TaoMedAI/RareMedData huggingface dataset:
Gene: AGPS
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Short humerus (HP:0005792)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3 (OMIM:600121)
Gene: AGPS
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGPS
Phenotype: Short femur (HP:0003097)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3 (OMIM:600121)
Gene: AGPS
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGPS
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGPS
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGPS
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGPS
Phenotype: Failure to thrive (HP:0001508)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3 (OMIM:600121)
Gene: AGPS
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGPS
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGPS
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGPS
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGPS
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGPS
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: APOL1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: APOL1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO (OMIM:612551)
Gene: APOL1
Phenotype: Peritonitis (HP:0002586)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: APOL1
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO (OMIM:612551)
Gene: APOL1
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: APOL1
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO (OMIM:612551)
Gene: APOL1
Phenotype: Proteinuria (HP:0000093)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: APOL1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: APOL1
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: APOL1
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: APOL1
Phenotype: Headache (HP:0002315)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: APOL1
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: APOL1
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: APOL1
Phenotype: Fever (HP:0001945)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: APOL1
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: APOL1
Phenotype: Irritability (HP:0000737)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: APOL1
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: APOL1
Phenotype: Edema (HP:0000969)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: APOL1
Phenotype: Foamy urine (HP:0031504)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: APOL1
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: AP3B1
Phenotype: Ocular albinism (HP:0001107)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Motor delay (HP:0001270)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Aberrant melanosome maturation (HP:0007384)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Acetabular dysplasia (HP:0008807)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Generalized hypopigmentation (HP:0007513)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Abnormal natural killer cell physiology (HP:0012177)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Recurrent abscess formation (HP:0002722)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Inverted CD4:CD8 ratio (HP:0033222)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Enlarged platelet dense granules (HP:0033264)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Absent platelet dense granules (HP:0033263)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Congenital onset (HP:0003577)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Impaired ADP-induced platelet aggregation (HP:0004866)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Fair hair (HP:0002286)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Albinism (HP:0001022)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Chronic oral candidiasis (HP:0009098)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Nystagmus (HP:0000639)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Photophobia (HP:0000613)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Carious teeth (HP:0000670)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Periodontitis (HP:0000704)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Reduced total natural killer cell count (HP:0040218)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Epicanthus (HP:0000286)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Microcephaly (HP:0000252)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Low-set ears (HP:0000369)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Long philtrum (HP:0000343)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Strabismus (HP:0000486)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: AP3B1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Gene: FCN3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FICOLIN 3 DEFICIENCY (OMIM:613860)
Gene: FCN3
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: FICOLIN 3 DEFICIENCY (OMIM:613860)
Gene: FCN3
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: FICOLIN 3 DEFICIENCY (OMIM:613860)
Gene: FCN3
Phenotype: Recurrent abscess formation (HP:0002722)
Associated disease: FICOLIN 3 DEFICIENCY (OMIM:613860)
Gene: FCN3
Phenotype: Necrotizing enterocolitis (HP:0033165)
Associated disease: FICOLIN 3 DEFICIENCY (OMIM:613860)
Gene: FCN3
Phenotype: Verrucae (HP:0200043)
Associated disease: FICOLIN 3 DEFICIENCY (OMIM:613860)
Gene: MAPKAPK5
Phenotype: Syndactyly (HP:0001159)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: Polydactyly (HP:0010442)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: Overhanging nasal tip (HP:0011833)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: Sclerocornea (HP:0000647)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: Short stature (HP:0004322)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: Double inlet left ventricle (HP:0011555)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: Sparse hair (HP:0008070)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: Retrognathia (HP:0000278)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: High palate (HP:0000218)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: Small for gestational age (HP:0001518)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: Narrow forehead (HP:0000341)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: Cataract (HP:0000518)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: Prominent forehead (HP:0011220)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: MAPKAPK5
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Gene: CDC14A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 32, WITH OR WITHOUT IMMOTILE SPERM (OMIM:608653)
Gene: CDC14A
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 32, WITH OR WITHOUT IMMOTILE SPERM (OMIM:608653)
Gene: CDC14A
Phenotype: Abnormal sperm morphology (HP:0012864)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 32, WITH OR WITHOUT IMMOTILE SPERM (OMIM:608653)
Gene: CDC14A
Phenotype: Male infertility (HP:0003251)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 32, WITH OR WITHOUT IMMOTILE SPERM (OMIM:608653)
Gene: CDC14A
Phenotype: Immotile sperm (HP:0012208)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 32, WITH OR WITHOUT IMMOTILE SPERM (OMIM:608653)
Gene: CDC14A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 32, WITH OR WITHOUT IMMOTILE SPERM (OMIM:608653)
Gene: TCAP
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TCAP
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7 (OMIM:601954)
Gene: TCAP
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7 (OMIM:601954)
Gene: TCAP
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7 (OMIM:601954)
Gene: TCAP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7 (OMIM:601954)
Gene: TCAP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 (OMIM:607487)
Gene: TCAP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TCAP
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7 (OMIM:601954)
Gene: TCAP
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7 (OMIM:601954)
Gene: TCAP
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7 (OMIM:601954)
Gene: TCAP
Phenotype: Proximal upper limb amyotrophy (HP:0008948)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7 (OMIM:601954)
Gene: TCAP
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7 (OMIM:601954)
Gene: TCAP
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TCAP
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TCAP
Phenotype: Adult onset (HP:0003581)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 (OMIM:607487)
Gene: TCAP
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7 (OMIM:601954)
Gene: TCAP
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7 (OMIM:601954)