TaoMedAI/RareMedData huggingface dataset:
Gene: FOXP1
Phenotype: Prominent digit pad (HP:0011298)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Weight loss (HP:0001824)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: FOXP1
Phenotype: Ptosis (HP:0000508)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: FOXP1
Phenotype: Abnormality of the ear (HP:0000598)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Abnormality of refraction (HP:0000539)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: UQCRQ
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615159)
Gene: UQCRQ
Phenotype: Ataxia (HP:0001251)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615159)
Gene: UQCRQ
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615159)
Gene: UQCRQ
Phenotype: Inability to walk (HP:0002540)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615159)
Gene: UQCRQ
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615159)
Gene: UQCRQ
Phenotype: Dystonia (HP:0001332)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615159)
Gene: UQCRQ
Phenotype: Absent speech (HP:0001344)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615159)
Gene: UQCRQ
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615159)
Gene: UQCRQ
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615159)
Gene: UQCRQ
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615159)
Gene: UQCRQ
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615159)
Gene: UQCRQ
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615159)
Gene: UQCRQ
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615159)
Gene: UQCRQ
Phenotype: Athetosis (HP:0002305)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615159)
Gene: UQCRQ
Phenotype: Restlessness (HP:0000711)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615159)
Gene: UQCRQ
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615159)
Gene: EIF2AK1
Phenotype: Hypotonia (HP:0001252)
Associated disease: LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME (OMIM:618878)
Gene: EIF2AK1
Phenotype: Dysarthria (HP:0001260)
Associated disease: LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME (OMIM:618878)
Gene: EIF2AK1
Phenotype: Typically de novo (HP:0025352)
Associated disease: LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME (OMIM:618878)
Gene: EIF2AK1
Phenotype: Urinary urgency (HP:0000012)
Associated disease: LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME (OMIM:618878)
Gene: EIF2AK1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME (OMIM:618878)
Gene: EIF2AK1
Phenotype: Bradykinesia (HP:0002067)
Associated disease: LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME (OMIM:618878)
Gene: EIF2AK1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME (OMIM:618878)
Gene: EIF2AK1
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME (OMIM:618878)
Gene: EIF2AK1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME (OMIM:618878)
Gene: EIF2AK1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME (OMIM:618878)
Gene: EIF2AK1
Phenotype: Anxiety (HP:0000739)
Associated disease: LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME (OMIM:618878)
Gene: EIF2AK1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME (OMIM:618878)
Gene: ZBTB11
Phenotype: Hypotonia (HP:0001252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69 (OMIM:618383)
Gene: ZBTB11
Phenotype: Ataxia (HP:0001251)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69 (OMIM:618383)
Gene: ZBTB11
Phenotype: Dysarthria (HP:0001260)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69 (OMIM:618383)
Gene: ZBTB11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69 (OMIM:618383)
Gene: ZBTB11
Phenotype: Spasticity (HP:0001257)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69 (OMIM:618383)
Gene: ZBTB11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69 (OMIM:618383)
Gene: ZBTB11
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69 (OMIM:618383)
Gene: ZBTB11
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69 (OMIM:618383)
Gene: ZBTB11
Phenotype: Hyperplasia of the maxilla (HP:0430028)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69 (OMIM:618383)
Gene: ZBTB11
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69 (OMIM:618383)
Gene: ZBTB11
Phenotype: Drooling (HP:0002307)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69 (OMIM:618383)
Gene: ZBTB11
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69 (OMIM:618383)
Gene: ZBTB11
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69 (OMIM:618383)
Gene: ZBTB11
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69 (OMIM:618383)
Gene: ZBTB11
Phenotype: Microcephaly (HP:0000252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69 (OMIM:618383)
Gene: AFF4
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Facial hirsutism (HP:0009937)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Thickened ears (HP:0009894)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Gastroparesis (HP:0002578)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Thick hair (HP:0100874)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Thick hair (HP:0100874)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Hypospadias (HP:0000047)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Exophoria (HP:0025313)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Wormian bones (HP:0002645)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Glossoptosis (HP:0000162)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Macroglossia (HP:0000158)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: High, narrow palate (HP:0002705)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Constipation (HP:0002019)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Constipation (HP:0002019)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Asthma (HP:0002099)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Cervical C2/C3 vertebral fusion (HP:0004602)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Cervical C2/C3 vertebral fusion (HP:0004602)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Sleep apnea (HP:0010535)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Sleep apnea (HP:0010535)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Abnormal skeletal morphology (HP:0011842)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Congenital onset (HP:0003577)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Curly hair (HP:0002212)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Curly hair (HP:0002212)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Coarse hair (HP:0002208)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Small hand (HP:0200055)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Amblyopia (HP:0000646)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Synophrys (HP:0000664)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Synophrys (HP:0000664)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Short stature (HP:0004322)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Short stature (HP:0004322)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Fibular hypoplasia (HP:0003038)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Short nose (HP:0003196)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Short nose (HP:0003196)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Full cheeks (HP:0000293)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Hypoplasia of proximal radius (HP:0006434)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Microcephaly (HP:0000252)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Microcephaly (HP:0000252)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: High palate (HP:0000218)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Hip subluxation (HP:0030043)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Obesity (HP:0001513)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Obesity (HP:0001513)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Cupped ear (HP:0000378)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Thickened helices (HP:0000391)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Subglottic stenosis (HP:0001607)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Narrow forehead (HP:0000341)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)