1. Gene
  2. FGFR1 - fibroblast growth factor receptor 1 Gene

FGFR1 - fibroblast growth factor receptor 1 Gene

中文名称:成纤维细胞生长因子受体 1

种属: Homo sapiens

同用名: CEK; FLG; HH2; OGD; ECCL; FLT2; KAL2; BFGFR; CD331; FGFBR; FLT-2; HBGFR; N-SAM; FGFR-1; HRTFDS; bFGF-R-1

基因 ID: 2260 | 基因类型: protein coding

关于 FGFR1

Cytogenetic location: 8p11.23 Genomic coordinates (GRCh38): 8:38,411,143-38,468,635 (from NCBI)

This gene has 58 transcripts (splice variants), 293 orthologues, 53 paralogues and is associated with 146 phenotypes. Ubiquitous expression in ovary (RPKM 21.8), fat (RPKM 21.4) and 25 other tissues.

功能概要

该基因编码的蛋白质是成纤维细胞生长因子受体 (FGFR) 家族的成员,其中氨基酸序列在成员之间和整个进化过程中高度保守。 FGFR 家族成员的配体亲和力和组织分布各不相同。全长代表性蛋白质由一个细胞外区域组成,该区域由三个免疫球蛋白样结构域、一个疏水性跨膜片段和一个细胞质酪氨酸激酶结构域组成。蛋白质的细胞外部分与成纤维细胞生长因子相互作用,启动一系列下游信号,最终影响有丝分裂发生和分化。这个特殊的家族成员结合酸性和碱性成纤维细胞生长因子,并参与肢体诱导。该基因的突变与 Pfeiffer 综合征、Jackson-Weiss 综合征、Antley-Bixler 综合征、骨细胞发育不良和常染色体显性 Kallmann 综合征 2 有关。涉及该基因的染色体畸变与干细胞骨髓增生性疾病和干细胞白血病淋巴瘤综合征有关。已经描述了编码不同蛋白质同种型的可变剪接变体;然而,并非所有变体都得到了充分表征。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene is a member of the Fibroblast Growth Factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]

FGFR1 基因产物(51)

mRNA Protein Name
XM_006716304.2 XP_006716367.1 fibroblast growth factor receptor 1 isoform X7
XM_017013220.2 XP_016868709.1 fibroblast growth factor receptor 1 isoform X6
NM_001354369.2 NP_001341298.1 fibroblast growth factor receptor 1 isoform 17 precursor
NM_001174065.2 NP_001167536.1 fibroblast growth factor receptor 1 isoform 2 precursor
NM_023107.2
XM_047421570.1 XP_047277526.1 fibroblast growth factor receptor 1 isoform X11
XM_011544446.3 XP_011542748.1 fibroblast growth factor receptor 1 isoform X4
NM_001174067.2 NP_001167538.1 fibroblast growth factor receptor 1 isoform 14 precursor
XM_017013225.3 XP_016868714.1 fibroblast growth factor receptor 1 isoform X12
XM_017013231.2 XP_016868720.1 fibroblast growth factor receptor 1 isoform X26
XM_047421574.1 XP_047277530.1 fibroblast growth factor receptor 1 isoform X23
NM_023109.1
NM_001354367.2 NP_001341296.1 fibroblast growth factor receptor 1 isoform 15 precursor
NM_023108.2
XM_011544450.3 XP_011542752.1 fibroblast growth factor receptor 1 isoform X16
NM_001354368.2 NP_001341297.1 fibroblast growth factor receptor 1 isoform 16 precursor
XM_017013227.2 XP_016868716.1 fibroblast growth factor receptor 1 isoform X18
NM_001174064.2 NP_001167535.1 fibroblast growth factor receptor 1 isoform 11 precursor
XM_047421573.1 XP_047277529.1 fibroblast growth factor receptor 1 isoform X22
NM_001174063.2 NP_001167534.1 fibroblast growth factor receptor 1 isoform 10 precursor
NM_001174066.2 NP_001167537.1 fibroblast growth factor receptor 1 isoform 3 precursor
XM_006716307.2 XP_006716370.1 fibroblast growth factor receptor 1 isoform X8
XM_011544447.3 XP_011542749.1 fibroblast growth factor receptor 1 isoform X5
NM_032191.1
NM_023111.2
XM_017013221.2 XP_016868710.1 fibroblast growth factor receptor 1 isoform X7
NM_023105.3 NP_075593.1 fibroblast growth factor receptor 1 isoform 3 precursor
XM_047421572.1 XP_047277528.1 fibroblast growth factor receptor 1 isoform X15
NM_015850.4 NP_056934.2 fibroblast growth factor receptor 1 isoform 2 precursor
XM_017013219.2 XP_016868708.1 fibroblast growth factor receptor 1 isoform X3
XM_017013226.2 XP_016868715.1 fibroblast growth factor receptor 1 isoform X17
XM_011544444.2 XP_011542746.1 fibroblast growth factor receptor 1 isoform X2
XM_047421575.1 XP_047277531.1 fibroblast growth factor receptor 1 isoform X24
XM_011544448.2 XP_011542750.1 fibroblast growth factor receptor 1 isoform X13
XM_006716303.4 XP_006716366.1 fibroblast growth factor receptor 1 isoform X7
XM_006716310.4 XP_006716373.1 fibroblast growth factor receptor 1 isoform X19
XM_006716312.2 XP_006716375.1 fibroblast growth factor receptor 1 isoform X19
XM_024447097.1 XP_024302865.1 fibroblast growth factor receptor 1 isoform X10
NM_023110.3 NP_075598.2 fibroblast growth factor receptor 1 isoform 1 precursor
XM_011544449.2 XP_011542751.1 fibroblast growth factor receptor 1 isoform X14
XM_006716314.3 XP_006716377.1 fibroblast growth factor receptor 1 isoform X20
NM_001354370.2 NP_001341299.1 fibroblast growth factor receptor 1 isoform 18 precursor
XM_047421569.1 XP_047277525.1 fibroblast growth factor receptor 1 isoform X9
XM_047421576.1 XP_047277532.1 fibroblast growth factor receptor 1 isoform X25
XM_011544445.3 XP_011542747.1 fibroblast growth factor receptor 1 isoform X1
XM_011544451.1 XP_011542753.1 fibroblast growth factor receptor 1 isoform X21
XM_047421571.1 XP_047277527.1 fibroblast growth factor receptor 1 isoform X12
XM_011544452.3 XP_011542754.1 fibroblast growth factor receptor 1 isoform X27
XM_006716311.1 XP_006716374.1 fibroblast growth factor receptor 1 isoform X19
NM_001410922.1 NP_001397851.1 fibroblast growth factor receptor 1 isoform 19 precursor
NM_023106.3 NP_075594.1 fibroblast growth factor receptor 1 isoform 4 precursor

FGFR1 蛋白结构

I-set

I-set: Immunoglobulin I-set domain (76 - 151)

I-set

I-set: Immunoglobulin I-set domain (200 - 278)

I-set

I-set: Immunoglobulin I-set domain (293 - 389)

Pkinase_Tyr

Pkinase_Tyr: Protein tyrosine kinase (509 - 785)

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  • 853 a.a.
蛋白主名 其他名称

fibroblast growth factor receptor 1

FGFR1/PLAG1 fusion

FMS-like tyrosine kinase 2

basic fibroblast growth factor receptor 1

fms-related tyrosine kinase 2

heparin-binding growth factor receptor

hydroxyaryl-protein kinase

proto-oncogene c-Fgr

重组 FGFR1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P73054 FGFR-1 beta Protein, Human (HEK293, His-Fc) P11362-14/NP_075594.1 (R22-E285) ≥95%
HY-P73055 FGFR-1 beta Protein, Human (HEK293, His) P11362-14/NP_075594.1 (R22-E285) ≥95%
HY-P75763 FGFR-1 alpha (IIIb) Protein, Human (HEK293, Fc) NP_056934 (R22-K310&A359-E374)&AAB19502 (H1-P47) ≥95%
HY-P75764 FGFR-1 alpha (IIIb) Protein, Human (HEK293, His) NP_056934 (R22-K310&A359-E374)&AAB19502 (H1-P47) ≥95%
HY-P75765 FGFR-1 beta (IIIb) Protein, Human (HEK293, Fc) NP_075594 (R22-K221&A270-E285)& AAB19502 (H1-P47) ≥95%
HY-P75766 FGFR-1 beta (IIIb) Protein, Human (HEK293, His) NP_075594 (R22-K221&A270-E285)& AAB19502 (H1-P47) ≥95%
HY-P77654 FGFR-1 beta (IIIc) Protein, Human (HEK293, His-Avi) P11362-7 (K158-T355) ≥95%
HY-P77659 FGFR-1 alpha (IIIc) Protein, Human (HEK293, His-Avi) P11362-7 (R22-E374) ≥95%
HY-P77660 FGFR-1 alpha (IIIc) Protein, Human (Biotinylated, HEK293, His-Avi) P11362-7 (R22-E374) ≥95%
HY-P700635 FGFR-1 alpha Protein, Human (HEK293, C-His) P11362-1 (R22-E376) ≥95%
HY-P700720 FGFR-1 beta (IIIc) Protein, Human (Biotinylated, HEK293, His-Avi) P11362-7 (K158-T355) ≥95%
HY-P700436 FGFR-1 beta Protein, Human (HEK293, hFc) NP_075594.1 (R22-E285) ≥95%

关联疾病

疾病名称 别名
Hypochondroplasia

HCH

Hypochondrodysplasia

Chondrogenesis Imperfecta

Hypochondroplastic Dwarfism

Hypochondroplastic Short Stature

Antley-Bixler Syndrome

Trapezoidocephaly Synostosis Syndrome

Trapezoidocephaly-Synostosis Syndrome

Antley Bixler Syndrome

Multisynostotic Osteodysgenesis With Long Bone Fractures

Osteodysgenesis, Multisynostotic With Fractures

Antley-Bixler Syndrome, Autosomal Dominant

Antley-Bixler Syndrome Phenotype

Choanal Atresia, Posterior

Choanal Atresia

Atresia Of Nares

Posterior Choanal Atresia

PCA

Imperforate Nares

Choanal Fusion

Congenital Stenosis Of Nares

Congenital Stenosis Of Choanae

Nasal Atresia Nos

Nevus, Epidermal

Epidermal Nevus

Woolly Hair Nevus

Epidermal Naevus

Epidermal Nevus Syndrome

Nevus, Keratinocytic, Nonepidermolytic

Epidermal Nevus, Somatic

Nevus, Epidermal, Somatic

Nevus Sebaceous Or Woolly Hair Nevus, Somatic

Nonepidermolytic Keratinocytic Nevus

Epidermal Hamartoma Syndrome

Wooly Hair Nevus

Keratinocytic Non-Epidermolytic Nevus

KNEN

Pigmented Moles

Organoid Nevus Phakomatosis

Nevus Sebaceous

Melanocytic Nevus

Melanocytic Nevus Of Skin

Microform Holoprosencephaly

Hpe, Minor Form

Hpe-L

Holoprosencephaly, Minor Form

Holoprosencephaly-Like

Microform Hpe

Osteochondrodysplasia

Chondrodystrophy

Skeletal Dysplasia

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv

Bone Disease

Bone Diseases

Skeletal Disease

Skeletal Disorder

Disorder Of Skeletal System

Rhabdomyosarcoma
Hypophosphatemic Rickets, X-Linked Dominant

Xlh

Vitamin D-Resistant Rickets, X-Linked

X-Linked Hypophosphatemia

XLHR

Hyp

Hypophosphatemic Vitamin D-Resistant Rickets

Hpdr

X-Linked Hypophosphatemic Rickets

X-Linked Dominant Hypophosphatemic Rickets

Familial Hypophosphatemic Rickets

Hypophosphatemia, X-Linked

Hypophosphatemia, Vitamin D-Resistant Rickets

Hypophosphatemic Rickets X-Linked Dominant

X-Linked Vitamin D-Resistant Rickets

Hypophophatemia, X-Linked

Hypophophatemic Vitamin D-Resistant Rickets

Hypophosphatemia X-Linked

Vitamin D-Resistant Rickets X-Linked

Vitamin D-Resistant Rickets

Rickets, X-Linked Hypophosphatemic

Hartsfield Syndrome

Hartsfield-Bixler-Demyer Syndrome

HRTFDS

Holoprosencephaly, Ectrodactyly, And Bilateral Cleft Lip/Palate

Holoprosencephaly Ectrodactyly Cleft Lip Palate

Hhes

Holoprosencephaly And Split Hand/Foot Syndrome

Holoprosencephaly, Hypertelorism, And Ectrodactyly Syndrome

Holoprosencephaly-Ectrodactyly-Cleft Lip/Palate Syndrome

Holoprosencephaly, Ectrodactyly And Bilateral Cleft Lip/Palate

Holoprosencephaly, Ectrodactyly, And Bilateral Cleft Lip-Palate

Myeloproliferative Neoplasm

Myeloproliferative Disorder

Chronic Myeloproliferative Disease

Myeloproliferative Neoplasms

Chronic Myeloproliferative Disorder

Cmpd

Cmpd, U

Chronic Myeloproliferative Disorders

Mpd

Mpn

Myeloproliferative Disorders

Myeloproliferative Disease

Campomelic Dysplasia

Oculoectodermal Syndrome

Aplasia Cutis Congenita With Epibulbar Dermoids

Toriello-Lacassie-Droste Syndrome

Oculoectodermal Syndrome, Somatic

OES

Aplasia Cutis Congenita-Epibulbar Dermoids Syndrome

Oculo-Ectodermal Syndrome

Toriello Lacassie Droste Syndrome

Lacrimoauriculodentodigital Syndrome

Ladd Syndrome

Levy-Hollister Syndrome

Lacrimo-Auriculo-Dento-Digital Syndrome

LADD

Lacrimoauriculodento-Digital Syndrome

Levy Hollister Syndrome

Lard Syndrome

Lacrimoauriculoradiodental Syndrome

LADDS

Congenital Duodenal Obstruction Due To Malrotation Of Intestine

Chromosome 2q35 Duplication Syndrome

Syndactyly

Syndactyly Type 1

Sdty1

Syndactyly, Type I

Sd1

Zygodactyly

Syndactyly, Type 1, With Or Without Craniosynostosis

Non-Syndromic Syndactyly

Symphalangism

Symphalangy

Webbing Of Digits

Syndactyly, Type 1

Leukemia

Leukemias

Leukaemia, Unspecified, Without Mention Of Remission

Aleukemic Leukaemia

Chronic Leukaemia

Subacute Leukaemia

Leukaemia Disorder

Leukaemia Nos

Ankylosis
Myeloid And Lymphoid Neoplasms Associated With Pdgfra Rearrangement

Myeloid/Lymphoid Neoplasm Associated With Pdgfra Rearrangement

Myeloid And Lymphoid Neoplasms With Pdgfra Rearrangement

Pancreatic Adenocarcinoma

Adenocarcinoma Of Pancreas

Adenocarcinoma Of The Pancreas

Pancreas Adenocarcinoma

Malignant Exocrine Neoplasm

Primary Pancreatic Adenocarcinoma

Adenocarcinoma Of Islet Cell Of Pancreas

Islet Cell Adenocarcinoma Of Unspecified Site

Mixed Adenocarcinoma Islet Cell With Exocrine Of Unspecified Site

Neuroblastoma

Nb

Neuroblastoma, Susceptibility To

Neuroblastomas

Central Neuroblastoma

Holoprosencephaly

Holoprosencephaly Sequence

Hpe

Hpe - [Holoprosencephaly]

Saethre-Chotzen Syndrome

SCS

Acs3

Acs Iii

Chotzen Syndrome

Acrocephaly, Skull Asymmetry, And Mild Syndactyly

Acrocephalosyndactyly Type 3

Acrocephalosyndactyly, Type Iii

Acrocephalosyndactyly Type Iii

Saethre-Chotzen Syndrome With Or Without Eyelid Anomalies

Auralcephalosyndactyly

Acs 3

Acrocephalo-Syndactyly, Type 3

Blepharophimosis,Epicanthus Inversus, And Ptosis 3

Aural Cephalosyndactyly

Kurczynski-Casperson Syndrome

Acrocephalosyndactyly Iii

Dysostosis Craniofacialis With Hypertelorism

Saethre-Chotzen Syndrome, With/Without Eyelid Anomalies

Sakati Syndrome

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

Pulmonary Hypertension

Primary Pulmonary Hypertension

Hypertension Pulmonary

Hypertension, Pulmonary

Idiopathic Pulmonary Hypertension

Idiopathic Pulmonary Arterial Hypertension

Pulmonary Htn - [Hypertension]

Giant Cell Glioblastoma

Monstrocellular Sarcoma

Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism

Undescended Testicle

Undescended Testis

Cryptorchism

Undescended Testicles

CRYPTO

Impaired Testicular Descent

Cryptosporidiosis

Retained Testis

Unilateral Cryptorchidism

Unilateral Undescended Testis

Nondescent Unilateral Testicle

Unilateral Cryptorchism

Ectopic Testis, Unilateral

Bilateral Cryptorchidism

Bilateral Cryptorchism

Bilateral Nondescent Testicle

Bilateral Undescended Testes

Bilateral Ectopic Testes

Brain Stem Glioma

Brainstem Neuroglial Tumor

Brainstem Glioma

Glioma Of Brainstem

Synostosis
Scoliosis
C Syndrome

Opitz Trigonocephaly Syndrome

Trigonocephaly

Trigonocephaly Syndrome

Trigonocephaly C Syndrome

Opitz C Trigonocephaly

Opitz Trigonocephaly C Syndrome

Otcs

CSYN

Squamous Cell Carcinoma

Epidermoid Carcinoma

Squamous Cell Cancer

Carcinoma, Squamous Cell

Malignant Squamous Cell Tumor

Squamous Carcinoma

Squamous Cell Epithelioma

Squamous Cell Skin Cancer

Carcinoma Squamous Cell

Neoplasms, Squamous Cell

Squamous Cell Carcinoma - Category

Malignant Squamous Cell Neoplasm

Squamous Cell Carcinoma Of Skin

Pancreatic Cancer

Pancreatic Carcinoma

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Carcinoma Of Pancreas

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Pancreatic Carcinoma, Somatic

Pancreatic Cancer, Somatic

Ca Body Of Pancreas

Ca Head Of Pancreas

Ca Tail Of Pancreas

Malignant Neoplasm Of Body Of Pancreas

Malignant Neoplasm Of Head Of Pancreas

Malignant Neoplasm Of Tail Of Pancreas

Pancreas Neoplasm

Exocrine Cancer

Exocrine Pancreas Carcinoma

Hereditary Pancreatic Cancer

Hereditary Pancreatic Carcinoma

PNCA

Cancer Of The Pancreas

Pancreatic Cancer, Susceptibility To

Carcinoma Of Head Of Pancreas

Pancreatic Neoplasms

Pancreatic Tumors

Cancer, Pancreatic

Cancer Of Pancreas

Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Spinal Cord Oligodendroglioma

Oligodendroglioma Of Spinal Cord

Well Differentiated Spinal Cord Oligodendroglioma

Craniosynostosis

Premature Closure Of Cranial Sutures

Craniostenosis

Craniosynostosis Syndrome

Cso

Craniosynostoses

Congenital Ossification Of Cranial Sutures

Congenital Ossification Of Sutures Of Skull

Craniostosis

Imperfect Fusion Of Skull

Congenital Imperfect Closure Skull

Imperfect Closure Skull

Premature Closure Cranium Sutures

Deficiency Of Craniofacial Axis

Prion Disease

Spongiform Encephalopathy

Transmissible Spongiform Encephalopathies

Prion Diseases

Prion Disease Pathway

Transmissible Spongiform Encephalopathy

Prion Induced Disorder

Prion Protein Disease

Inherited Human Transmissible Spongiform Encephalopathies

Prion Protein Diseases

Prion-Associated Disorders

Prion-Induced Disorders

Transmissible Dementias

Tses

Human Prion Disease

Tse

Encephalopathy, Transmissible Spongiform

Prion Disease, Susceptibility To

Spongiform Encephalopathies

Human Transmissible Spongiform Encephalopathies, Inherited

Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

Hyperphosphatemic Familial Tumoral Calcinosis

Hftc

Hyperostosis-Hyperphosphatemia Syndrome

Familial Hyperphosphatemic Tumoral Calcinosis/Hyperphosphatemic Hyperostosis Syndrome

Tumoral Calcinosis, Hyperphosphatemic, Familial

Phptc

Lipocalcinogranulomatosis

Morbus Teutschlaender

Hhs

Hyperostosis With Hyperphosphatemia

Cortical Hyperostosis With Hyperphosphatemia

Primary Hyperphosphatemic Tumoral Calcinosis

Familial Tumoral Calcinosis

HFTC1

Hypercalcemic Tumoral Calcinosis

Hyperphosphatemia Hyperostosis

Hyperphosphatemia Hyperostosis Syndrome

Hyperphosphatemia Tumoral Calcinosis

Calcinosis, Tumoral, With Hyperphosphatemia

Tumoral Calcinosis, Primary Hyperphosphatemic

Teutschlaender Disease, Familial

Familial Teutschlaender Disease

Tumoral Calcinosis With Hyperphosphatemia

Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome

Ftc/Hhs

Familial Tumoral Calcinosis With Hyperphosphatemia

Teutschlaender Disease

Tumoral Calcinosis Primary Hyperphosphatemic

Calcinosis, Tumoral, Hyperphosphatemic, Familial

Tumoral Calcinosis

Achondroplasia

Achondroplastic Dwarfism

ACH

Osteosclerosis Congenita

Achondroplastic Physique

Chondrodystrophia

Dwarf, Achondroplastic

Achondroplastic Short Stature

Congenital Osteosclerosis

Crouzon Syndrome

Crouzon Craniofacial Dysostosis

Craniofacial Dysostosis

Cfd1

Craniofacial Dysostosis Type 1

Crouzon Disease

Crouzon'S Disease

Craniofacial Dysostosis, Type I

Craniofacial Dysarthrosis

Craniofacial Dysostosis Syndrome

CS

Craniofacial Dysostosis Type I

Vogt Cephalosyndactyly

Oligodendroglioma

Oligodendroglial Neoplasm

Oligodendroglial Tumor

Oligodendroglial Tumors

Well Differentiated Oligodendroglioma

Charge Syndrome

Charge Association

Hall-Hittner Syndrome

Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies

Hhs

Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies

Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome

CHARGES

Central Nervous System Benign Neoplasm

Benign Neoplasm Of The Central Nervous System

Leukemia, Chronic Myeloid

Chronic Myeloid Leukemia

Chronic Myelogenous Leukemia

CML

Chronic Granulocytic Leukemia

Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib

Chronic Myeloid Leukaemia

Chronic Granulocytic Leukaemia

Chronic Myelogenous Leukaemia

Myeloid Leukemia, Chronic

Leukemia, Chronic Myelogenous

Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic

Cml - Chronic Myelogenous Leukemia

Cgl

Chronic Myelocytic Leukemia

Leukemia, Chronic Myeloid, Atypical

ACML

Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative

Myeloid Leukemia Chronic

Leukemia, Myeloid, Chronic

Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative

Cml- [Chronic Myeloid Leukaemia]

Cgl - [Chronic Granulocytic Leukaemia]

Chronic Myelocytic Leukaemia

Hypogonadotropic Hypogonadism 7 With Or Without Anosmia

Idiopathic Hypogonadotropic Hypogonadism

HH7

Hypogonadism, Isolated Hypogonadotropic

Ihh

Hypogonadism, Isolated, Hypogonadotropic

Hypogonadotropic Hypogonadism

Isolated Hypogonadotropic Hypogonadism

Hypogonadotropic Hypogonadism 7 Without Anosmia

Congenital Hypogonadotropic Hypogonadism Normosmic

Hh

Klinefelter Syndrome

Isolated Gonadotropin Deficiency

Renal Hypodysplasia/Aplasia 1

Renal Agenesis

Renal Adysplasia

Renal Aplasia

RHDA1

Hereditary Renal Aplasia

Hra

Hereditary Urogenital Adysplasia

Hypodysplasia/Aplasia, Renal, Type 1

Congenital Absence Of Kidneys Syndrome

Congenital Absence Of Kidney

Aplastic Kidney

Neurofibrosarcoma

Neurosarcoma

Malignant Peripheral Nerve Sheath Tumor

Sarcoma

Connective And Soft Tissue Neoplasm

Tumor Of Soft Tissue And Skeleton

Sarcomas

Sarcoma - Category

Pilomyxoid Astrocytoma
Non-Syndromic Metopic Craniosynostosis

Isolated Metopic Craniosynostosis

Isolated Trigonocephaly

Non-Syndromic Metopic Suture Synostosis

Trigonocephaly, Isolated

Osteoglophonic Dysplasia

Osteoglophonic Dwarfism

OGD

Fairbank-Keats Syndrome

Osteoglosphonic Dysplasia

Dysplasia, Osteoglophonic

Gliosarcoma

Glioblastoma With Sarcomatous Component

Sarcomatous Glioblastoma

Childhood Oligodendroglioma

Pediatric Oligodendroglioma

Oligodendroglioma, Childhood

Simple Partial Epilepsy

Epilepsy, Simple Partial

Hypertelorism, Microtia, Facial Clefting Syndrome

Hmc Syndrome

Bixler Christian Gorlin Syndrome

Bixler-Christian-Gorlin Syndrome

Hypertelorism-Microtia-Facial Clefting Syndrome

Bixler Syndrome

Hypertelorism-Microtia-Clefting Syndrome

Hypertelorism Microtia Facial Clefting Syndrome

Lobar Holoprosencephaly
Myelodysplastic Syndrome

Myelodysplastic Syndromes

Myelodysplasia

MDS

Myelodysplastic Syndrome Included

Myelodysplastic Syndrome, Susceptibility To, Included

Myelodysplastic Syndrome, Somatic

Myelodysplastic Syndrome, Susceptibility To

Hypogonadotropic Hypogonadism

Klinefelter Syndrome

Klinefelter'S Syndrome

Xxy Syndrome

Xxy Trisomy

Hypogonadotropism

47, Xxy

Congenital Idiopathic Hypogonadotropic Hypogonadism

Isolated Congenital Gonadotropin Deficiency

47,Xxy Syndrome

47, Xxy Syndrome

Klinefelters Syndrome

Hypogonadism

Klinefelter Syndrome In Males

Klinefelter Syndrome, Unspecified

Klinefelter Syndrome Karyotype 47, Xxy

Lymphoma

Lymphoid Cancer

Lymphomas

Lymphoid Cancers

Lymphoid Neoplasm

Lymphoma Nos

Nhl - [Non-Hodgkin Lymphoma]

Non-Hodgkin Lymphoma

Non-Hodgkin Lymphoma, Nos

Non-Hodgkin Malignant Lymphoma Nos

Glioblastoma

Glioblastoma Multiforme

Gbm

Adult Glioblastoma Multiforme

Grade Iv Adult Astrocytic Tumor

Primary Glioblastoma Multiforme

Spongioblastoma Multiforme

Adult Glioblastoma

Primary Glioblastoma

Hypophosphatemia

Vitamin D-Resistant Rickets

Hereditary Hypophosphatemic Rickets

Vdrr

Vitamin D Resistant Rickets

Hypophosphatemic Rickets, X-Linked Dominant

Familial Hypophosphatemic Rickets

Primary Hypereosinophilic Syndrome

Clonal Hypereosinophilic Syndrome

Hes-M

Hes-N

Neoplastic Hypereosinophilic Syndrome

Primary Hes

Hm Syndrome

Spinal Cord Disease

Spinal Cord Diseases

Myelopathy

Bone Marrow Diseases

Septooptic Dysplasia

Septo-Optic Dysplasia

De Morsier Syndrome

Growth Hormone Deficiency With Pituitary Anomalies

SOD

Pituitary Hormone Deficiency, Combined, 5

Septo-Optic Dysplasia Spectrum

Septo-Optic Dysplasia With Growth Hormone Deficiency

Pituitary Hormone Deficiency, Combined 5

Hypopituitarism And Septooptic 'Dysplasia'

GHDPA

CPHD5

Dysplasia, Septo-Optic

Kallmann Syndrome

Coloboma Of Macula

Coloboma

Congenital Ocular Coloboma

Microphthalmia, Isolated, With Coloboma

Agenesis Of Macula

Hereditary Macular Coloboma

Ocular Coloboma

Coloboma Of Eye

Macular Coloboma

Uveoretinal Coloboma

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Obesity , Susceptibility To

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

Endometrial Cancer

Endometrial Carcinoma

Endometrial Neoplasm

Malignant Neoplasm Of Endometrium

Endometrioid Carcinoma

Endometrial Neoplasms

Carcinoma, Endometrioid

Endometrial Cancer, Familial

Endometrial Carcinoma, Somatic

Endometrial Cancer, Susceptibility To

Endometrial Ca

Malignant Endometrial Neoplasm

Neoplasm Of Endometrium

Primary Malignant Neoplasm Of Endometrium

Tumor Of Endometrium

Carcinoma Of The Endometrium

Endometrioid Carcinoma Of Female Reproductive System

ENDMC

Carcinoma Endometrioid

Endometrial Cancers

Cancer, Endometrial

Uterine Corpus Cancer

Breast Cancer

Breast Carcinoma

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Male Breast Cancer

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Hypereosinophilic Syndrome

Eosinophilia

HES

Eosinophilic Leukocytosis

Hypereosinophilic Syndrome, Idiopathic

Idiopathic Hypereosinophilic Syndrome

Disseminated Eosinophilic Collagen Disease

Eosinophilic Disorder

Disorders With Increased Eosinophil Counts

Hypogonadism
Bone Development Disease
Mastocytosis

Mast Cell Disease

Mast Cell Hyperplasia

Urticaria Pigmentosa

Malignant Mastocytoma

Malignant Mast Cell Tumours

Malignant Mastocytosis

Cleidocranial Dysplasia

Cleidocranial Dysostosis

CLCD

Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only

Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly

CCD

Marie-Sainton Disease

Dysplasia Cleidocranial

Dento-Osseous Dysplasia

Marie-Sainton Syndrome

Dysplasia, Cleidocranial

Dysembryoplastic Neuroepithelial Tumor

Dysembryoplastic Neuroepithelial Neoplasm

Dysembryoplastic Neuroepithelial Tumour

Dnet

Lymphoblastic Lymphoma

Lymphoma, Lymphoblastic

Lymphoma Lymphoblastic

Precursor Cell Lymphoblastic Lymphoma

Precursor Cell Lymphoblastic Leukemia Lymphoma

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Protection Against

Lung Cancer, Susceptibility To

Adenocarcinoma Of Lung, Somatic

Nonsmall Cell Lung Cancer

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

Systemic Mastocytosis

Systemic Mast Cell Disease

Systemic Tissue Mast Cell Disease

Mastocytosis, Systemic

Smcd - Systemic Mast Cell Disease

Smcd

Mast Cell Disease, Systemic

Systemic Mast-Cell Disease

Systemic Mastocytoses

Mastocytosis Systemic

Corneal Dystrophy, Subepithelial Mucinous

Smcd - [Systemic Mast Cell Disease]

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Cleft Lip/Palate

Cleft Lip And Palate

Alveolar Cleft Lip And Palate

Cleft Lip-Alveolus-Palate Syndrome

Flp

Cleft Lip

Cheiloschisis

Labium Leporinum

Cleft Lip, Unilateral, Complete

Complete Unilateral Cleft Lip

Hare Lip

Congenital Fissure Of Lip

Isolated Cleft Lip

Cleft Lip Without Cleft Palate

Cleft Lip Without Cleft Palate, Unilateral

Isolated Cleft Lip, Unilateral

Cleft Lip Without Cleft Palate, Bilateral

Isolated Cleft Lip, Bilateral

Trigonocephaly 1

Metopic Craniosynostosis

TRIGNO1

Craniosynostosis, Metopic

Interfrontal Craniofaciosynostosis

Trigonocephaly 2

Gastrointestinal Stromal Tumor

GIST

Gastrointestinal Stromal Tumors

Gastrointestinal Stromal Sarcoma

Gastrointestinal Stromal Tumor, Familial

Gant

Gastrointestinal Stromal Tumour

Stromal Tumor Of Gastrointestinal Tract

Stromal Tumour Of Gastrointestinal Tract

Gastrointestinal Stromal Neoplasm

Paraganglioma And Gastric Stromal Sarcoma

Plexosarcoma

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

Chondroblastoma

Chondroblastoma Of Bone

8p11 Myeloproliferative Syndrome

8p11 Stem Cell Leukemia/Lymphoma Syndrome

8p11 Stem Cell Syndrome

Myeloid And Lymphoid Neoplasms With Fgfr1 Abnormalities

Stem Cell Leukemia/Lymphoma

Myeloid And Lymphoid Neoplasms With Fgfr1 Rearrangement

Chromosome 8p11 Myeloproliferative Syndrome

Paraganglioma

Chemodectoma

Glomus Body Tumor

Paragangliomas

Carotid Body Paraganglioma

Extra-Adrenal Paraganglioma

Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate

Encephalocraniocutaneous Lipomatosis

ECCL

Haberland Syndrome

Fishman Syndrome

Encephalocraniocutaneous Lipomatosis, Somatic Mosaic

Lipomatosis, Encephalocraniocutaneous

Neuroma
Orofacial Cleft

Cleft, Orofacial

Dysostosis

Dysostoses

Endomyocardial Fibrosis

Becker'S Disease

Obscure African Cardiomyopathy

African Endomyocardial Fibrosis

Endomyocardial Sclerosis

EMF

Becker Muscular Dystrophy

Pfeiffer Syndrome

Infectious Mononucleosis

Acs5

Craniofacial-Skeletal-Dermatologic Dysplasia

Acs V

Noack Syndrome

Gammaherpesviral Mononucleosis

Acrocephalosyndactyly Type 5

Pfeiffer Syndrome Type 3

Acrocephalosyndactyly, Type V

Glandular Fever

Pfeiffer Type Acrocephalosyndactyly

Pfeiffer Syndrome Type 2

Acrocephalosyndactylia Type V

Filatov'S Disease

Monocytic Angina

Mononucleosis

Pfeiffer'S Disease

Acsv

Acrocephalosyndactyly, Type 5

Craniofacial-Skeletal-Dermatologic Syndrome

Pfeiffer Syndrome Type 1

Classic Pfeiffer Syndrome

PS

Pfeiffer Syndrome Variant

Dysplasia, Craniofacial-Skeletal-Dermatologic

Pfeiffer

Kissing Disease

Infectious Adenitis

Pfeiffer Disease

Adenocarcinoma

Adenocarcinomas

Adenoacanthoma Of Unspecified Site

Adenocarcinoid Of Unspecified Site

Adenocarcinoid Tumour Of Unspecified Site

Adenocarcinoma And Carcinoid Combined Of Unspecified Site

Adenocarcinoma Nos

Semilobar Holoprosencephaly
Lymphoblastic Leukemia, Acute, With Lymphomatous Features

LALL

Lymphomatous All

Leukemia, Acute Lymphoblastic

Acute Lymphoblastic Leukemia With Lymphomatous Features

Chromosome 8p11 Myeloproliferative Syndrome

Stem Cell Leukemia/Lymphoma

Scll

Myeloid/Lymphoid Neoplasm Associated With Fgfr1 Rearrangement

8p11 Myeloproliferative Syndrome

Myeloid And Lymphoid Neoplasms With Fgfr1 Rearrangement

Kallmann Syndrome

Hypogonadism With Anosmia

Kallman'S Syndrome

Anosmic Hypogonadism

Anosmic Idiopathic Hypogonadotropic Hypogonadism

Hypogonadotropic Hypogonadism And Anosmia

Hypogonadotropic Hypogonadism-Anosmia Syndrome

Olfacto-Genital Pathological Sequence

Familial Hypogonadism With Anosmia

Kallman Syndrome

Dysplasia Olfactogenitalis Of De Morsier

Kallmann'S Syndrome

Congenital Hypogonadotropic Hypogonadism With Anosmia

Schimmelpenning-Feuerstein-Mims Syndrome

Nevus Sebaceus Of Jadassohn

Organoid Nevus Phakomatosis

Linear Nevus Sebaceous Syndrome

Sfm Syndrome

Jadassohn Nevus Phakomatosis

Jnp

Schimmelpenning Syndrome

Solomon Syndrome

SFM

Linear Sebaceous Nevus Syndrome

Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

Nevus Sebaceus Syndrome

Organoid Nevus Syndrome

Schimmelpenning Feuerstein Mims Syndrome

Sebaceous Nevus Syndrome, Linear

Epidermal Nevus Syndrome, Formerly

Sebaceous Nevus Syndrome Linear

Linear Nevus Sebaceus Syndrome

Epidermal Nevus Syndrome

Ss

Nevus Sebaceous

Phosphorus Metabolism Disease

Phosphorus Metabolism Disorders

Disorder Of Phosphorus Metabolism

Phosphorus Disorder

Phosphorus Metabolism Disorder

Pilocytic Astrocytoma

Juvenile Pilocytic Astrocytoma

Grade I Astrocytic Tumor

Piloid Astrocytoma

Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans

SADDAN

Saddan Dysplasia

Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome

Severe Achondroplasia With Developmental Delay And Acanthosis Nigricans

Ssb Syndrome

Skeleton Skin Brain Syndrome

Skeleton-Skin-Brain Syndrome

Achondroplasia

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Skin Lipoma

Lipoma Of Skin

Cutaneous Lipoma

Cutaneous Lipomatous Tumor

Lipoma Of Face

Cutaneous Lipomatous Neoplasm

Thanatophoric Dysplasia, Type I

Thanatophoric Dysplasia

Thanatophoric Dwarfism

Thanatophoric Dysplasia Type 1

TD1

Td

Thanatophoric Short Stature

Thanatophoric Dwarfism Type 1

Thanatophoric Dysplasia Type I

Platyspondylic Lethal Skeletal Dysplasia, San Diego Type

Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type

Skeletal Dysplasia, San Diego Type

Plsd San Diego Type

Thanatophoric Dwarfism 1

Dwarfism Thanatophoric

Dwarf, Thanatophoric

Thanatophoric Dysplasia 1

Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type

Platyspondylic Lethal Skeletal Dysplasia San Diego Type

Thanatophoric Dwarf

Thanatophoric Dwarfism Or Short Stature

Thanatophoric Dwarfism Syndrome

Td - [Thanatophoric Dwarfism]

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Plagiocephaly

Asymmetric Head

Lateral Curvatures Of Skull Unequal

Unicoronal Synostosis

Chronic Leukemia

Adult Chronic Leukemia

Cll

Cml

Low Grade Glioma

Benign Glioma

Medulloblastoma

MDB

Cpnet

Localized Primitive Neuroectodermal Tumor

Classic Medulloblastoma

Desmoplastic/Nodular Medulloblastoma

Medulloblastoma With Extensive Nodularity

Desmoplastic Medulloblastoma

Medulloblastoma, Somatic

Medulloblastoma, Desmoplastic

Brain Medulloblastoma

Cns Pnet

Infratentorial Primitive Neuroectodermal Tumor

Mben

Medulloblastoma Desmoplastic

Neuroectodermal Tumors, Primitive

Medulloblastomas

Medulloblastoma, With Extensive Nodularity

Medulloblastoma Of Unspecified Site

Medullomyoblastoma Of Unspecified Site

Holoprosencephaly 1

Arhinencephaly

HPE1

Cyclopia

Holoprosencephaly, Familial Alobar

Hpe, Familial

Hpec

Demyer Sequence

Holoprosencephaly-1

Apert Syndrome

Acrocephalosyndactyly Type I

Acs1

Acrocephalosyndactylia

Acs I

Apert-Crouzon Disease

Acrocephalosyndactyly

Acrocephalosyndactyly Type 1

Acrocephalosyndactyly, Type I

Acs 1

Acrocephalo-Syndactyly Type 1

Syndactylic Oxycephaly

Apert'S Syndrome

Type I Acrocephalosyndactyly

APRS

Atypical Chronic Myeloid Leukemia, Bcr-Abl1 Negative

Atypical Chronic Myeloid Leukaemia

Atypical Chronic Myeloid Leukemia

Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative

Acml

Atypical Chronic Myeloid Leukaemia Bcr-Abl1 Negative

Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative

Atypical Cml

Subacute Myeloid Leukemia

Subacute Myelogenous Leukaemia

Subacute Myeloid Leukaemia

Subacute Myelosis

Atypical Chronic Myeloid Leukaemia, Bcr-Abl-Negative Without Mention Of Remission

Subacute Monocytic Leukaemia Without Mention Of Remission

Subacute Monocytic Leukaemia

Hypogonadotropic Hypogonadism 2 With Or Without Anosmia

Kallmann Syndrome 2

Kal2

HH2

Hypogonadism, Hypogonadotropic, Type 2 With/Without Anosmia

Myeloid Leukemia

Myeloid Leukaemia

Leukaemia Myelogenous

Leukemia Myelogenous

Myeloid Granulocytic Leukaemia

Myeloid Granulocytic Leukemia

Non-Lymphocytic Leukemia

Leukemia, Myeloid

Granulocytic Leukaemia

Myelogenous Leukaemia

Myeloid Leukaemia, Unspecified, Without Mention Of Remission

Clivus Chondroid Chordoma

Chondroid Chordoma Of The Clivus

Hematologic Cancer

Hematologic Neoplasm

Hematologic Malignancies

Hematologic Neoplasms

Blood Cancer

Hematologic Malignancy

Hematological Tumors

Hematopoietic And Lymphoid System Tumor

Hematopoietic Cancer

Hematopoietic Neoplasm

Hematopoietic Tumors

Malignant Hematopoietic Neoplasm

Liquid Tumor

Hematopoietic Neoplasms

Hypogonadotropic Hypogonadism 1 With Or Without Anosmia

Kallmann Syndrome 1

Dysplasia Olfactogenitalis Of De Morsier

Kal1

HH1

Kms

Hypogonadotropic Hypogonadism And Anosmia

Hha

Anosmic Hypogonadism

Kallmann Syndrome, X-Linked

Kallmann Syndrome, Type 1, X-Linked

Kallmann Syndrome, Type 1, X Linked

Hypogonadism, Hypogonadotropic, Type 1, With/Without Anosmia )

Kallmann Syndrome

Myeloid And Lymphoid Neoplasms With Eosinophilia And Abnormalities Of Pdgfra, Pdgfrb, And Fgfr1

Myeloid And Lymphoid Neoplasms With Eosinophilia And Abnormalities Of Platelet-Derived Growth Factor Receptor Alpha , Platelet-Derived Growth Factor Receptor Beta , And Fibroblast Growth Factor Receptor-1 Are A Group Of Hematologic Neoplasms

Myeloid And Lymphoid Neoplasms With Eosinophilia And Rearrangement Of Pdgfra, Pdgfrb, Or Fgfr1, Or With Pcm1-Jak2

Liposarcoma

Lipomatous Cancer

Adult Oligodendroglioma

Adult Brain Oligodendroglioma

Grade Ii Adult Oligodendroglial Tumor

Oligodendroglioma, Adult

Bladder Cancer

Urinary Bladder Cancer

Bladder Carcinoma

Urinary Bladder Carcinoma

Bladder Neoplasm

Bladder Tumor

Cancer, Bladder

Malignant Neoplasm Of Urinary Bladder

Carcinoma Of Bladder

Bladder Cancer, Somatic

Tumor Of The Bladder

Carcinoma Of Urinary Bladder

Bladder Carcinoma Urinary

Cancer Of The Urinary Bladder

Cancer, Urinary Bladder

Malignant Bladder Neoplasm

Malignant Bladder Tumor

Neoplasm Of The Bladder

Neoplasm Of The Urinary Bladder

Tumor Of The Urinary Bladder

Urinary Bladder Neoplasm

BLC

Urothelial Carcinoma Of The Bladder

Bladder Tumors

Urinary Bladder Neoplasms

Bladder Cancer Nos

Vesical Cancer Nos

Malignant Neoplasm Of Bladder, Part Unspecified

Malignant Tumour Of Urinary Bladder

Primary Malignant Neoplasm Of Bladder

Normosmic Congenital Hypogonadotropic Hypogonadism

Normosmic Idiopathic Hypogonadotropic Hypogonadism

Nihh

Jackson-Weiss Syndrome

JWS

Craniosynostosis, Midfacial Hypoplasia, And Foot Abnormalities

Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities Syndrome

Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities

Childhood Pilocytic Astrocytoma

Pediatric Pilocytic Astrocytoma

Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Sensorineural Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

Tooth Agenesis

Oligodontia

Hypodontia

Selective Tooth Agenesis

Tooth Agenesis, Selective

Familial Tooth Agenesis

Anodontia

Congenital Absence Of One Tooth

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Muenke Syndrome

Muenke Nonsyndromic Coronal Craniosynostosis

Fgfr3-Related Craniosynostosis

Fgfr3-Associated Coronal Synostosis

Coronal Craniosynostosis

MNKES

Syndrome Of Coronal Craniosynostosis

MNKS

Fgfr3-Related Isolated Coronal Synostosis

Muenke Non-Syndromic Coronal Craniosynostosis

Beare-Stevenson Cutis Gyrata Syndrome

Cutis Gyrata Syndrome Of Beare And Stevenson

Beare-Stevenson Syndrome

BSTVS

Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome

Beare Stevenson Syndrome

Cutis Gyrata - Acanthosis Nigricans - Craniosynostosis

Cutis Gyrata Syndrome Of Beare-Stevenson

Leukemia, Acute Myeloid

Acute Myeloid Leukemia

Leukemia, Acute Myelogenous

Acute Myelogenous Leukemia

AML

Leukemia, Acute Myeloid, Susceptibility To

Acute Myeloblastic Leukemia

Leukemia, Acute Myeloid, Reduced Survival In, Somatic

Acute Myeloid Leukaemia

Leukemia, Myelocytic, Acute

Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

Secondary Aml

Acute Myelocytic Leukemia

Leukemia, Myeloid, Acute

Acute Myeloid Leukemia, Somatic

Leukemia, Acute Myeloid, Somatic

Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

Acute Myeloblastic Leukaemia

Acute Myelogenous Leukaemia

Aml - Acute Myeloid Leukemia

Acute Myeloid Leukemia With Cebpa Somatic Mutations

Aml With Cebpa Somatic Mutations

Inherited Acute Myeloid Leukemia

Familial Aml

Inherited Aml

Pure Familial Aml

Pure Familial Acute Myeloid Leukemia

Secondary Acute Myeloid Leukemia

Therapy-Related Aml And Myelodysplastic Syndrome

Acute Myeloid Leukemia, Secondary

Acute Non-Lymphoblastic Leukemia

Acute Non-Lymphocytic Leukemia

Acute Biphenotypic Leukemia

Acute Undifferentiated Leukemia

Acute Myeloblastic Leukaemia With Multilineage Dysplasia

Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Myelofibrosis

Primary Myelofibrosis

Agnogenic Myeloid Metaplasia

Idiopathic Myelofibrosis

Myeloid Metaplasia

Myelofibrosis With Myeloid Metaplasia

Osteomyelofibrosis

Megakaryocytic Myelosclerosis

Myelosclerosis

Chronic Idiopathic Myelofibrosis

Myelofibrosis, Idiopathic

Myelofibrosis With Myeloid Metaplasia, Somatic

Myelofibrosis, Somatic

Aleukemic Myelosis

Bone Marrow Fibrosis

MYELOF

MMM

Agnogenic Myeloid Metaplasia With Myelofibrosis

Ammm

Myelosclerosis With Myeloid Metaplasia

Myelofibrosis Nos

Hydrocephalus

Hydrocephalus, Nonsyndromic, Autosomal Recessive

Hydrocephalus, X-Linked

Hydrocephalus Adverse Event

Hydrocephaly Nos

Lipomatosis

Benign Symmetrical Lipomatosis

Myeloid And Lymphoid Neoplasms Associated With Fgfr1 Abnormalities
Rosette-Forming Glioneuronal Tumor

Rgnt

Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

Chronic Eosinophilic Leukemia

Pdgfra-Associated Chronic Eosinophilic Leukemia

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Bladder Urothelial Carcinoma

Bladder Transitional Cell Carcinoma

Transitional Cell Carcinoma Of Bladder

Transitional Cell Carcinoma Of The Bladder

Urinary Bladder Urothelial Carcinoma

Urothelial Bladder Carcinoma

Carcinoma Transitional Cell Bladder

Tcc - [Transitional Cell Carcinoma] Of Bladder

Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour

Essential Thrombocythemia

Essential Thrombocytosis

Familial Thrombocytosis

Hemorrhagic Thrombocythemia

Hereditary Thrombocythemia

Primary Thrombocytosis

Idiopathic Thrombocythemia

Primary Thrombocythemia

Thrombocythemia, Essential

Essential Thrombocythaemia

Et

Familial Thrombocythemia

Thrombocythemia Essential

Gastric Adenocarcinoma

Adenocarcinoma Of Stomach

Stomach Adenocarcinoma

Adenocarcinoma Gastric

Intestinal Type Adenocarcinoma Of Unspecified Site

Diffuse Type Adenocarcinoma Of Unspecified Site

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta FGFR1 VGNC VGNC:72651
Mus musculus FGFR1 MGD MGI:95522
Bos taurus FGFR1 VGNC VGNC:50179
Rattus norvegicus FGFR1 RGD RGD:620713
Felis catus FGFR1 VGNC VGNC:62258
Canis familiaris FGFR1 VGNC VGNC:40856
Others FGFR1 NCBI