TaoMedAI/RareMedData huggingface dataset:
Gene: NDNF
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: NDNF
Phenotype: Erectile dysfunction (HP:0100639)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: NDNF
Phenotype: Nystagmus (HP:0000639)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: NDNF
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: NDNF
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: NDNF
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: NDNF
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA (OMIM:618841)
Gene: NDNF
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: NDNF
Phenotype: Hyposmia (HP:0004409)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: NDNF
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: NDNF
Phenotype: Hypothalamic gonadotropin-releasing hormone deficiency (HP:0003164)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA (OMIM:618841)
Gene: NDNF
Phenotype: Hypothalamic gonadotropin-releasing hormone deficiency (HP:0003164)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: NDNF
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: NDNF
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: NDNF
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA (OMIM:618841)
Gene: NDNF
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: NDNF
Phenotype: Dyspareunia (HP:0030016)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: NDNF
Phenotype: Obesity (HP:0001513)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: NDNF
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: NDNF
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: NDNF
Phenotype: Anosmia (HP:0000458)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA (OMIM:618841)
Gene: NDNF
Phenotype: Anosmia (HP:0000458)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: NDNF
Phenotype: Pes planus (HP:0001763)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: NDNF
Phenotype: Pes cavus (HP:0001761)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: NDNF
Phenotype: Ptosis (HP:0000508)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: NDNF
Phenotype: Visual impairment (HP:0000505)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: NDNF
Phenotype: Color vision defect (HP:0000551)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SH3TC2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C (OMIM:601596)
Gene: SH3TC2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Anisocoria (HP:0009916)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Sensory ataxia (HP:0010871)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Facial paralysis (HP:0007209)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C (OMIM:601596)
Gene: SH3TC2
Phenotype: Abnormal cranial nerve morphology (HP:0001291)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C (OMIM:601596)
Gene: SH3TC2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Motor delay (HP:0001270)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C (OMIM:601596)
Gene: SH3TC2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C (OMIM:601596)
Gene: SH3TC2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Areflexia (HP:0001284)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Inability to walk (HP:0002540)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C (OMIM:601596)
Gene: SH3TC2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MONONEUROPATHY OF THE MEDIAN NERVE, MILD (OMIM:613353)
Gene: SH3TC2
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C (OMIM:601596)
Gene: SH3TC2
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C (OMIM:601596)
Gene: SH3TC2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Constrictive median neuropathy (HP:0012185)
Associated disease: MONONEUROPATHY OF THE MEDIAN NERVE, MILD (OMIM:613353)
Gene: SH3TC2
Phenotype: Tongue muscle weakness (HP:0000183)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Hypoventilation (HP:0002791)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Myalgia (HP:0003326)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Decreased number of large peripheral myelinated nerve fibers (HP:0003387)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C (OMIM:601596)
Gene: SH3TC2
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: MONONEUROPATHY OF THE MEDIAN NERVE, MILD (OMIM:613353)
Gene: SH3TC2
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C (OMIM:601596)
Gene: SH3TC2
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C (OMIM:601596)
Gene: SH3TC2
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: EMG: chronic denervation signs (HP:0003444)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Basal lamina onion bulb formation (HP:0003400)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C (OMIM:601596)
Gene: SH3TC2
Phenotype: Infantile onset (HP:0003593)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C (OMIM:601596)
Gene: SH3TC2
Phenotype: Adult onset (HP:0003581)
Associated disease: MONONEUROPATHY OF THE MEDIAN NERVE, MILD (OMIM:613353)
Gene: SH3TC2
Phenotype: Facial palsy (HP:0010628)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C (OMIM:601596)
Gene: SH3TC2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C (OMIM:601596)
Gene: SH3TC2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Frequent falls (HP:0002359)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Head tremor (HP:0002346)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Trigeminal neuralgia (HP:0100661)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Mononeuropathy (HP:0009831)
Associated disease: MONONEUROPATHY OF THE MEDIAN NERVE, MILD (OMIM:613353)
Gene: SH3TC2
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Neuropathic spinal arthropathy (HP:0008443)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Segmental peripheral demyelination (HP:0007107)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C (OMIM:601596)
Gene: SH3TC2
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Drooling (HP:0002307)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C (OMIM:601596)
Gene: SH3TC2
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Nystagmus (HP:0000639)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C (OMIM:601596)
Gene: SH3TC2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Diplopia (HP:0000651)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Peripheral axonal degeneration (HP:0000764)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C (OMIM:601596)
Gene: SH3TC2
Phenotype: Childhood onset (HP:0011463)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C (OMIM:601596)
Gene: SH3TC2
Phenotype: Delayed brainstem auditory evoked response conduction time (HP:0004466)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C (OMIM:601596)
Gene: SH3TC2
Phenotype: Axonal degeneration (HP:0040078)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C (OMIM:601596)
Gene: SH3TC2
Phenotype: Greater auricular nerve thickening (HP:0034347)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C (OMIM:601596)
Gene: SH3TC2
Phenotype: Pes valgus (HP:0008081)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Abnormal pupillary light reflex (HP:0007695)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C (OMIM:601596)
Gene: SH3TC2
Phenotype: Abnormal pupillary light reflex (HP:0007695)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C (OMIM:601596)
Gene: SH3TC2
Phenotype: Vocal cord paresis (HP:0001604)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C (OMIM:601596)
Gene: SH3TC2
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Strabismus (HP:0000486)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C (OMIM:601596)
Gene: SH3TC2
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Pes planus (HP:0001763)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Hammertoe (HP:0001765)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C (OMIM:601596)
Gene: SH3TC2
Phenotype: Hammertoe (HP:0001765)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C (OMIM:601596)
Gene: SH3TC2
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C (OMIM:601596)
Gene: SH3TC2
Phenotype: Pes cavus (HP:0001761)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: SH3TC2
Phenotype: Abnormal optic nerve morphology (HP:0000587)
Associated disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Gene: EFL1
Phenotype: Abnormal finger morphology (HP:0001167)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Transiently decreased total neutrophil count (HP:0410255)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Persistently decreased total neutrophil count (HP:0410252)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFL1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFL1
Phenotype: Sepsis (HP:0100806)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Hypotonia (HP:0001252)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 2 (OMIM:617941)
Gene: EFL1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Pancreatic hypoplasia (HP:0002594)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 2 (OMIM:617941)
Gene: EFL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Steatorrhea (HP:0002570)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 2 (OMIM:617941)
Gene: EFL1
Phenotype: Steatorrhea (HP:0002570)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Hypoamylasemia (HP:0410289)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFL1
Phenotype: Death in childhood (HP:0003819)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 2 (OMIM:617941)
Gene: EFL1
Phenotype: Abnormal joint morphology (HP:0001367)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFL1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFL1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 2 (OMIM:617941)
Gene: EFL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFL1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Fat malabsorption (HP:0002630)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFL1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Oral ulcer (HP:0000155)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Hyperechogenic pancreas (HP:0006276)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 2 (OMIM:617941)
Gene: EFL1
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 2 (OMIM:617941)
Gene: EFL1
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Diarrhea (HP:0002014)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 2 (OMIM:617941)
Gene: EFL1
Phenotype: Pneumonia (HP:0002090)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFL1
Phenotype: Decreased circulating vitamin D concentration (HP:0100512)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Decreased circulating vitamin E concentration (HP:0100513)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 2 (OMIM:617941)