HJCYS
MCID: HJD001
MIFTS: 64

Hajdu-Cheney Syndrome (HJCYS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Hajdu-Cheney Syndrome

MalaCards integrated aliases for Hajdu-Cheney Syndrome:

Name: Hajdu-Cheney Syndrome 57 11 19 42 58 75 73 28 5 43 14 38 71
Acroosteolysis with Osteoporosis and Changes in Skull and Mandible 57 11 19 42 58 73
Arthrodentoosteodysplasia 57 11 19 42 58 73
Cheney Syndrome 57 11 19 42 58 73
Serpentine Fibula-Polycystic Kidney Syndrome 57 11 42 73
Acroosteolysis Dominant Type 19 42 58 71
Hjcys 57 11 42 73
Sfpks 57 11 42 73
Hereditary Osteodysplasia with Acro-Osteolysis 42
Serpentine Fibula-Polycystic Kidneys Syndrome 19
Cranioskeletal Dysplasia with Acro-Osteolysis 42
Serpentine Fibula Polycystic Kidney Syndrome 71
Arthro-Dento-Osteo Dysplasia 42
Serpentine Fibula Syndrome 73
Familial Osteodysplasia 42
Acro-Osteolysis 43
Hcs 73

Characteristics:


Inheritance:

Autosomal dominant 58 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Childhood,Infancy 58

Age Of Death:

normal life expectancy 58

Classifications:

Orphanet: 58  
Rare renal diseases
Rare systemic and rhumatological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Hajdu-Cheney Syndrome

MedlinePlus Genetics: 42 Hajdu-Cheney syndrome is a rare disorder that can affect many parts of the body, particularly the bones. Loss of bone tissue from the hands and feet (acro-osteolysis) is a characteristic feature of the condition. The fingers and toes are short and broad, and they may become shorter over time as bone at the tips continues to break down. Bone loss in the fingers can interfere with fine motor skills, such as picking up small objects.Bone abnormalities throughout the body are common in Hajdu-Cheney syndrome. Affected individuals develop osteoporosis, which causes the bones to be brittle and prone to fracture. Many affected individuals experience breakage (compression fractures) of the spinal bones (vertebrae). Some also develop abnormal curvature of the spine (scoliosis or kyphosis). Hajdu-Cheney syndrome also affects the shape and strength of the long bones in the arms and legs. The abnormalities associated with this condition lead to short stature.Hajdu-Cheney syndrome also causes abnormalities of the skull bones, including the bones of the face. The shape of the skull is often described as dolichocephalic, which means it is elongated from back to front. In many affected individuals, the bone at the back of the skull bulges outward, causing a bump called a prominent occiput. Distinctive facial features associated with this condition include widely spaced and downward-slanting eyes, eyebrows that grow together in the middle (synophrys), low-set ears, a sunken appearance of the middle of the face (midface hypoplasia), and a large space between the nose and upper lip (a long philtrum). Some affected children are born with an opening in the roof of the mouth called a cleft palate or with a high arched palate. In affected adults, the facial features are often described as "coarse."Other features of Hajdu-Cheney syndrome found in some affected individuals include joint abnormalities, particularly an unusually large range of joint movement (hypermobility); dental problems; hearing loss; a deep, gravelly voice; excess body hair; recurrent infections in childhood; heart defects; and kidney abnormalities such as the growth of multiple fluid-filled cysts (polycystic kidneys). Some people with this condition have delayed development in childhood, but the delays are usually mild.The most serious complications of Hajdu-Cheney syndrome, which occur in about half of all affected individuals, are abnormalities known as platybasia and basilar invagination. Platybasia is a flattening of the base of the skull caused by thinning and softening of the skull bones. Basilar invagination occurs when the softened bones allow part of the spine to protrude abnormally through the opening at the bottom of the skull, pushing into the lower parts of the brain. These abnormalities can lead to severe neurological problems, including headaches, abnormal vision and balance, a buildup of fluid in the brain (hydrocephalus), abnormal breathing, and sudden death.The signs and symptoms of Hajdu-Cheney syndrome vary greatly among affected individuals, even among members of the same family. Many of the disorder's features, such as acro-osteolysis and some of the characteristic facial features, are not present at birth but become apparent in childhood or later. The risk of developing platybasia and basilar invagination also increases over time.The features of Hajdu-Cheney syndrome overlap significantly with those of a condition called serpentine fibula-polycystic kidney syndrome (SFPKS). Although they used to be considered separate disorders, researchers discovered that the two conditions are associated with mutations in the same gene. Based on these similarities, many researchers now consider Hajdu-Cheney syndrome and SFPKS to be variants of the same condition.

MalaCards based summary: Hajdu-Cheney Syndrome, also known as acroosteolysis with osteoporosis and changes in skull and mandible, is related to heart septal defect and ventricular septal defect. An important gene associated with Hajdu-Cheney Syndrome is NOTCH2 (Notch Receptor 2), and among its related pathways/superpathways are Gene expression (Transcription) and Disease. Affiliated tissues include bone, kidney and heart, and related phenotypes are osteopenia and skeletal dysplasia

GARD: 19 Acroosteolysis dominant type (AOD), also known as Hajdu-Cheney syndrome, is a condition characterized by bone abnormalities throughout the body. The signs and symptoms of this disorder vary greatly but may include osteoporosis (loss of bone mass), compression fractures, skull deformities, and curvature of the spine (scoliosis). The abnormalities associated with this condition may lead to short stature. Loss of bone (osteolysis) in the hands and feet is a characteristic feature of this condition. Other features of AOD may include distinctive facial features, loose joints, dental problems, excess body hair, recurrent infections, heart defects, and kidney abnormalities. AOD is caused by genetic changes in the NOTCH2 gene. The genetic change can be inherited from a parent, or it can be the result of a new genetic change in the affected individual.

OMIM®: 57 Hajdu-Cheney syndrome (HJCYS) is a rare autosomal dominant skeletal disorder characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies. Facial features include hypertelorism, bushy eyebrows, micrognathia, small mouth with dental anomalies, low-set ears, and short neck. There is progressive focal bone destruction, including acroosteolysis and generalized osteoporosis. Additional and variable features include hearing loss, renal cysts, and cardiovascular anomalies (summary by Ramos et al., 1998; Simpson et al., 2011; Isidor et al., 2011). (102500) (Updated 24-Oct-2022)

UniProtKB/Swiss-Prot: 73 A rare, autosomal dominant skeletal disorder characterized by the association of facial anomalies, acro-osteolysis, general osteoporosis, insufficient ossification of the skull, and periodontal disease (premature loss of permanent teeth). Other features include cleft palate, congenital heart defects, polycystic kidneys, orthopedic problems and anomalies of the genitalia, intestines and eyes.

Orphanet: 58 A rare autosomal dominant skeletal disorder, characterized by progressive bone resorption in the distal phalanges (acro-osteolysis), progressive osteoporosis, distinct craniofacial changes, dental anomalies, and occasional association with renal abnormalities.

Disease Ontology: 11 A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has material basis in heterozygous mutation in NOTCH2 on chromosome 1p12.

Wikipedia: 75 Hajdu-Cheney syndrome, also called acroosteolysis with osteoporosis and changes in skull and mandible,... more...

Related Diseases for Hajdu-Cheney Syndrome

Diseases related to Hajdu-Cheney Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 294)
# Related Disease Score Top Affiliating Genes
1 heart septal defect 30.7 NOTCH1 JAG1 HEY2
2 ventricular septal defect 30.6 NOTCH1 JAG1 HEY2
3 patent ductus arteriosus 1 30.6 NOTCH2 NOTCH1 JAG1
4 spondylocostal dysostosis 1, autosomal recessive 30.4 MESP2 LFNG HES7 DLL3
5 meningocele 30.4 NOTCH3 MESP2 HES7
6 scoliosis 30.0 TNFSF11 MESP2 LFNG JAG1 HES7 DLL3
7 dysostosis 29.3 NOTCH1 MESP2 LFNG HES7 DLL3 DLL1
8 lateral meningocele syndrome 29.1 NOTCH4 NOTCH3 NOTCH2 NOTCH1 MESP2 HEYL
9 alagille syndrome 1 27.1 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1 MESP2
10 osteodysplasia, familial, anderson type 11.6
11 premature aging syndrome, penttinen type 11.5
12 hypotonia-cystinuria syndrome 11.2
13 haim-munk syndrome 11.2
14 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 11.2
15 van bogaert-hozay syndrome 11.2
16 idiopathic phalangeal acro-osteolysis 11.2
17 singleton-merten syndrome 1 11.2
18 singleton-merten syndrome 2 11.2
19 warburg-cinotti syndrome 11.2
20 acroosteolysis 10.9
21 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.8
22 bone resorption disease 10.8
23 polycystic kidney disease 1 with or without polycystic liver disease 10.7
24 bone mineral density quantitative trait locus 15 10.7
25 osteoporosis 10.7
26 bone mineral density quantitative trait locus 8 10.7
27 bone disease 10.6
28 osteochondrodysplasia 10.6
29 cystic kidney disease 10.5
30 connective tissue disease 10.5
31 hydrocephalus 10.4
32 periodontitis 10.4
33 calcinosis 10.4
34 chondrosarcoma 10.4
35 polycystic kidney disease 10.4
36 syringomyelia 10.4
37 kidney disease 10.4
38 splenomegaly 10.4
39 idiopathic syringomyelia 10.4
40 acromegaloid changes, cutis verticis gyrata, and corneal leukoma 10.3
41 raynaud disease 10.3
42 neuropathy, hereditary sensory and autonomic, type iia 10.3
43 spondylolisthesis 10.3
44 melnick-needles syndrome 10.3
45 glomerulonephritis 10.3
46 vesicoureteral reflux 10.3
47 hypermobile ehlers-danlos syndrome 10.3
48 notch3-related lateral meningocele syndrome 10.3
49 metatarsus adductus 10.3
50 spondyloarthropathy 1 10.2

Graphical network of the top 20 diseases related to Hajdu-Cheney Syndrome:



Diseases related to Hajdu-Cheney Syndrome

Symptoms & Phenotypes for Hajdu-Cheney Syndrome

Human phenotypes related to Hajdu-Cheney Syndrome:

58 30 (show top 50) (show all 113)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000938
2 skeletal dysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002652
3 hypertelorism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000316
4 thick eyebrow 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000574
5 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004322
6 osteoporosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000939
7 micrognathia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000347
8 short toe 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001831
9 downslanted palpebral fissures 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000494
10 brachydactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001156
11 long philtrum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000343
12 periodontitis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000704
13 short distal phalanx of finger 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009882
14 osteolysis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002797
15 decreased skull ossification 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004331
16 partial absence of toe 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011305
17 macrocephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000256
18 scoliosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002650
19 short neck 58 30 Frequent (33%) Frequent (79-30%)
HP:0000470
20 coarse facial features 58 30 Frequent (33%) Frequent (79-30%)
HP:0000280
21 hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000365
22 open bite 58 30 Frequent (33%) Frequent (79-30%)
HP:0010807
23 anteverted nares 58 30 Frequent (33%) Frequent (79-30%)
HP:0000463
24 full cheeks 58 30 Frequent (33%) Frequent (79-30%)
HP:0000293
25 prominent occiput 58 30 Frequent (33%) Frequent (79-30%)
HP:0000269
26 abnormal fingernail morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0001231
27 arthralgia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002829
28 dolichocephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000268
29 narrow mouth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000160
30 downturned corners of mouth 58 30 Frequent (33%) Frequent (79-30%)
HP:0002714
31 recurrent fractures 58 30 Frequent (33%) Frequent (79-30%)
HP:0002757
32 joint hyperflexibility 58 30 Frequent (33%) Frequent (79-30%)
HP:0005692
33 generalized hirsutism 58 30 Frequent (33%) Frequent (79-30%)
HP:0002230
34 telecanthus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000506
35 platybasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002691
36 thin vermilion border 58 30 Frequent (33%) Frequent (79-30%)
HP:0000233
37 wormian bones 58 30 Frequent (33%) Frequent (79-30%)
HP:0002645
38 wide nose 58 30 Frequent (33%) Frequent (79-30%)
HP:0000445
39 bone pain 58 30 Frequent (33%) Frequent (79-30%)
HP:0002653
40 biconcave vertebral bodies 58 30 Frequent (33%) Frequent (79-30%)
HP:0004586
41 absent frontal sinuses 58 30 Frequent (33%) Frequent (79-30%)
HP:0002688
42 hypoplastic 5th lumbar vertebrae 58 30 Frequent (33%) Frequent (79-30%)
HP:0008424
43 chiari malformation 30 Frequent (33%) HP:0002308
44 failure to thrive 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001508
45 kyphosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002808
46 hydrocephalus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000238
47 cataract 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000518
48 splenomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001744
49 hepatomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002240
50 inguinal hernia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000023

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Growth Other:
failure to thrive

Head And Neck Neck:
short neck

Genitourinary External Genitalia Male:
inguinal hernia
hypospadias

Head And Neck Nose:
anteverted nares
broad nose

Head And Neck Face:
full cheeks
micrognathia
long philtrum
coarse facies

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Spine:
kyphoscoliosis
cervical instability
tall lumbar vertebral bodies
narrow disc space
biconcave vertebrae
more
Head And Neck Eyes:
telecanthus
synophrys
long eyelashes
downslanting palpebral fissures
epicanthal folds
more
Skin Nails Hair Hair:
synophrys
long eyelashes
thick eyebrows
thick, straight hair

Skeletal Hands:
crowded carpal bones
pseudoclubbing
short distal digits
acroosteolysis

Head And Neck Mouth:
high-arched palate

Cardiovascular Heart:
congenital heart disease (variable)
septal defects

Genitourinary Kidneys:
renal cysts

Skin Nails Hair Nails:
short nails
curved nails

Neurologic Central Nervous System:
hydrocephalus
normal intelligence

Skeletal:
osteopenia
osteoporosis
joint laxity
pathologic fractures

Abdomen External Features:
umbilical hernia

Growth Height:
short stature

Skeletal Limbs:
genu valgum
joint laxity
dislocation of radial head
long, bowed fibulae
serpentine fibulae

Head And Neck Ears:
low-set ears
hearing loss, conductive
prominent ear lobes

Cardiovascular Vascular:
patent ductus arteriosus

Skeletal Skull:
wormian bones
elongated sella turcica
bathrocephaly
failure of suture ossification
thickened skull vault
more
Skin Nails Hair Skin:
hirsutism

Head And Neck Teeth:
malocclusion
early tooth loss

Head And Neck Head:
bathrocephaly

Abdomen Gastrointestinal:
intestinal malrotation (less common)

Skeletal Feet:
short distal digits
acroosteolysis

Clinical features from OMIM®:

102500 (Updated 24-Oct-2022)

MGI Mouse Phenotypes related to Hajdu-Cheney Syndrome:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.39 DLL1 DLL3 DLL4 HES7 HEY1 HEY2
2 nervous system MP:0003631 10.37 DLL1 DLL3 HEY1 HEY2 HEYL JAG1
3 muscle MP:0005369 10.36 DLL1 DLL3 DLL4 HEY1 HEY2 HEYL
4 normal MP:0002873 10.33 DLL1 DLL4 HEY1 HEYL JAG1 MESP2
5 embryo MP:0005380 10.28 DLL1 DLL3 DLL4 HES7 HEY1 HEY2
6 endocrine/exocrine gland MP:0005379 10.13 DLL1 DLL4 JAG1 JAG2 LFNG NOTCH1
7 cardiovascular system MP:0005385 10.13 DLL1 DLL4 HEY1 HEY2 HEYL JAG1
8 limbs/digits/tail MP:0005371 10.1 DLL1 DLL3 HES7 JAG2 LFNG MESP2
9 no phenotypic analysis MP:0003012 10.08 HEYL JAG1 JAG2 LFNG MESP2 NOTCH2
10 hearing/vestibular/ear MP:0005377 10.02 DLL1 DLL3 JAG1 JAG2 LFNG NOTCH1
11 craniofacial MP:0005382 9.97 DLL3 HEY1 HEY2 JAG1 JAG2 NOTCH1
12 skeleton MP:0005390 9.93 DLL1 DLL3 HES7 JAG1 JAG2 LFNG
13 respiratory system MP:0005388 9.86 HEY2 JAG2 LFNG NOTCH1 NOTCH2 NOTCH3
14 vision/eye MP:0005391 9.61 DLL3 DLL4 JAG1 LFNG NOTCH1 NOTCH2
15 mortality/aging MP:0010768 9.55 DLL1 DLL3 DLL4 HES7 HEY1 HEY2

Drugs & Therapeutics for Hajdu-Cheney Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Measurement Properties and Performance of Functional Exercise Tests in Patients With Systemic Sclerosis Active, not recruiting NCT04650659

Search NIH Clinical Center for Hajdu-Cheney Syndrome

Cochrane evidence based reviews: hajdu-cheney syndrome

Genetic Tests for Hajdu-Cheney Syndrome

Genetic tests related to Hajdu-Cheney Syndrome:

# Genetic test Affiliating Genes
1 Hajdu-Cheney Syndrome 28 NOTCH2

Anatomical Context for Hajdu-Cheney Syndrome

Organs/tissues related to Hajdu-Cheney Syndrome:

MalaCards : Bone, Kidney, Heart, Brain, Skin, Spinal Cord, B Cells
ODiseA: Kidney

Publications for Hajdu-Cheney Syndrome

Articles related to Hajdu-Cheney Syndrome:

(show top 50) (show all 199)
# Title Authors PMID Year
1
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome. 62 57 5
21712856 2012
2
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. 62 57 5
21378985 2011
3
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. 62 57 5
21378989 2011
4
Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients. 62 57 5
17159511 2007
5
Serpentine fibula syndrome: expansion of the phenotype with three affected siblings. 62 57 5
8723560 1996
6
End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome. 62 5
27312922 2016
7
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome. 62 57
21681853 2011
8
Hajdu--Cheney syndrome: evolution of phenotype and clinical problems. 62 57
11343321 2001
9
Further evidence that the Hajdu-Cheney syndrome and the "serpentine fibula-polycystic kidney syndrome" are a single entity. 62 57
9714016 1998
10
Serpentine fibula syndrome: a variant clinical presentation of Hajdu-Cheney syndrome? 62 57
9220203 1997
11
Vocal cord paralysis and cystic kidney disease in Hajdu-Cheney syndrome. 62 57
9184252 1997
12
Cystic kidney disease in Hajdu-Cheney syndrome. 62 57
7747781 1995
13
Hajdu-Cheney syndrome. 62 57
8203959 1994
14
Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders. 62 57
8276023 1993
15
Hydrocephalus in Hajdu-Cheney syndrome. 62 57
8445627 1993
16
Hajdu-Cheney syndrome: MR imaging. 62 57
1749477 1991
17
Serpentine fibula--polycystic kidney syndrome. A variant of the Melnick-Needles syndrome or a distinct entity? 62 57
3409932 1988
18
Idiopathic familial acroosteolysis: histomorphometric study of bone and literature review of the Hajdu-Cheney syndrome. 62 57
3527178 1986
19
Hereditary osteodysplasia with acro-osteolysis. (The Hajdu-Cheney syndrome). 62 57
707523 1978
20
The Hajdu-Cheney syndrome. Report of two cases and review of the literature. 62 57
1249686 1976
21
Arthro-dento-osteo dysplasia (Hajdu-Cheney syndrome). Review of a genetic "acro-osteolysis" syndrome. 62 57
4699178 1973
22
NOTCH2 mutations in Alagille syndrome. 5
22209762 2012
23
NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. 5
16773578 2006
24
Further delineation of Frank-ter Haar syndrome. 57
15523657 2004
25
PEST sequences and regulation by proteolysis. 5
8755249 1996
26
Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report. 57
7778598 1995
27
Melnick-Needles syndrome (osteodysplasty). Clinical and radiological heterogeneity. 57
3793511 1986
28
Melnick-Needles syndrome: indication for an autosomal recessive form. 57
7158646 1982
29
Idiopathic nonfamilial acro-osteolysis with cortical defects and mandibular ramus osteolysis. 57
959555 1976
30
The acro-osteolysis syndrome: Morphologic and biochemical studies. 57
1255314 1976
31
Familial acro-osteolysis. 57
4755026 1973
32
ACRO-OSTEOLYSIS. 57
14303950 1965
33
Cranio-skeletal dysplasia. 57
18918373 1948
34
Scoliosis Correction in an Adolescent With Hajdu-Cheney Syndrome: A Case Report. 62
36263282 2022
35
Progress and Current Status in Hajdu-Cheney Syndrome with Focus on Novel Genetic Research. 62
36232677 2022
36
Hajdu-Cheney Syndrome: A Novel NOTCH2 Mutation in a Spanish Child in Treatment with Vibrotherapy: A Case Report. 62
36079132 2022
37
Surgical management of high-grade lumbar spondylolisthesis associated with Hajdu-Cheney syndrome: illustrative case. 62
36088555 2022
38
Novel phenotypic feature in a patient with a recurrent NOTCH2 nonsense mutation. 62
35289498 2022
39
Nursing Care Plan for Patients with Hajdu-Cheney Syndrome. 62
35742738 2022
40
Premature Loss of Deciduous Teeth as a Symptom of Systemic Disease: A Narrative Literature Review. 62
35329073 2022
41
Hajdu-Cheney Syndrome: Report of a Case in Spain. 62
35328119 2022
42
Hairy and enhancer of split 1 is a primary effector of NOTCH2 signaling and induces osteoclast differentiation and function. 62
34742737 2021
43
Craniospinal Surgery in Hajdu-Cheney Syndrome: A Review of Case Reports. 62
35070539 2021
44
Hajdu Cheney syndrome; A novel NOTCH2 mutation in a Syrian child, and treatment with zolidronic acid: A case report and a literature review of treatments. 62
34840770 2021
45
Skeletal characterization in a patient with Hajdu-Cheney syndrome undergoing total knee arthroplasty. 62
33742215 2021
46
Oral Surgery Procedures in a Patient with Hajdu-Cheney Syndrome Treated with Denosumab-A Rare Case Report. 62
34501688 2021
47
Operative Management of Spinal Deformity Secondary to Hajdu-Cheney Syndrome. 62
34567878 2021
48
Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature. 62
34217350 2021
49
Hajdu‑Cheney syndrome: the first case report in Poland? 62
33913674 2021
50
Hajdu-Cheney Syndrome: A Report on Successful Halting of Acro-osteolysis. 62
34019492 2021

Variations for Hajdu-Cheney Syndrome

ClinVar genetic disease variations for Hajdu-Cheney Syndrome:

5 (show top 50) (show all 378)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NOTCH2 NM_024408.4(NOTCH2):c.5123_5132delinsAGA (p.Ser1708_Leu1711delinsTer) INDEL Pathogenic
1028812 rs1649314295 GRCh37: 1:120464940-120464949
GRCh38: 1:119922317-119922326
2 NOTCH2 NM_024408.4(NOTCH2):c.3415del (p.Leu1139fs) DEL Pathogenic
1457269 GRCh37: 1:120480012-120480012
GRCh38: 1:119937389-119937389
3 NOTCH2 NM_024408.4(NOTCH2):c.2235_2236del (p.Cys745_Asp746delinsTer) MICROSAT Pathogenic
1451302 GRCh37: 1:120496295-120496296
GRCh38: 1:119953672-119953673
4 NOTCH2 NM_024408.4(NOTCH2):c.6909del (p.Ile2304fs) DEL Pathogenic
Pathogenic/Likely Pathogenic
623649 rs771237928 GRCh37: 1:120458436-120458436
GRCh38: 1:119915813-119915813
5 NOTCH2 NM_024408.4(NOTCH2):c.7078C>T (p.Gln2360Ter) SNV Pathogenic
518449 rs1553193485 GRCh37: 1:120458267-120458267
GRCh38: 1:119915644-119915644
6 NOTCH2 NM_024408.4(NOTCH2):c.7165C>T (p.Gln2389Ter) SNV Pathogenic
30061 rs387906749 GRCh37: 1:120458180-120458180
GRCh38: 1:119915557-119915557
7 NOTCH2 NM_024408.4(NOTCH2):c.6895G>T (p.Glu2299Ter) SNV Pathogenic
30060 rs387906748 GRCh37: 1:120458450-120458450
GRCh38: 1:119915827-119915827
8 NOTCH2 NM_024408.4(NOTCH2):c.6949C>T (p.Gln2317Ter) SNV Pathogenic
30059 rs387906747 GRCh37: 1:120458396-120458396
GRCh38: 1:119915773-119915773
9 NOTCH2 NM_024408.4(NOTCH2):c.7119T>G (p.Tyr2373Ter) SNV Pathogenic
30058 rs1557801639 GRCh37: 1:120458226-120458226
GRCh38: 1:119915603-119915603
10 NOTCH2 NM_024408.4(NOTCH2):c.6622C>T (p.Gln2208Ter) SNV Pathogenic
30057 rs387906746 GRCh37: 1:120458723-120458723
GRCh38: 1:119916100-119916100
11 NOTCH2 NOTCH2, 1-BP DEL, 6460T DEL Pathogenic
30056 GRCh37:
GRCh38:
12 NOTCH2 NM_024408.4(NOTCH2):c.6272del (p.Phe2091fs) DEL Pathogenic
30055 rs1557802353 GRCh37: 1:120459073-120459073
GRCh38: 1:119916450-119916450
13 NOTCH2 NM_024408.4(NOTCH2):c.4174C>T (p.Gln1392Ter) SNV Pathogenic
845754 rs1649449471 GRCh37: 1:120468265-120468265
GRCh38: 1:119925642-119925642
14 NOTCH2 NM_024408.4(NOTCH2):c.1668C>A (p.Cys556Ter) SNV Pathogenic
1068831 GRCh37: 1:120508089-120508089
GRCh38: 1:119965466-119965466
15 NOTCH2 NM_024408.4(NOTCH2):c.5345del (p.Asp1782fs) DEL Pathogenic
463175 rs1553193977 GRCh37: 1:120462986-120462986
GRCh38: 1:119920363-119920363
16 NOTCH2 NM_024408.4(NOTCH2):c.6877del (p.His2293fs) DEL Pathogenic
976082 rs1649047546 GRCh37: 1:120458468-120458468
GRCh38: 1:119915845-119915845
17 NOTCH2 NM_024408.4(NOTCH2):c.7090del (p.Gln2364fs) DEL Pathogenic
973762 rs1649037695 GRCh37: 1:120458255-120458255
GRCh38: 1:119915632-119915632
18 NOTCH2 NM_024408.4(NOTCH2):c.6426_6427insTT (p.Glu2143fs) INSERT Pathogenic
951363 rs1649066485 GRCh37: 1:120458918-120458919
GRCh38: 1:119916295-119916296
19 NOTCH2 NM_024408.4(NOTCH2):c.6832dup (p.Thr2278fs) DUP Pathogenic
1685986 GRCh37: 1:120458512-120458513
GRCh38: 1:119915889-119915890
20 NOTCH2 NM_024408.4(NOTCH2):c.6449_6450del (p.Pro2150fs) DEL Pathogenic
463176 rs1553193574 GRCh37: 1:120458895-120458896
GRCh38: 1:119916272-119916273
21 NOTCH2 NM_024408.4(NOTCH2):c.6403_6404del (p.Leu2135fs) MICROSAT Pathogenic
946387 rs1649067817 GRCh37: 1:120458941-120458942
GRCh38: 1:119916318-119916319
22 NOTCH2 NM_024408.4(NOTCH2):c.6503del (p.Pro2168fs) DEL Pathogenic
571329 rs1557802165 GRCh37: 1:120458842-120458842
GRCh38: 1:119916219-119916219
23 NOTCH2 NM_024408.4(NOTCH2):c.6386del (p.Ser2129fs) DEL Pathogenic
1071238 GRCh37: 1:120458959-120458959
GRCh38: 1:119916336-119916336
24 NOTCH2 NM_024408.4(NOTCH2):c.6853C>T (p.Gln2285Ter) SNV Pathogenic/Likely Pathogenic
545566 rs1553193507 GRCh37: 1:120458492-120458492
GRCh38: 1:119915869-119915869
25 NOTCH2 NM_024408.4(NOTCH2):c.2653dup (p.His885fs) DUP Likely Pathogenic
1687415 GRCh37: 1:120491135-120491136
GRCh38: 1:119948512-119948513
26 NOTCH2 NM_024408.4(NOTCH2):c.6193_6194dup (p.Asn2066fs) DUP Likely Pathogenic
1687588 GRCh37: 1:120459150-120459151
GRCh38: 1:119916527-119916528
27 NOTCH2 NM_024408.4(NOTCH2):c.6919_6920del (p.Phe2307fs) DEL Likely Pathogenic
617549 rs1570654979 GRCh37: 1:120458425-120458426
GRCh38: 1:119915802-119915803
28 NOTCH2 NM_024408.4(NOTCH2):c.3508G>T (p.Gly1170Ter) SNV Likely Pathogenic
1177430 GRCh37: 1:120479919-120479919
GRCh38: 1:119937296-119937296
29 NOTCH2 NM_024408.4(NOTCH2):c.6586C>T (p.Gln2196Ter) SNV Likely Pathogenic
1329467 GRCh37: 1:120458759-120458759
GRCh38: 1:119916136-119916136
30 NOTCH2 NM_024408.4(NOTCH2):c.7198C>T (p.Arg2400Ter) SNV Conflicting Interpretations Of Pathogenicity
518450 rs1325403451 GRCh37: 1:120458147-120458147
GRCh38: 1:119915524-119915524
31 NOTCH2 NM_024408.4(NOTCH2):c.2560T>C (p.Phe854Leu) SNV Uncertain Significance
1699294 GRCh37: 1:120491669-120491669
GRCh38: 1:119949046-119949046
32 NOTCH2 NM_024408.4(NOTCH2):c.4639C>G (p.Leu1547Val) SNV Uncertain Significance
532028 rs1241715192 GRCh37: 1:120466480-120466480
GRCh38: 1:119923857-119923857
33 NOTCH2 NM_024408.4(NOTCH2):c.3652C>T (p.Arg1218Trp) SNV Uncertain Significance
532029 rs587641573 GRCh37: 1:120478098-120478098
GRCh38: 1:119935475-119935475
34 NOTCH2 NM_024408.4(NOTCH2):c.6956C>T (p.Ala2319Val) SNV Uncertain Significance
196925 rs373527990 GRCh37: 1:120458389-120458389
GRCh38: 1:119915766-119915766
35 NOTCH2 NM_024408.4(NOTCH2):c.6916A>T (p.Thr2306Ser) SNV Uncertain Significance
573584 rs1557801809 GRCh37: 1:120458429-120458429
GRCh38: 1:119915806-119915806
36 NOTCH2 NM_024408.4(NOTCH2):c.6118G>A (p.Asp2040Asn) SNV Uncertain Significance
289384 rs748876258 GRCh37: 1:120459227-120459227
GRCh38: 1:119916604-119916604
37 NOTCH2 NM_024408.4(NOTCH2):c.1280G>A (p.Cys427Tyr) SNV Uncertain Significance
581721 rs1557825800 GRCh37: 1:120510229-120510229
GRCh38: 1:119967606-119967606
38 NOTCH2 NM_024408.4(NOTCH2):c.6893G>A (p.Arg2298Gln) SNV Uncertain Significance
Likely Benign
291198 rs140832430 GRCh37: 1:120458452-120458452
GRCh38: 1:119915829-119915829
39 NOTCH2 NM_024408.4(NOTCH2):c.6160A>G (p.Met2054Val) SNV Uncertain Significance
648134 rs774262327 GRCh37: 1:120459185-120459185
GRCh38: 1:119916562-119916562
40 NOTCH2 NM_024408.4(NOTCH2):c.5731C>T (p.Arg1911Cys) SNV Uncertain Significance
623701 rs748716440 GRCh37: 1:120461985-120461985
GRCh38: 1:119919362-119919362
41 NOTCH2 NM_024408.4(NOTCH2):c.6251T>A (p.Ile2084Asn) SNV Uncertain Significance
290966 rs757880322 GRCh37: 1:120459094-120459094
GRCh38: 1:119916471-119916471
42 NOTCH2 NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln) SNV Uncertain Significance
134965 rs146014987 GRCh37: 1:120480611-120480611
GRCh38: 1:119937988-119937988
43 NOTCH2 NM_024408.4(NOTCH2):c.1957C>A (p.Pro653Thr) SNV Uncertain Significance
522754 rs1553198769 GRCh37: 1:120502084-120502084
GRCh38: 1:119959461-119959461
44 NOTCH2 NM_024408.4(NOTCH2):c.3878G>A (p.Arg1293His) SNV Uncertain Significance
502782 rs201968231 GRCh37: 1:120471613-120471613
GRCh38: 1:119928990-119928990
45 NOTCH2 NM_024408.4(NOTCH2):c.4114C>T (p.Arg1372Trp) SNV Uncertain Significance
134974 rs587778575 GRCh37: 1:120468325-120468325
GRCh38: 1:119925702-119925702
46 NOTCH2 NM_024408.4(NOTCH2):c.5871G>A (p.Glu1957=) SNV Uncertain Significance
196792 rs587718458 GRCh37: 1:120461087-120461087
GRCh38: 1:119918464-119918464
47 NOTCH2 NM_024408.4(NOTCH2):c.2785G>A (p.Gly929Arg) SNV Uncertain Significance
1017215 rs199585130 GRCh37: 1:120484345-120484345
GRCh38: 1:119941722-119941722
48 NOTCH2 NM_024408.4(NOTCH2):c.3520G>A (p.Glu1174Lys) SNV Uncertain Significance
502758 rs782318679 GRCh37: 1:120479907-120479907
GRCh38: 1:119937284-119937284
49 NOTCH2 NM_024408.4(NOTCH2):c.2945T>C (p.Val982Ala) SNV Uncertain Significance
650161 rs992092842 GRCh37: 1:120484185-120484185
GRCh38: 1:119941562-119941562
50 NOTCH2 NM_024408.4(NOTCH2):c.1915+2dup DUP Uncertain Significance
656195 rs1570696957 GRCh37: 1:120506194-120506195
GRCh38: 1:119963571-119963572

Expression for Hajdu-Cheney Syndrome

Search GEO for disease gene expression data for Hajdu-Cheney Syndrome.

Pathways for Hajdu-Cheney Syndrome

Pathways related to Hajdu-Cheney Syndrome according to GeneCards Suite gene sharing:

(show all 38)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.99 ZNF546 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1
2
Show member pathways
13.84 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1 LFNG
3 13.81 DLL1 DLL4 HEY1 HEY2 HEYL JAG1
4
Show member pathways
13.41 RBPJ NOTCH1 JAG2 JAG1 HEYL HEY2
5
Show member pathways
13.22 TNFSF11 NOTCH4 NOTCH3 NOTCH2 NOTCH1 DLL1
6
Show member pathways
12.89 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1 LFNG
7
Show member pathways
12.84 RBPJ NOTCH1 JAG2 JAG1 HEYL HEY2
8
Show member pathways
12.7 NOTCH4 NOTCH3 NOTCH2 NOTCH1 LFNG
9
Show member pathways
12.64 TNFSF11 NOTCH4 NOTCH3 NOTCH2 NOTCH1 JAG2
10 12.5 NOTCH4 NOTCH3 NOTCH2 NOTCH1
11
Show member pathways
12.39 RBPJ NOTCH3 NOTCH2 NOTCH1 JAG2 JAG1
12 12.2 DLL1 DLL3 DLL4 HEY1 JAG1 RBPJ
13
Show member pathways
12.19 NOTCH4 NOTCH3 NOTCH2 NOTCH1 LFNG
14 12.17 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1
16
Show member pathways
12.05 RBPJ NOTCH1 LFNG JAG2 JAG1 HEY2
17 12.03 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1 HEY2
18 12.01 NOTCH4 NOTCH3 NOTCH2 NOTCH1
19 12 NOTCH4 NOTCH3 NOTCH2 NOTCH1 JAG1 DLL4
20 11.87 DLL1 DLL3 DLL4 JAG1 JAG2 LFNG
21 11.86 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1 JAG2
22
Show member pathways
11.82 RBPJ NOTCH3 NOTCH1 JAG2 JAG1 HEYL
23
Show member pathways
11.8 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1 LFNG
24 11.69 NOTCH1 JAG1 HEY1 DLL1
25 11.67 DLL1 DLL3 DLL4 HEY1 JAG1 JAG2
26 11.62 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1 LFNG
27 11.59 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1 JAG2
28 11.58 RBPJ NOTCH1 JAG2 JAG1
29 11.57 HEY1 HEY2 NOTCH1 RBPJ
30 11.5 NOTCH1 HEY2 HEY1
31 11.49 RBPJ NOTCH1 DLL1
32 11.47 RBPJ NOTCH4 NOTCH1 DLL4
33 11.42 NOTCH4 NOTCH3 NOTCH2 NOTCH1
34 11.35 DLL4 JAG1 NOTCH3
35
Show member pathways
11.31 DLL1 DLL3 HES7 LFNG MESP2 NOTCH1
36 11.18 NOTCH1 JAG2 JAG1 DLL4 DLL3 DLL1
37 10.87 NOTCH1 JAG1

GO Terms for Hajdu-Cheney Syndrome

Cellular components related to Hajdu-Cheney Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.8 ZNF546 TNFSF11 NOTCH4 NOTCH3 NOTCH2 NOTCH1
2 membrane GO:0016021 9.8 ZNF546 TNFSF11 NOTCH4 NOTCH3 NOTCH2 NOTCH1
3 MAML1-RBP-Jkappa- ICN1 complex GO:0002193 9.26 RBPJ NOTCH1

Biological processes related to Hajdu-Cheney Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 95)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.7 HEYL HEY2 HEY1 HES7 MESP2 NOTCH1
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.67 DLL1 HEY1 HEY2 HEYL JAG1 NOTCH1
3 negative regulation of transcription by RNA polymerase II GO:0000122 10.61 DLL4 HES7 HEY1 HEY2 HEYL NOTCH1
4 negative regulation of DNA-templated transcription GO:0045892 10.5 HEY1 HEY2 HEYL NOTCH1 HES7 RBPJ
5 positive regulation of gene expression GO:0010628 10.46 TNFSF11 RBPJ NOTCH1 HEY2 HEY1 DLL4
6 cell differentiation GO:0030154 10.46 DLL1 DLL3 DLL4 JAG2 NOTCH1 NOTCH2
7 negative regulation of gene expression GO:0010629 10.44 HEY2 HEYL NOTCH1 NOTCH2 DLL4
8 angiogenesis GO:0001525 10.39 DLL4 HEY1 JAG1 NOTCH1 RBPJ
9 regulation of DNA-templated transcription GO:0006355 10.37 HES7 HEY1 HEY2 HEYL MESP2 NOTCH1
10 anterior/posterior pattern specification GO:0009952 10.33 HEYL HEY2 HEY1 HES7
11 hemopoiesis GO:0030097 10.29 RBPJ NOTCH4 NOTCH2 JAG1 DLL1
12 outflow tract morphogenesis GO:0003151 10.27 HEY2 HEYL NOTCH1 RBPJ
13 negative regulation of Notch signaling pathway GO:0045746 10.26 HEY2 HEY1 DLL4 DLL1
14 negative regulation of neuron differentiation GO:0045665 10.26 NOTCH3 NOTCH1 JAG1 HEY1 DLL1
15 heart looping GO:0001947 10.24 NOTCH2 NOTCH1 DLL1
16 somitogenesis GO:0001756 10.24 RBPJ LFNG HES7 DLL3 DLL1
17 keratinocyte differentiation GO:0030216 10.23 RBPJ NOTCH1 JAG1
18 humoral immune response GO:0006959 10.23 NOTCH1 NOTCH2 RBPJ
19 animal organ morphogenesis GO:0009887 10.23 JAG1 LFNG NOTCH2 TNFSF11
20 epithelial to mesenchymal transition GO:0001837 10.23 NOTCH1 NOTCH4 RBPJ
21 T cell differentiation GO:0030217 10.22 LFNG JAG2 DLL4
22 positive regulation of BMP signaling pathway GO:0030513 10.22 NOTCH1 RBPJ NOTCH2
23 negative regulation of cell differentiation GO:0045596 10.22 RBPJ NOTCH4 NOTCH3 DLL1
24 blood vessel remodeling GO:0001974 10.21 RBPJ JAG1 DLL4
25 cell fate determination GO:0001709 10.21 NOTCH4 NOTCH2 JAG1 DLL1
26 positive regulation of Notch signaling pathway GO:0045747 10.21 DLL1 DLL4 JAG1 JAG2 LFNG NOTCH1
27 positive regulation of cardiac muscle cell proliferation GO:0060045 10.19 RBPJ NOTCH1 HEY2
28 ventricular septum morphogenesis GO:0060412 10.19 RBPJ NOTCH1 HEYL HEY2 HEY1
29 neuronal stem cell population maintenance GO:0097150 10.18 NOTCH1 JAG1 DLL1
30 inflammatory response to antigenic stimulus GO:0002437 10.18 NOTCH1 NOTCH2 RBPJ
31 aortic valve morphogenesis GO:0003180 10.18 NOTCH1 JAG1 HEYL HEY2 HEY1 DLL4
32 determination of left/right symmetry GO:0007368 10.17 NOTCH2 NOTCH1 DLL1
33 labyrinthine layer blood vessel development GO:0060716 10.16 RBPJ HEY2 HEY1
34 endocardial cushion morphogenesis GO:0003203 10.16 NOTCH1 HEYL HEY1
35 ventricular trabecula myocardium morphogenesis GO:0003222 10.16 DLL4 HEY2 NOTCH1 RBPJ
36 left/right axis specification GO:0070986 10.15 NOTCH2 NOTCH1 DLL1
37 cardiac epithelial to mesenchymal transition GO:0060317 10.15 HEY1 HEY2 HEYL NOTCH1
38 cardiac left ventricle morphogenesis GO:0003214 10.14 HEY2 NOTCH1 RBPJ
39 marginal zone B cell differentiation GO:0002315 10.14 DLL1 LFNG NOTCH2
40 negative regulation of biomineral tissue development GO:0070168 10.14 HEY1 HEY2 NOTCH1
41 positive regulation of transcription of Notch receptor target GO:0007221 10.13 RBPJ NOTCH4 NOTCH1
42 cardiac septum morphogenesis GO:0060411 10.13 HEY1 HEY2 JAG1 NOTCH1
43 regulation of neurogenesis GO:0050767 10.13 NOTCH1 HEYL HEY2 HEY1 HES7 DLL4
44 mesenchymal cell development GO:0014031 10.12 HEY2 HEYL NOTCH1
45 regulation of somitogenesis GO:0014807 10.12 DLL1 LFNG NOTCH1
46 Notch signaling pathway GO:0007219 10.12 DLL1 DLL3 DLL4 HES7 HEY1 HEY2
47 inhibition of neuroepithelial cell differentiation GO:0002085 10.11 NOTCH1 JAG1 DLL1
48 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 10.11 RBPJ NOTCH1 HEYL HEY2
49 neuron differentiation GO:0030182 10.1 RBPJ NOTCH3 NOTCH1 JAG1 DLL1
50 proximal tubule development GO:0072014 10.1 NOTCH2 HEYL DLL1

Molecular functions related to Hajdu-Cheney Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.91 DLL1 DLL3 DLL4 JAG1 JAG2 NOTCH1
2 protein dimerization activity GO:0046983 9.81 MESP2 HEYL HEY2 HEY1 HES7
3 Notch binding GO:0005112 9.47 NOTCH4 NOTCH1 JAG2 JAG1 DLL4 DLL3

Sources for Hajdu-Cheney Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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