TaoMedAI/RareMedData huggingface dataset:
Gene: RASA2
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA2
Phenotype: Coarse hair (HP:0002208)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Abnormality of the lymphatic system (HP:0100763)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA2
Phenotype: Lymphedema (HP:0001004)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA2
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA2
Phenotype: Enlarged thorax (HP:0100625)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Blue irides (HP:0000635)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA2
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Aplasia of the semicircular canal (HP:0011381)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA2
Phenotype: Abnormal hair quantity (HP:0011362)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA2
Phenotype: Short stature (HP:0004322)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Abnormal EKG (HP:0003115)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA2
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Osteopenia (HP:0000938)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA2
Phenotype: Juvenile myelomonocytic leukemia (HP:0012209)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: High palate (HP:0000218)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA2
Phenotype: Thickened helices (HP:0000391)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: High forehead (HP:0000348)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA2
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Triangular face (HP:0000325)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA2
Phenotype: Abnormal pulmonary valve morphology (HP:0001641)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Strabismus (HP:0000486)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA2
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA2
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Webbed neck (HP:0000465)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA2
Phenotype: Abnormality of the spleen (HP:0001743)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Proptosis (HP:0000520)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA2
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA2
Phenotype: Ptosis (HP:0000508)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Delayed menarche (HP:0012569)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RB1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Deletion 13q14; Monosomy 13q14 syndrome; Del(13)(q14) (ORPHA:1587)
Gene: RB1
Phenotype: Retinoblastoma (HP:0009919)
Associated disease: Deletion 13q14; Monosomy 13q14 syndrome; Del(13)(q14) (ORPHA:1587)
Gene: RB1
Phenotype: Retinoblastoma (HP:0009919)
Associated disease: RETINOBLASTOMA (OMIM:180200)
Gene: RB1
Phenotype: Retinoblastoma (HP:0009919)
Associated disease: OSTEOGENIC SARCOMA (OMIM:259500)
Gene: RB1
Phenotype: Sporadic (HP:0003745)
Associated disease: RETINOBLASTOMA (OMIM:180200)
Gene: RB1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Deletion 13q14; Monosomy 13q14 syndrome; Del(13)(q14) (ORPHA:1587)
Gene: RB1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Deletion 13q14; Monosomy 13q14 syndrome; Del(13)(q14) (ORPHA:1587)
Gene: RB1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Deletion 13q14; Monosomy 13q14 syndrome; Del(13)(q14) (ORPHA:1587)
Gene: RB1
Phenotype: Joint swelling (HP:0001386)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: RB1
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Deletion 13q14; Monosomy 13q14 syndrome; Del(13)(q14) (ORPHA:1587)
Gene: RB1
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Deletion 13q14; Monosomy 13q14 syndrome; Del(13)(q14) (ORPHA:1587)
Gene: RB1
Phenotype: Osteosarcoma (HP:0002669)
Associated disease: RETINOBLASTOMA (OMIM:180200)
Gene: RB1
Phenotype: Osteosarcoma (HP:0002669)
Associated disease: OSTEOGENIC SARCOMA (OMIM:259500)
Gene: RB1
Phenotype: Lymphoma (HP:0002665)
Associated disease: RETINOBLASTOMA (OMIM:180200)
Gene: RB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BLADDER CANCER (OMIM:109800)
Gene: RB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINOBLASTOMA (OMIM:180200)
Gene: RB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SMALL CELL CANCER OF THE LUNG (OMIM:182280)
Gene: RB1
Phenotype: Cleft palate (HP:0000175)
Associated disease: RETINOBLASTOMA (OMIM:180200)
Gene: RB1
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: RB1
Phenotype: Osteolysis (HP:0002797)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: RB1
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: RB1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: BLADDER CANCER (OMIM:109800)
Gene: RB1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: RETINOBLASTOMA (OMIM:180200)
Gene: RB1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: OSTEOGENIC SARCOMA (OMIM:259500)
Gene: RB1
Phenotype: Neoplasm of the lung (HP:0100526)
Associated disease: SMALL CELL CANCER OF THE LUNG (OMIM:182280)
Gene: RB1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Deletion 13q14; Monosomy 13q14 syndrome; Del(13)(q14) (ORPHA:1587)
Gene: RB1
Phenotype: Aplasia/Hypoplasia of the thumb (HP:0009601)
Associated disease: Deletion 13q14; Monosomy 13q14 syndrome; Del(13)(q14) (ORPHA:1587)
Gene: RB1
Phenotype: Bladder neoplasm (HP:0009725)
Associated disease: BLADDER CANCER (OMIM:109800)
Gene: RB1
Phenotype: Pinealoma (HP:0010799)
Associated disease: RETINOBLASTOMA (OMIM:180200)
Gene: RB1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Deletion 13q14; Monosomy 13q14 syndrome; Del(13)(q14) (ORPHA:1587)
Gene: RB1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Deletion 13q14; Monosomy 13q14 syndrome; Del(13)(q14) (ORPHA:1587)
Gene: RB1
Phenotype: Fever (HP:0001945)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: RB1
Phenotype: Leukemia (HP:0001909)
Associated disease: RETINOBLASTOMA (OMIM:180200)
Gene: RB1
Phenotype: Short stature (HP:0004322)
Associated disease: Deletion 13q14; Monosomy 13q14 syndrome; Del(13)(q14) (ORPHA:1587)
Gene: RB1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Deletion 13q14; Monosomy 13q14 syndrome; Del(13)(q14) (ORPHA:1587)
Gene: RB1
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: RB1
Phenotype: Vitritis (HP:0011531)
Associated disease: RETINOBLASTOMA (OMIM:180200)
Gene: RB1
Phenotype: Abnormal circulating lactate dehydrogenase concentration (HP:0045040)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: RB1
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: RB1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Deletion 13q14; Monosomy 13q14 syndrome; Del(13)(q14) (ORPHA:1587)
Gene: RB1
Phenotype: Ewing sarcoma (HP:0012254)
Associated disease: RETINOBLASTOMA (OMIM:180200)
Gene: RB1
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: Deletion 13q14; Monosomy 13q14 syndrome; Del(13)(q14) (ORPHA:1587)
Gene: RB1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Deletion 13q14; Monosomy 13q14 syndrome; Del(13)(q14) (ORPHA:1587)
Gene: RB1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Deletion 13q14; Monosomy 13q14 syndrome; Del(13)(q14) (ORPHA:1587)
Gene: RB1
Phenotype: Thickened helices (HP:0000391)
Associated disease: Deletion 13q14; Monosomy 13q14 syndrome; Del(13)(q14) (ORPHA:1587)
Gene: RB1
Phenotype: Retinal calcification (HP:0007862)
Associated disease: RETINOBLASTOMA (OMIM:180200)
Gene: RB1
Phenotype: Abnormal tibial metaphysis morphology (HP:0006491)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: RB1
Phenotype: Abnormal femoral metaphysis morphology (HP:0006489)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: RB1
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: Deletion 13q14; Monosomy 13q14 syndrome; Del(13)(q14) (ORPHA:1587)
Gene: RB1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Deletion 13q14; Monosomy 13q14 syndrome; Del(13)(q14) (ORPHA:1587)
Gene: RB1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Deletion 13q14; Monosomy 13q14 syndrome; Del(13)(q14) (ORPHA:1587)
Gene: RB1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Deletion 13q14; Monosomy 13q14 syndrome; Del(13)(q14) (ORPHA:1587)
Gene: RB1
Phenotype: Vitreous hemorrhage (HP:0007902)
Associated disease: RETINOBLASTOMA (OMIM:180200)
Gene: RB1
Phenotype: Short neck (HP:0000470)
Associated disease: Deletion 13q14; Monosomy 13q14 syndrome; Del(13)(q14) (ORPHA:1587)
Gene: RB1
Phenotype: Webbed neck (HP:0000465)
Associated disease: Deletion 13q14; Monosomy 13q14 syndrome; Del(13)(q14) (ORPHA:1587)
Gene: RB1
Phenotype: Protruding ear (HP:0000411)
Associated disease: Deletion 13q14; Monosomy 13q14 syndrome; Del(13)(q14) (ORPHA:1587)
Gene: RB1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Deletion 13q14; Monosomy 13q14 syndrome; Del(13)(q14) (ORPHA:1587)
Gene: RB1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Deletion 13q14; Monosomy 13q14 syndrome; Del(13)(q14) (ORPHA:1587)
Gene: RB1
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: BLADDER CANCER (OMIM:109800)
Gene: RB1
Phenotype: Cataract (HP:0000518)
Associated disease: Deletion 13q14; Monosomy 13q14 syndrome; Del(13)(q14) (ORPHA:1587)
Gene: RB1
Phenotype: Weight loss (HP:0001824)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: RB1
Phenotype: Ptosis (HP:0000508)
Associated disease: Deletion 13q14; Monosomy 13q14 syndrome; Del(13)(q14) (ORPHA:1587)
Gene: RB1
Phenotype: Leukocoria (HP:0000555)
Associated disease: RETINOBLASTOMA (OMIM:180200)
Gene: RB1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Deletion 13q14; Monosomy 13q14 syndrome; Del(13)(q14) (ORPHA:1587)
Gene: RB1
Phenotype: Pain (HP:0012531)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: KDM5A
Phenotype: Hippocampal atrophy (HP:0410170)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Gait disturbance (HP:0001288)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Seizure (HP:0001250)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Hypotonia (HP:0001252)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Ataxia (HP:0001251)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Absent speech (HP:0001344)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Parietal cortical atrophy (HP:0012104)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Frontal bossing (HP:0002007)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Echolalia (HP:0010529)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Posterior embryotoxon (HP:0000627)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Carious teeth (HP:0000670)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Autistic behavior (HP:0000729)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Microcephaly (HP:0000252)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Low-set ears (HP:0000369)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Micrognathia (HP:0000347)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Strabismus (HP:0000486)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Anteverted nares (HP:0000463)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Proptosis (HP:0000520)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: KDM5A
Phenotype: Hallux valgus (HP:0001822)
Associated disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Gene: RBBP8
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBBP8
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBBP8
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: RBBP8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: JAWAD SYNDROME (OMIM:251255)
Gene: RBBP8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JAWAD SYNDROME (OMIM:251255)
Gene: RBBP8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Few cafe-au-lait spots (HP:0007429)
Associated disease: SECKEL SYNDROME 2 (OMIM:606744)
Gene: RBBP8
Phenotype: Cerebellar calcifications (HP:0007352)
Associated disease: SECKEL SYNDROME 2 (OMIM:606744)
Gene: RBBP8
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBBP8
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: SECKEL SYNDROME 2 (OMIM:606744)
Gene: RBBP8
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: RBBP8
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: RBBP8
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Hypospadias (HP:0000047)
Associated disease: SECKEL SYNDROME 2 (OMIM:606744)
Gene: RBBP8
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: RBBP8
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBBP8
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Single interphalangeal crease of fifth finger (HP:0006216)
Associated disease: JAWAD SYNDROME (OMIM:251255)
Gene: RBBP8
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: RBBP8
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBBP8
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SECKEL SYNDROME 2 (OMIM:606744)
Gene: RBBP8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: JAWAD SYNDROME (OMIM:251255)
Gene: RBBP8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBBP8
Phenotype: Scoliosis (HP:0002650)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: RBBP8
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBBP8
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: SECKEL SYNDROME 2 (OMIM:606744)
Gene: RBBP8
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)