TaoMedAI/RareMedData huggingface dataset:
Gene: DLD
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (OMIM:246900)
Gene: DLD
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (OMIM:246900)
Gene: DLD
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: E3-deficient maple syrup urine disease; Pyruvate dehydrogenase E3 deficiency; DLD deficiency; Dihydrolipoamide dehydrogenase deficiency (ORPHA:2394)
Gene: DLD
Phenotype: Increased urine alpha-ketoglutarate concentration (HP:0012402)
Associated disease: E3-deficient maple syrup urine disease; Pyruvate dehydrogenase E3 deficiency; DLD deficiency; Dihydrolipoamide dehydrogenase deficiency (ORPHA:2394)
Gene: DLG1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: DLG1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: DLG1
Phenotype: Peg-shaped maxillary lateral incisors (HP:0006342)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: DLG1
Phenotype: Abnormality of dental eruption (HP:0006292)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: DLG1
Phenotype: Poor suck (HP:0002033)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: DLG1
Phenotype: Agenesis of lateral incisor (HP:0200153)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: DLG1
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: DLG1
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: DLG1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: DLG1
Phenotype: Malnutrition (HP:0004395)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: DLG1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: DLG1
Phenotype: Bilateral cleft palate (HP:0100337)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: DLG1
Phenotype: Unilateral cleft palate (HP:0100334)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: DLG1
Phenotype: Palate fistula (HP:0010294)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: DLG1
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: DLG1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: DLG1
Phenotype: Abnormal number of permanent teeth (HP:0011044)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: DLG1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: DLG1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: DLG1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: DLG1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: DLG3
Phenotype: Motor delay (HP:0001270)
Associated disease: MENTAL RETARDATION, X-LINKED 90 (OMIM:300850)
Gene: DLG3
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, X-LINKED 90 (OMIM:300850)
Gene: DLG3
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, X-LINKED 90 (OMIM:300850)
Gene: DLG3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED 90 (OMIM:300850)
Gene: DLG3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, X-LINKED 90 (OMIM:300850)
Gene: DLG3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: MENTAL RETARDATION, X-LINKED 90 (OMIM:300850)
Gene: DLG3
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MENTAL RETARDATION, X-LINKED 90 (OMIM:300850)
Gene: DLG3
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: MENTAL RETARDATION, X-LINKED 90 (OMIM:300850)
Gene: DLG3
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: MENTAL RETARDATION, X-LINKED 90 (OMIM:300850)
Gene: DLG3
Phenotype: Enuresis (HP:0000805)
Associated disease: MENTAL RETARDATION, X-LINKED 90 (OMIM:300850)
Gene: DLG3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, X-LINKED 90 (OMIM:300850)
Gene: DLG3
Phenotype: Narrow chest (HP:0000774)
Associated disease: MENTAL RETARDATION, X-LINKED 90 (OMIM:300850)
Gene: DLG3
Phenotype: Malar flattening (HP:0000272)
Associated disease: MENTAL RETARDATION, X-LINKED 90 (OMIM:300850)
Gene: DLG3
Phenotype: High palate (HP:0000218)
Associated disease: MENTAL RETARDATION, X-LINKED 90 (OMIM:300850)
Gene: DLG3
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, X-LINKED 90 (OMIM:300850)
Gene: DLG3
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MENTAL RETARDATION, X-LINKED 90 (OMIM:300850)
Gene: DLG4
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62 (OMIM:618793)
Gene: DLG4
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62 (OMIM:618793)
Gene: DLG4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62 (OMIM:618793)
Gene: DLG4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62 (OMIM:618793)
Gene: DLG4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62 (OMIM:618793)
Gene: DLG4
Phenotype: Scoliosis (HP:0002650)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62 (OMIM:618793)
Gene: DLG4
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62 (OMIM:618793)
Gene: DLG4
Phenotype: Striae distensae (HP:0001065)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62 (OMIM:618793)
Gene: DLG4
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62 (OMIM:618793)
Gene: DLG4
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62 (OMIM:618793)
Gene: DLG4
Phenotype: Increased arm span (HP:0012771)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62 (OMIM:618793)
Gene: DLG4
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62 (OMIM:618793)
Gene: DLG4
Phenotype: Strabismus (HP:0000486)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62 (OMIM:618793)
Gene: DLG4
Phenotype: Pes planus (HP:0001763)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62 (OMIM:618793)
Gene: DLST
Phenotype: Pulsatile tinnitus (HP:0008629)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Panic attack (HP:0025269)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Episodic abdominal pain (HP:0002574)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: PARAGANGLIOMAS 7 (OMIM:618475)
Gene: DLST
Phenotype: Glomerular sclerosis (HP:0000096)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Proteinuria (HP:0000093)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Paraganglioma (HP:0002668)
Associated disease: PARAGANGLIOMAS 7 (OMIM:618475)
Gene: DLST
Phenotype: Paraganglioma (HP:0002668)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Tremor (HP:0001337)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PARAGANGLIOMAS 7 (OMIM:618475)
Gene: DLST
Phenotype: Pheochromocytoma (HP:0002666)
Associated disease: PARAGANGLIOMAS 7 (OMIM:618475)
Gene: DLST
Phenotype: Hypertension associated with pheochromocytoma (HP:0002640)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Flushing (HP:0031284)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Nausea (HP:0002018)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Elevated urinary norepinephrine level (HP:0003345)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Sinus tachycardia (HP:0011703)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Paroxysmal vertigo (HP:0010532)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Positive regitine blocking test (HP:0003574)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Adult onset (HP:0003581)
Associated disease: PARAGANGLIOMAS 7 (OMIM:618475)
Gene: DLST
Phenotype: Elevated circulating calcitonin concentration (HP:0003528)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Retinal capillary hemangioma (HP:0009711)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Chest pain (HP:0100749)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Elevated urinary dopamine level (HP:0011979)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Episodic hyperhidrosis (HP:0001069)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Recurrent paroxysmal headache (HP:0002331)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Hypertensive retinopathy (HP:0001095)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Elevated urinary epinephrine level (HP:0003639)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Palpitations (HP:0001962)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Episodic paroxysmal anxiety (HP:0000740)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Hematuria (HP:0000790)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Pallor (HP:0000980)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Arachnoid hemangiomatosis (HP:0012222)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Paraganglioma of head and neck (HP:0002864)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Fatigue (HP:0012378)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Dysphonia (HP:0001618)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Adrenal pheochromocytoma (HP:0006748)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Extraadrenal pheochromocytoma (HP:0006737)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Aniridia (HP:0000526)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLST
Phenotype: Weight loss (HP:0001824)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: DLX3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX3
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TRICHODENTOOSSEOUS SYNDROME (OMIM:190320)
Gene: DLX3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IV (OMIM:104510)
Gene: DLX3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX3
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX3
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX3
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX3
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IV (OMIM:104510)
Gene: DLX3
Phenotype: Enamel hypomineralization (HP:0006285)
Associated disease: Tricho-dento-osseous syndrome; TDO syndrome (ORPHA:3352)
Gene: DLX3
Phenotype: Yellow-brown discoloration of the teeth (HP:0006286)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IV (OMIM:104510)
Gene: DLX3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: TRICHODENTOOSSEOUS SYNDROME (OMIM:190320)
Gene: DLX3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Tricho-dento-osseous syndrome; TDO syndrome (ORPHA:3352)
Gene: DLX3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX3
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX3
Phenotype: Dental enamel pits (HP:0009722)
Associated disease: Tricho-dento-osseous syndrome; TDO syndrome (ORPHA:3352)
Gene: DLX3
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX3
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX3
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX3
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX3
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX3
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX3
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX3
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX3
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX3
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX3
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX3
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX3
Phenotype: Abnormal hair quantity (HP:0011362)
Associated disease: Tricho-dento-osseous syndrome; TDO syndrome (ORPHA:3352)
Gene: DLX3
Phenotype: Taurodontia (HP:0000679)
Associated disease: TRICHODENTOOSSEOUS SYNDROME (OMIM:190320)
Gene: DLX3
Phenotype: Taurodontia (HP:0000679)
Associated disease: Tricho-dento-osseous syndrome; TDO syndrome (ORPHA:3352)
Gene: DLX3
Phenotype: Taurodontia (HP:0000679)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IV (OMIM:104510)
Gene: DLX3
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX3
Phenotype: Microdontia (HP:0000691)
Associated disease: TRICHODENTOOSSEOUS SYNDROME (OMIM:190320)
Gene: DLX3
Phenotype: Microdontia (HP:0000691)
Associated disease: Tricho-dento-osseous syndrome; TDO syndrome (ORPHA:3352)
Gene: DLX3
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: TRICHODENTOOSSEOUS SYNDROME (OMIM:190320)
Gene: DLX3
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Tricho-dento-osseous syndrome; TDO syndrome (ORPHA:3352)
Gene: DLX3
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX3
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX3
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX3
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX3
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX3
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX3
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX3
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX3
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)