TaoMedAI/RareMedData huggingface dataset:
Gene: ATAD3A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL (OMIM:618810)
Gene: ATAD3A
Phenotype: Spasticity (HP:0001257)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Spasticity (HP:0001257)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Spasticity (HP:0001257)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL (OMIM:618810)
Gene: ATAD3A
Phenotype: Inability to walk (HP:0002540)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Neonatal death (HP:0003811)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL (OMIM:618810)
Gene: ATAD3A
Phenotype: Micropenis (HP:0000054)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL (OMIM:618810)
Gene: ATAD3A
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL (OMIM:618810)
Gene: ATAD3A
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL (OMIM:618810)
Gene: ATAD3A
Phenotype: Dystonia (HP:0001332)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL (OMIM:618810)
Gene: ATAD3A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Scoliosis (HP:0002650)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Scoliosis (HP:0002650)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL (OMIM:618810)
Gene: ATAD3A
Phenotype: Narrow mouth (HP:0000160)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL (OMIM:618810)
Gene: ATAD3A
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Frontal bossing (HP:0002007)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Spastic gait (HP:0002064)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL (OMIM:618810)
Gene: ATAD3A
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL (OMIM:618810)
Gene: ATAD3A
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Infantile onset (HP:0003593)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL (OMIM:618810)
Gene: ATAD3A
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Brittle hair (HP:0002299)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL (OMIM:618810)
Gene: ATAD3A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Nystagmus (HP:0000639)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Nystagmus (HP:0000639)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Positional foot deformity (HP:0005656)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL (OMIM:618810)
Gene: ATAD3A
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Reduced brain N-acetyl aspartate level by MRS (HP:0012708)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Short nose (HP:0003196)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Short nose (HP:0003196)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Hypocholesterolemia (HP:0003146)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL (OMIM:618810)
Gene: ATAD3A
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL (OMIM:618810)
Gene: ATAD3A
Phenotype: Long face (HP:0000276)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Long face (HP:0000276)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL (OMIM:618810)
Gene: ATAD3A
Phenotype: High forehead (HP:0000348)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: High forehead (HP:0000348)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Micrognathia (HP:0000347)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Micrognathia (HP:0000347)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Micrognathia (HP:0000347)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL (OMIM:618810)
Gene: ATAD3A
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL (OMIM:618810)
Gene: ATAD3A
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Corneal opacity (HP:0007957)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Deeply set eye (HP:0000490)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Anteverted nares (HP:0000463)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL (OMIM:618810)
Gene: ATAD3A
Phenotype: Talipes equinovalgus (HP:0001772)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL (OMIM:618810)
Gene: ATAD3A
Phenotype: Cataract (HP:0000518)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Developmental cataract (HP:0000519)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL (OMIM:618810)
Gene: ATAD3A
Phenotype: Developmental cataract (HP:0000519)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Esotropia (HP:0000565)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Esotropia (HP:0000565)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Myopia (HP:0000545)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Myopia (HP:0000545)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: BBS7
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Syndactyly (HP:0001159)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS7
Phenotype: Seizure (HP:0001250)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Ataxia (HP:0001251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BARDET-BIEDL SYNDROME 7 (OMIM:615984)
Gene: BBS7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Spasticity (HP:0001257)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Specific learning disability (HP:0001328)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BARDET-BIEDL SYNDROME 7 (OMIM:615984)
Gene: BBS7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS7
Phenotype: Celiac disease (HP:0002608)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Childhood-onset truncal obesity (HP:0008915)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Narrow mouth (HP:0000160)
Associated disease: BARDET-BIEDL SYNDROME 7 (OMIM:615984)
Gene: BBS7
Phenotype: Abnormal oral cavity morphology (HP:0000163)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BARDET-BIEDL SYNDROME 7 (OMIM:615984)
Gene: BBS7
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS7
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS7
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: BARDET-BIEDL SYNDROME 7 (OMIM:615984)
Gene: BBS7
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Asthma (HP:0002099)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Polydactyly (HP:0010442)
Associated disease: BARDET-BIEDL SYNDROME 7 (OMIM:615984)
Gene: BBS7
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Nasal dysarthria (HP:0008376)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Medial flaring of the eyebrow (HP:0010747)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS7
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Nystagmus (HP:0000639)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Blindness (HP:0000618)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Photophobia (HP:0000613)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Dental crowding (HP:0000678)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Microdontia (HP:0000691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Nyctalopia (HP:0000662)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS7
Phenotype: Hypodontia (HP:0000668)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Short stature (HP:0004322)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Anxiety (HP:0000739)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Short attention span (HP:0000736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Depression (HP:0000716)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Autism (HP:0000717)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Emotional lability (HP:0000712)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Atypical behavior (HP:0000708)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS7
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS7
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Infertility (HP:0000789)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Fifth finger distal phalanx clinodactyly (HP:0005769)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Insulin resistance (HP:0000855)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Hypertension (HP:0000822)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: BARDET-BIEDL SYNDROME 7 (OMIM:615984)
Gene: BBS7
Phenotype: Retrognathia (HP:0000278)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Malar flattening (HP:0000272)
Associated disease: BARDET-BIEDL SYNDROME 7 (OMIM:615984)
Gene: BBS7
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS7
Phenotype: Clinodactyly (HP:0030084)
Associated disease: BARDET-BIEDL SYNDROME 7 (OMIM:615984)
Gene: BBS7
Phenotype: High palate (HP:0000218)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Hydrometrocolpos (HP:0030010)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Obesity (HP:0001513)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Obesity (HP:0001513)
Associated disease: BARDET-BIEDL SYNDROME 7 (OMIM:615984)
Gene: BBS7
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS7
Phenotype: Impaired fasting glucose (HP:0025691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Rhinitis (HP:0012384)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Aplasia/Hypoplasia of the vagina (HP:0011026)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Otitis media (HP:0000388)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS7
Phenotype: Long philtrum (HP:0000343)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)