA7
Phenotype: Macroglossia (HP:0000158)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: CDCA7
Phenotype: Recurrent infections (HP:0002719)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 (OMIM:616910)
Gene: CDCA7
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: CDCA7
Phenotype: Malabsorption (HP:0002024)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: CDCA7
Phenotype: Polydactyly (HP:0010442)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 (OMIM:616910)
Gene: CDCA7
Phenotype: Congenital onset (HP:0003577)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 (OMIM:616910)
Gene: CDCA7
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: CDCA7
Phenotype: Protruding tongue (HP:0010808)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: CDCA7
Phenotype: Anemia (HP:0001903)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: CDCA7
Phenotype: Short stature (HP:0004322)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: CDCA7
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: CDCA7
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 (OMIM:616910)
Gene: CDCA7
Phenotype: Agammaglobulinemia (HP:0004432)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 (OMIM:616910)
Gene: CDCA7
Phenotype: Short nose (HP:0003196)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 (OMIM:616910)
Gene: CDCA7
Phenotype: Hypoplastic ischia (HP:0003175)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 (OMIM:616910)
Gene: CDCA7
Phenotype: Abnormality of chromosome stability (HP:0003220)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: CDCA7
Phenotype: Epicanthus (HP:0000286)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 (OMIM:616910)
Gene: CDCA7
Phenotype: Epicanthus (HP:0000286)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: CDCA7
Phenotype: Macrocephaly (HP:0000256)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: CDCA7
Phenotype: Microcephaly (HP:0000252)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 (OMIM:616910)
Gene: CDCA7
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: CDCA7
Phenotype: Abnormal B cell morphology (HP:0002846)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 (OMIM:616910)
Gene: CDCA7
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 (OMIM:616910)
Gene: CDCA7
Phenotype: Flat face (HP:0012368)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: CDCA7
Phenotype: Flat face (HP:0012368)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 (OMIM:616910)
Gene: CDCA7
Phenotype: Low-set ears (HP:0000369)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 (OMIM:616910)
Gene: CDCA7
Phenotype: Low-set ears (HP:0000369)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: CDCA7
Phenotype: Micrognathia (HP:0000347)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: CDCA7
Phenotype: Hypertelorism (HP:0000316)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 (OMIM:616910)
Gene: CDCA7
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: CDCA7
Phenotype: Cellular immunodeficiency (HP:0005374)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: CDCA7
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 (OMIM:616910)
Gene: CDCA7
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 (OMIM:616910)
Gene: CDCA7
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: CDCA7
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 (OMIM:616910)
Gene: CDCA7
Phenotype: Strabismus (HP:0000486)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 (OMIM:616910)
Gene: CDCA7
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: CDCA7
Phenotype: Abnormality of neutrophils (HP:0001874)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: SPATA16
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 6 (OMIM:102530)
Gene: SPATA16
Phenotype: Decreased acrosin in sperm head (HP:0031136)
Associated disease: SPERMATOGENIC FAILURE 6 (OMIM:102530)
Gene: SPATA16
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 6 (OMIM:102530)
Gene: SPATA16
Phenotype: Globozoospermia (HP:0012205)
Associated disease: SPERMATOGENIC FAILURE 6 (OMIM:102530)
Gene: TTC29
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 42 (OMIM:618745)
Gene: TTC29
Phenotype: Absent sperm flagella (HP:0032558)
Associated disease: SPERMATOGENIC FAILURE 42 (OMIM:618745)
Gene: TTC29
Phenotype: Short sperm flagella (HP:0032559)
Associated disease: SPERMATOGENIC FAILURE 42 (OMIM:618745)
Gene: TTC29
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: SPERMATOGENIC FAILURE 42 (OMIM:618745)
Gene: TTC29
Phenotype: Microcephalic sperm head (HP:0032561)
Associated disease: SPERMATOGENIC FAILURE 42 (OMIM:618745)
Gene: TTC29
Phenotype: Tapered sperm head (HP:0032562)
Associated disease: SPERMATOGENIC FAILURE 42 (OMIM:618745)
Gene: TTC29
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 42 (OMIM:618745)
Gene: TTC29
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE 42 (OMIM:618745)
Gene: SPRTN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RUIJS-AALFS SYNDROME (OMIM:616200)
Gene: SPRTN
Phenotype: Hypogonadism (HP:0000135)
Associated disease: RUIJS-AALFS SYNDROME (OMIM:616200)
Gene: SPRTN
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: RUIJS-AALFS SYNDROME (OMIM:616200)
Gene: SPRTN
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: RUIJS-AALFS SYNDROME (OMIM:616200)
Gene: SPRTN
Phenotype: Frontal bossing (HP:0002007)
Associated disease: RUIJS-AALFS SYNDROME (OMIM:616200)
Gene: SPRTN
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: RUIJS-AALFS SYNDROME (OMIM:616200)
Gene: SPRTN
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: RUIJS-AALFS SYNDROME (OMIM:616200)
Gene: SPRTN
Phenotype: Decreased body weight (HP:0004325)
Associated disease: RUIJS-AALFS SYNDROME (OMIM:616200)
Gene: SPRTN
Phenotype: Short stature (HP:0004322)
Associated disease: RUIJS-AALFS SYNDROME (OMIM:616200)
Gene: SPRTN
Phenotype: Thoracic kyphoscoliosis (HP:0005659)
Associated disease: RUIJS-AALFS SYNDROME (OMIM:616200)
Gene: SPRTN
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: RUIJS-AALFS SYNDROME (OMIM:616200)
Gene: SPRTN
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: RUIJS-AALFS SYNDROME (OMIM:616200)
Gene: SPRTN
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: RUIJS-AALFS SYNDROME (OMIM:616200)
Gene: SPRTN
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: RUIJS-AALFS SYNDROME (OMIM:616200)
Gene: SPRTN
Phenotype: Osteoporosis (HP:0000939)
Associated disease: RUIJS-AALFS SYNDROME (OMIM:616200)
Gene: SPRTN
Phenotype: Sparse hair (HP:0008070)
Associated disease: RUIJS-AALFS SYNDROME (OMIM:616200)
Gene: SPRTN
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: RUIJS-AALFS SYNDROME (OMIM:616200)
Gene: SPRTN
Phenotype: Clinodactyly (HP:0030084)
Associated disease: RUIJS-AALFS SYNDROME (OMIM:616200)
Gene: SPRTN
Phenotype: Micrognathia (HP:0000347)
Associated disease: RUIJS-AALFS SYNDROME (OMIM:616200)
Gene: SPRTN
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: RUIJS-AALFS SYNDROME (OMIM:616200)
Gene: SPRTN
Phenotype: Triangular face (HP:0000325)
Associated disease: RUIJS-AALFS SYNDROME (OMIM:616200)
Gene: SPRTN
Phenotype: Pes planus (HP:0001763)
Associated disease: RUIJS-AALFS SYNDROME (OMIM:616200)
Gene: SPRTN
Phenotype: Bulbous nose (HP:0000414)
Associated disease: RUIJS-AALFS SYNDROME (OMIM:616200)
Gene: SPRTN
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: RUIJS-AALFS SYNDROME (OMIM:616200)
Gene: SPRTN
Phenotype: Cataract (HP:0000518)
Associated disease: RUIJS-AALFS SYNDROME (OMIM:616200)
Gene: LRMDA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE VII (OMIM:615179)
Gene: LRMDA
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE VII (OMIM:615179)
Gene: LRMDA
Phenotype: Albinism (HP:0001022)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE VII (OMIM:615179)
Gene: LRMDA
Phenotype: High hypermetropia (HP:0008499)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE VII (OMIM:615179)
Gene: LRMDA
Phenotype: Nystagmus (HP:0000639)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE VII (OMIM:615179)
Gene: LRMDA
Phenotype: Photophobia (HP:0000613)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE VII (OMIM:615179)
Gene: LRMDA
Phenotype: Iris transillumination defect (HP:0012805)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE VII (OMIM:615179)
Gene: LRMDA
Phenotype: Exotropia (HP:0000577)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE VII (OMIM:615179)
Gene: LRMDA
Phenotype: Esotropia (HP:0000565)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE VII (OMIM:615179)
Gene: SLC4A11
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: CORNEAL ENDOTHELIAL DYSTROPHY (OMIM:217700)
Gene: SLC4A11
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 (OMIM:613268)
Gene: SLC4A11
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS (OMIM:217400)
Gene: SLC4A11
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: Corneal dystrophy-perceptive hearing loss syndrome; CDPD; Corneal dystrophy-perceptive deafness syndrome; Corneal dystrophy with progressive hearing loss; Harboyan syndrome; Corneal dystrophy with progressive deafness (ORPHA:1490)
Gene: SLC4A11
Phenotype: Pediatric onset (HP:0410280)
Associated disease: CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS (OMIM:217400)
Gene: SLC4A11
Phenotype: Corneal guttata (HP:0012038)
Associated disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 (OMIM:613268)
Gene: SLC4A11
Phenotype: Corneal stromal edema (HP:0012040)
Associated disease: CHEDII; Congenital hereditary endothelial dystrophy type 2; Infantile hereditary endothelial dystrophy; CHED2; Congenital hereditary endothelial dystrophy type II; Autosomal recessive CHED; Maumenee corneal dystrophy; Autosomal recessive congenital hereditary endothelial dystrophy (ORPHA:293603)
Gene: SLC4A11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CORNEAL ENDOTHELIAL DYSTROPHY (OMIM:217700)
Gene: SLC4A11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS (OMIM:217400)
Gene: SLC4A11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 (OMIM:613268)
Gene: SLC4A11
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CHEDII; Congenital hereditary endothelial dystrophy type 2; Infantile hereditary endothelial dystrophy; CHED2; Congenital hereditary endothelial dystrophy type II; Autosomal recessive CHED; Maumenee corneal dystrophy; Autosomal recessive congenital hereditary endothelial dystrophy (ORPHA:293603)
Gene: SLC4A11
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS (OMIM:217400)