TaoMedAI/RareMedData huggingface dataset:
Gene: KIAA0753
Phenotype: Posteriorly rotated ears (HP:0000358)
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: KIAA0753
Phenotype: Low-set ears (HP:0000369)
Associated disease: JOUBERT SYNDROME 38 (OMIM:619476)
Gene: KIAA0753
Phenotype: Low-set ears (HP:0000369)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
Phenotype: Low-set ears (HP:0000369)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KIAA0753
Phenotype: Low-set ears (HP:0000369)
Associated disease: OROFACIODIGITAL SYNDROME XV (OMIM:617127)
Gene: KIAA0753
Phenotype: Long philtrum (HP:0000343)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0753
Phenotype: Micrognathia (HP:0000347)
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: KIAA0753
Phenotype: Micromelia (HP:0002983)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: KIAA0753
Phenotype: Hypertelorism (HP:0000316)
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: KIAA0753
Phenotype: Hypertelorism (HP:0000316)
Associated disease: OROFACIODIGITAL SYNDROME XV (OMIM:617127)
Gene: KIAA0753
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Abnormal heart morphology (HP:0001627)
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: KIAA0753
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0753
Phenotype: Conductive hearing impairment (HP:0000405)
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: KIAA0753
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Strabismus (HP:0000486)
Associated disease: JOUBERT SYNDROME 38 (OMIM:619476)
Gene: KIAA0753
Phenotype: Strabismus (HP:0000486)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KIAA0753
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KIAA0753
Phenotype: Anteverted nares (HP:0000463)
Associated disease: OROFACIODIGITAL SYNDROME XV (OMIM:617127)
Gene: KIAA0753
Phenotype: Broad nasal tip (HP:0000455)
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: KIAA0753
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: KIAA0753
Phenotype: Short foot (HP:0001773)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: KIAA0753
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: OROFACIODIGITAL SYNDROME XV (OMIM:617127)
Gene: KIAA0753
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KIAA0753
Phenotype: Prominent nasal bridge (HP:0000426)
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: KIAA0753
Phenotype: Aplasia/Hypoplasia of the lungs (HP:0006703)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: KIAA0753
Phenotype: Small pituitary gland (HP:0012506)
Associated disease: JOUBERT SYNDROME 38 (OMIM:619476)
Gene: KIAA0753
Phenotype: Small pituitary gland (HP:0012506)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0753
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KIAA0753
Phenotype: Foot polydactyly (HP:0001829)
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: KIAA0753
Phenotype: Ptosis (HP:0000508)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KIAA0753
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: KIAA0753
Phenotype: Decreased serum insulin-like growth factor 1 (HP:0030353)
Associated disease: JOUBERT SYNDROME 38 (OMIM:619476)
Gene: KIAA0753
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Prominent forehead (HP:0011220)
Associated disease: JOUBERT SYNDROME 38 (OMIM:619476)
Gene: KIAA0753
Phenotype: Esotropia (HP:0000565)
Associated disease: JOUBERT SYNDROME 38 (OMIM:619476)
Gene: KIAA0753
Phenotype: Esotropia (HP:0000565)
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: KIAA0753
Phenotype: Hypermetropia (HP:0000540)
Associated disease: JOUBERT SYNDROME 38 (OMIM:619476)
Gene: KIAA0753
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RUSC2
Phenotype: Tapered finger (HP:0001182)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Long fingers (HP:0100807)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Motor delay (HP:0001270)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Spasticity (HP:0001257)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Thick hair (HP:0100874)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Dysmetria (HP:0001310)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Scoliosis (HP:0002650)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Babinski sign (HP:0003487)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Clonus (HP:0002169)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Congenital onset (HP:0003577)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Unsteady gait (HP:0002317)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Atonic seizure (HP:0010819)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Conical tooth (HP:0000698)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Synophrys (HP:0000664)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Long face (HP:0000276)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: High palate (HP:0000218)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Low-set ears (HP:0000369)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Tonic seizure (HP:0032792)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Infantile spasms (HP:0012469)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Brain atrophy (HP:0012444)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Prominent nose (HP:0000448)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Pes cavus (HP:0001761)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Long eyelashes (HP:0000527)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: RUSC2
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Gene: LRIG2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: UROFACIAL SYNDROME 2 (OMIM:615112)
Gene: LRIG2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Partial facial palsy with urinary abnormalities; Urofacial syndrome; Ochoa facial syndrome; Inverted smile-neurogenic bladder syndrome; Hydronephrosis-inverted smile syndrome; Ochoa syndrome (ORPHA:2704)
Gene: LRIG2
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: UROFACIAL SYNDROME 2 (OMIM:615112)
Gene: LRIG2
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Partial facial palsy with urinary abnormalities; Urofacial syndrome; Ochoa facial syndrome; Inverted smile-neurogenic bladder syndrome; Hydronephrosis-inverted smile syndrome; Ochoa syndrome (ORPHA:2704)
Gene: LRIG2
Phenotype: Megacystis (HP:0000021)
Associated disease: UROFACIAL SYNDROME 2 (OMIM:615112)
Gene: LRIG2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Partial facial palsy with urinary abnormalities; Urofacial syndrome; Ochoa facial syndrome; Inverted smile-neurogenic bladder syndrome; Hydronephrosis-inverted smile syndrome; Ochoa syndrome (ORPHA:2704)
Gene: LRIG2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Partial facial palsy with urinary abnormalities; Urofacial syndrome; Ochoa facial syndrome; Inverted smile-neurogenic bladder syndrome; Hydronephrosis-inverted smile syndrome; Ochoa syndrome (ORPHA:2704)
Gene: LRIG2
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: UROFACIAL SYNDROME 2 (OMIM:615112)
Gene: LRIG2
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Partial facial palsy with urinary abnormalities; Urofacial syndrome; Ochoa facial syndrome; Inverted smile-neurogenic bladder syndrome; Hydronephrosis-inverted smile syndrome; Ochoa syndrome (ORPHA:2704)
Gene: LRIG2
Phenotype: Urinary urgency (HP:0000012)
Associated disease: UROFACIAL SYNDROME 2 (OMIM:615112)
Gene: LRIG2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: UROFACIAL SYNDROME 2 (OMIM:615112)
Gene: LRIG2
Phenotype: Bladder trabeculation (HP:0032465)
Associated disease: UROFACIAL SYNDROME 2 (OMIM:615112)
Gene: LRIG2
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: Partial facial palsy with urinary abnormalities; Urofacial syndrome; Ochoa facial syndrome; Inverted smile-neurogenic bladder syndrome; Hydronephrosis-inverted smile syndrome; Ochoa syndrome (ORPHA:2704)
Gene: LRIG2
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: UROFACIAL SYNDROME 2 (OMIM:615112)
Gene: LRIG2
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Partial facial palsy with urinary abnormalities; Urofacial syndrome; Ochoa facial syndrome; Inverted smile-neurogenic bladder syndrome; Hydronephrosis-inverted smile syndrome; Ochoa syndrome (ORPHA:2704)
Gene: LRIG2
Phenotype: Constipation (HP:0002019)
Associated disease: UROFACIAL SYNDROME 2 (OMIM:615112)
Gene: LRIG2
Phenotype: Constipation (HP:0002019)
Associated disease: Partial facial palsy with urinary abnormalities; Urofacial syndrome; Ochoa facial syndrome; Inverted smile-neurogenic bladder syndrome; Hydronephrosis-inverted smile syndrome; Ochoa syndrome (ORPHA:2704)
Gene: LRIG2
Phenotype: Infantile onset (HP:0003593)
Associated disease: UROFACIAL SYNDROME 2 (OMIM:615112)
Gene: LRIG2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: UROFACIAL SYNDROME 2 (OMIM:615112)
Gene: LRIG2
Phenotype: Polydipsia (HP:0001959)
Associated disease: Partial facial palsy with urinary abnormalities; Urofacial syndrome; Ochoa facial syndrome; Inverted smile-neurogenic bladder syndrome; Hydronephrosis-inverted smile syndrome; Ochoa syndrome (ORPHA:2704)
Gene: LRIG2
Phenotype: Enuresis (HP:0000805)
Associated disease: UROFACIAL SYNDROME 2 (OMIM:615112)
Gene: LRIG2
Phenotype: Childhood onset (HP:0011463)
Associated disease: UROFACIAL SYNDROME 2 (OMIM:615112)
Gene: LRIG2
Phenotype: Urethral obstruction (HP:0000796)
Associated disease: Partial facial palsy with urinary abnormalities; Urofacial syndrome; Ochoa facial syndrome; Inverted smile-neurogenic bladder syndrome; Hydronephrosis-inverted smile syndrome; Ochoa syndrome (ORPHA:2704)
Gene: LRIG2
Phenotype: Hypertension (HP:0000822)
Associated disease: Partial facial palsy with urinary abnormalities; Urofacial syndrome; Ochoa facial syndrome; Inverted smile-neurogenic bladder syndrome; Hydronephrosis-inverted smile syndrome; Ochoa syndrome (ORPHA:2704)
Gene: LRIG2
Phenotype: Facial grimacing (HP:0000273)
Associated disease: UROFACIAL SYNDROME 2 (OMIM:615112)
Gene: LRIG2
Phenotype: Spastic/hyperactive bladder (HP:0005340)
Associated disease: UROFACIAL SYNDROME 2 (OMIM:615112)
Gene: MAGI2
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: MAGI2
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHROTIC SYNDROME, TYPE 15 (OMIM:617609)
Gene: MAGI2
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: MAGI2
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: MAGI2
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: MAGI2
Phenotype: Proteinuria (HP:0000093)
Associated disease: NEPHROTIC SYNDROME, TYPE 15 (OMIM:617609)
Gene: MAGI2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHROTIC SYNDROME, TYPE 15 (OMIM:617609)
Gene: MAGI2
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: MAGI2
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: MAGI2
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEPHROTIC SYNDROME, TYPE 15 (OMIM:617609)
Gene: MAGI2
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: MAGI2
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: MAGI2
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: MAGI2
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: MAGI2
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: MAGI2
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: MAGI2
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: NEPHROTIC SYNDROME, TYPE 15 (OMIM:617609)