TaoMedAI/RareMedData huggingface dataset:
Gene: NOG
Phenotype: Aplasia/Hypoplasia of the middle phalanges of the hand (HP:0009843)
Associated disease: BRACHYDACTYLY, TYPE B2 (OMIM:611377)
Gene: NOG
Phenotype: Aplasia/Hypoplasia of the middle phalanges of the hand (HP:0009843)
Associated disease: SYMPHALANGISM, PROXIMAL, 1A (OMIM:185800)
Gene: NOG
Phenotype: Bilateral conductive hearing impairment (HP:0008513)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Aplasia/Hypoplasia of the distal phalanges of the hand (HP:0009835)
Associated disease: BRACHYDACTYLY, TYPE B2 (OMIM:611377)
Gene: NOG
Phenotype: Lower limb undergrowth (HP:0009816)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Hypoplastic spinal processes (HP:0008460)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Symphalangism affecting the phalanges of the hand (HP:0009773)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Symphalangism affecting the phalanges of the hand (HP:0009773)
Associated disease: Brachydactyly type B2 (ORPHA:140908)
Gene: NOG
Phenotype: Symphalangism affecting the phalanges of the hand (HP:0009773)
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: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOG
Phenotype: Low hanging columella (HP:0009765)
Associated disease: STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES (OMIM:184460)
Gene: NOG
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOG
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOG
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Proximal symphalangism; Symphalangism, Cushing type (ORPHA:3250)
Gene: NOG
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Short palm (HP:0004279)
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: Short middle phalanx of the 5th finger (HP:0004220)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOG
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOG
Phenotype: Amblyopia (HP:0000646)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOG
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Short 5th metacarpal (HP:0010047)
Associated disease: SYMPHALANGISM, PROXIMAL, 1A (OMIM:185800)
Gene: NOG
Phenotype: Broad hallux (HP:0010055)
Associated disease: STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES (OMIM:184460)
Gene: NOG
Phenotype: Short 1st metacarpal (HP:0010034)
Associated disease: TARSAL-CARPAL COALITION SYNDROME (OMIM:186570)
Gene: NOG
Phenotype: Short 1st metacarpal (HP:0010034)
Associated disease: BRACHYDACTYLY, TYPE B2 (OMIM:611377)
Gene: NOG
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOG
Phenotype: Broad thumb (HP:0011304)
Associated disease: STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES (OMIM:184460)
Gene: NOG
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Broad thumb (HP:0011304)
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: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Short stature (HP:0004322)
Associated disease: Tarsal-carpal coalition syndrome (ORPHA:1412)
Gene: NOG
Phenotype: Aplasia/Hypoplasia of the middle phalanges of the toes (HP:0010194)
Associated disease: BRACHYDACTYLY, TYPE B2 (OMIM:611377)
Gene: NOG
Phenotype: Aplasia/Hypoplasia of the middle phalanges of the toes (HP:0010194)
Associated disease: SYMPHALANGISM, PROXIMAL, 1A (OMIM:185800)
Gene: NOG
Phenotype: Aplasia/Hypoplasia of the distal phalanges of the toes (HP:0010185)
Associated disease: BRACHYDACTYLY, TYPE B2 (OMIM:611377)
Gene: NOG
Phenotype: Elbow ankylosis (HP:0003070)
Associated disease: Proximal symphalangism; Symphalangism, Cushing type (ORPHA:3250)
Gene: NOG
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOG
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOG
Phenotype: Abnormality of the ankle (HP:0003028)
Associated disease: Tarsal-carpal coalition syndrome (ORPHA:1412)
Gene: NOG
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: Proximal symphalangism; Symphalangism, Cushing type (ORPHA:3250)
Gene: NOG
Phenotype: Humeroradial synostosis (HP:0003041)
Associated disease: TARSAL-CARPAL COALITION SYNDROME (OMIM:186570)
Gene: NOG
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Abnormality of the wrist (HP:0003019)
Associated disease: Proximal symphalangism; Symphalangism, Cushing type (ORPHA:3250)
Gene: NOG
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Proximal/middle symphalangism of 5th finger (HP:0009177)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Proximal/middle symphalangism of 5th finger (HP:0009177)
Associated disease: STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES (OMIM:184460)
Gene: NOG
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Short hallux (HP:0010109)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Enlargement of the costochondral junction (HP:0000920)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Long nose (HP:0003189)
Associated disease: STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES (OMIM:184460)
Gene: NOG
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Short humerus (HP:0005792)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOG
Phenotype: Short sternum (HP:0000879)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Short middle phalanx of the 5th toe (HP:0100394)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOG
Phenotype: Finger clinodactyly (HP:0040019)
Associated disease: Proximal symphalangism; Symphalangism, Cushing type (ORPHA:3250)
Gene: NOG
Phenotype: Short middle phalanx of the 4th finger (HP:0009295)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Metacarpophalangeal synostosis (HP:0005880)
Associated disease: Proximal symphalangism; Symphalangism, Cushing type (ORPHA:3250)
Gene: NOG
Phenotype: Metacarpophalangeal synostosis (HP:0005880)
Associated disease: SYMPHALANGISM, PROXIMAL, 1A (OMIM:185800)
Gene: NOG
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOG
Phenotype: Type B brachydactyly (HP:0005831)
Associated disease: Brachydactyly type B2 (ORPHA:140908)
Gene: NOG
Phenotype: Proximal symphalangism (HP:0100264)
Associated disease: Proximal symphalangism; Symphalangism, Cushing type (ORPHA:3250)
Gene: NOG
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Absent distal phalanges (HP:0005807)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Short finger (HP:0009381)
Associated disease: TARSAL-CARPAL COALITION SYNDROME (OMIM:186570)
Gene: NOG
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Abnormal nail morphology (HP:0001597)
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: Narrow face (HP:0000275)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Hypoplastic nasal septum (HP:0005104)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Clinodactyly (HP:0030084)
Associated disease: TARSAL-CARPAL COALITION SYNDROME (OMIM:186570)
Gene: NOG
Phenotype: Short lower limbs (HP:0006385)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Synostosis of carpal bones (HP:0005048)
Associated disease: Proximal symphalangism; Symphalangism, Cushing type (ORPHA:3250)
Gene: NOG
Phenotype: Synostosis of carpal bones (HP:0005048)
Associated disease: Brachydactyly type B2 (ORPHA:140908)
Gene: NOG
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOG
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOG
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOG
Phenotype: Stapes ankylosis (HP:0000381)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Stapes ankylosis (HP:0000381)
Associated disease: STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES (OMIM:184460)
Gene: NOG
Phenotype: Stapes ankylosis (HP:0000381)
Associated disease: SYMPHALANGISM, PROXIMAL, 1A (OMIM:185800)
Gene: NOG
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Fused cervical vertebrae (HP:0002949)
Associated disease: STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES (OMIM:184460)
Gene: NOG
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOG
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: TARSAL-CARPAL COALITION SYNDROME (OMIM:186570)
Gene: NOG
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOG
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Short philtrum (HP:0000322)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Facial asymmetry (HP:0000324)
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: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: TARSAL-CARPAL COALITION SYNDROME (OMIM:186570)
Gene: NOG
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOG
Phenotype: Congenital stapes ankylosis (HP:0007943)
Associated disease: STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES (OMIM:184460)
Gene: NOG
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Proximal symphalangism; Symphalangism, Cushing type (ORPHA:3250)
Gene: NOG
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BRACHYDACTYLY, TYPE B2 (OMIM:611377)
Gene: NOG
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: SYMPHALANGISM, PROXIMAL, 1A (OMIM:185800)
Gene: NOG
Phenotype: Conductive hearing impairment (HP:0000405)
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: Conductive hearing impairment (HP:0000405)
Associated disease: STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES (OMIM:184460)
Gene: NOG
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Astigmatism (HP:0000483)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Strabismus (HP:0000486)
Associated disease: Proximal symphalangism; Symphalangism, Cushing type (ORPHA:3250)
Gene: NOG
Phenotype: Strabismus (HP:0000486)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Limited neck range of motion (HP:0000466)
Associated disease: STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES (OMIM:184460)
Gene: NOG
Phenotype: Anonychia (HP:0001798)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES (OMIM:184460)
Gene: NOG
Phenotype: Short foot (HP:0001773)
Associated disease: Brachydactyly type B2 (ORPHA:140908)
Gene: NOG
Phenotype: Short foot (HP:0001773)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES (OMIM:184460)
Gene: NOG
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Short distal phalanx of toe (HP:0001857)
Associated disease: Brachydactyly type B2 (ORPHA:140908)
Gene: NOG
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOG
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Ptosis (HP:0000508)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Short toe (HP:0001831)
Associated disease: Brachydactyly type B2 (ORPHA:140908)
Gene: NOG
Phenotype: Absent fingernail (HP:0001817)
Associated disease: Brachydactyly type B2 (ORPHA:140908)
Gene: NOG
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Hypermetropia (HP:0000540)
Associated disease: BRACHYDACTYLY, TYPE B2 (OMIM:611377)
Gene: NOG
Phenotype: Hypermetropia (HP:0000540)
Associated disease: STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES (OMIM:184460)
Gene: NOG
Phenotype: Hypermetropia (HP:0000540)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Gene: NOG
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOG
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRLF1
Phenotype: Tapered finger (HP:0001182)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Hypertonia (HP:0001276)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CRLF1
Phenotype: Seizure (HP:0001250)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Seizure (HP:0001250)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CRLF1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Decreased circulating prealbumin concentration (HP:0031085)
Associated disease: Idiopathic achalasia; Achalasia cardia; Primary achalasia; Idiopathic achalasia of esophagus (ORPHA:930)
Gene: CRLF1
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CRLF1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CRLF1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CRLF1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CRLF1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Idiopathic achalasia; Achalasia cardia; Primary achalasia; Idiopathic achalasia of esophagus (ORPHA:930)
Gene: CRLF1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Idiopathic achalasia; Achalasia cardia; Primary achalasia; Idiopathic achalasia of esophagus (ORPHA:930)
Gene: CRLF1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CRLF1
Phenotype: Dyspnea (HP:0002094)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CRLF1
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CRLF1
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Recurrent aspiration pneumonia (HP:0002100)
Associated disease: Idiopathic achalasia; Achalasia cardia; Primary achalasia; Idiopathic achalasia of esophagus (ORPHA:930)
Gene: CRLF1
Phenotype: Opisthotonus (HP:0002179)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CRLF1
Phenotype: Large face (HP:0100729)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Large face (HP:0100729)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CRLF1
Phenotype: Chest pain (HP:0100749)
Associated disease: Idiopathic achalasia; Achalasia cardia; Primary achalasia; Idiopathic achalasia of esophagus (ORPHA:930)
Gene: CRLF1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CRLF1
Phenotype: Facial palsy (HP:0010628)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Short palm (HP:0004279)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Recurrent fever (HP:0001954)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Malnutrition (HP:0004395)
Associated disease: Idiopathic achalasia; Achalasia cardia; Primary achalasia; Idiopathic achalasia of esophagus (ORPHA:930)
Gene: CRLF1
Phenotype: Cough (HP:0012735)
Associated disease: Idiopathic achalasia; Achalasia cardia; Primary achalasia; Idiopathic achalasia of esophagus (ORPHA:930)