TaoMedAI/RareMedData huggingface dataset:
Gene: COLEC11
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC11
Phenotype: Low-set ears (HP:0000369)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC11
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COLEC11
Phenotype: Broad forehead (HP:0000337)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Limited elbow movement (HP:0002996)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Hypertelorism (HP:0000316)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC11
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC11
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COLEC11
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Strabismus (HP:0000486)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC11
Phenotype: Torticollis (HP:0000473)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Depressed nasal tip (HP:0000437)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COLEC11
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Telecanthus (HP:0000506)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC11
Phenotype: Ptosis (HP:0000508)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Ptosis (HP:0000508)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC11
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC11
Phenotype: Abnormal anterior chamber morphology (HP:0000593)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC11
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Epicanthus inversus (HP:0000537)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Epicanthus inversus (HP:0000537)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC11
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HROB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease:  (OMIM:620897)
Gene: HROB
Phenotype: Decreased circulating antimullerian hormone circulation (HP:0031103)
Associated disease:  (OMIM:620897)
Gene: HROB
Phenotype: Aplasia of the ovary (HP:0010463)
Associated disease:  (OMIM:620897)
Gene: HROB
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease:  (OMIM:620897)
Gene: HROB
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease:  (OMIM:620897)
Gene: HROB
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease:  (OMIM:620897)
Gene: HROB
Phenotype: Juvenile onset (HP:0003621)
Associated disease:  (OMIM:620897)
Gene: HROB
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease:  (OMIM:620897)
Gene: HROB
Phenotype: Delayed puberty (HP:0000823)
Associated disease:  (OMIM:620897)
Gene: HROB
Phenotype: Early young adult onset (HP:0025708)
Associated disease:  (OMIM:620897)
Gene: HROB
Phenotype: Delayed menarche (HP:0012569)
Associated disease:  (OMIM:620897)
Gene: VKORC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 (OMIM:607473)
Gene: VKORC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COUMARIN RESISTANCE (OMIM:122700)
Gene: VKORC1
Phenotype: Reduced factor VII activity (HP:0008169)
Associated disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 (OMIM:607473)
Gene: VKORC1
Phenotype: Reduced factor IX activity (HP:0011858)
Associated disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 (OMIM:607473)
Gene: VKORC1
Phenotype: Reduced factor X activity (HP:0008321)
Associated disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 (OMIM:607473)
Gene: VKORC1
Phenotype: Reduced prothrombin antigen (HP:0040250)
Associated disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 (OMIM:607473)
Gene: VKORC1
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 (OMIM:607473)
Gene: VKORC1
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: COUMARIN RESISTANCE (OMIM:122700)
Gene: SCNM1
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Midline notching of lower lip (HP:6000569)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Underfolded helix (HP:0008577)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Narrow palate (HP:0000189)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Cleft soft palate (HP:0000185)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Lobulated tongue (HP:0000180)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Tongue nodules (HP:0000199)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Accessory oral frenulum (HP:0000191)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Short columella (HP:0002000)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Chin with horizontal crease (HP:0011823)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Congenital onset (HP:0003577)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Broad hallux (HP:0010055)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Microdontia (HP:0000691)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Carious teeth (HP:0000670)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Hypodontia (HP:0000668)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Type A brachydactyly (HP:0009370)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Epicanthus (HP:0000286)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Retrognathia (HP:0000278)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: High palate (HP:0000218)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Cupped ear (HP:0000378)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Low-set ears (HP:0000369)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Broad forehead (HP:0000337)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: High forehead (HP:0000348)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Strabismus (HP:0000486)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Bifid nasal tip (HP:0000456)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: SCNM1
Phenotype: Additional crus of antihelix (HP:0011235)
Associated disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Gene: NUP37
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: NUP37
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NUP37
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NUP37
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: NUP37
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:618179)
Gene: NUP37
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NUP37
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NUP37
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: NUP37
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: NUP37
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NUP37
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NUP37
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:618179)
Gene: NUP37
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NUP37
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:618179)
Gene: NUP37
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NUP37
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: NUP37
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: NUP37
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NUP37
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:618179)
Gene: NUP37
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NUP37
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: NUP37
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: NUP37
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:618179)
Gene: NUP37
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: NUP37
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: NUP37
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: NUP37
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NUP37
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: NUP37
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: NUP37
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: NUP37
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:618179)
Gene: NUP37
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NUP37
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: NUP37
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NUP37
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NUP37
Phenotype: Growth delay (HP:0001510)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NUP37
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: NUP37
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NUP37
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: NUP37
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: AFG2B
Phenotype: Enlarged sylvian cistern (HP:0100952)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY (OMIM:619616)
Gene: AFG2B
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY (OMIM:619616)
Gene: AFG2B
Phenotype: Seizure (HP:0001250)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 119 (OMIM:619615)
Gene: AFG2B
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY (OMIM:619616)
Gene: AFG2B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY (OMIM:619616)
Gene: AFG2B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 119 (OMIM:619615)
Gene: AFG2B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY (OMIM:619616)
Gene: AFG2B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 119 (OMIM:619615)
Gene: AFG2B
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY (OMIM:619616)
Gene: AFG2B
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY (OMIM:619616)
Gene: AFG2B
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY (OMIM:619616)
Gene: AFG2B
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY (OMIM:619616)
Gene: AFG2B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY (OMIM:619616)
Gene: AFG2B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 119 (OMIM:619615)
Gene: AFG2B
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY (OMIM:619616)
Gene: AFG2B
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY (OMIM:619616)
Gene: AFG2B
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY (OMIM:619616)
Gene: AFG2B
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY (OMIM:619616)
Gene: AFG2B
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY (OMIM:619616)
Gene: AFG2B
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 119 (OMIM:619615)
Gene: AFG2B
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY (OMIM:619616)
Gene: AFG2B
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY (OMIM:619616)
Gene: AFG2B
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 119 (OMIM:619615)
Gene: AFG2B
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY (OMIM:619616)