HJCYS
MCID: HJD001
MIFTS: 64

Hajdu-Cheney Syndrome (HJCYS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Hajdu-Cheney Syndrome

MalaCards integrated aliases for Hajdu-Cheney Syndrome:

Name: Hajdu-Cheney Syndrome 56 12 74 52 25 58 73 36 29 13 6 43 15 39 71
Acroosteolysis with Osteoporosis and Changes in Skull and Mandible 56 12 52 25 58 73
Arthrodentoosteodysplasia 56 12 52 25 58 73
Cheney Syndrome 56 12 52 25 58 73
Serpentine Fibula-Polycystic Kidney Syndrome 56 12 25 73
Acroosteolysis Dominant Type 52 25 58 71
Hjcys 56 12 25 73
Sfpks 56 12 25 73
Serpentine Fibula-Polycystic Kidney Syndrome; Sfpks 56
Hereditary Osteodysplasia with Acro-Osteolysis 25
Serpentine Fibula-Polycystic Kidneys Syndrome 52
Cranioskeletal Dysplasia with Acro-Osteolysis 25
Serpentine Fibula Polycystic Kidney Syndrome 71
Arthro-Dento-Osteo Dysplasia 25
Serpentine Fibula Syndrome 73
Familial Osteodysplasia 25
Acrodentoosteodysplasia 58
Acro-Osteolysis 43
Hcs 73

Characteristics:

Orphanet epidemiological data:

58
acroosteolysis dominant type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
hajdu-cheney syndrome:
Inheritance autosomal dominant inheritance


Classifications:

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


Summaries for Hajdu-Cheney Syndrome

Genetics Home Reference : 25 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 patent ductus arteriosus 1 and meningocele. An important gene associated with Hajdu-Cheney Syndrome is NOTCH2 (Notch Receptor 2), and among its related pathways/superpathways are Notch signaling pathway and Signaling by GPCR. The drugs Treprostinil and Antihypertensive Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and heart, and related phenotypes are skeletal dysplasia and hypertelorism

Disease Ontology : 12 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.

NIH Rare Diseases : 52 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 mutations in the NOTCH2 gene . The mutation can be inherited from a parent, or it can be the result of a new mutation in the affected individual. Though osteoporosis and respiratory dysfunction can cause problems for individuals with this condition, life expectancy is typically normal.

OMIM : 56 Hajdu-Cheney syndrome 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)

KEGG : 36 Hajdu-Cheney Syndrome is a rare connective tissue disorder characterized by acro-osteolysis, osteoporotic changes of the spine/long bones of extremities, and insufficient ossification of the skull. Disturbed notch pathway that plays a role in bone formation leads to these anomalies.

UniProtKB/Swiss-Prot : 73 Hajdu-Cheney syndrome: 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.

Wikipedia : 74 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 335)
# Related Disease Score Top Affiliating Genes
1 patent ductus arteriosus 1 30.7 NOTCH2 NOTCH1 JAG1
2 meningocele 30.6 NOTCH3 MESP2 HES7
3 heart septal defect 30.4 NOTCH1 JAG1 HEY2
4 ventricular septal defect 30.3 NOTCH1 NFATC1 JAG1
5 scoliosis 29.9 TNFSF11 MESP2 LFNG HES7 DLL3
6 lateral meningocele syndrome 29.5 NOTCH3 MESP2 HEYL HEY2 HES7
7 dysostosis 29.5 TNFSF11 MESP2 LFNG HES7 DLL3
8 atrial heart septal defect 29.3 NOTCH1 JAG1 HEY2
9 alagille syndrome 1 26.7 RBPJ NOTCH3 NOTCH2 NOTCH1 MESP2 LFNG
10 idiopathic phalangeal acro-osteolysis 12.6
11 premature aging syndrome, penttinen type 12.3
12 osteodysplasia, familial, anderson type 12.0
13 holocarboxylase synthetase deficiency 11.9
14 primary hypertrophic osteoarthropathy 11.9
15 haim-munk syndrome 11.9
16 hypotonia-cystinuria syndrome 11.8
17 hemicrania continua 11.6
18 singleton-merten syndrome 1 11.5
19 mandibuloacral dysplasia with type a lipodystrophy 11.5
20 singleton-merten syndrome 2 11.5
21 warburg-cinotti syndrome 11.5
22 singleton-merten syndrome 11.5
23 van bogaert-hozay syndrome 11.5
24 zinc, elevated plasma 11.2
25 hemochromatosis, type 1 11.2
26 acroosteolysis 11.2
27 osteoporosis 10.9
28 bone mineral density quantitative trait locus 8 10.9
29 bone mineral density quantitative trait locus 15 10.9
30 bone resorption disease 10.9
31 systemic scleroderma 10.6
32 bone disease 10.6
33 cystic kidney disease 10.6
34 kidney disease 10.6
35 periodontitis 10.6
36 calcinosis 10.5
37 syringomyelia, noncommunicating isolated 10.5
38 melnick-needles syndrome 10.5
39 hydrocephalus 10.5
40 syringomyelia 10.5
41 raynaud phenomenon 10.5
42 tetanus 10.5
43 neuropathy, hereditary sensory and autonomic, type iia 10.5
44 pustulosis of palm and sole 10.5
45 psoriasis 10.5
46 polycystic kidney disease 10.4
47 glomerulonephritis 10.4
48 hypermobile ehlers-danlos syndrome 10.4
49 splenomegaly 10.4
50 oliver syndrome 10.4 RBPJ NOTCH1

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 31 (show top 50) (show all 112)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
2 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 thick eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0000574
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 osteolysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002797
6 osteopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000938
7 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
8 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
9 short toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0001831
10 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
11 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
12 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
13 periodontitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000704
14 short distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009882
15 decreased skull ossification 58 31 hallmark (90%) Very frequent (99-80%) HP:0004331
16 partial absence of toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0011305
17 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
18 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
19 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
20 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
21 open bite 58 31 frequent (33%) Frequent (79-30%) HP:0010807
22 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
23 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
24 full cheeks 58 31 frequent (33%) Frequent (79-30%) HP:0000293
25 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
26 prominent occiput 58 31 frequent (33%) Frequent (79-30%) HP:0000269
27 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
28 dolichocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000268
29 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
30 recurrent fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002757
31 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
32 generalized hirsutism 58 31 frequent (33%) Frequent (79-30%) HP:0002230
33 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
34 platybasia 58 31 frequent (33%) Frequent (79-30%) HP:0002691
35 arnold-chiari malformation 58 31 frequent (33%) Frequent (79-30%) HP:0002308
36 thin vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0000233
37 wormian bones 58 31 frequent (33%) Frequent (79-30%) HP:0002645
38 wide nose 58 31 frequent (33%) Frequent (79-30%) HP:0000445
39 bone pain 58 31 frequent (33%) Frequent (79-30%) HP:0002653
40 biconcave vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0004586
41 absent frontal sinuses 58 31 frequent (33%) Frequent (79-30%) HP:0002688
42 hypoplastic 5th lumbar vertebrae 58 31 frequent (33%) Frequent (79-30%) HP:0008424
43 abnormal fingernail morphology 31 frequent (33%) HP:0001231
44 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
45 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
46 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
47 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
48 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
49 bowing of the long bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0006487
50 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002205

Symptoms via clinical synopsis from OMIM:

56
Genitourinary External Genitalia Male:
inguinal hernia
hypospadias

Abdomen External Features:
umbilical hernia

Head And Neck Nose:
anteverted nares
broad nose

Growth Other:
failure to thrive

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

Skeletal:
osteopenia
osteoporosis
joint laxity
pathologic fractures

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

Head And Neck Neck:
short neck

Neurologic Central Nervous System:
hydrocephalus
normal intelligence

Growth Height:
short stature

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

Genitourinary Internal Genitalia Male:
cryptorchidism

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

MGI Mouse Phenotypes related to Hajdu-Cheney Syndrome:

45 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.41 DLL1 DLL3 HES7 HEY2 HEYL JAG1
2 embryo MP:0005380 10.37 DLL1 DLL3 HES7 HEY2 JAG1 JAG2
3 cardiovascular system MP:0005385 10.32 DLL1 HEY2 HEYL JAG1 LFNG MESP2
4 mortality/aging MP:0010768 10.31 DLL1 DLL3 HES7 HEY2 HEYL JAG1
5 homeostasis/metabolism MP:0005376 10.24 DLL1 HEY2 HEYL JAG1 JAG2 NFATC1
6 hematopoietic system MP:0005397 10.21 DLL1 JAG1 JAG2 LFNG NFATC1 NOTCH1
7 endocrine/exocrine gland MP:0005379 10.2 DLL1 JAG1 JAG2 LFNG NOTCH1 NOTCH2
8 craniofacial MP:0005382 10.18 DLL3 HEY2 JAG1 JAG2 NFATC1 NOTCH1
9 muscle MP:0005369 10.18 DLL1 DLL3 HEY2 HEYL JAG1 MESP2
10 nervous system MP:0003631 10.15 DLL1 DLL3 HEY2 HEYL JAG1 JAG2
11 integument MP:0010771 10.13 JAG1 JAG2 MESP2 NFATC1 NOTCH1 NOTCH2
12 digestive/alimentary MP:0005381 10.11 DLL1 JAG1 JAG2 NFATC1 NOTCH1 NOTCH2
13 limbs/digits/tail MP:0005371 10.11 DLL1 DLL3 HES7 JAG2 LFNG MESP2
14 hearing/vestibular/ear MP:0005377 10.07 DLL1 DLL3 JAG1 JAG2 LFNG NOTCH1
15 normal MP:0002873 9.91 DLL1 HEYL JAG1 MESP2 NOTCH1 NOTCH2
16 no phenotypic analysis MP:0003012 9.87 HEYL JAG1 JAG2 LFNG MESP2 NOTCH2
17 respiratory system MP:0005388 9.81 HEY2 JAG2 LFNG NFATC1 NOTCH1 NOTCH2
18 skeleton MP:0005390 9.77 DLL1 DLL3 HES7 JAG1 JAG2 LFNG
19 vision/eye MP:0005391 9.17 DLL3 JAG1 LFNG NOTCH1 NOTCH2 NOTCH3

Drugs & Therapeutics for Hajdu-Cheney Syndrome

Drugs for Hajdu-Cheney Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Treprostinil Approved, Investigational Phase 2 81846-19-7 6918140 54786
2 Antihypertensive Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Pilot Study to Evaluate the Safety and Efficacy of Oral Treprostinil in the Treatment of Calcinosis in Patients With Systemic Sclerosis Completed NCT02663895 Phase 2 Oral treprostinil

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 29 NOTCH2

Anatomical Context for Hajdu-Cheney Syndrome

MalaCards organs/tissues related to Hajdu-Cheney Syndrome:

40
Bone, Kidney, Heart, Eye, Brain, Skin, B Cells

Publications for Hajdu-Cheney Syndrome

Articles related to Hajdu-Cheney Syndrome:

(show top 50) (show all 167)
# Title Authors PMID Year
1
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome. 6 56 61
21712856 2012
2
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. 56 6 61
21378985 2011
3
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. 61 56 6
21378989 2011
4
Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients. 56 6 61
17159511 2007
5
Serpentine fibula syndrome: expansion of the phenotype with three affected siblings. 56 6 61
8723560 1996
6
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome. 56 61
21681853 2011
7
Hajdu--Cheney syndrome: evolution of phenotype and clinical problems. 61 56
11343321 2001
8
Further evidence that the Hajdu-Cheney syndrome and the "serpentine fibula-polycystic kidney syndrome" are a single entity. 56 61
9714016 1998
9
Serpentine fibula syndrome: a variant clinical presentation of Hajdu-Cheney syndrome? 56 61
9220203 1997
10
Vocal cord paralysis and cystic kidney disease in Hajdu-Cheney syndrome. 61 56
9184252 1997
11
Cystic kidney disease in Hajdu-Cheney syndrome. 56 61
7747781 1995
12
Hajdu-Cheney syndrome. 56 61
8203959 1994
13
Hydrocephalus in Hajdu-Cheney syndrome. 56 61
8445627 1993
14
Hajdu-Cheney syndrome: MR imaging. 56 61
1749477 1991
15
Idiopathic familial acroosteolysis: histomorphometric study of bone and literature review of the Hajdu-Cheney syndrome. 61 56
3527178 1986
16
Hereditary osteodysplasia with acro-osteolysis. (The Hajdu-Cheney syndrome). 61 56
707523 1978
17
The Hajdu-Cheney syndrome. Report of two cases and review of the literature. 61 56
1249686 1976
18
Arthro-dento-osteo dysplasia (Hajdu-Cheney syndrome). Review of a genetic "acro-osteolysis" syndrome. 56 61
4699178 1973
19
Further delineation of Frank-ter Haar syndrome. 56
15523657 2004
20
Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report. 56
7778598 1995
21
Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders. 56
8276023 1993
22
Serpentine fibula--polycystic kidney syndrome. A variant of the Melnick-Needles syndrome or a distinct entity? 56
3409932 1988
23
Melnick-Needles syndrome (osteodysplasty). Clinical and radiological heterogeneity. 56
3793511 1986
24
Melnick-Needles syndrome: indication for an autosomal recessive form. 56
7158646 1982
25
Idiopathic nonfamilial acro-osteolysis with cortical defects and mandibular ramus osteolysis. 56
959555 1976
26
The acro-osteolysis syndrome: Morphologic and biochemical studies. 56
1255314 1976
27
Familial acro-osteolysis. 56
4755026 1973
28
ACRO-OSTEOLYSIS. 56
14303950 1965
29
Cranio-skeletal dysplasia. 56
18918373 1948
30
Notch signaling regulates Akap12 expression and primary cilia length during renal tubule morphogenesis. 61
32474964 2020
31
Hand Deformities in Hajdu-Cheney Syndrome: A Case Series of 3 Patients Across 3 Consecutive Generations. 61
32241674 2020
32
Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review. 61
32143606 2020
33
Antisense oligonucleotides targeting Notch2 ameliorate the osteopenic phenotype in a mouse model of Hajdu-Cheney syndrome. 61
31992595 2020
34
Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations. 61
30980954 2020
35
Off-label uses of denosumab in metabolic bone diseases. 61
31454537 2019
36
The Hajdu Cheney mutation sensitizes mice to the osteolytic actions of tumor necrosis factor α. 61
31371452 2019
37
Correction to: Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review. 61
31077240 2019
38
Fatal case of Hajdu-Cheney syndrome with idiopathic pulmonary hemosiderosis. 61
30767323 2019
39
Phenotype variability in Hajdu-Cheney syndrome. 61
29698804 2019
40
Notch signaling suppresses glucose metabolism in mesenchymal progenitors to restrict osteoblast differentiation. 61
30284985 2018
41
A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation. 61
30329210 2018
42
Dental implications in Hajdu-Cheney syndrome: A novel case report and review of the literature. 61
29566451 2018
43
Mice harboring a Hajdu Cheney Syndrome mutation are sensitized to osteoarthritis. 61
29940267 2018
44
Extreme proximal junctional kyphosis-a complication of delayed lambdoid suture closure in Hajdu-Cheney syndrome: a case report and literature review. 61
29103128 2018
45
A case of Hajdu-Cheney syndrome associated with psoriatic rheumatism, two causes of acro-osteolysis. 61
28600213 2018
46
Induction of the Hajdu-Cheney Syndrome Mutation in CD19 B Cells in Mice Alters B-Cell Allocation but Not Skeletal Homeostasis. 61
29545197 2018
47
Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review. 61
29618366 2018
48
Clinical and experimental aspects of notch receptor signaling: Hajdu-Cheney syndrome and related disorders. 61
28941602 2018
49
An unusual presentation of intracranial meningioma in Hajdu-Cheney syndrome. 61
29547200 2018
50
Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome. 61
30420927 2018

Variations for Hajdu-Cheney Syndrome

ClinVar genetic disease variations for Hajdu-Cheney Syndrome:

6 (show top 50) (show all 76) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NOTCH2 NM_024408.4(NOTCH2):c.6909dup (p.Ile2304fs)duplication Pathogenic 223003 rs771237928 1:120458435-120458436 1:119915812-119915813
2 NOTCH2 NM_024408.4(NOTCH2):c.7165C>T (p.Gln2389Ter)SNV Pathogenic 30061 rs387906749 1:120458180-120458180 1:119915557-119915557
3 NOTCH2 NM_024408.4(NOTCH2):c.6895G>T (p.Glu2299Ter)SNV Pathogenic 30060 rs387906748 1:120458450-120458450 1:119915827-119915827
4 NOTCH2 NM_024408.4(NOTCH2):c.6949C>T (p.Gln2317Ter)SNV Pathogenic 30059 rs387906747 1:120458396-120458396 1:119915773-119915773
5 NOTCH2 NM_024408.4(NOTCH2):c.7119T>G (p.Tyr2373Ter)SNV Pathogenic 30058 rs1557801639 1:120458226-120458226 1:119915603-119915603
6 NOTCH2 NM_024408.4(NOTCH2):c.6622C>T (p.Gln2208Ter)SNV Pathogenic 30057 rs387906746 1:120458723-120458723 1:119916100-119916100
7 NOTCH2 NOTCH2, 1-BP DEL, 6460Tdeletion Pathogenic 30056
8 NOTCH2 NM_024408.4(NOTCH2):c.6272del (p.Phe2091fs)deletion Pathogenic 30055 rs1557802353 1:120459073-120459073 1:119916450-119916450
9 NOTCH2 NM_024408.4(NOTCH2):c.4174C>T (p.Gln1392Ter)SNV Pathogenic 845754 1:120468265-120468265 1:119925642-119925642
10 NOTCH2 NM_024408.4(NOTCH2):c.6909del (p.Ile2304fs)deletion Pathogenic 623649 rs771237928 1:120458436-120458436 1:119915813-119915813
11 NOTCH2 NM_024408.4(NOTCH2):c.6503del (p.Pro2168fs)deletion Pathogenic 571329 rs1557802165 1:120458842-120458842 1:119916219-119916219
12 NOTCH2 NM_024408.4(NOTCH2):c.7198C>T (p.Arg2400Ter)SNV Pathogenic 518450 rs1325403451 1:120458147-120458147 1:119915524-119915524
13 NOTCH2 NM_024408.4(NOTCH2):c.7078C>T (p.Gln2360Ter)SNV Pathogenic 518449 rs1553193485 1:120458267-120458267 1:119915644-119915644
14 NOTCH2 NM_024408.4(NOTCH2):c.6449_6450del (p.Pro2150fs)deletion Pathogenic 463176 rs1553193574 1:120458895-120458896 1:119916272-119916273
15 NOTCH2 NM_024408.4(NOTCH2):c.5345del (p.Asp1782fs)deletion Pathogenic 463175 rs1553193977 1:120462986-120462986 1:119920363-119920363
16 NOTCH2 NM_024408.4(NOTCH2):c.6853C>T (p.Gln2285Ter)SNV Pathogenic/Likely pathogenic 545566 rs1553193507 1:120458492-120458492 1:119915869-119915869
17 NOTCH2 NM_024408.4(NOTCH2):c.6919_6920del (p.Phe2307fs)deletion Likely pathogenic 617549 1:120458425-120458426 1:119915802-119915803
18 NOTCH2 NM_024408.4(NOTCH2):c.85C>T (p.Arg29Ter)SNV Likely pathogenic 801539 1:120572599-120572599 1:120029976-120029976
19 NOTCH2 NM_024408.4(NOTCH2):c.4740G>A (p.Lys1580=)SNV Conflicting interpretations of pathogenicity 195987 rs367699419 1:120466379-120466379 1:119923756-119923756
20 NOTCH2 NM_024408.4(NOTCH2):c.1804G>A (p.Ala602Thr)SNV Conflicting interpretations of pathogenicity 500000 rs140311741 1:120506308-120506308 1:119963685-119963685
21 NOTCH2 NM_024408.4(NOTCH2):c.1567+8C>TSNV Conflicting interpretations of pathogenicity 497431 rs372367275 1:120508991-120508991 1:119966368-119966368
22 NOTCH2 NM_024408.4(NOTCH2):c.3205C>A (p.Arg1069=)SNV Conflicting interpretations of pathogenicity 286426 rs61752485 1:120480612-120480612 1:119937989-119937989
23 NOTCH2 NM_024408.4(NOTCH2):c.956A>G (p.Asn319Ser)SNV Uncertain significance 289807 rs144936899 1:120512286-120512286 1:119969663-119969663
24 NOTCH2 NM_024408.4(NOTCH2):c.1280G>A (p.Cys427Tyr)SNV Uncertain significance 581721 rs1557825800 1:120510229-120510229 1:119967606-119967606
25 NOTCH2 NM_024408.4(NOTCH2):c.1915+2dupduplication Uncertain significance 656195 1:120506194-120506195 1:119963571-119963572
26 NOTCH2 NM_024408.4(NOTCH2):c.2945T>C (p.Val982Ala)SNV Uncertain significance 650161 1:120484185-120484185 1:119941562-119941562
27 NOTCH2 NM_024408.4(NOTCH2):c.6160A>G (p.Met2054Val)SNV Uncertain significance 648134 1:120459185-120459185 1:119916562-119916562
28 NOTCH2 NM_024408.4(NOTCH2):c.4304G>A (p.Arg1435Gln)SNV Uncertain significance 665564 1:120468135-120468135 1:119925512-119925512
29 NOTCH2 NM_024408.4(NOTCH2):c.5731C>T (p.Arg1911Cys)SNV Uncertain significance 623701 rs748716440 1:120461985-120461985 1:119919362-119919362
30 NOTCH2 NM_024408.4(NOTCH2):c.3878G>A (p.Arg1293His)SNV Uncertain significance 502782 rs201968231 1:120471613-120471613 1:119928990-119928990
31 NOTCH2 NM_024408.4(NOTCH2):c.3652C>T (p.Arg1218Trp)SNV Uncertain significance 532029 rs587641573 1:120478098-120478098 1:119935475-119935475
32 NOTCH2 NM_024408.4(NOTCH2):c.4639C>G (p.Leu1547Val)SNV Uncertain significance 532028 rs1241715192 1:120466480-120466480 1:119923857-119923857
33 NOTCH2 NM_024408.4(NOTCH2):c.5945A>G (p.His1982Arg)SNV Uncertain significance 532027 rs1553193747 1:120460370-120460370 1:119917747-119917747
34 NOTCH2 NM_024408.4(NOTCH2):c.1957C>A (p.Pro653Thr)SNV Uncertain significance 522754 rs1553198769 1:120502084-120502084 1:119959461-119959461
35 NOTCH2 NM_024408.4(NOTCH2):c.6956C>T (p.Ala2319Val)SNV Uncertain significance 196925 rs373527990 1:120458389-120458389 1:119915766-119915766
36 NOTCH2 NM_024408.4(NOTCH2):c.6916A>T (p.Thr2306Ser)SNV Uncertain significance 573584 rs1557801809 1:120458429-120458429 1:119915806-119915806
37 NOTCH2 NM_024408.4(NOTCH2):c.6118G>A (p.Asp2040Asn)SNV Uncertain significance 289384 rs748876258 1:120459227-120459227 1:119916604-119916604
38 NOTCH2 NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln)SNV Uncertain significance 134965 rs146014987 1:120480611-120480611 1:119937988-119937988
39 NOTCH2 NM_024408.4(NOTCH2):c.3143G>A (p.Arg1048His)SNV Uncertain significance 134964 rs142831890 1:120483218-120483218 1:119940595-119940595
40 NOTCH2 NM_024408.4(NOTCH2):c.4114C>T (p.Arg1372Trp)SNV Uncertain significance 134974 rs587778575 1:120468325-120468325 1:119925702-119925702
41 NOTCH2 NM_024408.4(NOTCH2):c.4778A>G (p.Tyr1593Cys)SNV Uncertain significance 864646 1:120466341-120466341 1:119923718-119923718
42 NOTCH2 NM_024408.4(NOTCH2):c.6893G>A (p.Arg2298Gln)SNV Uncertain significance 291198 rs140832430 1:120458452-120458452 1:119915829-119915829
43 NOTCH2 NM_024408.4(NOTCH2):c.6251T>A (p.Ile2084Asn)SNV Uncertain significance 290966 rs757880322 1:120459094-120459094 1:119916471-119916471
44 NOTCH2 NM_024408.4(NOTCH2):c.5218C>A (p.Leu1740Ile)SNV Uncertain significance 290858 rs747138507 1:120464428-120464428 1:119921805-119921805
45 NOTCH2 NM_024408.4(NOTCH2):c.5500T>C (p.Leu1834=)SNV Likely benign 730473 1:120462216-120462216 1:119919593-119919593
46 NOTCH2 NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile)SNV Likely benign 134977 rs17024517 1:120465262-120465262 1:119922639-119922639
47 NOTCH2 NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His)SNV Likely benign 134987 rs35586704 1:120458122-120458122 1:119915499-119915499
48 NOTCH2 NM_024408.4(NOTCH2):c.272G>T (p.Arg91Leu)SNV Likely benign 801537 1:120548095-120548095 1:120005472-120005472
49 NOTCH2 NM_024408.4(NOTCH2):c.751+325G>TSNV Likely benign 801536 1:120539295-120539295 1:119996672-119996672
50 NOTCH2 NM_024408.4(NOTCH2):c.4897G>A (p.Val1633Ile)SNV Likely benign 283843 rs116321057 1:120465364-120465364 1:119922741-119922741

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 KEGG:

36
# Name Kegg Source Accession
1 Notch signaling pathway hsa04330

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

(show all 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.06 RBPJ NOTCH3 NOTCH2 NOTCH1 NFATC1 LFNG
2
Show member pathways
13.62 RBPJ NOTCH3 NOTCH2 NOTCH1 JAG2 JAG1
3
Show member pathways
13.02 RBPJ NOTCH3 NOTCH2 NOTCH1 LFNG JAG1
4 12.89 NOTCH3 NOTCH2 NOTCH1 JAG2 JAG1 HEYL
5
Show member pathways
12.84 RBPJ NOTCH3 NOTCH2 NOTCH1 LFNG JAG2
6
Show member pathways
12.7 NOTCH3 NOTCH2 NOTCH1 JAG2 JAG1 DLL3
7
Show member pathways
12.69 TNFSF11 NOTCH3 NOTCH2 NOTCH1 JAG2 JAG1
8
Show member pathways
12.62 RBPJ NOTCH3 NOTCH2 NOTCH1 NFATC1 JAG2
9
Show member pathways
12.27 RBPJ NOTCH1 LFNG JAG2 JAG1 HEY2
10
Show member pathways
12.18 RBPJ NOTCH2 NOTCH1 JAG2 JAG1 DLL1
11
Show member pathways
12.07 RBPJ NOTCH3 NOTCH2 NOTCH1 LFNG
12 12.07 RBPJ NOTCH3 NOTCH2 NOTCH1 LFNG JAG2
13 12.04 RBPJ NOTCH3 NOTCH2 NOTCH1
14 12.01 RBPJ NOTCH3 NOTCH2 NOTCH1 HEY2 DLL3
15
Show member pathways
11.98 NOTCH3 NOTCH2 NOTCH1
16 11.9 NOTCH3 NOTCH2 NOTCH1
17 11.87 NOTCH3 NOTCH2 NOTCH1
18
Show member pathways
11.87 RBPJ NOTCH3 NOTCH2 NOTCH1 LFNG JAG2
19 11.83 NOTCH3 NOTCH2 NOTCH1 JAG1
20 11.58 RBPJ NOTCH2 NOTCH1 LFNG JAG1 HES7
21 11.54 RBPJ NOTCH1 JAG2 JAG1
22 11.47 RBPJ NOTCH1 HEY2
23 11.45 RBPJ NOTCH1 DLL1
24 11.44 NOTCH1 NFATC1 HEY2
25 11.4 RBPJ NOTCH3 NOTCH2 NOTCH1 LFNG
26 11.13 NOTCH1 JAG2 JAG1 DLL3 DLL1
27 10.99 RBPJ NOTCH3 NOTCH2 NOTCH1 JAG2 JAG1
28 10.86 NOTCH1 JAG1
29 10.81 NOTCH1 MESP2 LFNG HES7 DLL1

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 nuclear chromatin GO:0000790 9.43 RBPJ NFATC1 MESP2 HEYL HEY2 HES7
2 adherens junction GO:0005912 9.33 NOTCH1 JAG1 DLL1
3 MAML1-RBP-Jkappa- ICN1 complex GO:0002193 8.62 RBPJ NOTCH1

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

(show top 50) (show all 89)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.3 RBPJ NOTCH3 NOTCH2 NOTCH1 NFATC1 MESP2
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.22 TNFSF11 RBPJ NOTCH3 NOTCH1 NFATC1 MESP2
3 negative regulation of transcription by RNA polymerase II GO:0000122 10.21 RBPJ NOTCH3 NOTCH2 NOTCH1 HEYL HEY2
4 cell differentiation GO:0030154 10.19 TNFSF11 NOTCH3 NOTCH2 NOTCH1 JAG2 HEYL
5 negative regulation of transcription, DNA-templated GO:0045892 10.14 RBPJ NOTCH1 HEYL HEY2 HES7
6 positive regulation of gene expression GO:0010628 10.13 TNFSF11 RBPJ NOTCH1 HEY2 DLL1
7 multicellular organism development GO:0007275 10.07 TNFSF11 NOTCH3 NOTCH2 NOTCH1 MESP2 LFNG
8 negative regulation of gene expression GO:0010629 10.05 NOTCH2 NOTCH1 HEYL HEY2
9 regulation of cell proliferation GO:0042127 10.03 RBPJ NOTCH1 JAG2 JAG1
10 transcription initiation from RNA polymerase II promoter GO:0006367 10.02 RBPJ NOTCH3 NOTCH2 NOTCH1
11 animal organ morphogenesis GO:0009887 10.01 TNFSF11 NOTCH2 LFNG JAG1
12 hemopoiesis GO:0030097 9.96 RBPJ NOTCH2 JAG1 DLL1
13 skeletal system development GO:0001501 9.94 JAG2 HES7 DLL3
14 anterior/posterior pattern specification GO:0009952 9.93 HEYL HEY2 HES7
15 negative regulation of neuron differentiation GO:0045665 9.93 NOTCH3 NOTCH1 JAG1 DLL1
16 outflow tract morphogenesis GO:0003151 9.93 RBPJ NOTCH1 HEYL HEY2
17 negative regulation of cell differentiation GO:0045596 9.93 RBPJ NOTCH3 NOTCH1 JAG1 DLL1
18 determination of left/right symmetry GO:0007368 9.91 NOTCH2 NOTCH1 DLL1
19 cell fate commitment GO:0045165 9.91 RBPJ NOTCH1 HEY2
20 heart looping GO:0001947 9.91 NOTCH2 NOTCH1 DLL1
21 humoral immune response GO:0006959 9.9 RBPJ NOTCH2 NOTCH1
22 keratinocyte differentiation GO:0030216 9.9 RBPJ NOTCH1 JAG1
23 ventricular septum morphogenesis GO:0060412 9.9 RBPJ NOTCH1 HEYL HEY2
24 cell communication GO:0007154 9.89 JAG2 JAG1 DLL1
25 positive regulation of cardiac muscle cell proliferation GO:0060045 9.88 RBPJ NOTCH1 HEY2
26 regulation of neurogenesis GO:0050767 9.88 NOTCH1 HEYL HEY2 HES7 DLL1
27 somitogenesis GO:0001756 9.88 RBPJ MESP2 LFNG HES7 DLL3 DLL1
28 positive regulation of BMP signaling pathway GO:0030513 9.86 RBPJ NOTCH2 NOTCH1
29 inflammatory response to antigenic stimulus GO:0002437 9.85 RBPJ NOTCH2 NOTCH1
30 neuronal stem cell population maintenance GO:0097150 9.85 NOTCH1 JAG1 DLL1
31 positive regulation of transcription of Notch receptor target GO:0007221 9.85 RBPJ NOTCH3 NOTCH1 HEYL
32 aortic valve morphogenesis GO:0003180 9.85 NOTCH1 NFATC1 JAG1 HEYL HEY2
33 positive regulation of Notch signaling pathway GO:0045747 9.85 RBPJ NOTCH1 LFNG JAG2 JAG1 DLL1
34 cell fate determination GO:0001709 9.84 NOTCH2 JAG1 DLL1
35 ventricular trabecula myocardium morphogenesis GO:0003222 9.83 RBPJ NOTCH1 HEY2
36 left/right axis specification GO:0070986 9.82 NOTCH2 NOTCH1 DLL1
37 cardiac septum morphogenesis GO:0060411 9.82 NOTCH1 JAG1 HEY2
38 cardiac epithelial to mesenchymal transition GO:0060317 9.81 NOTCH1 HEYL HEY2
39 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.81 RBPJ NOTCH1 HEYL HEY2
40 cardiac left ventricle morphogenesis GO:0003214 9.8 RBPJ NOTCH1 HEY2
41 negative regulation of Notch signaling pathway GO:0045746 9.8 NOTCH3 JAG2 JAG1 HEY2 DLL3 DLL1
42 cardiac ventricle morphogenesis GO:0003208 9.79 NOTCH1 HEYL HEY2
43 marginal zone B cell differentiation GO:0002315 9.79 NOTCH2 LFNG DLL1
44 interleukin-4 secretion GO:0072602 9.78 RBPJ NOTCH2 NOTCH1
45 neuron fate commitment GO:0048663 9.77 NOTCH3 NOTCH1
46 negative regulation of neurogenesis GO:0050768 9.77 NOTCH1 DLL3
47 regulation of somitogenesis GO:0014807 9.77 NOTCH1 LFNG DLL1
48 artery morphogenesis GO:0048844 9.76 RBPJ NOTCH3
49 negative regulation of myoblast differentiation GO:0045662 9.76 NOTCH1 DLL1
50 positive regulation of osteoclast differentiation GO:0045672 9.76 TNFSF11 NOTCH2

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.88 RBPJ NOTCH1 NFATC1 MESP2 HEYL HEY2
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.85 RBPJ NFATC1 MESP2 HEYL HEY2 HES7
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.83 RBPJ NOTCH1 NFATC1 MESP2 HEYL
4 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.76 NFATC1 HEYL HEY2 HES7
5 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.72 RBPJ NOTCH1 NFATC1 MESP2 HEYL
6 protein dimerization activity GO:0046983 9.56 MESP2 HEYL HEY2 HES7
7 transcription factor binding GO:0008134 9.55 RBPJ NFATC1 HEYL HEY2 HES7
8 calcium ion binding GO:0005509 9.5 NOTCH3 NOTCH2 NOTCH1 JAG2 JAG1 DLL3
9 Notch binding GO:0005112 9.02 NOTCH1 JAG2 JAG1 DLL3 DLL1

Sources for Hajdu-Cheney Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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