TaoMedAI/RareMedData huggingface dataset:
Gene: LRAT
Phenotype: Visual impairment (HP:0000505)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LRAT
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: LRAT
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRAT
Phenotype: Exotropia (HP:0000577)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LRAT
Phenotype: Keratoconus (HP:0000563)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LRAT
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: LRAT
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: LEBER CONGENITAL AMAUROSIS 14 (OMIM:613341)
Gene: LRAT
Phenotype: Retinal detachment (HP:0000541)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LRAT
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LRAT
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LRAT
Phenotype: Undetectable electroretinogram (HP:0000550)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LRAT
Phenotype: Undetectable electroretinogram (HP:0000550)
Associated disease: LEBER CONGENITAL AMAUROSIS 14 (OMIM:613341)
Gene: LRAT
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: LRAT
Phenotype: Color vision defect (HP:0000551)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LRAT
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: LRAT
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LRAT
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: LRAT
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LRAT
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: LEBER CONGENITAL AMAUROSIS 14 (OMIM:613341)
Gene: LRAT
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LRAT
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRAT
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRAT
Phenotype: Myopia (HP:0000545)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: RAB11B
Phenotype: Tapered finger (HP:0001182)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Gait disturbance (HP:0001288)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Gait ataxia (HP:0002066)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Broad-based gait (HP:0002136)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Drooling (HP:0002307)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Optic atrophy (HP:0000648)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Happy demeanor (HP:0040082)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Prominent antihelix (HP:0000395)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Pes cavus (HP:0001761)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Overlapping toe (HP:0001845)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Visual impairment (HP:0000505)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: RAB11B
Phenotype: Hypermetropia (HP:0000540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Gene: DLG5
Phenotype: Split hand (HP:0001171)
Associated disease: YUKSEL-VOGEL-BAUER SYNDROME (OMIM:620703)
Gene: DLG5
Phenotype: Broad palm (HP:0001169)
Associated disease: YUKSEL-VOGEL-BAUER SYNDROME (OMIM:620703)
Gene: DLG5
Phenotype: Noncommunicating hydrocephalus (HP:0010953)
Associated disease: YUKSEL-VOGEL-BAUER SYNDROME (OMIM:620703)
Gene: DLG5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: YUKSEL-VOGEL-BAUER SYNDROME (OMIM:620703)
Gene: DLG5
Phenotype: Dystonia (HP:0001332)
Associated disease: YUKSEL-VOGEL-BAUER SYNDROME (OMIM:620703)
Gene: DLG5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: YUKSEL-VOGEL-BAUER SYNDROME (OMIM:620703)
Gene: DLG5
Phenotype: Communicating hydrocephalus (HP:0001334)
Associated disease: YUKSEL-VOGEL-BAUER SYNDROME (OMIM:620703)
Gene: DLG5
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: YUKSEL-VOGEL-BAUER SYNDROME (OMIM:620703)
Gene: DLG5
Phenotype: Cleft palate (HP:0000175)
Associated disease: YUKSEL-VOGEL-BAUER SYNDROME (OMIM:620703)
Gene: DLG5
Phenotype: Cleft lip (HP:0410030)
Associated disease: YUKSEL-VOGEL-BAUER SYNDROME (OMIM:620703)
Gene: DLG5
Phenotype: Renal salt wasting (HP:0000127)
Associated disease: YUKSEL-VOGEL-BAUER SYNDROME (OMIM:620703)
Gene: DLG5
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: YUKSEL-VOGEL-BAUER SYNDROME (OMIM:620703)
Gene: DLG5
Phenotype: Renal cortical hyperechogenicity (HP:0033132)
Associated disease: YUKSEL-VOGEL-BAUER SYNDROME (OMIM:620703)
Gene: DLG5
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: YUKSEL-VOGEL-BAUER SYNDROME (OMIM:620703)
Gene: DLG5
Phenotype: Congenital onset (HP:0003577)
Associated disease: YUKSEL-VOGEL-BAUER SYNDROME (OMIM:620703)
Gene: DLG5
Phenotype: Antenatal onset (HP:0030674)
Associated disease: YUKSEL-VOGEL-BAUER SYNDROME (OMIM:620703)
Gene: DLG5
Phenotype: Coarse facial features (HP:0000280)
Associated disease: YUKSEL-VOGEL-BAUER SYNDROME (OMIM:620703)
Gene: DLG5
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: YUKSEL-VOGEL-BAUER SYNDROME (OMIM:620703)
Gene: DLG5
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: YUKSEL-VOGEL-BAUER SYNDROME (OMIM:620703)
Gene: DLG5
Phenotype: Broad foot (HP:0001769)
Associated disease: YUKSEL-VOGEL-BAUER SYNDROME (OMIM:620703)
Gene: NOG
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Proximal symphalangism; Symphalangism, Cushing type (ORPHA:3250)
Gene: NOG
Phenotype: Brachydactyly (HP:0001156)
Associated disease: TARSAL-CARPAL COALITION SYNDROME (OMIM:186570)
Gene: NOG
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Symphalangism-brachydactyly syndrome; WL syndrome; Deafness-Hermann type symphalangism syndrome; Multiple synostoses syndrome; Facio-audio-symphalangism; Hearing loss-Hermann type symphalangism syndrome (ORPHA:3237)
Gene: NOG
Phenotype: Brachydactyly (HP:0001156)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Progressive conductive hearing impairment (HP:0008607)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Asymmetry of the mouth (HP:0009941)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES (OMIM:184460)
Gene: NOG
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Brachydactyly type B2 (ORPHA:140908)
Gene: NOG
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: BRACHYDACTYLY, TYPE B2 (OMIM:611377)
Gene: NOG
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOG
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOG
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Absent phalangeal crease (HP:0006109)
Associated disease: BRACHYDACTYLY, TYPE B2 (OMIM:611377)
Gene: NOG
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Proximal symphalangism; Symphalangism, Cushing type (ORPHA:3250)
Gene: NOG
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Brachydactyly type B2 (ORPHA:140908)
Gene: NOG
Phenotype: Absent proximal finger flexion creases (HP:0006077)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Distal symphalangism of hands (HP:0001204)
Associated disease: BRACHYDACTYLY, TYPE B2 (OMIM:611377)
Gene: NOG
Phenotype: Distal symphalangism of hands (HP:0001204)
Associated disease: TARSAL-CARPAL COALITION SYNDROME (OMIM:186570)
Gene: NOG
Phenotype: Distal symphalangism of hands (HP:0001204)
Associated disease: SYMPHALANGISM, PROXIMAL, 1A (OMIM:185800)
Gene: NOG
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOG
Phenotype: Waddling gait (HP:0002515)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Symphalangism-brachydactyly syndrome; WL syndrome; Deafness-Hermann type symphalangism syndrome; Multiple synostoses syndrome; Facio-audio-symphalangism; Hearing loss-Hermann type symphalangism syndrome (ORPHA:3237)
Gene: NOG
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOG
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Proximal symphalangism of hands (HP:0006152)
Associated disease: BRACHYDACTYLY, TYPE B2 (OMIM:611377)
Gene: NOG
Phenotype: Proximal symphalangism of hands (HP:0006152)
Associated disease: TARSAL-CARPAL COALITION SYNDROME (OMIM:186570)
Gene: NOG
Phenotype: Proximal symphalangism of hands (HP:0006152)
Associated disease: SYMPHALANGISM, PROXIMAL, 1A (OMIM:185800)
Gene: NOG
Phenotype: Progressive fusion 2nd-5th pip joints (HP:0006147)
Associated disease: TARSAL-CARPAL COALITION SYNDROME (OMIM:186570)
Gene: NOG
Phenotype: Abnormality of body height (HP:0000002)
Associated disease: TARSAL-CARPAL COALITION SYNDROME (OMIM:186570)
Gene: NOG
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOG
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SYMPHALANGISM, PROXIMAL, 1A (OMIM:185800)
Gene: NOG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRACHYDACTYLY, TYPE B2 (OMIM:611377)
Gene: NOG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES (OMIM:184460)
Gene: NOG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TARSAL-CARPAL COALITION SYNDROME (OMIM:186570)
Gene: NOG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOG
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOG
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOG
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: Symphalangism-brachydactyly syndrome; WL syndrome; Deafness-Hermann type symphalangism syndrome; Multiple synostoses syndrome; Facio-audio-symphalangism; Hearing loss-Hermann type symphalangism syndrome (ORPHA:3237)
Gene: NOG
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOG
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: TARSAL-CARPAL COALITION SYNDROME (OMIM:186570)
Gene: NOG
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: Proximal symphalangism; Symphalangism, Cushing type (ORPHA:3250)
Gene: NOG
Phenotype: Proximal/middle symphalangism of 4th finger (HP:0009477)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Spinal canal stenosis (HP:0003416)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: BRACHYDACTYLY, TYPE B2 (OMIM:611377)
Gene: NOG
Phenotype: Clinodactyly of the 4th toe (HP:0011918)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Proximal symphalangism; Symphalangism, Cushing type (ORPHA:3250)
Gene: NOG
Phenotype: Cutaneous finger syndactyly (HP:0010554)
Associated disease: BRACHYDACTYLY, TYPE B2 (OMIM:611377)
Gene: NOG
Phenotype: Cutaneous finger syndactyly (HP:0010554)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Proximal/middle symphalangism of 5th toe (HP:0100482)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Proximal/middle symphalangism of 4th toe (HP:0100481)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Symphalangism-brachydactyly syndrome; WL syndrome; Deafness-Hermann type symphalangism syndrome; Multiple synostoses syndrome; Facio-audio-symphalangism; Hearing loss-Hermann type symphalangism syndrome (ORPHA:3237)
Gene: NOG
Phenotype: Congenital onset (HP:0003577)
Associated disease: TARSAL-CARPAL COALITION SYNDROME (OMIM:186570)
Gene: NOG
Phenotype: Carpal synostosis (HP:0009702)
Associated disease: TARSAL-CARPAL COALITION SYNDROME (OMIM:186570)
Gene: NOG
Phenotype: Carpal synostosis (HP:0009702)
Associated disease: BRACHYDACTYLY, TYPE B2 (OMIM:611377)
Gene: NOG
Phenotype: Carpal synostosis (HP:0009702)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Carpal synostosis (HP:0009702)
Associated disease: SYMPHALANGISM, PROXIMAL, 1A (OMIM:185800)
Gene: NOG
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: TARSAL-CARPAL COALITION SYNDROME (OMIM:186570)
Gene: NOG
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: BRACHYDACTYLY, TYPE B2 (OMIM:611377)
Gene: NOG
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: Proximal symphalangism; Symphalangism, Cushing type (ORPHA:3250)
Gene: NOG
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: Tarsal-carpal coalition syndrome (ORPHA:1412)
Gene: NOG
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: SYMPHALANGISM, PROXIMAL, 1A (OMIM:185800)
Gene: NOG
Phenotype: Cutaneous syndactyly of toes (HP:0010621)
Associated disease: BRACHYDACTYLY, TYPE B2 (OMIM:611377)
Gene: NOG
Phenotype: Aplastic/hypoplastic toenail (HP:0010624)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Aplasia/Hypoplasia of the nails (HP:0008386)
Associated disease: BRACHYDACTYLY, TYPE B2 (OMIM:611377)
Gene: NOG
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOG
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)