TaoMedAI/RareMedData huggingface dataset:
Gene: NGF
Phenotype: Poor wound healing (HP:0001058)
Associated disease: Congenital insensitivity to pain and thermal analgesia; CIP; Hereditary sensory and autonomic neuropathy type 5; HSAN5; Hereditary sensory and autonomic neuropathy type V (ORPHA:64752)
Gene: NGF
Phenotype: Hand tremor (HP:0002378)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V (OMIM:608654)
Gene: NGF
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: Congenital insensitivity to pain and thermal analgesia; CIP; Hereditary sensory and autonomic neuropathy type 5; HSAN5; Hereditary sensory and autonomic neuropathy type V (ORPHA:64752)
Gene: NGF
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V (OMIM:608654)
Gene: NGF
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V (OMIM:608654)
Gene: NGF
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V (OMIM:608654)
Gene: NGF
Phenotype: Recurrent fever (HP:0001954)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V (OMIM:608654)
Gene: NGF
Phenotype: Arthropathy (HP:0003040)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V (OMIM:608654)
Gene: NGF
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V (OMIM:608654)
Gene: NGF
Phenotype: Septic arthritis (HP:0003095)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V (OMIM:608654)
Gene: NGF
Phenotype: Anhidrosis (HP:0000970)
Associated disease: Congenital insensitivity to pain and thermal analgesia; CIP; Hereditary sensory and autonomic neuropathy type 5; HSAN5; Hereditary sensory and autonomic neuropathy type V (ORPHA:64752)
Gene: NGF
Phenotype: Anhidrosis (HP:0000970)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V (OMIM:608654)
Gene: NGF
Phenotype: Malar flattening (HP:0000272)
Associated disease: Congenital insensitivity to pain and thermal analgesia; CIP; Hereditary sensory and autonomic neuropathy type 5; HSAN5; Hereditary sensory and autonomic neuropathy type V (ORPHA:64752)
Gene: NGF
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Congenital insensitivity to pain and thermal analgesia; CIP; Hereditary sensory and autonomic neuropathy type 5; HSAN5; Hereditary sensory and autonomic neuropathy type V (ORPHA:64752)
Gene: NHLH2
Phenotype: Eunuchoid habitus (HP:0003782)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Micropenis (HP:0000054)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Azoospermia (HP:0000027)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Abnormality of body height (HP:0000002)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA (OMIM:619755)
Gene: NHLH2
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Cleft palate (HP:0000175)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Female hypogonadism (HP:0000134)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Absence of pubertal development (HP:0008197)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Absence of pubertal development (HP:0008197)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA (OMIM:619755)
Gene: NHLH2
Phenotype: Absence of secondary sex characteristics (HP:0008187)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Sparse body hair (HP:0002231)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA (OMIM:619755)
Gene: NHLH2
Phenotype: Reduced response to gonadotropin-releasing hormone stimulation test (HP:0020159)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA (OMIM:619755)
Gene: NHLH2
Phenotype: Impotence (HP:0000802)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Gynecomastia (HP:0000771)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Anxiety (HP:0000739)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Depression (HP:0000716)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Osteopenia (HP:0000938)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Increased female libido (HP:0030019)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Obesity (HP:0001513)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA (OMIM:619755)
Gene: NHLH2
Phenotype: Camptodactyly (HP:0012385)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NHLH2
Phenotype: Anosmia (HP:0000458)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA (OMIM:619755)
Gene: NHLH2
Phenotype: Decreased circulating luteinizing hormone level (HP:0030344)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA (OMIM:619755)
Gene: NHLH2
Phenotype: Decreased circulating follicle stimulating hormone concentration (HP:0030341)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA (OMIM:619755)
Gene: NHS
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: CATARACT 40 (OMIM:302200)
Gene: NHS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Nance-Horan syndrome (ORPHA:627)
Gene: NHS
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Nance-Horan syndrome (ORPHA:627)
Gene: NHS
Phenotype: Screwdriver-shaped incisors (HP:0006346)
Associated disease: NANCE-HORAN SYNDROME (OMIM:302350)
Gene: NHS
Phenotype: Supernumerary maxillary incisor (HP:0006332)
Associated disease: NANCE-HORAN SYNDROME (OMIM:302350)
Gene: NHS
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: NANCE-HORAN SYNDROME (OMIM:302350)
Gene: NHS
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: CATARACT 40 (OMIM:302200)
Gene: NHS
Phenotype: Congenital onset (HP:0003577)
Associated disease: NANCE-HORAN SYNDROME (OMIM:302350)
Gene: NHS
Phenotype: Sutural cataract (HP:0010695)
Associated disease: CATARACT 40 (OMIM:302200)
Gene: NHS
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: NANCE-HORAN SYNDROME (OMIM:302350)
Gene: NHS
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: NANCE-HORAN SYNDROME (OMIM:302350)
Gene: NHS
Phenotype: Nystagmus (HP:0000639)
Associated disease: NANCE-HORAN SYNDROME (OMIM:302350)
Gene: NHS
Phenotype: Nystagmus (HP:0000639)
Associated disease: Nance-Horan syndrome (ORPHA:627)
Gene: NHS
Phenotype: Short metacarpal (HP:0010049)
Associated disease: Nance-Horan syndrome (ORPHA:627)
Gene: NHS
Phenotype: Diastema (HP:0000699)
Associated disease: NANCE-HORAN SYNDROME (OMIM:302350)
Gene: NHS
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: NANCE-HORAN SYNDROME (OMIM:302350)
Gene: NHS
Phenotype: Nuclear cataract (HP:0100018)
Associated disease: NANCE-HORAN SYNDROME (OMIM:302350)
Gene: NHS
Phenotype: Nuclear cataract (HP:0100018)
Associated disease: CATARACT 40 (OMIM:302200)
Gene: NHS
Phenotype: Autism (HP:0000717)
Associated disease: NANCE-HORAN SYNDROME (OMIM:302350)
Gene: NHS
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Nance-Horan syndrome (ORPHA:627)
Gene: NHS
Phenotype: Anteverted ears (HP:0040080)
Associated disease: NANCE-HORAN SYNDROME (OMIM:302350)
Gene: NHS
Phenotype: Posterior Y-sutural cataract (HP:0008031)
Associated disease: NANCE-HORAN SYNDROME (OMIM:302350)
Gene: NHS
Phenotype: Narrow face (HP:0000275)
Associated disease: NANCE-HORAN SYNDROME (OMIM:302350)
Gene: NHS
Phenotype: Long face (HP:0000276)
Associated disease: NANCE-HORAN SYNDROME (OMIM:302350)
Gene: NHS
Phenotype: Long face (HP:0000276)
Associated disease: Nance-Horan syndrome (ORPHA:627)
Gene: NHS
Phenotype: Broad finger (HP:0001500)
Associated disease: NANCE-HORAN SYNDROME (OMIM:302350)
Gene: NHS
Phenotype: Mulberry molar (HP:0011092)
Associated disease: NANCE-HORAN SYNDROME (OMIM:302350)
Gene: NHS
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: Nance-Horan syndrome (ORPHA:627)
Gene: NHS
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Nance-Horan syndrome (ORPHA:627)
Gene: NHS
Phenotype: Macrotia (HP:0000400)
Associated disease: NANCE-HORAN SYNDROME (OMIM:302350)
Gene: NHS
Phenotype: Strabismus (HP:0000486)
Associated disease: Nance-Horan syndrome (ORPHA:627)
Gene: NHS
Phenotype: Microcornea (HP:0000482)
Associated disease: NANCE-HORAN SYNDROME (OMIM:302350)
Gene: NHS
Phenotype: Microcornea (HP:0000482)
Associated disease: Nance-Horan syndrome (ORPHA:627)
Gene: NHS
Phenotype: Prominent nose (HP:0000448)
Associated disease: NANCE-HORAN SYNDROME (OMIM:302350)
Gene: NHS
Phenotype: Prominent nose (HP:0000448)
Associated disease: Nance-Horan syndrome (ORPHA:627)
Gene: NHS
Phenotype: Protruding ear (HP:0000411)
Associated disease: Nance-Horan syndrome (ORPHA:627)
Gene: NHS
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: NANCE-HORAN SYNDROME (OMIM:302350)
Gene: NHS
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Nance-Horan syndrome (ORPHA:627)
Gene: NHS
Phenotype: Cataract (HP:0000518)
Associated disease: Nance-Horan syndrome (ORPHA:627)
Gene: NHS
Phenotype: Developmental cataract (HP:0000519)
Associated disease: NANCE-HORAN SYNDROME (OMIM:302350)
Gene: NHS
Phenotype: Visual impairment (HP:0000505)
Associated disease: Nance-Horan syndrome (ORPHA:627)
Gene: NHS
Phenotype: Glaucoma (HP:0000501)
Associated disease: NANCE-HORAN SYNDROME (OMIM:302350)
Gene: NHS
Phenotype: Glaucoma (HP:0000501)
Associated disease: Nance-Horan syndrome (ORPHA:627)
Gene: NHS
Phenotype: Visual loss (HP:0000572)
Associated disease: NANCE-HORAN SYNDROME (OMIM:302350)
Gene: NHS
Phenotype: Visual loss (HP:0000572)
Associated disease: Nance-Horan syndrome (ORPHA:627)
Gene: NHS
Phenotype: Microphthalmia (HP:0000568)
Associated disease: NANCE-HORAN SYNDROME (OMIM:302350)
Gene: NHS
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Nance-Horan syndrome (ORPHA:627)
Gene: NHS
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Nance-Horan syndrome (ORPHA:627)
Gene: NQO2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: NQO2
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: NQO2
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: NODAL
Phenotype: Poor speech (HP:0002465)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: NODAL
Phenotype: Poor speech (HP:0002465)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: NODAL
Phenotype: Poor speech (HP:0002465)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: NODAL
Phenotype: Poor speech (HP:0002465)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: NODAL
Phenotype: Expressive language delay (HP:0002474)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: NODAL
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: NODAL
Phenotype: Limb dystonia (HP:0002451)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: NODAL
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: NODAL
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: NODAL
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: NODAL
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: NODAL
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: NODAL
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: NODAL
Phenotype: Single naris (HP:0009932)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: NODAL
Phenotype: Single naris (HP:0009932)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: NODAL
Phenotype: Single naris (HP:0009932)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: NODAL
Phenotype: Single naris (HP:0009932)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: NODAL
Phenotype: Cyclopia (HP:0009914)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: NODAL
Phenotype: Cyclopia (HP:0009914)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: NODAL
Phenotype: Cyclopia (HP:0009914)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: NODAL
Phenotype: Cyclopia (HP:0009914)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: NODAL
Phenotype: Cyclopia (HP:0009914)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: NODAL
Phenotype: Abnormal midbrain morphology (HP:0002418)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: NODAL
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: NODAL
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: HETEROTAXY, VISCERAL, 5, AUTOSOMAL (OMIM:270100)
Gene: NODAL
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: NODAL
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: NODAL
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: NODAL
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: NODAL
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: NODAL
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: NODAL
Phenotype: Lethargy (HP:0001254)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: NODAL
Phenotype: Lethargy (HP:0001254)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: NODAL
Phenotype: Lethargy (HP:0001254)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: NODAL
Phenotype: Lethargy (HP:0001254)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: NODAL
Phenotype: Seizure (HP:0001250)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: NODAL
Phenotype: Seizure (HP:0001250)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: NODAL
Phenotype: Seizure (HP:0001250)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: NODAL
Phenotype: Seizure (HP:0001250)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: NODAL
Phenotype: Seizure (HP:0001250)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: NODAL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: NODAL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: NODAL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: NODAL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: NODAL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: NODAL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: NODAL
Phenotype: Spasticity (HP:0001257)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: NODAL
Phenotype: Spasticity (HP:0001257)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: NODAL
Phenotype: Spasticity (HP:0001257)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)