TaoMedAI/RareMedData huggingface dataset:
Gene: KAT6A
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Short hallux (HP:0010109)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Narrow chest (HP:0000774)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Upper limb amyotrophy (HP:0009129)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Inverted nipples (HP:0003186)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Preauricular pit (HP:0004467)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Anteverted ears (HP:0040080)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Thin eyebrow (HP:0045074)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Epicanthus (HP:0000286)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Epicanthus (HP:0000286)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Long face (HP:0000276)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Microcephaly (HP:0000252)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Microcephaly (HP:0000252)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Prominent umbilicus (HP:0001544)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Genu valgum (HP:0002857)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Growth delay (HP:0001510)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Growth delay (HP:0001510)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Small earlobe (HP:0000385)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Prominent antihelix (HP:0000395)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Low-set ears (HP:0000369)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Narrow forehead (HP:0000341)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Narrow forehead (HP:0000341)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Short philtrum (HP:0000322)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Triangular face (HP:0000325)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Genu varum (HP:0002970)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Microretrognathia (HP:0000308)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Microretrognathia (HP:0000308)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Pointed chin (HP:0000307)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Astigmatism (HP:0000483)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Strabismus (HP:0000486)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Strabismus (HP:0000486)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Deeply set eye (HP:0000490)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Bifid nasal tip (HP:0000456)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Webbed neck (HP:0000465)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Pes planus (HP:0001763)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Hammertoe (HP:0001765)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Underdeveloped tragus (HP:0011272)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Sandal gap (HP:0001852)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Proptosis (HP:0000520)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Ptosis (HP:0000508)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Ptosis (HP:0000508)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Esotropia (HP:0000565)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Myopia (HP:0000545)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: NR4A3
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: CHONDROSARCOMA, EXTRASKELETAL MYXOID (OMIM:612237)
Gene: NR4A3
Phenotype: Chondrosarcoma (HP:0006765)
Associated disease: CHONDROSARCOMA, EXTRASKELETAL MYXOID (OMIM:612237)
Gene: NUP214
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Hypertonia (HP:0001276)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Seizure (HP:0001250)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Hypotonia (HP:0001252)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Ataxia (HP:0001251)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Spasticity (HP:0001257)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: LEUKEMIA, ACUTE LYMPHOBLASTIC (OMIM:613065)
Gene: NUP214
Phenotype: Death in childhood (HP:0003819)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: NUP214
Phenotype: Myoclonus (HP:0001336)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: NUP214
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LEUKEMIA, ACUTE LYMPHOBLASTIC (OMIM:613065)
Gene: NUP214
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Poor suck (HP:0002033)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Vomiting (HP:0002013)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Respiratory distress (HP:0002098)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Apnea (HP:0002104)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: NUP214
Phenotype: Developmental regression (HP:0002376)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Progressive (HP:0003676)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Hypopnea (HP:0040213)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Cyanosis (HP:0000961)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Microcephaly (HP:0000252)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Death in infancy (HP:0001522)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Failure to thrive (HP:0001508)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Hyponatremia (HP:0002902)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Hypokalemia (HP:0002900)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: NUP214
Phenotype: Acute lymphoblastic leukemia (HP:0006721)
Associated disease: LEUKEMIA, ACUTE LYMPHOBLASTIC (OMIM:613065)
Gene: NUP214
Phenotype: Extra-axial cerebrospinal fluid accumulation (HP:0012510)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Gene: LHX3
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX3
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Lethargy (HP:0001254)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Hypotonia (HP:0001252)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 3 (OMIM:221750)
Gene: LHX3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Decreased thyroid-stimulating hormone level (HP:0031098)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX3
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Delayed proximal femoral epiphyseal ossification (HP:0008828)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX3
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 3 (OMIM:221750)
Gene: LHX3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX3
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX3
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Abnormal circulating thyroglobulin concentration (HP:0025483)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Macroglossia (HP:0000158)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Inappropriate antidiuretic hormone secretion (HP:0031218)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Reduced radioactive iodine uptake (HP:0031219)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Constipation (HP:0002019)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Thyroid hypoplasia (HP:0005990)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Decreased cervical spine mobility (HP:0004637)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Hypothermia (HP:0002045)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX3
Phenotype: Ectopic posterior pituitary (HP:0011755)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Adrenocorticotropic hormone deficiency (HP:0011748)
Associated disease: Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome; Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome (ORPHA:231720)
Gene: LHX3
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Thoracolumbar kyphoscoliosis (HP:0003423)
Associated disease: Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome; Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome (ORPHA:231720)
Gene: LHX3
Phenotype: Pituitary hypothyroidism (HP:0008245)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Pituitary hypothyroidism (HP:0008245)
Associated disease: Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome; Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome (ORPHA:231720)
Gene: LHX3
Phenotype: Gonadotropin deficiency (HP:0008213)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 3 (OMIM:221750)
Gene: LHX3
Phenotype: Gonadotropin deficiency (HP:0008213)
Associated disease: Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome; Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome (ORPHA:231720)
Gene: LHX3
Phenotype: Reduced circulating prolactin concentration (HP:0008202)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 3 (OMIM:221750)