TaoMedAI/RareMedData huggingface dataset:
Gene: KNSTRN
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: KNSTRN
Phenotype: Short distal phalanx of the thumb (HP:0009650)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Dyskinesia (HP:0100660)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: KNSTRN
Phenotype: Broad middle phalanx of finger (HP:0009844)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Decreased circulating total IgG concentration (HP:0032132)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Decreased specific antibody response to vaccination (HP:0032140)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Dermatochalasis (HP:0010750)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Short metatarsal (HP:0010743)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: KNSTRN
Phenotype: Chronic oral candidiasis (HP:0009098)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Optic atrophy (HP:0000648)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: KNSTRN
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Short metacarpal (HP:0010049)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: KNSTRN
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: KNSTRN
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Flat forehead (HP:0004425)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Clinodactyly of the 4th finger (HP:0040025)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Thin lower lip vermilion (HP:0010282)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: KNSTRN
Phenotype: Thin lower lip vermilion (HP:0010282)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Clinodactyly of the 2nd finger (HP:0040022)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Clinodactyly of the 3rd finger (HP:0040024)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Reduced total natural killer cell count (HP:0040218)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Osteopenia (HP:0000938)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: KNSTRN
Phenotype: Osteopenia (HP:0000938)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Abnormal T cell subset distribution (HP:0025540)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: KNSTRN
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Decreased mitogen-induced T-cell proliferation (HP:0031381)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Decreased anti-CD3/28-induced T-cell proliferation (HP:0031382)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: High forehead (HP:0000348)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: KNSTRN
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Abnormality of the chin (HP:0000306)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Combined immunodeficiency (HP:0005387)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: KNSTRN
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Short neck (HP:0000470)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: KNSTRN
Phenotype: Protruding ear (HP:0000411)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: KNSTRN
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Pes cavus (HP:0001761)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: ERI1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Syndactyly (HP:0001159)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Syndactyly (HP:0001159)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Uplifted earlobe (HP:0009909)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: High anterior hairline (HP:0009890)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Microtia (HP:0008551)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Motor delay (HP:0001270)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Severe intrauterine growth retardation (HP:0008846)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Scoliosis (HP:0002650)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Wormian bones (HP:0002645)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Wormian bones (HP:0002645)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Absent toe phalanx flexion crease (HP:6000891)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Diaphyseal undertubulation (HP:0005019)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Short fourth metatarsal (HP:0004689)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Asthma (HP:0002099)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Ulnar deviation of the hand (HP:0009487)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Short fifth metatarsal (HP:0004704)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Congenital onset (HP:0003577)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Congenital onset (HP:0003577)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Hypoplasia of the zygomatic bone (HP:0010669)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Short proximal phalanx of thumb (HP:0009638)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Absent toe (HP:0010760)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Pseudoepiphyses of hand bones (HP:0004288)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Short palm (HP:0004279)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Short distal phalanx of the 5th finger (HP:0004227)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Short 5th metacarpal (HP:0010047)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Short stature (HP:0004322)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Antenatal onset (HP:0030674)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Autism (HP:0000717)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Childhood onset (HP:0011463)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Flat forehead (HP:0004425)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Decreased hip abduction (HP:0003184)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Clinodactyly of the 2nd finger (HP:0040022)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Clinodactyly of the 3rd finger (HP:0040024)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Contracture of the proximal interphalangeal joint of the 4th finger (HP:0009276)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Increased vertebral height (HP:0004570)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Increased vertebral height (HP:0004570)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Osteopenia (HP:0000938)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Osteopenia (HP:0000938)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Short 4th toe (HP:0008093)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Absent fifth metatarsal (HP:0008079)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Finger aplasia (HP:0009380)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Perimembranous ventricular septal defect (HP:0011682)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Epicanthus (HP:0000286)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: High palate (HP:0000218)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: High palate (HP:0000218)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Cupped ear (HP:0000378)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Low-set ears (HP:0000369)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Low-set ears (HP:0000369)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Micrognathia (HP:0000347)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Triangular face (HP:0000325)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Pointed chin (HP:0000307)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Macrotia (HP:0000400)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Astigmatism (HP:0000483)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Strabismus (HP:0000486)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Webbed neck (HP:0000465)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Short foot (HP:0001773)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Broad foot (HP:0001769)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Pes planus (HP:0001763)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Foot oligodactyly (HP:0001849)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Overlapping toe (HP:0001845)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Proptosis (HP:0000520)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Ptosis (HP:0000508)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Absent toenail (HP:0001802)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Absent toenail (HP:0001802)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Deep-set nails (HP:0001814)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: ERI1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Gene: ERI1
Phenotype: Myopia (HP:0000545)
Associated disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Gene: YIF1B
Phenotype: Limb dystonia (HP:0002451)
Associated disease: KAYA-BARAKAT-MASSON SYNDROME (OMIM:619125)