TaoMedAI/RareMedData huggingface dataset:
Gene: DGAT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:615863)
Gene: DGAT1
Phenotype: Diarrhea (HP:0002014)
Associated disease: DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:615863)
Gene: DGAT1
Phenotype: Vomiting (HP:0002013)
Associated disease: DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:615863)
Gene: DGAT1
Phenotype: Abdominal colic (HP:0011848)
Associated disease: DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:615863)
Gene: DGAT1
Phenotype: Protein-losing enteropathy (HP:0002243)
Associated disease: DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:615863)
Gene: DGAT1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:615863)
Gene: DGAT1
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:615863)
Gene: DGAT1
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:615863)
Gene: DGAT1
Phenotype: Villous atrophy (HP:0011473)
Associated disease: DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:615863)
Gene: DGAT1
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:615863)
Gene: DGAT1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:615863)
Gene: DNAH11
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 7 (OMIM:611884)
Gene: DNAH11
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 7 (OMIM:611884)
Gene: DNAH11
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 7 (OMIM:611884)
Gene: DNAH11
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 7 (OMIM:611884)
Gene: DNAH11
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Cough (HP:0012735)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 7 (OMIM:611884)
Gene: DNAH11
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Childhood onset (HP:0011463)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 7 (OMIM:611884)
Gene: DNAH11
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Reduced FEV1/FVC ratio (HP:0030877)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 7 (OMIM:611884)
Gene: DNAH11
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Decreased nasal nitric oxide (HP:0033036)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 7 (OMIM:611884)
Gene: DNAH11
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Abnormal axonemal organization of respiratory motile cilia (HP:0012258)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 7 (OMIM:611884)
Gene: DNAH11
Phenotype: Ciliary dyskinesia (HP:0012265)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 7 (OMIM:611884)
Gene: DNAH11
Phenotype: Abnormal ciliary motility (HP:0012262)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 7 (OMIM:611884)
Gene: DNAH11
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 7 (OMIM:611884)
Gene: DNAH11
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 7 (OMIM:611884)
Gene: DNAH11
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Dextrocardia (HP:0001651)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 7 (OMIM:611884)
Gene: DNAH11
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 7 (OMIM:611884)
Gene: DNAH11
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH11
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SERPINB7
Phenotype: Hypergranulosis (HP:0025114)
Associated disease: PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE (OMIM:615598)
Gene: SERPINB7
Phenotype: Palmoplantar hyperhidrosis (HP:0007410)
Associated disease: PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE (OMIM:615598)
Gene: SERPINB7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE (OMIM:615598)
Gene: SERPINB7
Phenotype: Infantile onset (HP:0003593)
Associated disease: PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE (OMIM:615598)
Gene: SERPINB7
Phenotype: Congenital onset (HP:0003577)
Associated disease: PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE (OMIM:615598)
Gene: SERPINB7
Phenotype: Maceration (HP:0032007)
Associated disease: PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE (OMIM:615598)
Gene: SERPINB7
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE (OMIM:615598)
Gene: SERPINB7
Phenotype: Orthokeratotic hyperkeratosis (HP:0025080)
Associated disease: PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE (OMIM:615598)
Gene: SERPINB7
Phenotype: Neonatal onset (HP:0003623)
Associated disease: PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE (OMIM:615598)
Gene: SERPINB7
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE (OMIM:615598)
Gene: SERPINB7
Phenotype: Childhood onset (HP:0011463)
Associated disease: PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE (OMIM:615598)
Gene: SERPINB7
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: PPK, Nagashima type; Palmoplantar hyperkeratosis, Nagashima type; Palmoplantar keratoderma, Nagashima type (ORPHA:140966)
Gene: SERPINB7
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE (OMIM:615598)
Gene: SERPINB7
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: PPK, Nagashima type; Palmoplantar hyperkeratosis, Nagashima type; Palmoplantar keratoderma, Nagashima type (ORPHA:140966)
Gene: MBTPS1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE (OMIM:618392)
Gene: MBTPS1
Phenotype: Short femoral neck (HP:0100864)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE (OMIM:618392)
Gene: MBTPS1
Phenotype: Delayed ossification of carpal bones (HP:0001216)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE (OMIM:618392)
Gene: MBTPS1
Phenotype: Waddling gait (HP:0002515)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE (OMIM:618392)
Gene: MBTPS1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE (OMIM:618392)
Gene: MBTPS1
Phenotype: Spondyloepiphyseal dysplasia (HP:0002655)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE (OMIM:618392)
Gene: MBTPS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE (OMIM:618392)
Gene: MBTPS1
Phenotype: Elevated circulating beta-glucuronidase activity (HP:6000819)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE (OMIM:618392)
Gene: MBTPS1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE (OMIM:618392)
Gene: MBTPS1
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE (OMIM:618392)
Gene: MBTPS1
Phenotype: Decreased body weight (HP:0004325)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE (OMIM:618392)
Gene: MBTPS1
Phenotype: Short stature (HP:0004322)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE (OMIM:618392)
Gene: MBTPS1
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE (OMIM:618392)
Gene: MBTPS1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE (OMIM:618392)
Gene: MBTPS1
Phenotype: Kyphosis (HP:0002808)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE (OMIM:618392)
Gene: MBTPS1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE (OMIM:618392)
Gene: MBTPS1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE (OMIM:618392)
Gene: MBTPS1
Phenotype: Macrotia (HP:0000400)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE (OMIM:618392)
Gene: MBTPS1
Phenotype: Cataract (HP:0000518)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE (OMIM:618392)
Gene: MBTPS1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE (OMIM:618392)
Gene: CTSF
Phenotype: Primitive reflex (HP:0002476)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13 (OMIM:615362)
Gene: CTSF
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13 (OMIM:615362)
Gene: CTSF
Phenotype: Mental deterioration (HP:0001268)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13 (OMIM:615362)
Gene: CTSF
Phenotype: Confusion (HP:0001289)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13 (OMIM:615362)
Gene: CTSF
Phenotype: Seizure (HP:0001250)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13 (OMIM:615362)
Gene: CTSF
Phenotype: Ataxia (HP:0001251)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13 (OMIM:615362)
Gene: CTSF
Phenotype: Dysarthria (HP:0001260)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13 (OMIM:615362)
Gene: CTSF
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13 (OMIM:615362)
Gene: CTSF
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13 (OMIM:615362)
Gene: CTSF
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13 (OMIM:615362)
Gene: CTSF
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13 (OMIM:615362)
Gene: CTSF
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13 (OMIM:615362)
Gene: CTSF
Phenotype: Tremor (HP:0001337)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13 (OMIM:615362)
Gene: CTSF
Phenotype: Myoclonus (HP:0001336)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13 (OMIM:615362)
Gene: CTSF
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13 (OMIM:615362)
Gene: CTSF
Phenotype: Gait ataxia (HP:0002066)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13 (OMIM:615362)
Gene: CTSF
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13 (OMIM:615362)
Gene: CTSF
Phenotype: Babinski sign (HP:0003487)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13 (OMIM:615362)
Gene: CTSF
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13 (OMIM:615362)
Gene: CTSF
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13 (OMIM:615362)
Gene: CTSF
Phenotype: Progressive (HP:0003676)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13 (OMIM:615362)
Gene: CTSF
Phenotype: Depression (HP:0000716)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13 (OMIM:615362)
Gene: CTSF
Phenotype: Emotional lability (HP:0000712)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13 (OMIM:615362)
Gene: CTSF
Phenotype: Dementia (HP:0000726)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13 (OMIM:615362)
Gene: CTSF
Phenotype: Young adult onset (HP:0011462)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13 (OMIM:615362)
Gene: EED
Phenotype: Large hands (HP:0001176)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Long fingers (HP:0100807)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Gait disturbance (HP:0001288)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Seizure (HP:0001250)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Intellectual disability (HP:0001249)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Tall stature (HP:0000098)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Flexion contracture (HP:0001371)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Coxa valga (HP:0002673)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Scoliosis (HP:0002650)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Chin with horizontal crease (HP:0011823)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Congenital onset (HP:0003577)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Poor coordination (HP:0002370)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Broad thumb (HP:0011304)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Long ear (HP:0400004)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Osteopenia (HP:0000938)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Epicanthus (HP:0000286)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Retrognathia (HP:0000278)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Macrocephaly (HP:0000256)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Overgrowth (HP:0001548)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Hypoplastic iliac wing (HP:0002866)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Camptodactyly (HP:0012385)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Low-set ears (HP:0000369)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Broad forehead (HP:0000337)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Hypertelorism (HP:0000316)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Round face (HP:0000311)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Macrotia (HP:0000400)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Small nail (HP:0001792)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Cataract (HP:0000518)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Ptosis (HP:0000508)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Long foot (HP:0001833)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Thin nail (HP:0001816)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: EED
Phenotype: Myopia (HP:0000545)
Associated disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Gene: GBF1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A (OMIM:606483)
Gene: GBF1
Phenotype: Motor delay (HP:0001270)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A (OMIM:606483)
Gene: GBF1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A (OMIM:606483)
Gene: GBF1
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A (OMIM:606483)
Gene: GBF1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A (OMIM:606483)
Gene: GBF1
Phenotype: Dysarthria (HP:0001260)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A (OMIM:606483)
Gene: GBF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A (OMIM:606483)
Gene: GBF1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A (OMIM:606483)
Gene: GBF1
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A (OMIM:606483)
Gene: GBF1
Phenotype: Axonal degeneration/regeneration (HP:0003378)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A (OMIM:606483)
Gene: GBF1
Phenotype: Steppage gait (HP:0003376)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A (OMIM:606483)
Gene: GBF1
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A (OMIM:606483)
Gene: GBF1
Phenotype: Segmental peripheral demyelination/remyelination (HP:0003481)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A (OMIM:606483)
Gene: GBF1
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A (OMIM:606483)
Gene: GBF1
Phenotype: Middle age onset (HP:0003596)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A (OMIM:606483)
Gene: GBF1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A (OMIM:606483)