TaoMedAI/RareMedData huggingface dataset:
Gene: C4B
Phenotype: Anti-nucleoporin 62 antibody positivity (HP:0033556)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Cheilitis (HP:0100825)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Meningitis (HP:0001287)
Associated disease: COMPLEMENT COMPONENT 4B DEFICIENCY (OMIM:614379)
Gene: C4B
Phenotype: Seizure (HP:0001250)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Proteinuria (HP:0000093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Arthritis (HP:0001369)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Malaise (HP:0033834)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Pyuria (HP:0012085)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Malar rash (HP:0025300)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: COMPLEMENT COMPONENT 4B DEFICIENCY (OMIM:614379)
Gene: C4B
Phenotype: Asthma (HP:0002099)
Associated disease: COMPLEMENT COMPONENT 4B DEFICIENCY (OMIM:614379)
Gene: C4B
Phenotype: Chorea (HP:0002072)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Anorexia (HP:0002039)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMPLEMENT COMPONENT 4B DEFICIENCY (OMIM:614379)
Gene: C4B
Phenotype: Chronic active hepatitis (HP:0200120)
Associated disease: COMPLEMENT COMPONENT 4B DEFICIENCY (OMIM:614379)
Gene: C4B
Phenotype: Anti-titin antibody positivity (HP:5000038)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Abnormality of salivation (HP:0100755)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Abnormal pigmentation of the oral mucosa (HP:0100669)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Anti-dsDNA antibody positivity (HP:0020151)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Anti-ribosome Po antibody positivity (HP:0034076)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Anti-complement component C1q antibody positivity (HP:0034077)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Anti-phosphatidic acid antibody positivity (HP:0034096)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Anti-Ro52/TRIM21 antibody positivity (HP:0034093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Fever (HP:0001945)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Depression (HP:0000716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Hematuria (HP:0000790)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Hypertension (HP:0000822)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Decreased circulating complement C4b concentration (HP:0045044)
Associated disease: COMPLEMENT COMPONENT 4B DEFICIENCY (OMIM:614379)
Gene: C4B
Phenotype: Decreased circulating complement C4 concentration (HP:0045042)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Serositis (HP:0045073)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Anti-U1 ribonucleoprotein antibody positivity (HP:0033028)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Anti-Sm antibody positivity (HP:0033040)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Alopecia (HP:0001596)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Fatigue (HP:0012378)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: COMPLEMENT COMPONENT 4B DEFICIENCY (OMIM:614379)
Gene: C4B
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: COMPLEMENT COMPONENT 4B DEFICIENCY (OMIM:614379)
Gene: C4B
Phenotype: Retinopathy (HP:0000488)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: COMPLEMENT COMPONENT 4B DEFICIENCY (OMIM:614379)
Gene: C4B
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Weight loss (HP:0001824)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CAPN5
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CAPN5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CAPN5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY (OMIM:193235)
Gene: CAPN5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CAPN5
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CAPN5
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CAPN5
Phenotype: Large hyperpigmented retinal spots (HP:0007658)
Associated disease: VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY (OMIM:193235)
Gene: CAPN5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CAPN5
Phenotype: Blindness (HP:0000618)
Associated disease: VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY (OMIM:193235)
Gene: CAPN5
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CAPN5
Phenotype: Peripheral retinal neovascularization (HP:0030667)
Associated disease: VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY (OMIM:193235)
Gene: CAPN5
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CAPN5
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CAPN5
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY (OMIM:193235)
Gene: CAPN5
Phenotype: Posterior retinal neovascularization (HP:0007778)
Associated disease: VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY (OMIM:193235)
Gene: CAPN5
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CAPN5
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CAPN5
Phenotype: Vitreous hemorrhage (HP:0007902)
Associated disease: VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY (OMIM:193235)
Gene: CAPN5
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CAPN5
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY (OMIM:193235)
Gene: CAPN5
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CAPN5
Phenotype: Uveitis (HP:0000554)
Associated disease: VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY (OMIM:193235)
Gene: CAPN5
Phenotype: Retinal detachment (HP:0000541)
Associated disease: VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY (OMIM:193235)
Gene: CAPN5
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CAPN5
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: C5
Phenotype: Generalized seborrheic dermatitis (HP:0007569)
Associated disease: COMPLEMENT COMPONENT 5 DEFICIENCY (OMIM:609536)
Gene: C5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMPLEMENT COMPONENT 5 DEFICIENCY (OMIM:609536)
Gene: C5
Phenotype: Reduced circulating CH50 activity (HP:0025434)
Associated disease: COMPLEMENT COMPONENT 5 DEFICIENCY (OMIM:609536)
Gene: C5
Phenotype: Intractable diarrhea (HP:0002041)
Associated disease: COMPLEMENT COMPONENT 5 DEFICIENCY (OMIM:609536)
Gene: C5
Phenotype: Decreased circulating complement C5 concentration (HP:0033060)
Associated disease: COMPLEMENT COMPONENT 5 DEFICIENCY (OMIM:609536)
Gene: C5
Phenotype: Recurrent meningococcal disease (HP:0005381)
Associated disease: COMPLEMENT COMPONENT 5 DEFICIENCY (OMIM:609536)
Gene: C5
Phenotype: Recurrent Neisserial infections (HP:0005430)
Associated disease: COMPLEMENT COMPONENT 5 DEFICIENCY (OMIM:609536)
Gene: C6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMPLEMENT COMPONENT 6 DEFICIENCY (OMIM:612446)
Gene: C6
Phenotype: Reduced circulating CH50 activity (HP:0025434)
Associated disease: COMPLEMENT COMPONENT 6 DEFICIENCY (OMIM:612446)
Gene: C6
Phenotype: Decreased circulating complement C6 concentration (HP:0033059)
Associated disease: COMPLEMENT COMPONENT 6 DEFICIENCY (OMIM:612446)
Gene: C6
Phenotype: Recurrent meningococcal disease (HP:0005381)
Associated disease: COMPLEMENT COMPONENT 6 DEFICIENCY (OMIM:612446)
Gene: C7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMPLEMENT COMPONENT 7 DEFICIENCY (OMIM:610102)
Gene: C7
Phenotype: Decreased circulating complement C7 concentration (HP:0033058)
Associated disease: COMPLEMENT COMPONENT 7 DEFICIENCY (OMIM:610102)
Gene: C7
Phenotype: Recurrent meningococcal disease (HP:0005381)
Associated disease: COMPLEMENT COMPONENT 7 DEFICIENCY (OMIM:610102)
Gene: C7
Phenotype: Recurrent Neisserial infections (HP:0005430)
Associated disease: COMPLEMENT COMPONENT 7 DEFICIENCY (OMIM:610102)
Gene: C8A
Phenotype: Meningitis (HP:0001287)
Associated disease: COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I (OMIM:613790)
Gene: C8A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I (OMIM:613790)
Gene: C8A
Phenotype: Systemic lupus erythematosus (HP:0002725)
Associated disease: COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I (OMIM:613790)
Gene: C8A
Phenotype: Decreased circulating complement C8 concentration (HP:0004434)
Associated disease: COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I (OMIM:613790)
Gene: C8B
Phenotype: Meningitis (HP:0001287)
Associated disease: COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II (OMIM:613789)
Gene: C8B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II (OMIM:613789)
Gene: C8B
Phenotype: Decreased circulating complement C8 concentration (HP:0004434)
Associated disease: COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II (OMIM:613789)
Gene: C8B
Phenotype: Recurrent Neisserial infections (HP:0005430)
Associated disease: COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II (OMIM:613789)
Gene: C9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 15 (OMIM:615591)
Gene: C9
Phenotype: Adult onset (HP:0003581)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 15 (OMIM:615591)
Gene: C9
Phenotype: Macular degeneration (HP:0000608)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 15 (OMIM:615591)
Gene: C9
Phenotype: Decreased circulating complement C9 concentration (HP:0012308)
Associated disease: COMPLEMENT COMPONENT 9 DEFICIENCY (OMIM:613825)
Gene: VPS51
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Volvulus (HP:0002580)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Inability to walk (HP:0002540)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Clubbing (HP:0001217)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Decreased liver function (HP:0001410)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Constipation (HP:0002019)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Asthma (HP:0002099)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Gait ataxia (HP:0002066)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Status epilepticus (HP:0002133)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Sleep apnea (HP:0010535)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Pleural effusion (HP:0002202)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Edema (HP:0000969)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Epicanthus (HP:0000286)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Macrodontia (HP:0001572)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Microcephaly (HP:0000252)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: High palate (HP:0000218)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Hypoplastic hippocampus (HP:0025517)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Overfolded helix (HP:0000396)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Hypertelorism (HP:0000316)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Short philtrum (HP:0000322)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Strabismus (HP:0000486)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Anteverted nares (HP:0000463)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: VPS51
Phenotype: Long eyelashes (HP:0000527)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Gene: MYRF
Phenotype: Motor delay (HP:0001270)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Seizure (HP:0001250)
Associated disease: ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION (OMIM:618113)
Gene: MYRF
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Hepatopulmonary fusion (HP:0410259)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Micropenis (HP:0000054)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NANOPHTHALMOS 1 (OMIM:600165)
Gene: MYRF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION (OMIM:618113)
Gene: MYRF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MYRF
Phenotype: Cor triatriatum sinister (HP:0031134)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Aplasia of the uterus (HP:0000151)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Bilateral microphthalmos (HP:0007633)
Associated disease: NANOPHTHALMOS 1 (OMIM:600165)
Gene: MYRF
Phenotype: Coronary sinus enlargement (HP:0031298)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Bronchomalacia (HP:0002780)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Patent urachus (HP:0010479)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Biventricular hypertrophy (HP:0200128)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Partial anomalous pulmonary venous return (HP:0010773)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION (OMIM:618113)
Gene: MYRF
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MYRF
Phenotype: Acute encephalopathy (HP:0006846)
Associated disease: ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION (OMIM:618113)
Gene: MYRF
Phenotype: Penoscrotal hypospadias (HP:0000808)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Second trimester onset (HP:0034198)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Unilateral cryptorchidism (HP:0012741)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Childhood onset (HP:0011463)
Associated disease: ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION (OMIM:618113)
Gene: MYRF
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Dysplastic tricuspid valve (HP:0030732)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MYRF
Phenotype: Mesocardia (HP:0011599)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)