TaoMedAI/RareMedData huggingface dataset:
Gene: BMP4
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Female hypogonadism (HP:0000134)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
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: BMP4
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Lumbar kyphoscoliosis (HP:0004619)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Spondylolisthesis (HP:0003302)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Midface retrusion (HP:0011800)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: BMP4
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Midface retrusion (HP:0011800)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Respiratory distress (HP:0002098)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Polydactyly (HP:0010442)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Spinal canal stenosis (HP:0003416)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: Bakrania-Ragge syndrome; MCOPS6; Syndromic microphthalmia type 6; Microphthalmia with brain and digit anomalies (ORPHA:139471)
Gene: BMP4
Phenotype: Thumb contracture (HP:0009600)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: Bakrania-Ragge syndrome; MCOPS6; Syndromic microphthalmia type 6; Microphthalmia with brain and digit anomalies (ORPHA:139471)
Gene: BMP4
Phenotype: Small sella turcica (HP:0010538)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Abnormal cartilage collagen (HP:0008271)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Enlarged epiphyses (HP:0010580)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: BMP4
Phenotype: Congenital onset (HP:0003577)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
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: BMP4
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: BMP4
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Inferior cerebellar vermis hypoplasia (HP:0007068)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Inferior cerebellar vermis hypoplasia (HP:0007068)
Associated disease: Bakrania-Ragge syndrome; MCOPS6; Syndromic microphthalmia type 6; Microphthalmia with brain and digit anomalies (ORPHA:139471)
Gene: BMP4
Phenotype: Splayed epiphyses (HP:0200003)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Open bite (HP:0010807)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BMP4
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
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: BMP4
Phenotype: Nystagmus (HP:0000639)
Associated disease: Bakrania-Ragge syndrome; MCOPS6; Syndromic microphthalmia type 6; Microphthalmia with brain and digit anomalies (ORPHA:139471)
Gene: BMP4
Phenotype: Nystagmus (HP:0000639)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Optic atrophy (HP:0000648)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: BMP4
Phenotype: Sclerocornea (HP:0000647)
Associated disease: Bakrania-Ragge syndrome; MCOPS6; Syndromic microphthalmia type 6; Microphthalmia with brain and digit anomalies (ORPHA:139471)
Gene: BMP4
Phenotype: Sclerocornea (HP:0000647)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Blindness (HP:0000618)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Blindness (HP:0000618)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Bakrania-Ragge syndrome; MCOPS6; Syndromic microphthalmia type 6; Microphthalmia with brain and digit anomalies (ORPHA:139471)
Gene: BMP4
Phenotype: Exudative vitreoretinopathy (HP:0030490)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: BMP4
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Macrodontia of permanent maxillary central incisor (HP:0000675)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
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: BMP4
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BMP4
Phenotype: Short stature (HP:0004322)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Short stature (HP:0004322)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Abnormal vitreous humor morphology (HP:0004327)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Cachexia (HP:0004326)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Optically empty vitreous (HP:0030663)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: BMP4
Phenotype: Premature osteoarthritis (HP:0003088)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: BMP4
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: BMP4
Phenotype: Enlarged joints (HP:0003037)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
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: BMP4
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BMP4
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BMP4
Phenotype: Lambdoidal craniosynostosis (HP:0004443)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Short nose (HP:0003196)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Short nose (HP:0003196)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: BMP4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Protrusio acetabuli (HP:0003179)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Retinal hole (HP:0011530)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: Bakrania-Ragge syndrome; MCOPS6; Syndromic microphthalmia type 6; Microphthalmia with brain and digit anomalies (ORPHA:139471)
Gene: BMP4
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
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: BMP4
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: BMP4
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
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: BMP4
Phenotype: Short hard palate (HP:0010290)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Clinodactyly of the 4th finger (HP:0040025)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Hip contracture (HP:0003273)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Meningeal calcification (HP:0100250)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Dumbbell-shaped long bone (HP:0000947)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Abnormal diaphysis morphology (HP:0000940)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: BMP4
Phenotype: Small distal femoral epiphysis (HP:0012283)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Small proximal tibial epiphyses (HP:0012284)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Epicanthus (HP:0000286)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Epicanthus (HP:0000286)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Retrognathia (HP:0000278)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Malar flattening (HP:0000272)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Malar flattening (HP:0000272)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Malar flattening (HP:0000272)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: BMP4
Phenotype: Malar flattening (HP:0000272)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Proximal femoral epiphysiolysis (HP:0006461)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Irregular proximal tibial epiphyses (HP:0006456)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: BMP4
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BMP4
Phenotype: Irregular distal femoral epiphysis (HP:0006407)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Coxa vara (HP:0002812)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Arthralgia (HP:0002829)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Arthralgia (HP:0002829)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: BMP4
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Hip dislocation (HP:0002827)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Knee osteoarthritis (HP:0005086)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Kyphosis (HP:0002808)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Dumbbell-shaped femur (HP:0006375)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Irregular femoral epiphysis (HP:0006361)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Microcephaly (HP:0000252)
Associated disease: Bakrania-Ragge syndrome; MCOPS6; Syndromic microphthalmia type 6; Microphthalmia with brain and digit anomalies (ORPHA:139471)
Gene: BMP4
Phenotype: Brachycephaly (HP:0000248)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
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: BMP4
Phenotype: High palate (HP:0000218)
Associated disease: Bakrania-Ragge syndrome; MCOPS6; Syndromic microphthalmia type 6; Microphthalmia with brain and digit anomalies (ORPHA:139471)
Gene: BMP4
Phenotype: High palate (HP:0000218)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Genu valgum (HP:0002857)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
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: BMP4
Phenotype: Slender build (HP:0001533)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: BMP4
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BMP4
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: BMP4
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
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: BMP4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: High myopia (HP:0011003)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Low-set ears (HP:0000369)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Low-set ears (HP:0000369)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Long philtrum (HP:0000343)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Long philtrum (HP:0000343)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: High forehead (HP:0000348)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Micrognathia (HP:0000347)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Micrognathia (HP:0000347)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Micrognathia (HP:0000347)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Tibial bowing (HP:0002982)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Round face (HP:0000311)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
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: BMP4
Phenotype: Radial bowing (HP:0002986)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Genu varum (HP:0002970)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Microretrognathia (HP:0000308)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Lattice retinal degeneration (HP:0007992)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Bakrania-Ragge syndrome; MCOPS6; Syndromic microphthalmia type 6; Microphthalmia with brain and digit anomalies (ORPHA:139471)
Gene: BMP4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: BMP4
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: BMP4
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)