TaoMedAI/RareMedData huggingface dataset:
Gene: NSMCE2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSMCE2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: SECKEL SYNDROME 10 (OMIM:617253)
Gene: NSMCE2
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: SECKEL SYNDROME 10 (OMIM:617253)
Gene: NSMCE2
Phenotype: Glycosuria (HP:0003076)
Associated disease: SECKEL SYNDROME 10 (OMIM:617253)
Gene: NSMCE2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSMCE2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSMCE2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: SECKEL SYNDROME 10 (OMIM:617253)
Gene: NSMCE2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Slender long bone (HP:0003100)
Associated disease: SECKEL SYNDROME 10 (OMIM:617253)
Gene: NSMCE2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSMCE2
Phenotype: Insulin resistance (HP:0000855)
Associated disease: SECKEL SYNDROME 10 (OMIM:617253)
Gene: NSMCE2
Phenotype: Insulin-resistant diabetes mellitus (HP:0000831)
Associated disease: Microcephalic primordial dwarfism-insulin resistance syndrome (ORPHA:436182)
Gene: NSMCE2
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: SECKEL SYNDROME 10 (OMIM:617253)
Gene: NSMCE2
Phenotype: Hypertension (HP:0000822)
Associated disease: SECKEL SYNDROME 10 (OMIM:617253)
Gene: NSMCE2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSMCE2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: SECKEL SYNDROME 10 (OMIM:617253)
Gene: NSMCE2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSMCE2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: SECKEL SYNDROME 10 (OMIM:617253)
Gene: NSMCE2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Abdominal aortic aneurysm (HP:0005112)
Associated disease: SECKEL SYNDROME 10 (OMIM:617253)
Gene: NSMCE2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Microcephaly (HP:0000252)
Associated disease: SECKEL SYNDROME 10 (OMIM:617253)
Gene: NSMCE2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSMCE2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSMCE2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSMCE2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Hyperplasia of midface (HP:0012371)
Associated disease: SECKEL SYNDROME 10 (OMIM:617253)
Gene: NSMCE2
Phenotype: Congenital blindness (HP:0007875)
Associated disease: Microcephalic primordial dwarfism-insulin resistance syndrome (ORPHA:436182)
Gene: NSMCE2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSMCE2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSMCE2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Microcephalic primordial dwarfism-insulin resistance syndrome (ORPHA:436182)
Gene: NSMCE2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Microretrognathia (HP:0000308)
Associated disease: SECKEL SYNDROME 10 (OMIM:617253)
Gene: NSMCE2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: SECKEL SYNDROME 10 (OMIM:617253)
Gene: NSMCE2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSMCE2
Phenotype: Acute pancreatitis (HP:0001735)
Associated disease: SECKEL SYNDROME 10 (OMIM:617253)
Gene: NSMCE2
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: SECKEL SYNDROME 10 (OMIM:617253)
Gene: NSMCE2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSMCE2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Retinal detachment (HP:0000541)
Associated disease: SECKEL SYNDROME 10 (OMIM:617253)
Gene: NSMCE2
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Microcephalic primordial dwarfism-insulin resistance syndrome (ORPHA:436182)
Gene: NSMCE2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM83H
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IIIA (OMIM:130900)
Gene: FAM83H
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IIIA (OMIM:130900)
Gene: FAM83H
Phenotype: Anterior open-bite malocclusion (HP:0009102)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IIIA (OMIM:130900)
Gene: FAM83H
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IIIA (OMIM:130900)
Gene: FBXO43
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: FBXO43
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: FBXO43
Phenotype: Azoospermia (HP:0000027)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: FBXO43
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 64 (OMIM:619696)
Gene: FBXO43
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 12 (OMIM:619697)
Gene: FBXO43
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: FBXO43
Phenotype: Female infertility (HP:0008222)
Associated disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 12 (OMIM:619697)
Gene: FBXO43
Phenotype: Abnormal preimplantation embryonic development (HP:0033335)
Associated disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 12 (OMIM:619697)
Gene: FBXO43
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: FBXO43
Phenotype: Obstructive azoospermia (HP:0011962)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: FBXO43
Phenotype: Reduced progressive sperm motility (HP:0034011)
Associated disease: SPERMATOGENIC FAILURE 64 (OMIM:619696)
Gene: FBXO43
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 64 (OMIM:619696)
Gene: FBXO43
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: SPERMATOGENIC FAILURE 64 (OMIM:619696)
Gene: FBXO43
Phenotype: Abnormal sperm head morphology (HP:0012865)
Associated disease: SPERMATOGENIC FAILURE 64 (OMIM:619696)
Gene: FBXO43
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: FBXO43
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 64 (OMIM:619696)
Gene: CRB2
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: CRB2
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: CRB2
Phenotype: Seizure (HP:0001250)
Associated disease: VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE (OMIM:219730)
Gene: CRB2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE (OMIM:219730)
Gene: CRB2
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: CRB2
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9 (OMIM:616220)
Gene: CRB2
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: CRB2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE (OMIM:219730)
Gene: CRB2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9 (OMIM:616220)
Gene: CRB2
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE (OMIM:219730)
Gene: CRB2
Phenotype: Tubular luminal dilatation (HP:0032622)
Associated disease: VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE (OMIM:219730)
Gene: CRB2
Phenotype: Renal corticomedullary cysts (HP:0000108)
Associated disease: VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE (OMIM:219730)
Gene: CRB2
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: CRB2
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: CRB2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE (OMIM:219730)
Gene: CRB2
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE (OMIM:219730)
Gene: CRB2
Phenotype: Infantile onset (HP:0003593)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9 (OMIM:616220)
Gene: CRB2
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE (OMIM:219730)
Gene: CRB2
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: CRB2
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: CRB2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9 (OMIM:616220)
Gene: CRB2
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: CRB2
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: CRB2
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: CRB2
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: CRB2
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: CRB2
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: CRB2
Phenotype: Childhood onset (HP:0011463)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9 (OMIM:616220)
Gene: CRB2
Phenotype: Fetal onset (HP:0011461)
Associated disease: VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE (OMIM:219730)
Gene: CRB2
Phenotype: Elevated maternal circulating alpha-fetoprotein concentration (HP:0011432)
Associated disease: VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE (OMIM:219730)
Gene: CRB2
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE (OMIM:219730)
Gene: CRB2
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: CRB2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE (OMIM:219730)
Gene: CRB2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE (OMIM:219730)
Gene: CRB2
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: CRB2
Phenotype: Fetal pericardial effusion (HP:0025671)
Associated disease: VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE (OMIM:219730)
Gene: CRB2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE (OMIM:219730)
Gene: CRB2
Phenotype: Premature birth (HP:0001622)
Associated disease: VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE (OMIM:219730)
Gene: CRB2
Phenotype: Steroid-resistant nephrotic syndrome (HP:0012588)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9 (OMIM:616220)
Gene: CRB2
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: TPRN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 79 (OMIM:613307)
Gene: TPRN
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 79 (OMIM:613307)
Gene: TPRN
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 79 (OMIM:613307)
Gene: TPRN
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 79 (OMIM:613307)
Gene: ATP11C
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED (OMIM:301015)
Gene: ATP11C
Phenotype: Dark urine (HP:0040319)
Associated disease: HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED (OMIM:301015)
Gene: ATP11C
Phenotype: Congenital onset (HP:0003577)
Associated disease: HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED (OMIM:301015)
Gene: ATP11C
Phenotype: Jaundice (HP:0000952)
Associated disease: HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED (OMIM:301015)
Gene: ATP11C
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED (OMIM:301015)
Gene: CFAP47
Phenotype: Absent sperm flagella (HP:0032558)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 3 (OMIM:301059)
Gene: CFAP47
Phenotype: Short sperm flagella (HP:0032559)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 3 (OMIM:301059)
Gene: CFAP47
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 3 (OMIM:301059)
Gene: CFAP47
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 3 (OMIM:301059)
Gene: CFAP47
Phenotype: Irregularly shaped sperm tail (HP:0033393)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 3 (OMIM:301059)
Gene: CFAP47
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 3 (OMIM:301059)
Gene: CFAP47
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 3 (OMIM:301059)
Gene: CFAP47
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 3 (OMIM:301059)
Gene: ILDR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 42 (OMIM:609646)
Gene: ILDR1
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 42 (OMIM:609646)
Gene: ILDR1
Phenotype: Nonprogressive (HP:0003680)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 42 (OMIM:609646)
Gene: ILDR1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 42 (OMIM:609646)
Gene: KRT6C
Phenotype: Plantar hyperkeratosis (HP:0007556)
Associated disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE (OMIM:615735)
Gene: KRT6C
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE (OMIM:615735)
Gene: KRT6C
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE (OMIM:615735)
Gene: KRT6C
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE (OMIM:615735)
Gene: KRT6C
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE (OMIM:615735)
Gene: FAM149B1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: FAM149B1
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: FAM149B1
Phenotype: Syndactyly (HP:0001159)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: FAM149B1
Phenotype: Hypothalamic hamartoma (HP:0002444)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: FAM149B1
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: JOUBERT SYNDROME 36 (OMIM:618763)
Gene: FAM149B1
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)