TaoMedAI/RareMedData huggingface dataset:
Gene: PSAT1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: NEU-LAXOVA SYNDROME 2 (OMIM:616038)
Gene: PSAT1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Ablepharon (HP:0011224)
Associated disease: NEU-LAXOVA SYNDROME 2 (OMIM:616038)
Gene: PSAT1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MDFIC
Phenotype: Neonatal death (HP:0003811)
Associated disease: LYMPHATIC MALFORMATION 12 (OMIM:620014)
Gene: MDFIC
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: LYMPHATIC MALFORMATION 12 (OMIM:620014)
Gene: MDFIC
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: LYMPHATIC MALFORMATION 12 (OMIM:620014)
Gene: MDFIC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LYMPHATIC MALFORMATION 12 (OMIM:620014)
Gene: MDFIC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MDFIC
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: LYMPHATIC MALFORMATION 12 (OMIM:620014)
Gene: MDFIC
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MDFIC
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MDFIC
Phenotype: Congenital onset (HP:0003577)
Associated disease: LYMPHATIC MALFORMATION 12 (OMIM:620014)
Gene: MDFIC
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MDFIC
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MDFIC
Phenotype: Recurrent upper and lower respiratory tract infections (HP:0200117)
Associated disease: LYMPHATIC MALFORMATION 12 (OMIM:620014)
Gene: MDFIC
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MDFIC
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHATIC MALFORMATION 12 (OMIM:620014)
Gene: MDFIC
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MDFIC
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MDFIC
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MDFIC
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MDFIC
Phenotype: Pleural thickening (HP:0031944)
Associated disease: LYMPHATIC MALFORMATION 12 (OMIM:620014)
Gene: MDFIC
Phenotype: Third trimester onset (HP:0034197)
Associated disease: LYMPHATIC MALFORMATION 12 (OMIM:620014)
Gene: MDFIC
Phenotype: Second trimester onset (HP:0034198)
Associated disease: LYMPHATIC MALFORMATION 12 (OMIM:620014)
Gene: MDFIC
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MDFIC
Phenotype: Death in adolescence (HP:0011421)
Associated disease: LYMPHATIC MALFORMATION 12 (OMIM:620014)
Gene: MDFIC
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MDFIC
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MDFIC
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: LYMPHATIC MALFORMATION 12 (OMIM:620014)
Gene: MDFIC
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MDFIC
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MDFIC
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: LYMPHATIC MALFORMATION 12 (OMIM:620014)
Gene: MDFIC
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MDFIC
Phenotype: Fetal chylothorax (HP:0025677)
Associated disease: LYMPHATIC MALFORMATION 12 (OMIM:620014)
Gene: MDFIC
Phenotype: Fetal pericardial effusion (HP:0025671)
Associated disease: LYMPHATIC MALFORMATION 12 (OMIM:620014)
Gene: MDFIC
Phenotype: Fetal pleural effusion (HP:0025676)
Associated disease: LYMPHATIC MALFORMATION 12 (OMIM:620014)
Gene: MDFIC
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MDFIC
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MDFIC
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MDFIC
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MDFIC
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MDFIC
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MDFIC
Phenotype: Fetal ascites (HP:0001791)
Associated disease: LYMPHATIC MALFORMATION 12 (OMIM:620014)
Gene: MDFIC
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MDFIC
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHATIC MALFORMATION 12 (OMIM:620014)
Gene: MDFIC
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MDFIC
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MDFIC
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: MDFIC
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: UBQLN2
Phenotype: Language impairment (HP:0002463)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Dysarthria (HP:0001260)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:300857)
Gene: UBQLN2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Spasticity (HP:0001257)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Motor neuron atrophy (HP:0007373)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:300857)
Gene: UBQLN2
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Jaw hyperreflexia (HP:0033683)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Dystonia (HP:0001332)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:300857)
Gene: UBQLN2
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Laryngospasm (HP:0025425)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Progressive distal muscular atrophy (HP:0008955)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:300857)
Gene: UBQLN2
Phenotype: Dysphagia (HP:0002015)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:300857)
Gene: UBQLN2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Dyspnea (HP:0002094)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Steppage gait (HP:0003376)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:300857)
Gene: UBQLN2
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Paralysis (HP:0003470)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:300857)
Gene: UBQLN2
Phenotype: Paralysis (HP:0003470)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Babinski sign (HP:0003487)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Axonal loss (HP:0003447)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:300857)
Gene: UBQLN2
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Gliosis (HP:0002171)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:300857)
Gene: UBQLN2
Phenotype: Middle age onset (HP:0003596)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:300857)
Gene: UBQLN2
Phenotype: Late onset (HP:0003584)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:300857)
Gene: UBQLN2
Phenotype: Adult onset (HP:0003581)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:300857)
Gene: UBQLN2
Phenotype: Fasciculations (HP:0002380)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Progressive (HP:0003676)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:300857)
Gene: UBQLN2
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Drooling (HP:0002307)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Athetosis (HP:0002305)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:300857)
Gene: UBQLN2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:300857)
Gene: UBQLN2
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Cachexia (HP:0004326)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Anxiety (HP:0000739)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Depression (HP:0000716)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Emotional lability (HP:0000712)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Young adult onset (HP:0011462)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:300857)
Gene: UBQLN2
Phenotype: Orthopnea (HP:0012764)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Xerostomia (HP:0000217)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Fatigue (HP:0012378)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Dysphonia (HP:0001618)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Weight loss (HP:0001824)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UBQLN2
Phenotype: Pain (HP:0012531)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DONSON
Phenotype: Brachydactyly (HP:0001156)
Associated disease: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES (OMIM:617604)
Gene: DONSON
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES (OMIM:617604)
Gene: DONSON
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
Gene: DONSON
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DONSON
Phenotype: Aqueductal stenosis (HP:0002410)
Associated disease: MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
Gene: DONSON
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DONSON
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES (OMIM:617604)
Gene: DONSON
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES (OMIM:617604)
Gene: DONSON
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
Gene: DONSON
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DONSON
Phenotype: Neonatal death (HP:0003811)
Associated disease: MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
Gene: DONSON
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
Gene: DONSON
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DONSON
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DONSON
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES (OMIM:617604)
Gene: DONSON
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
Gene: DONSON
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DONSON
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DONSON
Phenotype: Absent radius (HP:0003974)
Associated disease: MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
Gene: DONSON
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DONSON
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Oligodactyly (HP:0012165)
Associated disease: MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
Gene: DONSON
Phenotype: Narrow mouth (HP:0000160)
Associated disease: MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
Gene: DONSON
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Cleft palate (HP:0000175)
Associated disease: MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
Gene: DONSON
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES (OMIM:617604)
Gene: DONSON
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
Gene: DONSON
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DONSON
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES (OMIM:617604)
Gene: DONSON
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
Gene: DONSON
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DONSON
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Forearm undergrowth (HP:0009821)
Associated disease: MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
Gene: DONSON
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Absent thumb (HP:0009777)
Associated disease: MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
Gene: DONSON
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DONSON
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DONSON
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DONSON
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES (OMIM:617604)
Gene: DONSON
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DONSON
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DONSON
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DONSON
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Short metacarpal (HP:0010049)
Associated disease: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES (OMIM:617604)
Gene: DONSON
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DONSON
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Short stature (HP:0004322)
Associated disease: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES (OMIM:617604)
Gene: DONSON
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES (OMIM:617604)
Gene: DONSON
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DONSON
Phenotype: Patellar hypoplasia (HP:0003065)
Associated disease: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES (OMIM:617604)