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Gene: P3h1 MGI:1888921

Gene Summary

Name:

prolyl 3-hydroxylase 1

Synonyms:

Lepre1, 2410024C15Rik, Gros1, Leprecan

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased grip strength	P3h1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.34×10^-20
decreased bone mineral density	P3h1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	3.54×10^-22
abnormal skeletal muscle morphology	P3h1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased total body fat amount	P3h1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	7.82×10^-06
decreased bone mineral content	P3h1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	7.47×10^-08
decreased locomotor activity	P3h1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	6.65×10^-06
decreased body length	P3h1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.44×10^-07
abnormal heart morphology	P3h1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
abnormal skin morphology	P3h1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
prolonged RR interval	P3h1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.25×10^-05
thin skin	P3h1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
abnormal limb position	P3h1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	4.23×10^-07
enlarged heart	P3h1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	100% (2 of 2)
Blood	N/A	heterozygote	0.0% (0 of 2)
Bone marrow	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	50% (1 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	50% (1 of 2)
Cartilage tissue	N/A	heterozygote	Not available
Cecum	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	Not available
Chest bone	N/A	heterozygote	Not available
Colon	N/A	heterozygote	100% (2 of 2)
Diaphragm	N/A	heterozygote	0.0% (0 of 2)
Duodenum	N/A	heterozygote	0.0% (0 of 2)
Epididymis	N/A	heterozygote	50% (1 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	50% (1 of 2)
Gall bladder	N/A	heterozygote	Not available
Gonadal fat pad	N/A	heterozygote	0.0% (0 of 2)
Harderian gland	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	Not available
Hindlimb	N/A	heterozygote	Not available
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Ileum	N/A	heterozygote	100% (2 of 2)
Jejunum	N/A	heterozygote	0.0% (0 of 2)
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	Not available
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	Not available
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Mesenteric adipose tissue	N/A	heterozygote	50% (1 of 2)
Mesenteric lymph node	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	heterozygote	50% (1 of 2)
Olfactory lobe	N/A	heterozygote	50% (1 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Parotid gland	N/A	heterozygote	0.0% (0 of 2)
Penis	N/A	heterozygote	50% (1 of 2)
Peripheral nervous system	N/A	heterozygote	Not available
Peyer's patch	N/A	heterozygote	Not available
Pituitary gland	N/A	heterozygote	50% (1 of 2)
Prostate gland	N/A	heterozygote	Not available
Quadriceps	N/A	heterozygote	0.0% (0 of 2)
Sciatic nerve	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	Not available
Skin	N/A	heterozygote	50% (1 of 2)
Small intestine	N/A	heterozygote	100% (2 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	50% (1 of 2)
Stomach pyloric region	N/A	heterozygote	Not available
Stomach	N/A	heterozygote	100% (2 of 2)
Striatum	N/A	heterozygote	Not available
Sublingual gland	N/A	heterozygote	0.0% (0 of 2)
Submandibular gland	N/A	heterozygote	0.0% (0 of 2)
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Tongue	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	50% (1 of 2)
Trigeminal V nerve	N/A	heterozygote	0.0% (0 of 2)
Urinary bladder	N/A	heterozygote	100% (2 of 2)
Uterus	N/A	heterozygote	50% (1 of 2)
Vagina	N/A	heterozygote	0.0% (0 of 2)
Vas deferens	N/A	heterozygote	50% (1 of 2)
Vascular system	N/A	heterozygote	Not available
Vesicular gland	N/A	heterozygote	Not available
White adipose tissue	N/A	heterozygote	Not available

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood
bone marrow
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cecum	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
chest bone
colon
diaphragm	0.0%
duodenum	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
gonadal fat pad	0.0%
harderian gland
heart	0.0%
hindlimb	0.0%
hippocampus	0.0%
hypothalamus	0.0%
ileum	0.0%
jejunum
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
mesenteric adipose tissue	0.0%
mesenteric lymph node
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
parotid gland	0.0%
penis	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
quadriceps	0.0%
sciatic nerve	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
stomach pyloric region	0.0%
striatum	0.0%
sublingual gland	0.0%
submandibular gland	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
tongue	0.0%
trachea	0.0%
trigeminal v nerve	0.0%
urinary bladder
uterus	0.0%
vagina	0.0%
vas deferens	Unavailable
vascular system	0.0%
vesicular gland	Unavailable
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

45 Images

View images

Human diseases caused by P3h1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with P3h1 (1 diseases)
Human diseases predicted to be associated with P3h1 (923 diseases)

The table below shows human diseases associated to P3h1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Osteogenesis Imperfecta, Type Viii		Osteopenia, Decreased calvarial ossification, Decreased skull ossification, Joint hypermobility, ...	OMIM:610915

The table below shows human diseases predicted to be associated to P3h1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cystic Angiomatosis Of Bone, Diffuse	Cystic angiomatosis of bone	OMIM:123880
Superior Transverse Scapular Ligament, Calcification Of, Familial	Ectopic ossification in ligament tissue	OMIM:601708
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Platyspondyly, Osteopenia, Broad femoral neck, Thenar muscle atrophy, Moderately short stature, A...	ORPHA:157965
Diastrophic Dysplasia	Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Patellar dislocatio...	OMIM:222600
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Joint contracture of the hand, Pes planus, Flattened epiphysis, Dislocated radial head, Short met...	OMIM:612350
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Dispropo...	OMIM:156530
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Talipes equino...	OMIM:613330
Eiken Syndrome	Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, Absence of ...	ORPHA:79106
Arthrochalasia Ehlers-Danlos Syndrome	Severe short stature, Abnormality of subcutaneous fat tissue, Avascular necrosis of the capital f...	ORPHA:1899
Brachyolmia Type 1, Toledo Type	Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious...	OMIM:271630
Rhizomelic Dysplasia, Ain-Naz Type	Platyspondyly, Severe short stature, Rhizomelia, Limitation of joint mobility, Wide distal femora...	OMIM:619598
Osteopenia And Sparse Hair	Osteopenia, Joint hypermobility	OMIM:259690
Mazabraud Syndrome	Recurrent fractures, Fibrous dysplasia of the bones	ORPHA:57782
Dysspondyloenchondromatosis	Platyspondyly, Anisospondyly, Skin erosion, Lower limb asymmetry, Abnormal ulnar metaphysis morph...	ORPHA:85198
Spondyloepiphyseal Dysplasia, Stanescu Type	Platyspondyly, Hypoplastic ilia, Vertebral wedging, Stiff neck, Joint stiffness, Internal tibial ...	OMIM:616583
Acrogeria	Small hand, Skin ulcer, Micrognathia, Joint hypermobility, Aplasia/Hypoplasia of the skin, Short ...	ORPHA:2500
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac...	OMIM:620386
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Disproportionate short-limb short stature, Epiphyseal stippling, Short humerus, Short...	OMIM:600121
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Genu valgum, Micrognathia, Hip contracture, Pes planus, Flattened epiphysis, Advanced ossificatio...	OMIM:618363
Acromesomelic Dysplasia 2A	Acromesomelia, Disproportionate short-limb short stature, Short tibia, Aplasia/Hypoplasia involvi...	OMIM:200700
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Hypoplasia of the odontoid process, Finger swelling, Limitation of joint mob...	ORPHA:93284
Parastremmatic Dwarfism	Severe short stature, Genu valgum, Bowing of the long bones, Short neck, Flexion contracture, Sco...	OMIM:168400
Progressive Pseudorheumatoid Dysplasia	Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Abnormal foot morphology, ...	OMIM:208230
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615269
Geroderma Osteodysplastica	Platyspondyly, Severe short stature, Abnormal epiphysis morphology, Abnormal form of the vertebra...	ORPHA:2078
Spondylometaphyseal Dysplasia, Kozlowski Type	Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Disproportionate short-tr...	OMIM:184252
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Atypical scarring of skin, Skeletal muscle atrophy, Growth delay, Atrophic scars, Kyp...	ORPHA:75496
Osteoporosis	Osteoporosis	OMIM:166710
Spondyloepiphyseal Dysplasia Congenita	Dysplasia of the femoral head, Genu valgum, Micrognathia, Limited elbow movement, Short neck, Dis...	ORPHA:94068
Autosomal Dominant Brachyolmia	Platyspondyly, Increased vertebral height, Kyphoscoliosis, Short stature, Abnormal metaphysis mor...	ORPHA:93304
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Premature osteoarthritis, Genu valgum, Abn...	ORPHA:93360
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Osteopenia, Sclerotic foci of metaphyses of the elbow, Kyphosis, Short iliac bones...	OMIM:271530
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Platyspondyly, Enlarged metaphyses, Severe short stature, Lower-limb metaphyseal irregularity, Po...	OMIM:618728
Dermatosparaxis Ehlers-Danlos Syndrome	Abnormality of subcutaneous fat tissue, Osteomalacia, Micrognathia, Hernia, Hip dislocation, Oste...	ORPHA:1901
Metaphyseal Dysplasia Without Hypotrichosis	Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Abnormality of the ve...	OMIM:250460
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Radial metaphyseal irregularity, Genu varum, Irregular vertebral e...	ORPHA:174
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Metaphyseal Chondrodysplasia, Spahr Type	Disproportionate short stature, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Re...	ORPHA:2501
Hip Dysplasia, Beukes Type	Broad femoral neck, Abnormal epiphysis morphology, Abnormality of the epiphysis of the femoral he...	ORPHA:2114
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Cutaneous finger syndactyly, Duplication of metatarsal bones, Kyphoscoliosis, Aplasia/Hypoplasia ...	OMIM:600384
Congenital Disorder Of Glycosylation, Type Iik	Epiphyseal dysplasia, Kyphoscoliosis, Joint hypermobility, Amelogenesis imperfecta, Diaphyseal dy...	OMIM:614727
Spondylometaphyseal Dysplasia, Corner Fracture Type	Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of metaphysis, Hyperconve...	OMIM:184255
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Delayed epiphyseal ossification, Severe short stature, Hip osteoarthritis, ...	OMIM:132400
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio...	ORPHA:93323
Myopathic Ehlers-Danlos Syndrome	Increased variability in muscle fiber diameter, Joint contracture of the hand, Decreased muscle m...	ORPHA:536516
Proteus Syndrome	Mandibular hyperostosis, Cerebriform connective tissue nevus, Nevus, Hypertrophy of skin of soles...	OMIM:176920
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Hypermobility of interphalangeal joints, Broad thumb, Broad hallux, Decreased muscle mass, Kyphos...	ORPHA:3433
Juvenile Hyaline Fibromatosis	Skeletal muscle atrophy, Skin ulcer, Abnormal diaphysis morphology, Joint stiffness, Aplasia/Hypo...	ORPHA:2028
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Osteopenia, Skeletal muscle atrophy, Atrophic scars, Myopathy, Kyphoscoliosis, Hernia, Joint hype...	ORPHA:300179
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Platyspondyly, Bowing of the legs, Lower limb undergrowth, Kyphoscoliosis, Lumbar scoliosis, Brac...	OMIM:612847
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Nemaline Myopathy 7	Minicore myopathy, Nemaline bodies, Genu recurvatum, Shoulder girdle muscle weakness, Lumbar hype...	OMIM:610687
Schwartz-Jampel Syndrome, Type 1	Joint contracture of the hand, Micrognathia, Hip contracture, Bowing of the long bones, Talipes e...	OMIM:255800
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Aplasia/Hypoplasia of the skin, Dermal atrophy, Type E brachydactyly, Macule	ORPHA:1962
Epiphyseal Dysplasia, Multiple, 7	Platyspondyly, Epiphyseal dysplasia, Vertebral wedging, Hypoplasia of the capital femoral epiphys...	OMIM:617719
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val...	OMIM:600785
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Patchy osteosclerosis, Osteopenia, Thin skin, Skeletal muscle atrophy, Diaphyseal cortical sclero...	OMIM:112250
Charcot-Marie-Tooth Disease, Axonal, Type 2X	Ankle flexion contracture, Proximal muscle weakness in upper limbs, Proximal muscle weakness in l...	OMIM:616668
Rhizomelic Chondrodysplasia Punctata, Type 1	Severe short stature, Rhizomelia, Flared metaphysis, Epiphyseal stippling, Micrognathia, Calcific...	OMIM:215100
Gnathodiaphyseal Dysplasia	Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones	ORPHA:53697
Hyperekplexia 4	Umbilical hernia, Inguinal hernia, Kyphoscoliosis, Talipes equinovarus, Distal arthrogryposis, Ad...	OMIM:618011
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Limited hip movement, Dysplasia of the femoral head, Hip contracture, Disproportionate short-trun...	ORPHA:99642
Richieri Costa-Da Silva Syndrome	Vertebral wedging, Decreased anterioposterior diameter of lumbar vertebral bodies, Decreased musc...	ORPHA:3101
Multiple Epiphyseal Dysplasia Type 1	Delayed epiphyseal ossification, Disproportionate short stature, Arthralgia of the hip, Limitatio...	ORPHA:93308
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormal ilium morphology, Genu valgum, Micrognathia, Disproportionate short-trunk short stature,...	ORPHA:93316
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Arthr...	OMIM:618484
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla...	OMIM:147891
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl...	OMIM:607078
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra...	OMIM:156500
Osteogenesis Imperfecta, Type Ii	Platyspondyly, Abnormal pelvic girdle bone morphology, Disproportionate short-limb short stature,...	OMIM:166210
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Maternal Uniparental Disomy Of Chromosome 9	Abnormal vertebral morphology, Intrauterine growth retardation, Hamstring contractures, Micrognat...	ORPHA:96183
Fetal Encasement Syndrome	Upper limb undergrowth, Tetralogy of Fallot, Congenital diaphragmatic hernia, Lower limb undergro...	OMIM:613630
Osteogenesis Imperfecta, Type Viii	Osteopenia, Decreased calvarial ossification, Decreased skull ossification, Joint hypermobility, ...	OMIM:610915
Flynn-Aird Syndrome	Dermal atrophy, Joint stiffness, Increased bone density with cystic changes, Kyphoscoliosis, Oste...	OMIM:136300
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short neck, Pes planus, Sho...	OMIM:184095
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Platyspondyly, Epiphyseal dysplasia, Broad femoral neck, Arthralgia of the hip, Flared femoral me...	OMIM:609324
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th...	ORPHA:457395
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormal ilium morphology, Joint contracture of the hand, Infancy onset short-trunk short stature...	ORPHA:1159
Congenital Myopathy 23	Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Type 1 muscle fi...	OMIM:609285
Arthrogryposis, Distal, Type 3	Decreased muscle mass, Overlapping toe, Cutaneous finger syndactyly, Micrognathia, Talipes equino...	OMIM:114300
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P...	ORPHA:3329
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl...	ORPHA:1988
Absence Of Fingerprints-Congenital Milia Syndrome	Milia, Camptodactyly of finger, Thin skin	ORPHA:1658
Anauxetic Dysplasia 2	Posterior wedging of vertebral bodies, Intrauterine growth retardation, Hypoplasia of the femoral...	OMIM:617396
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Limited elbow flexion, Double-layered patella, Hypoplasia of the femoral he...	OMIM:226900
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra...	OMIM:177170
Bethlem Myopathy 2	Increased variability in muscle fiber diameter, Kyphosis, Atrophic scars, Myopathy, Distal joint ...	OMIM:616471
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615271
X-Linked Ehlers-Danlos Syndrome	Umbilical hernia, Inguinal hernia, Joint hypermobility, Hernia, Short stature, Thin skin	ORPHA:75497
Familial Cervical Artery Dissection	Abnormality of connective tissue, Striae distensae, Transient ischemic attack, Cerebral ischemia,...	ORPHA:36382
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Knee flexion contracture, Kyphoscoliosis, Talipes equino...	ORPHA:496689
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Osteogenesis Imperfecta, Type Xiii	Platyspondyly, Dentinogenesis imperfecta, Skeletal muscle atrophy, Umbilical hernia, Wide distal ...	OMIM:614856
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Platyspondyly, Webbed neck, Osteopenia, Flared metaphysis, Decreased fibular diameter, Intrauteri...	OMIM:616897
Periventricular Nodular Heterotopia	Shoulder dislocation, Joint hypermobility, Hernia, Patellar dislocation, Scoliosis, Thin skin	ORPHA:98892
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi...	OMIM:259600
Weismann-Netter Syndrome	Severe short stature, Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Ab...	ORPHA:3344
Acromesomelic Dysplasia, Maroteaux Type	Acromesomelia, Disproportionate short stature, Vertebral wedging, Abnormal form of the vertebral ...	ORPHA:40
Stuve-Wiedemann Syndrome 1	Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long bones, Talipes, Short neck...	OMIM:601559
Cerebrooculofacioskeletal Syndrome 4	Abnormality of the vertebral column, Slender long bone, Camptodactyly of finger, Elbow flexion co...	OMIM:610758
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foot morphology, Capillary ...	ORPHA:75508
Cardiac-Valvular Ehlers-Danlos Syndrome	Genu recurvatum, Sandal gap, Atrophic scars, Recurrent shoulder dislocation, Genu valgum, Inguina...	ORPHA:230851
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Aortic regurgitation, Atrophic scars, Mitral regurgitation, Mitral valve prolapse, Joint hypermob...	OMIM:225320
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Platyspondyly, Epiphyseal dysplasia, Hypoplastic ilia, Osteopenia, Flared metaphysis, Carpal syno...	OMIM:615349
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Equinovarus deformity, Genu valgum, Micrognathia, Short neck, Bro...	ORPHA:56304
Whistling Face Syndrome, Recessive Form	Ulnar deviation of finger, Shoulder flexion contracture, Elbow flexion contracture, Micrognathia,...	OMIM:277720
Central Core Disease	Congenital hip dislocation, Nemaline bodies, Type 1 muscle fiber predominance, Multiple joint con...	ORPHA:597
Winchester Syndrome	Carpal osteolysis, Osteolysis involving tarsal bones, Generalized osteoporosis, Subcutaneous nodu...	OMIM:277950
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development	Firm muscles, Vertebral wedging, Irregular femoral epiphysis, Genu valgum, Kyphoscoliosis, Short ...	OMIM:255710
Familial Partial Lipodystrophy, Dunnigan Type	Cellulitis, Skeletal muscle hypertrophy, Hypertrophic cardiomyopathy, Congestive heart failure, S...	ORPHA:2348
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Short thumb, Overlapping toe, Camptodactyly, Clinodactyly of the 5th finger, Short stature, Kyphosis	OMIM:618453
Roussy-Lévy Syndrome	Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Genu valgum, Pes cavus, K...	ORPHA:3115
Mandibuloacral Dysplasia	Increased subcutaneous truncal adipose tissue, Contractures of the large joints, Increased adipos...	ORPHA:2457
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Atypical scarring of skin, Striae distensae, Mitral valve prolapse, Joint hypermobility, Thin skin	OMIM:225310
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Increased adipose tissue around the neck, Reduced subcutaneous adipose tissue, Myopathy, Loss of ...	ORPHA:280365
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal amyotrophy, Arthrogryposis multiplex congenita, Elbow flexion contracture, Nonprogressive ...	OMIM:600175
Chst3-Related Skeletal Dysplasia	Rhizomelia, Abnormal form of the vertebral bodies, Irregular epiphyses, Small epiphyses, Genu val...	ORPHA:263463
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Platyspondyly, Metaphyseal cupping of metacarpals, Hypoplasia of the odontoid process, Cone-shape...	OMIM:300232
Contractural Arachnodactyly, Congenital	Micrognathia, Hip contracture, Arachnodactyly, Bowing of the long bones, Short neck, Talipes equi...	OMIM:121050
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Beaking of vertebral bodies, Pes planus, Broad toe, Flat acetabular roof,...	OMIM:609616
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atlantoaxial dislocation, Postnatal growth retardation, Dysplasia of the femoral head, Micrognath...	ORPHA:536467
Pelviscapular Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Elbow flexion contracture, Me...	ORPHA:93333
Hypoplastic Femurs And Pelvis	Hypoplastic pelvis, Short femur	OMIM:619545
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno...	ORPHA:83451
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Severe short stature, Hypoplasia of proximal radius, Short tubular bones of the ha...	OMIM:184253
Osteogenesis Imperfecta, Type X	Platyspondyly, Dentinogenesis imperfecta, Rhizomelia, Osteopenia, Micromelia, Genu valgum, Fibula...	OMIM:613848
Osteogenesis Imperfecta, Type Xi	Dentinogenesis imperfecta, Osteopenia, Vertebral wedging, Increased susceptibility to fractures, ...	OMIM:610968
Acrofacial Dysostosis Syndrome Of Rodriguez	Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular...	OMIM:201170
Monosomy 5P	Preauricular skin tag, Small hand, Microretrognathia, Finger syndactyly, Intrauterine growth reta...	ORPHA:281
Achondroplasia	Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Femoral bowing, Limited elbo...	OMIM:100800
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Disproportionate short-limb short stature, Bowing of limbs due to multiple fractures, Decreased c...	OMIM:259410
Scholte Syndrome	Small hand, Patellar hypoplasia, Reduced subcutaneous adipose tissue, Kyphoscoliosis, Short foot,...	OMIM:300977
Marshall-Smith Syndrome	Slender long bone, Reduced bone mineral density, Increased susceptibility to fractures, Joint hyp...	ORPHA:561
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal vertebral morphology, Subluxation of the small joints of the hand, Dysplasia of the femo...	ORPHA:536471
Silver-Russell Syndrome 2	Intrauterine growth retardation, Micrognathia, 2-3 toe syndactyly, Short stature, Clinodactyly of...	OMIM:618905
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Short toe, Patellar hypoplasia, Decreased muscle mass, Hyperextensibility of the finger joints, L...	ORPHA:3041
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Pparg-Related Familial Partial Lipodystrophy	Skeletal muscle hypertrophy, Hypertrophic cardiomyopathy, Congestive heart failure, Loss of facia...	ORPHA:79083
Hypochondroplasia	Disproportionate short-limb short stature, Flared metaphysis, Lumbar hyperlordosis, Trident hand,...	OMIM:146000
Atelosteogenesis Type I	Platyspondyly, Rhizomelia, Absent or minimally ossified vertebral bodies, Micrognathia, Talipes e...	ORPHA:1190
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Disproportionate short stature, Flared metaphysis, Small epiphyses, Femora...	ORPHA:93356
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Sandwich appearance of vertebral bodies, Sclerosis of skull base, Fe...	OMIM:602080
Spastic Paraplegia 20, Autosomal Recessive	Distal amyotrophy, Clinodactyly, Lower limb muscle weakness, Pes cavus, Kyphoscoliosis, Ankle clo...	OMIM:275900
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta, Osteopenia, Femoral bowing, Biconcave flattened vertebrae, Increased s...	OMIM:166200
Atrial Standstill	Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart...	ORPHA:1344
Multiple Epiphyseal Dysplasia, Beighton Type	Limitation of joint mobility, Genu valgum, Intervertebral space narrowing, Reduced proximal inter...	ORPHA:166011
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Skeletal muscle atrophy, Melanocytic nevus, Reduced subcutaneous adipose tissue, Kyphoscoliosis, ...	OMIM:612079
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ...	OMIM:603546
Carpenter Syndrome	Toe syndactyly, Broad thumb, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu...	ORPHA:65759
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Skeletal muscle atrophy, Mitral valve prolapse, Joint hypermobility,...	ORPHA:230839
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Reduced bone mineral density, Inguinal hernia, Brachydactyly, Short stature, Short femoral neck, ...	OMIM:618392
Gnathodiaphyseal Dysplasia	Osteopenia, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteomyelitis	OMIM:166260
Congenital Heart Defects And Ectodermal Dysplasia	2-3 toe cutaneous syndactyly, Broad thumb, Deep plantar creases, Scoliosis, Thin skin	OMIM:617364
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u...	OMIM:118651
Thanatophoric Dysplasia Type 1	Platyspondyly, Hypoplastic ilia, Micromelia, Lethal short-limbed short stature, Joint stiffness, ...	ORPHA:1860
Joubert Syndrome 18	Intrauterine growth retardation, Trident pelvis, Kyphoscoliosis, Postaxial polydactyly, Bowing of...	OMIM:614815
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Osteogenesis Imperfecta, Type Xvii	Platyspondyly, Dentinogenesis imperfecta, Thin metacarpal cortices, Decreased muscle mass, Recurr...	OMIM:616507
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormal fingertip morphology, Short distal phalanx of finger, Dermal atrophy, Generalized lipody...	ORPHA:90154
Premature Aging Syndrome, Penttinen Type	Short distal phalanx of finger, Keloids, Slender long bone, Dermal atrophy, Hyperextensibility of...	OMIM:601812
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l...	OMIM:147750
Weismann-Netter Syndrome	Severe short stature, Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Calvarial hypero...	OMIM:112350
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Avascular necrosis of th...	OMIM:184100
Cutis Laxa, Autosomal Recessive, Type Iiia	Congenital hip dislocation, Distal amyotrophy, Umbilical hernia, Intrauterine growth retardation,...	OMIM:219150
Odontochondrodysplasia 1	Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ...	OMIM:184260
Spinal Muscular Atrophy, Ryukyuan Type	Pes cavus, Proximal amyotrophy, Spinal muscular atrophy, Kyphoscoliosis	OMIM:271200
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Congenital knee ...	OMIM:130060
Focal Dermal Hypoplasia	Toe syndactyly, Finger syndactyly, Dermal atrophy, Congenital diaphragmatic hernia, Hernia, Subcu...	ORPHA:2092
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ...	ORPHA:1145
Autosomal Dominant Deafness-Onychodystrophy Syndrome	Triphalangeal thumb, Aplasia cutis congenita, Short thumb, Pes planus	ORPHA:79499
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Ulnar claw, Distal amyotrophy, Pes cavus, Limb muscle weakness, Foot dorsiflexor weakness, Kyphos...	OMIM:118220
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Disproportionate short-limb short stature, Metaphyseal spurs, Micromelia, Irregula...	OMIM:608728
Aplasia Cutis Congenita	Toe syndactyly, Skin ulcer, Finger syndactyly, Aplasia cutis congenita, Aplasia cutis congenita o...	ORPHA:1114
Atelosteogenesis, Type I	Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Short neck, Aplasia/H...	OMIM:108720
Kniest Dysplasia	Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Short neck, Lumba...	OMIM:156550
Van Buchem Disease	Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis	OMIM:239100
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th...	OMIM:612447
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Micromelia, Femoral bowing, Micrognathia, Dumbbell-shaped long ...	ORPHA:440354
Exostoses With Anetodermia And Brachydactyly, Type E	Dermal atrophy, Type E brachydactyly	OMIM:133690
Warburg Micro Syndrome 1	Overlapping toe, Micrognathia, Kyphoscoliosis, Joint hypermobility, Short stature, Osteoporosis	OMIM:600118
Multiple Epiphyseal Dysplasia Type 4	Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Abnormal hand morpho...	ORPHA:93307
Cerebrooculofacioskeletal Syndrome 1	Joint contracture of the hand, Deep longitudinal plantar crease, Elbow flexion contracture, Micro...	OMIM:214150
Metatropic Dysplasia	Severe short stature, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Coar...	ORPHA:2635
King-Denborough Syndrome	Centrally nucleated skeletal muscle fibers, Webbed neck, Minicore myopathy, Lumbar hyperlordosis,...	OMIM:619542
Ck Syndrome	Microretrognathia, Lumbar hyperlordosis, Kyphoscoliosis, Joint hypermobility, Long toe, Long fingers	ORPHA:251383
Ethanolaminosis	Cardiomegaly	OMIM:227150
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Hypoplasia of the odontoid process, Kyphoscoliosis	OMIM:612913
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Genu varu...	OMIM:271510
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Geroderma Osteodysplasticum	Platyspondyly, Severe short stature, Osteopenia, Hyperextensibility of the finger joints, Femoral...	OMIM:231070
Hypophosphatemic Rickets, Autosomal Recessive, 1	Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density	OMIM:241520
X-Linked Dominant Chondrodysplasia Punctata	Hypoplastic cervical vertebrae, Lower limb asymmetry, Epiphyseal stippling, Erythematous plaque, ...	ORPHA:35173
Leukodystrophy, Hypomyelinating, 17	Flexion contracture, Growth delay, Kyphoscoliosis	OMIM:618006
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive	Congenital absence of skin of limbs, Aplasia cutis congenita	OMIM:600360
Charcot-Marie-Tooth Disease, Type 4B2	Ulnar claw, Distal amyotrophy, Pes cavus, Foot dorsiflexor weakness, Kyphoscoliosis, Talipes equi...	OMIM:604563
Charcot-Marie-Tooth Disease Type 4D	Skewfoot, Abnormal foot morphology, Pes cavus, Kyphoscoliosis, Distal lower limb muscle weakness,...	ORPHA:99950
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Short femoral neck, Pathologic fracture, Postnatal growth retardation, Metaphyseal sc...	OMIM:612199
Bruck Syndrome 1	Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Increased...	OMIM:259450
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Growth delay, Bulging epiphyses, Rickets, Fibular bowing, Femora...	OMIM:600081
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Thoracolumbar kyphosis, Joint hypermobility, Kyphoscoliosis	OMIM:236660
Short Syndrome	Clinodactyly, Slender long bone, Radial deviation of finger, Intrauterine growth retardation, Mic...	OMIM:269880
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T...	OMIM:618654
Chondrodysplasia With Joint Dislocations, Gpapp Type	Coronal craniosynostosis, Patellar dislocation, Short toe, Knee dislocation, Genu valgum, Microgn...	OMIM:614078
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Ulnar claw, Distal amyotrophy, Pes cavus, Limb muscle weakness, Foot dorsiflexor weakness, Kyphos...	OMIM:118200
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abnormal vertebral morphology, Delayed epiphyseal ossification, Premature osteoarthritis, Squared...	ORPHA:93352
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615270
Spondylocostal Dysostosis 1, Autosomal Recessive	Severe short stature, Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentati...	OMIM:277300
Congenital Muscular Dystrophy Without Intellectual Disability	Muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Facial diplegia, Kyphoscoliosis, Pro...	ORPHA:370980
Ovarian Dysgenesis 1	Osteoporosis	OMIM:233300
Spondylocostal Dysostosis 3, Autosomal Recessive	Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j...	OMIM:609813
Prolidase Deficiency	Palmoplantar keratoderma, Skin ulcer, Abnormal hip bone morphology, Genu valgum, Micrognathia, Ar...	ORPHA:742
Congenital Disorder Of Glycosylation, Type Iig	Small hand, Shallow acetabular fossae, Postnatal growth retardation, Micrognathia, Talipes equino...	OMIM:611209
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Intrauterine growth retardation, Micrognathia, Skin dimple, Lipoatrophy, Thin skin	ORPHA:261304
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Talipes equinovarus, Distal amyotrophy, Split hand, Kyphoscoliosis	OMIM:607831
Mandibuloacral Dysplasia With Type A Lipodystrophy	Short distal phalanx of finger, Limitation of joint mobility, Dermal atrophy, Aplasia/Hypoplasia ...	ORPHA:90153
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Talipes equino...	OMIM:271640
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Short neck, Pes ...	OMIM:251450
Roussy-Levy Hereditary Areflexic Dystasia	Distal amyotrophy, Hammertoe, Pes cavus, Kyphoscoliosis	OMIM:180800
Meier-Gorlin Syndrome 1	Joint contracture of the hand, Small hand, Cutaneous finger syndactyly, Genu valgum, Micrognathia...	OMIM:224690
Kyphomelic Dysplasia	Platyspondyly, Disproportionate short stature, Limitation of joint mobility, Radial bowing, Flare...	OMIM:211350
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Kyphoscoliosis	OMIM:607855
De Barsy Syndrome	Congenital hip dislocation, Osteopenia, Decreased muscle mass, Umbilical hernia, Talipes calcaneo...	ORPHA:2962
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Joint contracture of the hand, Pes cavus, Kyphoscoliosis, Camptodacty...	OMIM:300280
Ullrich Congenital Muscular Dystrophy	Increased variability in muscle fiber diameter, Micrognathia, Short neck, Torticollis, Hip disloc...	ORPHA:75840
Arthrogryposis, Distal, Type 2A	Joint contracture of the hand, Postnatal growth retardation, Hip contracture, Hernia, Talipes equ...	OMIM:193700
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Skeletal muscle atrophy, Striae distensae, Osteoporosis, Kyphosis, Thin skin	OMIM:219080
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Severe short stature, Short finger, Sclerosis of skull base, Hip contracture, Knee...	OMIM:313420
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Joint contracture, Kyphoscoliosis	OMIM:617977
Pseudoprogeria Syndrome	Short stature, Joint stiffness, Growth delay, Thin skin	ORPHA:2985
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Distal amyotrophy, Upper limb muscle weakness, Pes cavus, Foot dorsiflexor weakness, Kyphoscoliosis	OMIM:605588
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Foot oligodactyly, Amelia, Omphalocele, Scoliosis, Short femur	OMIM:601357
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of...	OMIM:313400
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora...	OMIM:300554
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Elbow flexion contracture, Intrauterine growth retardation, Inguinal hernia, Pes plan...	OMIM:614438
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Broad femoral head, Seve...	OMIM:620639
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie...	OMIM:618019
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Platyspondyly, Epiphyseal dysplasia, Thoracolumbar kyphosis, Disproportionate short stature, Hypo...	OMIM:617425
Dysosteosclerosis	Platyspondyly, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Abnormal dental e...	ORPHA:1782
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car...	OMIM:604765
Intellectual Developmental Disorder, X-Linked 19	Long foot, Scoliosis, Kyphoscoliosis	OMIM:300844
Joint Laxity, Short Stature, And Myopia	Cervical kyphosis, Umbilical hernia, Inguinal hernia, Kyphoscoliosis, Joint hypermobility, Talipe...	OMIM:617662
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal ...	OMIM:113000
Ataxia-Oculomotor Apraxia Type 4	Progressive distal muscular atrophy, Muscular dystrophy, Pes cavus, Kyphoscoliosis, Distal lower ...	ORPHA:459033
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Metaphyseal cupping, Rhizomelia, Radial bowing, Flared meta...	OMIM:602111
Congenital Heart Defects And Skeletal Malformations Syndrome	Sandal gap, Intrauterine growth retardation, Congenital diaphragmatic hernia, Joint hypermobility...	OMIM:617602
Acromicric Dysplasia	Severe short stature, Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Short phalanx of ...	OMIM:102370
Achondrogenesis Type 2	Hypoplastic ilia, Unossified sacrum, Micromelia, Absent vertebral body mineralization, Delayed pu...	ORPHA:93296
Rahman Syndrome	Camptodactyly, Talipes equinovarus, Nevus, Kyphoscoliosis	OMIM:617537
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Slender finger, Clinodactyly, Intrauterine growth retardation, Dorsocervical fat pad, Micrognathi...	ORPHA:391408
Short Stature, Dauber-Argente Type	Osteopenia, Decreased fibular diameter, Postnatal growth retardation, Arachnodactyly, Long toe, L...	OMIM:619489
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast...	OMIM:223800
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Muscular dystrophy, Kyphoscoliosis, Joint hypermo...	OMIM:616470
Rhizomelic Chondrodysplasia Punctata, Type 5	Metaphyseal cupping, Skeletal muscle atrophy, Contractures of the large joints, Short femoral nec...	OMIM:616716
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Femoral bowing, Increased susceptibility to fractures, Short stature, Scoliosis, Recu...	OMIM:615066
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Growth delay, Nevus, Hypophosphatemic rickets, Linear nevus sebaceous, Kyphoscoliosis...	OMIM:163200
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Genu valgum, Intervertebral space narrowing, Narrow vertebral interpedicular distance, Talipes eq...	OMIM:143095
Intellectual Developmental Disorder, Autosomal Recessive 39	Short stature, Hallux valgus, Kyphoscoliosis	OMIM:615541
Bruck Syndrome 2	Platyspondyly, Osteopenia, Elbow flexion contracture, Femoral bowing, Inguinal hernia, Knee flexi...	OMIM:609220
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Hypoplastic cervical vertebrae, Knee dislocation, Small epiphyses, Joint hypermobility, Lumbar sc...	OMIM:620269
Hypertrophic Neuropathy Of Dejerine-Sottas	Ulnar claw, Distal amyotrophy, Pes cavus, Foot dorsiflexor weakness, Kyphoscoliosis, Distal lower...	OMIM:145900
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Lower limb asymmetry, Growth delay, Osteom...	ORPHA:289176
Bruck Syndrome	Platyspondyly, Joint stiffness, Recurrent fractures, Bowing of the long bones, Talipes equinovaru...	ORPHA:2771
Brown-Vialetto-Van Laere Syndrome 2	Limb muscle weakness, Kyphoscoliosis, Split hand, Facial palsy, Scoliosis, Generalized amyotrophy	OMIM:614707
Ehlers-Danlos Syndrome, Periodontal Type, 1	Umbilical hernia, Atrophic scars, Inguinal hernia, Generalized joint hypermobility, Hiatus hernia...	OMIM:130080
Microcephalic osteodysplastic primordial dwarfism, type III	Severe short stature, Ulnar deviation of finger, Slender long bone, Hypoplasia of the capital fem...	OMIM:210730
Ichthyosis--Cheek--Eyebrow Syndrome	Pes planus, Kyphoscoliosis	OMIM:146720
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Symphalangism of the thumb, Short toe, Clinodactyly, Broad hallux, Intrauterine growth retardatio...	OMIM:620494
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Growth delay, Bulging epiphyses, Rickets, Fibular bowing, Femora...	OMIM:241530
Dermatoosteolysis, Kirghizian Type	Skin ulcer, Abnormal diaphysis morphology, Abnormal foot morphology, Abnormal metaphysis morpholo...	ORPHA:1657
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Striae distensae, Osteoporosis, Kyphosis, Thin skin	OMIM:610475
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, ...	ORPHA:1423
Acrootoocular Syndrome	Small hypothenar eminence, Short toe, Sandal gap, Short finger, Grayish enamel, Micrognathia, Kyp...	ORPHA:2980
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Kyphoscoliotic Ehlers-Danlos Syndrome	Micrognathia, Myopathy, Arachnodactyly, Talipes equinovarus, Pes planus, Hip dislocation, Osteope...	ORPHA:536545
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Aplasia/Hypoplasia of the skin, Pulmonary embolism, Skin ulcer, Thin skin	ORPHA:743
Smith-Mccort Dysplasia 1	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg...	OMIM:607326
Spondylometaphyseal Dysplasia, Pagnamenta Type	Platyspondyly, Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpa...	OMIM:619638
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Cerebrooculofacioskeletal Syndrome 2	Camptodactyly of finger, Intrauterine growth retardation, Micrognathia, Kyphoscoliosis, Rocker bo...	OMIM:610756
Glass Syndrome	Micrognathia, Facial hypotonia, Inguinal hernia, Arachnodactyly, Talipes equinovarus, Camptodacty...	OMIM:612313
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Micrognathia, Bowing of the long bones, Abnormal metacarpal morph...	ORPHA:628
Idiopathic Hypercalciuria	Osteoporosis, Osteopenia	ORPHA:2197
Ruvalcaba Syndrome	Small hand, Micromelia, Limited elbow extension, Inguinal hernia, Short phalanx of finger, Short ...	OMIM:180870
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Limb muscle weakness, Shor...	ORPHA:239
Crisponi/Cold-Induced Sweating Syndrome 1	Radial deviation of finger, Elbow flexion contracture, Micrognathia, Limited elbow extension, Kyp...	OMIM:272430
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen...	OMIM:618052
Lenz-Majewski Hyperostotic Dwarfism	Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of the hand, Elbow flexion contract...	OMIM:151050
Charcot-Marie-Tooth Disease Type 1A	Calf muscle hypertrophy, Pes cavus, Skeletal muscle atrophy, Kyphoscoliosis	ORPHA:101081
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Aplasia/Hypoplasia of the skin, Pulmonary embolism, Thin skin	ORPHA:745
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Growth delay, Bulging epiphyses, ...	OMIM:264700
Dermoodontodysplasia	Thin skin	OMIM:125640
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Distal amyotrophy, Kyphoscoliosis	OMIM:619099
19P13.3 Microduplication Syndrome	Clinodactyly, Intrauterine growth retardation, Micrognathia, Pes cavus, Kyphoscoliosis, Long fing...	ORPHA:447980
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Growth delay, Bulging epiphyses, ...	OMIM:277440
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing...	ORPHA:93315
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormal vertebral morphology, Platyspondyly, Aplasia/hypoplasia involving bones of the extremiti...	ORPHA:93346
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Classical-Like Ehlers-Danlos Syndrome Type 2	Cellulitis, Micrognathia, Arachnodactyly, Ventral hernia, Pes planus, Hip dislocation, Osteopenia...	ORPHA:536532
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Hypoplastic iliac wing, Postnatal growth retardation, Carpal bon...	OMIM:611717
Paternal Uniparental Disomy Of Chromosome 5	Rhizomelic arm shortening, Short lower limbs, Abnormal fibular epiphysis morphology, Kyphoscoliosis	ORPHA:96190
Robinow Syndrome, Autosomal Dominant 2	Mesomelia, Short distal phalanx of finger, Broad thumb, Clinodactyly, Umbilical hernia, Micrognat...	OMIM:616331
Stuve-Wiedemann Syndrome 2	Intrauterine growth retardation, Bowing of the long bones, Short long bone, Camptodactyly, Scoliosis	OMIM:619751
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Broad foot, Pes planus, ...	ORPHA:93357
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening...	OMIM:114290
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Disproportiona...	ORPHA:168549
Mucolipidosis Type Iii Alpha/Beta	Umbilical hernia, Osteolysis, Postnatal growth retardation, Joint stiffness, Diastasis recti, Kyp...	ORPHA:423461
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Erythem...	ORPHA:485
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Myopathy, Left bundle branch block, Hepatomegaly, Ven...	OMIM:115197
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Minicore myopathy, Webbed neck, Arthrogryposis multiplex congenita, Clinodactyly, Increased endom...	ORPHA:178148
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Small hand, Micrognathia, Pes cavus, Kyphoscoliosis, Wrist flexion contracture, Short neck, Facia...	OMIM:300055
19Q13.11 Microdeletion Syndrome	Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Intrauterine gro...	ORPHA:217346
Hyperparathyroidism, Transient Neonatal	Osteopenia, Fractured rib, Metaphyseal spurs, Umbilical hernia, Femoral bowing, Inguinal hernia, ...	OMIM:618188
Larsen-Like Syndrome	Radial deviation of the 4th finger, Kyphoscoliosis, Joint hypermobility, Talipes equinovarus, Bip...	OMIM:608545
Spondyloenchondrodysplasia With Immune Dysregulation	Platyspondyly, Metaphyseal irregularity, Scoliosis, Short iliac bones, Rheumatoid arthritis, Juve...	OMIM:607944
Osteogenesis Imperfecta, Type Xxii	Multiple small vertebral fractures, Dentinogenesis imperfecta, Slender long bone, Intrauterine gr...	OMIM:619795
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Short neck, Flat acetabular roof, Short distal phala...	OMIM:271700
Spinocerebellar Ataxia, Autosomal Recessive 20	Clinodactyly, Kyphoscoliosis, Talipes equinovarus, Brachydactyly, Camptodactyly, Macroglossia, Sc...	OMIM:616354
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Genu valgum, Broad foot, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot...	OMIM:250420
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Platyspondyly, Epiphyseal dysplasia, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared ...	OMIM:215150
Langer Mesomelic Dysplasia	Severe short stature, Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Dispr...	ORPHA:2632
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Thoracic platyspondyly, Increased intervertebral space, Sho...	OMIM:618961
Adams-Oliver Syndrome 4	Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p...	OMIM:615297
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi...	ORPHA:3409
Adams-Oliver Syndrome 3	Short distal phalanx of finger, Short 5th toe, 2-3 toe syndactyly, Aplasia cutis congenita, Short...	OMIM:614814
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Broad thumb, Thin skin, Prominent fingertip pads, Prominent crus of helix, Joint hypermobility, T...	OMIM:617804
Dysosteosclerosis	Absent paranasal sinuses, Sclerosis of hand bone, Dermal atrophy, Micrognathia, Increased interve...	OMIM:224300
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Dermal atrophy, Milia, Erythematous plaque, Abnormality of the lower limb, Palmoplantar hyperkera...	ORPHA:158673
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Abnormal vertebral morphology, Intrauterine growth retardation, Increased vertebral height, Micro...	OMIM:616817
Achondroplasia	Flat acetabular roof, Disproportionate short stature, Cervical spinal canal stenosis, Limited elb...	ORPHA:15
Frank-Ter Haar Syndrome	Micrognathia, Anterior concavity of thoracic vertebrae, Bowing of the long bones, Talipes equinov...	OMIM:249420
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Narrow vertebral interpedicular distance, Short neck, Genu varum...	OMIM:602557
13Q12.3 Microdeletion Syndrome	Intrauterine growth retardation, Congenital diaphragmatic hernia, Kyphoscoliosis, Hip dysplasia, ...	ORPHA:412035
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Striae distensae, Biconcave vertebral bodies, Osteoporosis, Vertebral co...	OMIM:219090
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic ischia, Ovoi...	OMIM:151210
Chondrodysplasia Punctata 2, X-Linked Dominant	Abnormal pelvic girdle bone morphology, Rhizomelia, Postnatal growth retardation, Punctate verteb...	OMIM:302960
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Micrognathia, Short neck, Co...	OMIM:266920
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora...	OMIM:300009
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Platyspondyly, Metaphyseal irregularity, Short femoral neck, Knee dislocation, Joint hypermobilit...	OMIM:618395
Danon Disease	Myocardial necrosis, Skeletal muscle autophagosome accumulation, Dilated cardiomyopathy, Generali...	OMIM:300257
Arthrogryposis, Distal, Type 4	Osteopenia, Camptodactyly of 2nd-5th fingers, Equinovarus deformity, Deviation of the 2nd toe, Fi...	OMIM:609128
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Dentinogenesis imperfecta, Disproportionate short-limb short stature, Recurrent fr...	OMIM:259440
Recon Progeroid Syndrome	Skeletal muscle atrophy, Growth delay, Long thumb, Joint hypermobility, Arachnodactyly, Short sta...	OMIM:620370
Coffin-Siris Syndrome 6	Clinodactyly, Micrognathia, Kyphoscoliosis, Brachydactyly, Short stature, Diaphragmatic eventration	OMIM:617808
Congenital Contractural Arachnodactyly	Congenital contracture, Congenital kyphoscoliosis, Arthrogryposis multiplex congenita, Camptodact...	ORPHA:115
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Metaphyseal irregularity, Abnormal pelvic girdle bone morphology, R...	OMIM:307800
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Progressive congenital scoliosis, Platyspondyly, Congenital hip dislocation, Osteopenia, Mollusco...	OMIM:225400
Stickler Syndrome, Type Iv	Platyspondyly, Epiphyseal dysplasia, Short femoral neck, Hypoplastic iliac wing, Irregular femora...	OMIM:614134
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Striae distensae, Osteoporosis, Kyphosis, Thin skin	OMIM:610489
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Rhizomelia, Kyphosis, Abnormal form of the vertebral bodies, Abno...	ORPHA:3098
Calvarial Doughnut Lesions With Bone Fragility	Platyspondyly, Osteopenia, Severe short stature, Femoral bowing, Osteoporosis, Scoliosis, Recurre...	OMIM:126550
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Genu recurvatum, Pes cavus, Kyphoscoliosis, Talipes equinovarus, Split hand, Short stature, Acute...	OMIM:604168
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri...	OMIM:616201
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro...	OMIM:601419
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Webbed neck, Decreased muscle mass, Long hallux, Kyphoscoliosis, Talipes equinovarus, Short neck,...	OMIM:309583
Long Qt Syndrome 15	Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard...	OMIM:616249
Catel-Manzke Syndrome	Hyperphalangy of the 2nd finger, Short toe, Umbilical hernia, Ulnar deviation of the 2nd finger, ...	OMIM:616145
Foxg1 Syndrome	Short stature, Severe postnatal growth retardation, Scoliosis, Kyphoscoliosis	ORPHA:561854
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Generalized osteoporosis, Limitation of joint mobility, Inguinal hernia, Biconcave vertebral bodi...	OMIM:236200
Arterial Tortuosity Syndrome	Rocker bottom foot, Avascular necrosis of the capital femoral epiphysis, Inguinal hernia, Joint h...	ORPHA:3342
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia	OMIM:614896
Bent Bone Dysplasia Syndrome 2	Short tibia, Hypoplastic iliac wing, Talipes equinovarus, Short neck, Osteopenia, Short 1st metac...	OMIM:620076
Charcot-Marie-Tooth Disease, Type 4D	Distal amyotrophy, Pes cavus, Claw hand deformity, Kyphoscoliosis, Talipes cavus equinovarus, Ham...	OMIM:601455
Ane Syndrome	Multiple joint contractures, Kyphoscoliosis, Delayed puberty, Ulnar deviation of the hand, Short ...	ORPHA:157954
Atrophoderma Vermiculata	Hyperkeratotic papule, Hypoplastic pilosebaceous units, Atrophic scars, Periauricular skin pits, ...	ORPHA:79100
Czech Dysplasia	Platyspondyly, Limitation of joint mobility, Short toe, Short femoral neck, Thoracic kyphosis, In...	OMIM:609162
Otopalatodigital Syndrome, Type Ii	Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Postnatal growth retardation, Ove...	OMIM:304120
Acromesomelic Dysplasia 2C	Acromesomelia, Shortening of all middle phalanges of the fingers, Short tibia, Short thumb, Radia...	OMIM:201250
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Wide anterior fontanel, Neonatal short-limb short stature, Disproporti...	OMIM:259420
Arthrogryposis Multiplex Congenita 5	Hand clenching, Arthrogryposis multiplex congenita, Micrognathia, Talipes equinovarus, Short neck...	OMIM:618947
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Di...	OMIM:253200
Charcot-Marie-Tooth Disease, Type 4A	Ulnar claw, Distal amyotrophy, Hammertoe, Kyphoscoliosis	OMIM:214400
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Centrally nucleated skeletal muscle fibers, Pes cavus, Foot dorsiflexor weakness, Kyphoscoliosis,...	OMIM:619574
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Disproportionate short-limb short stature, Short femoral neck, Flared metaphysis, Short palm, Equ...	ORPHA:2502
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Disproportionate short-trunk short stature,...	OMIM:300106
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Intrauterine growth retardation, Kyphoscoliosis, Limb undergrowth, Joint contracture,...	OMIM:618005
Arterial Tortuosity Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic regurgitation, Umbilical hernia, Ischemic ...	OMIM:208050
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Broad thumb, Postnatal growth retardation, Broad foot, Short neck, Pes plan...	OMIM:615777
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Platyspondyly, Osteopenia, Proximal femoral epiphysiolysis, Short femoral neck, Overlapping toe, ...	OMIM:616723
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Severe short stature, Joint contracture of the hand, Neonatal short-limb short stature, Limitatio...	OMIM:224400
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tip-toe gait, L...	ORPHA:268
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Osteopenia, Pathologic fracture, Recurrent fractures, Increased susceptibility to ...	OMIM:259770
Autosomal Recessive Spastic Paraplegia Type 23	Multiple lentigines, Short stature, Hip dislocation, Kyphoscoliosis	ORPHA:101003
Dermoodontodysplasia	Melanocytic nevus, Thin skin	ORPHA:1660
Pseudoleprechaunism Syndrome, Patterson Type	Long foot, Abnormal odontoid process morphology, Genu valgum, Delayed pubic bone ossification, Me...	ORPHA:2976
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Kyphoscoliosis	OMIM:117850
Intellectual Disability-Developmental Delay-Contractures Syndrome	Distal amyotrophy, Kyphosis, Limitation of joint mobility, Clinodactyly of the 5th finger, Scolio...	ORPHA:3454
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Dysplastic sacrum, Wide distal ...	OMIM:613320
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi...	OMIM:311300
Acrorenal-Mandibular Syndrome	Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula, Elbow fle...	OMIM:200980
Anauxetic Dysplasia 3	Platyspondyly, Broad middle phalanx of finger, Metaphyseal cupping, Severe short stature, Short m...	OMIM:618853
Allan-Herndon-Dudley Syndrome	Skeletal muscle atrophy, Kyphoscoliosis, Ankle clonus, Pes valgus, Pes planus, Limb hypertonia, S...	ORPHA:59
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,...	ORPHA:2041
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Sandal gap, Short tibia, Butterfly vertebrae, Short humerus, Short ribs, Talipes equi...	OMIM:607143
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Osteomalacia, Postnatal ...	ORPHA:289157
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Small hand, Rocker bottom foot, Microretrognathia, Clinodactyly, Overlapping toe, Intrauterine gr...	ORPHA:488642
Atrial Fibrillation, Familial, 18	Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri...	OMIM:617280
Fixed Subaortic Stenosis	Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology...	ORPHA:3092
Schneckenbecken Dysplasia	Platyspondyly, Hypoplastic scapulae, Disproportionate short-limb short stature, Umbilical hernia,...	OMIM:269250
Intermediate Osteopetrosis	Cortical sclerosis, Osteomyelitis, Recurrent fractures, Increased susceptibility to fractures, Ge...	ORPHA:210110
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Osteopenia, Rhizomelia, Microretrognathia, Decreased calvarial ossification, Bowin...	OMIM:616229
Tetrasomy 15Q26	Microretrognathia, Intrauterine growth retardation, Kyphoscoliosis, Arachnodactyly, Camptodactyly	OMIM:614846
Loeys-Dietz Syndrome 5	Flexion contracture of toe, Bilateral coxa valga, Decreased muscle mass, Nevus flammeus, Reduced ...	OMIM:615582
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Localized osteoporosis, Back pain, Cervical spondylosis, Kyphoscoliosis	ORPHA:199354
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:616812
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:614096
Intellectual Developmental Disorder, X-Linked 111	Kyphoscoliosis	OMIM:301107
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Warburg Micro Syndrome 3	Decreased muscle mass, Postnatal growth retardation, Micrognathia, Kyphoscoliosis, Ankle clonus, ...	OMIM:614222
Seckel Syndrome 8	Short stature, Micrognathia, Kyphoscoliosis	OMIM:615807
Microphthalmia, Syndromic 13	Short stature, Kyphoscoliosis	OMIM:300915
Mucopolysaccharidosis Type 4	Platyspondyly, Abnormal epiphysis morphology, Spinal canal stenosis, Abnormal dental enamel morph...	ORPHA:582
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Micrognathia, Hip contracture, Bowing of th...	OMIM:210710
Kagami-Ogata Syndrome	Micrognathia, Diastasis recti, Inguinal hernia, Kyphoscoliosis, Limb undergrowth, Long fingers, O...	OMIM:608149
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Palmoplantar keratoderma, Joint stiffness, Micrognathia, Reduced bone mineral density, Reduced su...	ORPHA:1979
Monosomy 18P	Webbed neck, Micrognathia, Kyphoscoliosis, Short neck, Brachydactyly, Short stature	ORPHA:1598
Leukodystrophy, Hypomyelinating, 3	Lower limb amyotrophy, Joint contracture, Kyphoscoliosis	OMIM:260600
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Radioulnar synosto...	OMIM:134780
Mandibuloacral Dysplasia With Type A Lipodystrophy	Increased adipose tissue around the neck, Dermal atrophy, Postnatal growth retardation, Micrognat...	OMIM:248370
Sick Sinus Syndrome 2	Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri...	OMIM:163800
Campomelic Dysplasia	Small abnormally formed scapulae, Hip dislocation, Tracheomalacia, 11 pairs of ribs, Femoral bowi...	ORPHA:140
Atypical Werner Syndrome	Limitation of joint mobility, Sclerosis of hand bone, Generalized lipodystrophy, Micrognathia, In...	ORPHA:79474
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox...	OMIM:614302
Chromosome 2P16.1-P15 Deletion Syndrome	Joint contracture of the hand, Postnatal growth retardation, Intrauterine growth retardation, Kyp...	OMIM:612513
Porokeratosis Of Mibelli	Aplasia/Hypoplasia of the skin	ORPHA:735
Long Qt Syndrome 16	Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,...	OMIM:618782
Musculocontractural Ehlers-Danlos Syndrome	Atlantoaxial dislocation, Slender finger, Cervical kyphosis, Arthrogryposis multiplex congenita, ...	ORPHA:2953
Hajdu-Cheney Syndrome	Genu valgum, Fibular bowing, Micrognathia, Crowded carpal bones, Absent frontal sinuses, Short ne...	OMIM:102500
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Thin skin	ORPHA:1810
Basal Cell Nevus Syndrome 1	Palmar pits, Plantar pits, Short distal phalanx of the thumb, Vertebral wedging, Skin tags, Milia...	OMIM:109400
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Preaxial foo...	OMIM:277170
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ...	ORPHA:1329
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Postnatal growth retardation, Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies...	OMIM:608940
Mitochondrial Complex I Deficiency, Nuclear Type 8	Stiff neck, Kyphoscoliosis	OMIM:618230
Acrofacial Dysostosis, Palagonia Type	Small hand, Abnormal form of the vertebral bodies, Finger syndactyly, Dermal atrophy, Micrognathi...	ORPHA:1787
Hereditary Acrokeratotic Poikiloderma	Skin ulcer, Hypopigmented skin patches, Camptodactyly of finger, Finger syndactyly, Abnormal hip ...	ORPHA:2907
Congenitally Uncorrected Transposition Of The Great Arteries	Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A...	ORPHA:860
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Restrictive Dermopathy 1	Skin erosion, Rocker bottom foot, Overtubulated long bones, Intrauterine growth retardation, Micr...	OMIM:275210
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ...	OMIM:620265
Autosomal Recessive Kenny-Caffey Syndrome	Small hand, Postnatal growth retardation, Intrauterine growth retardation, Decreased skull ossifi...	ORPHA:93324
Dystrophic Epidermolysis Bullosa Pruriginosa	Atrophic scars, Milia, Dermal atrophy, Scarring, Skin plaque, Subcutaneous nodule, Papule	ORPHA:89843
Mucopolysaccharidosis, Type Iva	Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Short neck, Disproportio...	OMIM:253000
Rothmund-Thomson Syndrome Type 2	Dermal atrophy, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper limbs, Calcinos...	ORPHA:221016
Emanuel Syndrome	Preauricular skin tag, Congenital hip dislocation, Abnormality of the ankle, Growth delay, Preaur...	ORPHA:96170
Langer Mesomelic Dysplasia	Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Lumbar hyperlordosis, ...	OMIM:249700
Mucolipidosis Iii Gamma	Joint stiffness, Genu valgum, Claw hand deformity, Flared iliac wing, Short neck, Pes planus, Fla...	OMIM:252605
Intellectual Developmental Disorder, Autosomal Dominant 53	Genu valgum, Joint hypermobility, Blue nevus, Growth delay, Short femur	OMIM:617798
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Dislocation of the femoral h...	OMIM:616007
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Micrognathia, Tal...	OMIM:609945
Osteogenesis Imperfecta, Type Xviii	Umbilical hernia, Femoral bowing, Micrognathia, Biconcave vertebral bodies, Joint hypermobility, ...	OMIM:617952
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	2-3 toe syndactyly, Scoliosis, Short stature, Kyphoscoliosis	ORPHA:391307
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Sandal gap, Tetralogy of Fallot, Congenital diaphragmatic hernia, Pulmon...	OMIM:300887
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure...	ORPHA:324410
Oculocerebral Hypopigmentation Syndrome, Cross Type	Limitation of joint mobility, Abnormal thumb morphology, Inguinal hernia, Arachnodactyly, Short s...	ORPHA:2719
Laron Syndrome	Severe short stature, Delayed menarche, Limb undergrowth, Short long bone	OMIM:262500
Rothmund-Thomson Syndrome Type 1	Abnormal trabecular bone morphology, Osteopenia, Growth delay, Patellar hypoplasia, Abnormal dent...	ORPHA:221008
Epiphyseal Dysplasia, Baumann Type	Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ...	OMIM:610797
Neuraminidase Deficiency	Skeletal muscle atrophy, Cardiomyopathy, Epiphyseal stippling, Splenomegaly, Dysmetria, Inguinal ...	OMIM:256550
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Three M Syndrome 1	Short 5th finger, Slender long bone, Postnatal growth retardation, Intrauterine growth retardatio...	OMIM:273750
Kagami-Ogata Syndrome	Webbed neck, Limitation of joint mobility, Postnatal growth retardation, Micrognathia, Diastasis ...	ORPHA:254519
Infantile Sialic Acid Storage Disease	Osteopenia, Congestive heart failure, Splenomegaly, Cardiomegaly, Hepatomegaly, Metaphyseal irreg...	OMIM:269920
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta, Femoral bowing present at birth, straightening with time, Recurrent fr...	OMIM:166220
Tatton-Brown-Rahman Syndrome	Widely spaced toes, Short toe, Umbilical hernia, Proportionate short stature, Kyphoscoliosis, Joi...	ORPHA:404443
Acrocephalopolydactyly	Genu recurvatum, Short neck, Limb undergrowth, Brachydactyly, Short long bone	ORPHA:221054
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Dermal atrophy, Micrognathia, Lipodystrophy, Loss of subcutaneous adipose tissue in limbs, Joint ...	OMIM:615381
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,...	ORPHA:73230
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral segmentation defect, Talipes equinovarus, Short long bone, Vertebral fusion, Sacral dimple	OMIM:618845
Arterial Calcification, Generalized, Of Infancy, 2	Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ...	OMIM:614473
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Arthrogryposis And Ectodermal Dysplasia	Atypical scarring of skin, Joint contracture of the hand, Skeletal muscle atrophy, Abnormal denta...	OMIM:601701
Idiopathic Congenital Hypothyroidism	Umbilical hernia, Lethargy, Delayed proximal femoral epiphyseal ossification, Bradycardia, Macrog...	ORPHA:95717
Curry-Jones Syndrome	Toe syndactyly, Broad thumb, Finger syndactyly, Hypopigmented skin patches, Preaxial hand polydac...	ORPHA:1553
Marshall-Smith Syndrome	Atlantoaxial dislocation, Hypoplasia of the odontoid process, Bullet-shaped middle phalanges of t...	OMIM:602535
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteoporosis, Osteopenia, Increased susceptibility to fractures	OMIM:612287
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Congenital Myasthenic Syndrome	Spinal rigidity, Congenital hip dislocation, Distal amyotrophy, Microretrognathia, Muscle fiber a...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Spinal rigidity, Congenital hip dislocation, Distal amyotrophy, Microretrognathia, Muscle fiber a...	ORPHA:98914
Rothmund-Thomson Syndrome	Abnormal trabecular bone morphology, Osteopenia, Aplasia/Hypoplasia of the radius, Short thumb, A...	ORPHA:2909
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna	OMIM:231095
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Platyspondyly, Ivory epiphyses, Hypoplastic ilia, Metaphyseal irregularity, Abnormal epiphysis mo...	ORPHA:85167
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Osteopenia, Postnatal growth retardation, Intrauterine growth retardation, ...	OMIM:614732
Charcot-Marie-Tooth Disease, Type 4K	Skeletal muscle atrophy, Kyphoscoliosis	OMIM:616684
Melnick-Needles Syndrome	Short distal phalanx of finger, Hypoplastic scapulae, Flared metaphysis, Cone-shaped epiphyses of...	OMIM:309350
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Small hand, Congenital fibrosis of extraocular muscles, Postnatal growth retardation, Genu valgum...	ORPHA:300570
Mucopolysaccharidosis, Type Iiic	Joint stiffness, Kyphoscoliosis, Hernia, Ovoid thoracolumbar vertebrae, Beaking of vertebral bodi...	OMIM:252930
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Dilated cardiomyopathy, Skeletal muscle atrophy, Cardiomyopathy, Congestive heart f...	OMIM:615895
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Webbed neck, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Preauricular pit, Mitral regur...	OMIM:617506
Mulibrey Nanism	Congestive heart failure, Nevus flammeus, Cardiomegaly, Thickened cortex of long bones, Pericardi...	OMIM:253250
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Micrognathia, Talipes equinovarus, Aplasia/hypoplasia o...	ORPHA:2839
Mucopolysaccharidosis, Type Ivb	Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Disproportionate short-t...	OMIM:253010
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Myopathy, Cardiomegaly, Distal arthrogryposis, Lethargy, Arrhythmia, Ata...	ORPHA:42
Multiple Osteochondromas	Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology, Limited hip mo...	ORPHA:321
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Postnatal growth re...	ORPHA:96334
Developmental And Epileptic Encephalopathy 41	Flexion contracture, Kyphoscoliosis	OMIM:617105
Thalidomide Embryopathy	Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi...	ORPHA:3312
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Sandal gap, Abnormal dental enamel morphology, Inguinal hernia, Abnormal fibula morphology, Thin ...	ORPHA:1812
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis	OMIM:612301
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Craniosynostosis	ORPHA:88643
Galloway-Mowat Syndrome 7	Clinodactyly, Micrognathia, Partial duplication of thumb phalanx, Kyphoscoliosis, Arachnodactyly,...	OMIM:618348
Dystonia-Deafness Syndrome 1	Hypoplastic scapulae, Femoral retroversion, Kyphoscoliosis	OMIM:607371
Timothy Syndrome	Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car...	OMIM:601005
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Cardiomegaly, Lethargy, Ventricular tachycardia, Hepatomegaly	OMIM:600649
Cog1-Cdg	Osteopenia, Rhizomelia, Postnatal growth retardation, Micrognathia, Butterfly vertebrae, Kyphosco...	ORPHA:263508
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Postnatal growth re...	OMIM:210720
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f...	OMIM:206920
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Loeys-Dietz Syndrome	Atypical scarring of skin, Camptodactyly of finger, Striae distensae, Micrognathia, Joint hypermo...	ORPHA:60030
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Growth delay, Clinodactyly, Radial deviation of finger, Umbilical hernia, Postnatal growth retard...	OMIM:301040
Spinal Arteriovenous Metameric Syndrome	Nevus flammeus, Abnormality of the vertebral column, Cutaneous angiolipomas, Kyphoscoliosis	ORPHA:53721
Gillessen-Kaesbach-Nishimura Syndrome	Micrognathia, Congenital diaphragmatic hernia, Decreased skull ossification, Short neck, Narrow g...	OMIM:263210
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia	ORPHA:85447
Combined Oxidative Phosphorylation Deficiency 32	Joint contracture, Kyphoscoliosis	OMIM:617664
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocardial fibroelastosis...	OMIM:212140
Intermediate Generalized Junctional Epidermolysis Bullosa	Palmoplantar keratoderma, Atrophic scars, Milia, Scarring alopecia of scalp, Aplasia cutis congen...	ORPHA:79402
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dermal atrophy, Generalized lipodystrophy, Decreased adipose tissue around neck, Loss of truncal ...	OMIM:608612
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Camptodactyly of finger, Lumbar hyperlordosis, Bone cyst, Camptodact...	ORPHA:2848
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyopathy, Bradycardia	OMIM:618815
Self-Improving Dystrophic Epidermolysis Bullosa	Milia, Atrophic scars, Skin erosion, Aplasia cutis congenita	ORPHA:79411
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Rhabdomyolysis, Pre...	OMIM:212138
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Joint hypermobility, Pes planus, Scoliosis, Thin skin	ORPHA:449291
Helsmoortel-Van Der Aa Syndrome	Small hand, Prominent fingertip pads, Sandal gap, Short 4th toe, Broad hallux, Intrauterine growt...	OMIM:615873
Metaphyseal Chondrodysplasia, Jansen Type	Severe short stature, Osteopenia, Metaphyseal cupping, Pathologic fracture, Micrognathia, Knee fl...	OMIM:156400
Atrial Septal Defect 6	Atrial fibrillation, Atrial septal defect, Bradycardia	OMIM:613087
Brachyolmia Type 3	Platyspondyly, Radial deviation of finger, Clinodactyly, Short femoral neck, Proximal femoral met...	OMIM:113500
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Synovitis, Irregular sclerotic endplates, Hypoplastic ilia, ...	ORPHA:3455
Thanatophoric Dysplasia, Type I	Platyspondyly, Small abnormally formed scapulae, Hypoplastic ilia, Disproportionate short-limb sh...	OMIM:187600
Coenzyme Q10 Deficiency, Primary, 7	Hypoplastic left heart, Bradycardia, Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:616276
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Congestive heart failure, Left ventricular hypertrophy, Bradycardia, Hep...	OMIM:619048
Kaufman Oculocerebrofacial Syndrome	Preauricular skin tag, Congenital hip dislocation, Micrognathia, Metatarsus adductus, Short statu...	OMIM:244450
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, H...	OMIM:261740
Kosaki Overgrowth Syndrome	Long foot, Xanthelasma, Thoracolumbar scoliosis, Scoliosis, Thin skin	OMIM:616592
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna...	OMIM:215140
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Clinodactyly, Kyphoscoliosis, Talipes equinovarus, Brachydactyly, Camptodactyly, Macroglossia, Ne...	ORPHA:397709
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Finger syndactyly, Abnormal metacarpal morphology, Elbow ankylosis,...	ORPHA:2658
Cantu Syndrome	Congenital hypertrophy of left ventricle, Erlenmeyer flask deformity of the femurs, Broad hallux,...	OMIM:239850
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Congenital hip dislocation, Hypoplasia of the musculature, Shoulder gi...	ORPHA:2020
Episodic Ataxia Type 1	Hand clenching, Calf muscle hypertrophy, Scoliosis, Kyphoscoliosis	ORPHA:37612
Flynn-Aird Syndrome	Skeletal muscle atrophy, Skin ulcer, Dermal atrophy, Joint stiffness, Bone cyst, Scoliosis, Kyphosis	ORPHA:2047
Adult Syndrome	Toe syndactyly, Finger syndactyly, Skin ulcer, Melanocytic nevus, Split foot, Thin skin	ORPHA:978
Fibrochondrogenesis 2	Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Micrognathia, Short ribs, Hypoplastic pubic...	OMIM:614524
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Polydactyly, Brachydactyly, Short long bone, Short stature, Scoliosis	OMIM:613819
Dysostosis, Stanescu Type	Abnormal epiphysis morphology, Micromelia, Massively thickened long bone cortices, Increased bone...	ORPHA:1798
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Short neck, Broad phalanx, Sh...	OMIM:271665
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ...	OMIM:250220
Fibrochondrogenesis 1	Joint contracture of the hand, Hypoplastic scapulae, Small hand, Broad long bones, Short neck, Br...	OMIM:228520
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Patent foramen ovale, Bradycardia	OMIM:617182
Cirrhotic Cardiomyopathy	Congestive heart failure, Fourth heart sound, Ventricular arrhythmia, Elevated pulmonary artery p...	ORPHA:57777
Mucolipidosis Iii Alpha/Beta	Shallow acetabular fossae, Limitation of joint mobility, Irregular carpal bones, Inguinal hernia,...	OMIM:252600
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Flexion contracture, Aplasia cutis congenita	OMIM:612138
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Decreased muscle mass, Congestive heart failure, Joint stiffness, Portal hyperten...	ORPHA:465508
Saul-Wilson Syndrome	Platyspondyly, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of ...	OMIM:618150
Wiedemann-Rautenstrauch Syndrome	Clinodactyly, Micrognathia, Reduced subcutaneous adipose tissue, Talipes equinovarus, Short neck,...	OMIM:264090
Dyssegmental Dysplasia, Silverman-Handmaker Type	Severe short stature, Anisospondyly, Hypoplastic ilia, Limitation of joint mobility, Micromelia, ...	ORPHA:1865
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Hip dislocation, Hypoplasia of the odontoid process, Atlantoaxial instability, Lim...	OMIM:183900
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
8Q24.3 Microdeletion Syndrome	Infancy onset short-trunk short stature, Naevus flammeus of the eyelid, Skin tags, Talipes, Short...	ORPHA:508488
Even-Plus Syndrome	Epiphyseal dysplasia, Severe short stature, Dysplasia of the femoral head, Short neck, Aplasia cu...	OMIM:616854
Refsum Disease, Classic	Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly, Arrhythmia, Ataxia,...	OMIM:266500
Tako-Tsubo Cardiomyopathy	Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,...	ORPHA:66529
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Ragged-red muscle fibers...	ORPHA:17
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc...	ORPHA:99956
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Subcutaneous nodule, Kyphoscoliosis	OMIM:618339
Cole-Carpenter Syndrome	Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Intrauterine growth ret...	ORPHA:2050
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Atypical scarring of skin, Milia, Mitten deformity, Scarring alopecia of scal...	ORPHA:251393
Rhyns Syndrome	Osteopenia, Radial bowing, Brachydactyly, Short long bone, Short stature, Osteoporosis, Short fem...	OMIM:602152
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Thin skin, Palmoplantar keratoderma, Enamel hypoplasia, Short statu...	OMIM:129400
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Atlantoaxial instability, Skeletal muscle atrophy, Umbilical hernia, Large joint hype...	OMIM:614557
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Macroglossia, Osteopenia, Gastrointestinal hemorrhage, Hernia, Congestive ...	ORPHA:363705
Epidermolysis Bullosa, Junctional 1B, Severe	Atrophic scars, Milia, Enamel hypoplasia, Congenital localized absence of skin, Syndactyly	OMIM:226700
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Hypermobile Ehlers-Danlos Syndrome	Atypical scarring of skin, Limitation of joint mobility, Umbilical hernia, Abnormal foot morpholo...	ORPHA:285
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Atypical scarring of skin, Palmoplantar keratoderma, Joint stiffness, Aplasia/Hypoplasia of the s...	ORPHA:1366
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Small hand, Short thumb, Dermal atrophy, Micrognathia, Kyphoscoliosis...	OMIM:268400
Achondrogenesis, Type Ii	Microretrognathia, Disproportionate short-limb short stature, Broad long bones, Short tubular bon...	OMIM:200610
Neurodegeneration And Seizures Due To Copper Transport Defect	Talipes equinovarus, Limb hypertonia, Short tibia, Short femur	OMIM:620306
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Ritscher-Schinzel Syndrome 3	Short 1st metacarpal, Short first metatarsal, Postnatal growth retardation, Epiphyseal stippling,...	OMIM:619135
Focal Facial Dermal Dysplasia Type I	Spotty hypopigmentation, Atrophic scars, Aplasia cutis congenita, Skin dimple	ORPHA:79133
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:613327
Pyknoachondrogenesis	Abnormal intramembranous ossification, Webbed neck, Craniofacial hyperostosis, Unossified sacrum,...	ORPHA:3003
Hemochromatosis, Type 1	Cardiomyopathy, Congestive heart failure, Splenomegaly, Cardiomegaly, Telangiectasia, Arrhythmia,...	OMIM:235200
Cutis Marmorata Telangiectatica Congenita	Skin erosion, Toe syndactyly, Finger syndactyly, Intrauterine growth retardation, Micrognathia, R...	ORPHA:1556
Wrinkly Skin Syndrome	Congenital hip dislocation, Osteopenia, Deep plantar creases, Decreased muscle mass, Umbilical he...	ORPHA:2834
Bcard Syndrome	Platyspondyly, Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, E...	OMIM:612394
Adult Syndrome	Toe syndactyly, Dermal atrophy, Split hand, Split foot, Thin skin	OMIM:103285
Xeroderma Pigmentosum	Craniofacial hyperostosis, Hypopigmented skin patches, Dermal atrophy, Melanocytic nevus, Telangi...	ORPHA:910
X-Linked Intellectual Disability, Snyder Type	Webbed neck, Decreased muscle mass, Recurrent fractures, Kyphoscoliosis, Arachnodactyly, Slender ...	ORPHA:3063
Marfan Syndrome	Decreased muscle mass, Premature osteoarthritis, Micrognathia, Reduced subcutaneous adipose tissu...	OMIM:154700
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Stiff neck, Overlapping fingers, Femoral bowing, ...	OMIM:617022
Cole-Carpenter Syndrome 2	Platyspondyly, Dentinogenesis imperfecta, Lambdoidal craniosynostosis, Microretrognathia, Osteope...	OMIM:616294
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Lethargy, Cardiomegaly, Pulmonary arterial hypertension	OMIM:619064
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o...	OMIM:252500
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Limb ataxia, Cardi...	OMIM:619051
Congenital Myopathy 22A, Classic	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620351
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Broad long bones, Aplasia/Hypoplasia involving the pelvis, Rhizo-meso-acromelic limb shortening, ...	ORPHA:163654
Brachytelephalangic Chondrodysplasia Punctata	Hypoplastic cervical vertebrae, Postnatal growth retardation, Stippling of the epiphyses of the d...	ORPHA:79345
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Broad distal phalanx of finger, Micrognathia, Joint hypermobility, Talipes, Talipes equinovarus, ...	OMIM:300990
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Short stature, Kyphoscoliosis	ORPHA:3077
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly, Enamel hypoplasia, Syndactyly	OMIM:613576
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Cardiomyopathy, Hepatosplenomegaly, Portal hypertension, Talipes equinov...	OMIM:232500
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cardiomyopathy, Limb muscle weakness, Ragged-red muscle fibers, Arrhythmia, Gait disturbance, Bra...	OMIM:609286
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,...	ORPHA:615
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Congestive heart failure, Limb ataxia, Limb muscle weakness, Gait ataxia, Cardiom...	OMIM:619259
Progressive Hemifacial Atrophy	Aplasia/Hypoplasia of the skin, Micrognathia	ORPHA:1214
Congenital Myopathy 13	Skeletal muscle atrophy, Micrognathia, Kyphoscoliosis, Weakness of facial musculature, Fatty repl...	OMIM:255995
Xylt1-Cdg	Broad thumb, Growth delay, Clinodactyly, Flared metaphysis, Joint hypermobility, Short clavicles,...	ORPHA:370930
Ataxia-Telangiectasia	Skeletal muscle atrophy, Aplasia/Hypoplasia of the skin, Gait disturbance, Multiple cafe-au-lait ...	ORPHA:100
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Genu valgum, Congenital diaphragmatic hernia, Mitral valve prolapse, Bicuspi...	OMIM:245600
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,...	OMIM:613091
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Ankylosis, Recurrent fractures, Short humerus, Latera...	OMIM:239000
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Kyphoscoliosis	OMIM:300886
Atrial Standstill 2	Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri...	OMIM:615745
Autosomal Recessive Multiple Pterygium Syndrome	Webbed neck, Arthrogryposis multiplex congenita, Nevus, Finger syndactyly, Camptodactyly of finge...	ORPHA:2990
Oculocerebrocutaneous Syndrome	Preauricular skin tag, Short distal phalanx of finger, Congenital hip dislocation, Hypopigmented ...	ORPHA:1647
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa...	OMIM:620135
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap...	OMIM:276820
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618235
Dent Disease	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Sparse bone trabeculae...	ORPHA:1652
Stiff Skin Syndrome	Limitation of joint mobility, Aplasia/Hypoplasia of the skin, Short stature, Subcutaneous nodule,...	ORPHA:2833
Lipodystrophy, Familial Partial, Type 7	Lower limb muscle weakness, Decreased adipose tissue around neck, Gait ataxia, Reduced subcutaneo...	OMIM:606721
Werner Syndrome	Small hand, Chondrocalcinosis, Skeletal muscle atrophy, Skin ulcer, Joint stiffness, Aplasia/Hypo...	ORPHA:902
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Macule	ORPHA:858
Spinocerebellar Ataxia, Autosomal Recessive 31	Clinodactyly of the 5th finger, Lumbar kyphoscoliosis, Pes cavus, Growth delay	OMIM:619422
Camurati-Engelmann Disease	Limitation of joint mobility, Abnormal tibia morphology, Genu valgum, Pes planus, Metaphyseal dys...	ORPHA:1328
Adams-Oliver Syndrome 5	Umbilical hernia, Cutis marmorata telangiectatica congenita, Splenomegaly, Patent foramen ovale, ...	OMIM:616028
Xp22.3 Microdeletion Syndrome	Short stature, Aplasia/Hypoplasia of the skin, Sacral dimple	ORPHA:1643
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Clinodactyly of the 5th finger, Kyphoscoliosis	OMIM:620075
Mucopolysaccharidosis, Type Iiib	Joint stiffness, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Dense c...	OMIM:252920
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect	OMIM:616277
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Postnatal growth retardation, 11 pairs of ribs, Intrauterine growth retardation, Bicoronal synost...	OMIM:619184
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Thin metatarsal cortices, Hypoplasia of the musculature, Thin metacarpal cortices, Sm...	ORPHA:2463
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Palmar telangiectasia, Thin skin	OMIM:607823
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
Insulin-Like Growth Factor I Deficiency	Osteopenia, Postnatal growth retardation, Intrauterine growth retardation, Micrognathia, Short st...	OMIM:608747
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Exercise-induced rhabdom...	OMIM:201475
Glycogen Storage Disease Ii	Firm muscles, Sinus tachycardia, Difficulty walking, Limb muscle weakness, Splenomegaly, Shortene...	OMIM:232300
Microphthalmia With Limb Anomalies	Synostosis of joints, Postaxial foot polydactyly, Toe syndactyly, Synostosis of carpal bones, Sho...	ORPHA:1106
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Clinodactyly of the 5th finger, Joint contracture of the 5th finger, Long...	OMIM:614407
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Autosomal Recessive Spastic Paraplegia Type 77	Hip dysplasia, Lower limb amyotrophy, Equinovarus deformity, Kyphoscoliosis	ORPHA:466722
Geleophysic Dysplasia 1	Platyspondyly, Osteopenia, Joint contracture of the hand, Cone-shaped epiphysis, Short metacarpal...	OMIM:231050
Sick Sinus Syndrome 4	Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A...	OMIM:619464
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Bradycardia	OMIM:614702
Superficial Epidermolytic Ichthyosis	Palmoplantar keratoderma, Thin skin	ORPHA:455
Pontocerebellar Hypoplasia, Type 10	Kyphoscoliosis, Short neck, Limb hypertonia, Growth delay, Tapered finger	OMIM:615803
Warburg-Cinotti Syndrome	Ankle flexion contracture, Elbow flexion contracture, Wrist flexion contracture, Flexion contract...	OMIM:618175
Occipital Horn Syndrome	Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Pes planus, Abnormal fibula morph...	ORPHA:198
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia	OMIM:619170
Ablepharon Macrostomia Syndrome	Toe syndactyly, Camptodactyly of finger, Umbilical hernia, Omphalocele, Growth delay, Thin skin	ORPHA:920
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Diffuse palmoplantar hyperkeratosis, Dermal atrophy	OMIM:617294
Ulerythema Ophryogenesis	Hyperkeratotic papule, Dermal atrophy, Erythematous papule	ORPHA:3406
Familial Idiopathic Dilatation Of The Right Atrium	Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro...	ORPHA:1677
Ablepharon-Macrostomia Syndrome	Toe syndactyly, Cutaneous finger syndactyly, Ventral hernia, Talipes equinovarus, Omphalocele, Ca...	OMIM:200110
Floating-Harbor Syndrome	Broad thumb, Short 1st metacarpal, Umbilical hernia, Ivory epiphyses of the distal phalanges of t...	OMIM:136140
Coenzyme Q10 Deficiency, Primary, 5	Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy, Bradycardia	OMIM:614654
Monosomy 18Q	Kyphoscoliosis, Arachnodactyly, Talipes equinovarus, Joint hypermobility, Pes planus, Atlantoaxia...	ORPHA:1600
Distal Deletion 12Q	Congenital hypertrophy of left ventricle, Broad hallux, Elbow flexion contracture, Long foot, Ove...	ORPHA:96149
Focal Facial Dermal Dysplasia Type Iii	Aplasia/Hypoplasia of the skin, Abnormal sacroiliac joint morphology, Multiple cafe-au-lait spots...	ORPHA:1807
Cushing Disease	Skin ulcer, Striae distensae, Capillary fragility, Dorsocervical fat pad, Proximal amyotrophy, Os...	ORPHA:96253
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow flexion contracture, Difficulty walkin...	ORPHA:70
Developmental And Epileptic Encephalopathy 95	Preauricular skin tag, Short distal phalanx of finger, Macroglossia, Short fourth metatarsal, Umb...	OMIM:618143
Leopard Syndrome 1	Webbed neck, Multiple lentigines, Delayed menarche, Kyphoscoliosis, Missing ribs, Limited elbow m...	OMIM:151100
Intellectual Developmental Disorder, Autosomal Recessive 78	Clinodactyly of the 5th finger, Microretrognathia, Brachydactyly, Kyphoscoliosis	OMIM:620237
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub...	OMIM:119600
Cartilage-Hair Hypoplasia	Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoid process, Metaphyseal cupping, ...	OMIM:250250
Van Den Ende-Gupta Syndrome	Joint contracture of the hand, Hypoplastic scapulae, Long metacarpals, Long hallux, Micrognathia,...	OMIM:600920
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Bifid femur, Abnormal form of the vertebral bodies, Recurrent fractures, Abnor...	ORPHA:2769
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Abnormal dental enamel morphology, Dermal atrophy, Myopathy, Aplasia/Hypoplasia of the skin, Skin...	ORPHA:257
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
Hyperkeratosis Lenticularis Perstans	Aplasia/Hypoplasia of the skin, Papule, Skin ulcer	ORPHA:409
Opsismodysplasia	Hypoplastic ischia, Metaphyseal cupping, Hypoplasia of the odontoid process, Rhizomelia, Dispropo...	OMIM:258480
Osteogenesis Imperfecta, Type Xx	Disproportionate short-limb short stature, Intrauterine growth retardation, Kyphoscoliosis, Multi...	OMIM:618644
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia, Hypoplasia of the...	ORPHA:2256
Long Qt Syndrome 8	Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia...	OMIM:618447
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Inability to walk,...	OMIM:620066
Parkinson-Dementia Syndrome	Kyphoscoliosis	OMIM:260540
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
3Mc Syndrome	Caudal appendage, Umbilical hernia, Postnatal growth retardation, Diastasis recti, Radioulnar syn...	ORPHA:293843
Familial Thyroid Dyshormonogenesis	Umbilical hernia, Lethargy, Delayed proximal femoral epiphyseal ossification, Bradycardia, Macrog...	ORPHA:95716
Schinzel-Giedion Syndrome	Short distal phalanx of finger, Short 1st metacarpal, Umbilical hernia, Overlapping toe, Overlapp...	ORPHA:798
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho...	ORPHA:330001
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Postnatal growth retardation, Micrognathia, Patell...	ORPHA:3103
Robinow Syndrome	Short distal phalanx of finger, Umbilical hernia, Micrognathia, Kyphoscoliosis, Missing ribs, Bif...	ORPHA:97360
Desmosterolosis	Severe short stature, Micromelia, Dermal atrophy, Intrauterine growth retardation, Micrognathia, ...	ORPHA:35107
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr...	ORPHA:542306
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se...	OMIM:618652
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow pelvis bone, Femoral bowing, Humero...	OMIM:207410
Acitretin/Etretinate Embryopathy	Preauricular skin tag, Abnormality of the calcaneus, Third degree atrioventricular block, Atriove...	ORPHA:40366
Cantú Syndrome	Short distal phalanx of finger, Finger syndactyly, Umbilical hernia, Hypertrophic cardiomyopathy,...	ORPHA:1517
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteomalacia, Micrognathia, Short neck, Abnormal metacarpal morphology, Large hands, Aplasia/hypo...	ORPHA:2636
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Delayed epiphyseal ossification, Umbilical hernia, Bradycardia, Absent ossification of capital fe...	ORPHA:226313
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal tibia morphology, Long foot, Genu valgum, Micrognathia, Pes cavus, Bone cyst, Kyphoscoli...	ORPHA:363700
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi...	ORPHA:555874
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P...	ORPHA:1686
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails	Congenital localized absence of skin	OMIM:132000
Keutel Syndrome	Short stature, Dermal atrophy, Calcification of cartilage, Short distal phalanx of finger	ORPHA:85202
3Q27.3 Microdeletion Syndrome	Arachnodactyly, Kyphoscoliosis	ORPHA:397695
Cutis Laxa, Autosomal Recessive, Type Iid	Inguinal hernia, Reduced subcutaneous adipose tissue, Kyphoscoliosis, Talipes equinovarus, Joint ...	OMIM:617403
Poland Syndrome	Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Congenital diaphragmatic hernia...	ORPHA:2911
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai...	ORPHA:1478
Epidermolysis Bullosa, Lethal Acantholytic	Skin erosion, Sandal gap, Widely spaced toes, Mitten deformity, Aplasia cutis congenita, Clinodac...	OMIM:609638
Autosomal Recessive Spastic Paraplegia Type 9B	Skeletal muscle atrophy, Absent Achilles reflex, Kyphoscoliosis, Short stature, Growth delay	ORPHA:447760
Sick Sinus Syndrome 1	Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT...	OMIM:608567
You-Hoover-Fong Syndrome	Brachydactyly, Clinodactyly, Kyphoscoliosis	OMIM:616954
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short stature, Tapered finger, Short humerus, Short femur	OMIM:618367
Long Qt Syndrome 5	Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P...	OMIM:613695
Atrial Fibrillation, Familial, 7	Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio...	OMIM:612240
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c...	ORPHA:101016
Dyssegmental Dysplasia, Silverman-Handmaker Type	Severe short stature, Anisospondyly, Disproportionate short-limb short stature, Micromelia, Micro...	OMIM:224410
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Brachydactyly, Short long bone	OMIM:615633
Absence Of The Pulmonary Artery	Atrial flutter, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal heart morph...	ORPHA:980
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Polydactyly, Bowing of the long...	OMIM:614091
Mesomelia-Synostoses Syndrome	Abnormal vertebral morphology, Metacarpal synostosis, Tarsometatarsal synostosis, Mesomelia, Micr...	OMIM:600383
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Genu valgum, Short ribs, Brachydactyly, Short long bone, Postaxial hand polydactyly, Short statur...	OMIM:615630
Combined Oxidative Phosphorylation Deficiency 33	Cardiomyopathy, Myopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiac arrest	OMIM:617713
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Tapered toe, Dilated cardiomyopathy, Elbow flexion contracture, Increased muscle lipid content, K...	OMIM:608836
Cutis Laxa, Autosomal Recessive, Type Iic	Hand clenching, Overlapping toe, Reduced subcutaneous adipose tissue, Knee flexion contracture, K...	OMIM:617402
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Microretrognathia, Postnatal growth retardation, Intrauterine growth retardation, Pro...	OMIM:300966
Glycogen Storage Disease Due To Acid Maltase Deficiency	Vasculitis, Lower limb muscle weakness, Hypertrophic cardiomyopathy, Difficulty walking, Inabilit...	ORPHA:365
Adams-Oliver Syndrome	Short distal phalanx of finger, Finger syndactyly, Absent hand, Abnormality of the lower limb, Ta...	ORPHA:974
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Dyskeratosis Congenita	Coarse metaphyseal trabecularization, Skin ulcer, Hypopigmented skin patches, Palmoplantar kerato...	ORPHA:1775
Osteogenesis Imperfecta	Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Micrognathia, Decreased skul...	ORPHA:666
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Developmental And Epileptic Encephalopathy 101	Limb joint contracture, Third degree atrioventricular block, Bradycardia	OMIM:619814
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept...	OMIM:620609
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Limitation of joint mobility, Long foot, Lumbar hyperlordosis, Kyphoscoliosis, Arachnodactyly, Jo...	ORPHA:457359
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Genu valgum, Abnormal mitral valve morphology, Loss of ambulation, Ata...	ORPHA:581
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Acetabular spurs, Femoral bowing, Short ribs, Postaxial polydactyly, Brachy...	OMIM:615503
Primary Dystonia, Dyt4 Type	Torticollis, Kyphoscoliosis	ORPHA:98805
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly, Loss of ambulation, Choreoathetosis	ORPHA:391428
Glutamine Deficiency, Congenital	Camptodactyly, Flexion contracture, Micromelia, Bradycardia	OMIM:610015
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Calcification of the auricular cartilage, Abnormal form of the vertebral bodies, Osteolysis, Hip ...	ORPHA:3042
Gm1 Gangliosidosis Type 1	Platyspondyly, Abnormal odontoid tissue morphology, Beaking of vertebral bodies T12-L3, Intrauter...	ORPHA:79255
Short Qt Syndrome 2	Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde...	OMIM:609621
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Lethargy, Cardiomegaly, Arrhythmia	OMIM:255120
Intellectual Developmental Disorder, X-Linked 112	Kyphosis, Kyphoscoliosis, Joint hypermobility, Short stature, Scoliosis, Mild short stature	OMIM:301111
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Limb hypertonia, Inguinal hernia, Joint contracture, Bradycardia	OMIM:614498
Lethal Acantholytic Erosive Disorder	Hypovolemic shock, Cardiomyopathy, Cardiomegaly, Camptodactyly of toe, 2-3 finger syndactyly, 4-5...	ORPHA:158687
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricular noncomp...	OMIM:300967
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hypertrophic cardiomyopathy, Facial hypotonia, Heart murmur, Shortened PR interval, Cardiomegaly,...	ORPHA:308552
Vascular Ehlers-Danlos Syndrome	Mitral valve prolapse, Talipes equinovarus, Subcutaneous nodule, Inguinal hernia, Macule, Renovas...	ORPHA:286
Sandhoff Disease	Skeletal muscle atrophy, Hepatosplenomegaly, Cardiomegaly, Orthostatic hypotension, Ataxia, Hepat...	OMIM:268800
Adams-Oliver Syndrome 2	Micrognathia, Absent distal phalanges, Limb hypertonia, Aplasia cutis congenita, Short middle pha...	OMIM:614219
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial foot polydactyly, Disproportionate short-limb short stature, Ne...	OMIM:225500
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor...	ORPHA:1457
Hypohidrotic Ectodermal Dysplasia	Thin skin	ORPHA:238468
Cardiac Arrhythmia, Ankyrin-B-Related	Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death	OMIM:600919
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Hypophosphatemic rickets, Cardiomegaly, Ankylos...	OMIM:208000
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Toe syndactyly, Inguinal hernia, Hand polydactyly, Split hand, Split foot, Thin skin	OMIM:129900
Abetalipoproteinemia	Osteopenia, Pes cavus, Myopathy, Kyphoscoliosis, Distal lower limb muscle weakness, Talipes equin...	ORPHA:14
Bohring-Opitz Syndrome	Naevus flammeus of the eyelid, Congenital contracture, Limitation of joint mobility, Inability to...	ORPHA:97297
Noonan Syndrome 1	Webbed neck, Clinodactyly, Radial deviation of finger, Postnatal growth retardation, Micrognathia...	OMIM:163950
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Bi...	OMIM:306955
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Dilated cardiomyopathy, Rhabdomyolysis, Ventricular septal defect, ...	OMIM:614921
Nodular Non-Suppurative Panniculitis	Splenomegaly, Aplasia/Hypoplasia of the skin, Hepatomegaly, Subcutaneous nodule, Panniculitis	ORPHA:33577
Lyme Disease	Atrioventricular block, Dermal atrophy, Arrhythmia, Arthritis, Skin nodule	ORPHA:91546
Fucosidosis	Hepatomegaly, Cardiomegaly, Lipoatrophy, Decreased muscle mass	ORPHA:349
Histiocytosis-Lymphadenopathy Plus Syndrome	Clinodactyly, Tibial torsion, Camptodactyly of finger, Elbow flexion contracture, Hepatosplenomeg...	OMIM:602782
Tetanus	Localized skin lesion, Stiff neck, Bradycardia, Tachycardia, Hypertension	ORPHA:3299
Lipoyltransferase 1 Deficiency	Pulmonary arterial hypertension, Bradycardia	OMIM:616299
Beck-Fahrner Syndrome	Cardiomegaly, Facial hypotonia, Joint hypermobility, Ventricular septal defect	OMIM:618798
Illum Syndrome	Arthrogryposis multiplex congenita, Calcinosis, Bradycardia	OMIM:208155
Lowe Oculocerebrorenal Syndrome	Platyspondyly, Joint contracture of the hand, Keloids, Finger swelling, Hip dislocation, Rickets,...	OMIM:309000
Pseudo-Torch Syndrome 2	Secundum atrial septal defect, Bradycardia, Lethargy, Cerebral hemorrhage, Hepatomegaly	OMIM:617397
Mevalonic Aciduria	Short stature, Kyphoscoliosis	OMIM:610377
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Hand clenching, Corneal scarring, Ventricular septal defect, Talipes equinovarus, Bradycardia, Re...	OMIM:614653
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Microretrognathia, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Hypoplas...	OMIM:616300
Baller-Gerold Syndrome	Abnormal vertebral morphology, Lambdoidal craniosynostosis, Carpal synostosis, Dermal atrophy, Mi...	OMIM:218600
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Focal dermal aplasia/hypoplasia	OMIM:164180
Basilar Impression, Primary	Short neck, Limb muscle weakness, Kyphoscoliosis	OMIM:109500
Amyloidosis, Hereditary Systemic 1	Cardiomyopathy, Limb ataxia, Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, ...	OMIM:105210
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Hypoplastic-absent sebaceous glands, Thin skin	OMIM:305100
Idiopathic Pulmonary Hemosiderosis	Diffuse alveolar hemorrhage, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Heart murmur	ORPHA:99931
Floating-Harbor Syndrome	Clinodactyly, Short thumb, Avascular necrosis of the capital femoral epiphysis, 11 pairs of ribs,...	ORPHA:2044
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Hypothyroidism Due To Tsh Receptor Mutations	Umbilical hernia, Lethargy, Delayed proximal femoral epiphyseal ossification, Bradycardia, Macrog...	ORPHA:90673
Cushing Syndrome Due To Ectopic Acth Secretion	Skin ulcer, Striae distensae, Dorsocervical fat pad, Proximal amyotrophy, Osteoporosis, Vertebral...	ORPHA:99889
Aplasia Cutis-Myopia Syndrome	Aplasia cutis congenita, Skin ulcer	ORPHA:1117
Myhre Syndrome	Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Enlarged vertebral pedicles, ...	OMIM:139210
Alg12-Cdg	Sandal gap, Overlapping fingers, Micrognathia, Intrauterine growth retardation, Talipes equinovar...	ORPHA:79324
Combined Oxidative Phosphorylation Defect Type 39	Tip-toe gait, Loss of ambulation, Prominent calcaneus, Limb hypertonia, Bradycardia, Congenital f...	ORPHA:565624
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Synostosis involving the 1st metacarpal, Talipes valgus, Confetti-like hypopigmented macules, Kyp...	ORPHA:466791
Alg9-Cdg	Aplasia cutis congenita of scalp, Hypoplasia of the musculature, Rhizomelia, Microretrognathia, F...	ORPHA:79328
Atypical Progressive Supranuclear Palsy Syndrome	Kyphoscoliosis	ORPHA:99750
Huriez Syndrome	Aplasia/Hypoplasia of the skin, Palmoplantar keratoderma	ORPHA:384
Epidermolysis Bullosa Simplex With Pyloric Atresia	Aplasia cutis congenita of scalp, Skin erosion, Muscular dystrophy, Atrophic scars, Milia, Scarri...	ORPHA:158684
Proteasome-Associated Autoinflammatory Syndrome 1	Finger swelling, Arrhythmia, Flexion contracture of finger, Hepatomegaly, Skin plaque, Long finge...	OMIM:256040
Focal Dermal Hypoplasia	Toe syndactyly, Focal dermal aplasia/hypoplasia, Midclavicular aplasia, Dermal atrophy, Congenita...	OMIM:305600
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Short toe, Short finger, Intrauterine growth retardation, Bowing of the arm...	OMIM:269860
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Atypical scarring of skin, Skin erosion, Dilated cardiomyopathy, Nevus, Skeletal muscle atrophy, ...	ORPHA:89842
Fucosidosis	Spastic gait, Splenomegaly, Cardiomegaly, Hernia, Hepatomegaly, Macroglossia, Flexion contracture...	OMIM:230000
Robinow Syndrome, Autosomal Dominant 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, Short neck, Bro...	OMIM:180700
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Skeletal muscle atrophy, Inguinal hernia, Bradycardia	OMIM:619272
Infant Acute Respiratory Distress Syndrome	Tachycardia, Hypotension, Cardiac arrest, Bradycardia	ORPHA:70587
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent thumb, Slender long bone, Lumbar hyperlordosis, Intrauterine growth retardation, Kyphoscol...	ORPHA:500150
Genitourinary And/Or Brain Malformation Syndrome	Joint stiffness, Micrognathia, Kyphoscoliosis, Omphalocele, Syndactyly	OMIM:618820
Necrotizing Enterocolitis	Hypotension, Abnormal heart morphology, Shock, Lethargy, Bradycardia	ORPHA:391673
Familial Aortic Dissection	Cardiomegaly, Aortic regurgitation, Abnormal left ventricular function	ORPHA:229
Lichen Planopilaris	Dermal atrophy, Papule, Skin ulcer, Hypopigmented skin patches	ORPHA:525
Cockayne Syndrome B	Severe short stature, Atypical scarring of skin, Square pelvis bone, Limitation of joint mobility...	OMIM:133540
Pallister-Killian Syndrome	Small hand, Postaxial foot polydactyly, Micrognathia, Congenital diaphragmatic hernia, Broad foot...	OMIM:601803
Hallermann-Streiff Syndrome	Decreased number of sternal ossification centers, Slender long bone, Tracheomalacia, Dermal atrop...	OMIM:234100
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def...	OMIM:620642
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Slender finger, Clinodactyly, Radial deviation of finger, Lower limb hypertonia, Talipes calcaneo...	OMIM:309580
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Short stature, Hypoplastic pilosebaceous units, Cranial hyperostosis	OMIM:601345
Incontinentia Pigmenti	Short stature, Scarring, Hemivertebrae, Kyphoscoliosis	OMIM:308300
Pemphigus Erythematosus	Localized skin lesion, Skin erosion, Focal dermal aplasia/hypoplasia, Hypopigmented skin patches,...	ORPHA:79480
Kindler Epidermolysis Bullosa	Atypical scarring of skin, Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, ...	ORPHA:2908
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short tibia, Preaxial polydactyly, Micrognathia, Fibular hypoplasia, Postaxial polydactyly, Short...	OMIM:617925
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Limitation of joint m...	ORPHA:740
Gaucher Disease, Perinatal Lethal	Hepatosplenomegaly, Akinesia, Splenomegaly, Cardiomegaly, Hepatomegaly, Arthrogryposis multiplex ...	OMIM:608013
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Disproportionate short-limb short stature, Trident pelvis, Short humerus, Bowed humerus, Brachyda...	OMIM:619479
Holt-Oram Syndrome	Short forearm, Radial bowing, Ulnar deviation of thumb, Mitral regurgitation, Mitral valve prolap...	OMIM:142900
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Osteopenia, Expanded metatarsals with widened ...	OMIM:182250
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Arteritis, Abnormal pericardium morphology, Dermal atrophy, Ischemic...	ORPHA:679
Linear Skin Defects With Multiple Congenital Anomalies 3	Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Ventricular fibrill...	OMIM:300952
Ogden Syndrome	Torsade de pointes, Capillary malformation, Ventricular septal defect, Bicuspid aortic valve, Arr...	OMIM:300855
Hallermann-Streiff Syndrome	Small hand, Tracheomalacia, Dermal atrophy, Micrognathia, Short ribs, Proportionate short stature...	ORPHA:2108
Xeroderma Pigmentosum, Complementation Group A	Erythematous papule, Verrucous epidermal nevus, Dermal atrophy, Telangiectasia, Ataxia, Hypermela...	OMIM:278700
Williams-Beuren Syndrome	Osteopenia, Umbilical hernia, Intrauterine growth retardation, Inguinal hernia, Kyphoscoliosis, D...	OMIM:194050
Tooth Agenesis, Selective, 4	Palmoplantar hyperhidrosis, Thin skin	OMIM:150400
Dermatomyositis	Cellulitis, Vasculitis, Chondrocalcinosis, Skin ulcer, Sinus tachycardia, Inflammatory myopathy, ...	ORPHA:221
Multiple Endocrine Neoplasia Type 2	Reduced subcutaneous adipose tissue, Joint hypermobility, Kyphoscoliosis, Proximal amyotrophy, Hy...	ORPHA:653
Xeroderma Pigmentosum Variant	Telangiectasia, Dermal atrophy	ORPHA:90342
Pseudo-Torch Syndrome 3	Cardiomegaly, Hypertension, Cerebral hemorrhage	OMIM:618886
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Abnormality of connective tissue, Transient ischemic attack, Ischemic strok...	ORPHA:91387
Microphthalmia, Syndromic 1	Webbed neck, Joint contracture of the hand, Growth delay, Clinodactyly, Prominent fingertip pads,...	OMIM:309800
Encephalitis Lethargica	Stiff neck, Lethargy, Upper limb muscle weakness, Bradycardia	ORPHA:83600
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia, ...	ORPHA:79280
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulation, Bradycardia...	OMIM:618775
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Palmoplantar keratoderma, Atrophic scars, Milia, Distal lower limb amyotrophy, Scarring, Aplasia ...	ORPHA:79396
Gaucher Disease, Type Iiic	Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati...	OMIM:231005
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal myocardium morphology, Hepatomegaly, Heart block	ORPHA:228308
Double Outlet Left Ventricle	Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Abnormal right ventricular fun...	ORPHA:3427
Isolated Thyroid-Stimulating Hormone Deficiency	Umbilical hernia, Lethargy, Delayed proximal femoral epiphyseal ossification, Bradycardia, Macrog...	ORPHA:90674
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Xfe Progeroid Syndrome	Severe short stature, Dermal atrophy, Corneal scarring, Pes cavus, Absence of subcutaneous fat, E...	OMIM:610965
Truncus Arteriosus	Aplasia/hypoplasia involving bones of the extremities, Aortic regurgitation, Abnormal heart morph...	ORPHA:3384
Mogs-Cdg	Hepatosplenomegaly, Overlapping fingers, Cardiomegaly, Left ventricular hypertrophy, Atrial septa...	ORPHA:79330
Williams Syndrome	Synostosis of joints, Genu valgum, Mitral regurgitation, Mitral valve prolapse, Ventricular septa...	ORPHA:904
Eec Syndrome	Toe syndactyly, Finger syndactyly, Nevus, Ectrodactyly, Abnormal dental enamel morphology, Aplasi...	ORPHA:1896
Neurofibroma	Spinal canal stenosis, Periarticular subcutaneous nodules, Kyphoscoliosis	ORPHA:252183
Poikiloderma With Neutropenia	Palmoplantar keratoderma, Dermal atrophy, Joint stiffness, Micrognathia, Joint hypermobility, Sho...	OMIM:604173
Microphthalmia With Linear Skin Defects Syndrome	Dilated cardiomyopathy, Hypopigmented skin patches, Hypertrophic cardiomyopathy, Dermal atrophy, ...	ORPHA:2556
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Cardiomyopathy, Nevus flammeus, Diastasis recti, Cardiomegaly, Omphalocel...	OMIM:130650
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Tracheomalacia, Inability to walk, Tricuspid regurgitation, Patent foramen ovale, Cardiomegaly, T...	OMIM:620371
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ven...	OMIM:309801
Congenital Disorder Of Glycosylation, Type Iiaa	Bilateral talipes equinovarus, Short long bone, Knee flexion contracture	OMIM:620454
Ring Chromosome 7 Syndrome	Short 5th finger, Slender finger, Small hand, Prominent crus of helix, 3-4 toe syndactyly, Genu v...	ORPHA:1449
Branchiooculofacial Syndrome	Dermal atrophy, Postnatal growth retardation, Micrognathia, Short neck, Postauricular pit, Atypic...	OMIM:113620
Toriello-Lacassie-Droste Syndrome	Aplasia/Hypoplasia of the skin, Growth delay, Brachydactyly, Short palm	ORPHA:3339
Restrictive Dermopathy	Webbed neck, Skin erosion, Osteopenia, Structural foot deformity, Camptodactyly of finger, Dermal...	ORPHA:1662
Aicardi-Goutières Syndrome	Hypertrophic cardiomyopathy, Difficulty walking, Hepatosplenomegaly, Multiple joint contractures,...	ORPHA:51
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Platyspondyly, Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydact...	OMIM:263520
Congenital Tracheomalacia	Tracheomalacia, Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardio...	ORPHA:95430
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Ventricular septal defect, Decreased skull ossificat...	ORPHA:3472
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Foot joint contracture, Atrophic scars, Milia, Mitten deformity, Aplasia cutis congen...	ORPHA:79408
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Skin erosion, Dilated cardiomyopathy, Mitten deformity, Aplasia cu...	ORPHA:79404
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypotension, Lethargy, Pulmonary arterial hypertension, Bradycardia, Hepatomegaly, Tachycardia, C...	OMIM:277400
Sickle Cell Disease	Cardiomegaly, Hepatomegaly, Hypertension, Splenomegaly	OMIM:603903
Paternal Uniparental Disomy Of Chromosome 6	Umbilical hernia, Joint hypermobility, Cardiomegaly, Ventricular septal defect, Hepatomegaly, Mac...	ORPHA:96191
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De...	ORPHA:99125
Beckwith-Wiedemann Syndrome	Visceromegaly, Umbilical hernia, Hypertrophic cardiomyopathy, Melanocytic nevus, Nevus flammeus, ...	ORPHA:116
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Dyskeratosis Congenita, Autosomal Dominant 1	Osteoporosis, Dermal atrophy, Budd-Chiari syndrome, Ataxia	OMIM:127550
Lujo Hemorrhagic Fever	Hypotension, Shock, Stiff neck, Bradycardia, Myocarditis, Subconjunctival hemorrhage	ORPHA:319213
Cutis Laxa, Autosomal Recessive, Type Ib	Tricuspid regurgitation, Congenital diaphragmatic hernia, Inguinal hernia, Hypoplasia of the diap...	OMIM:614437
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Hemothorax, Hemoperi...	ORPHA:99827
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Dermal atrophy, Plantar telangiectasia, Palmar telangiectasia	ORPHA:69735
De Sanctis-Cacchione Syndrome	Severe short stature, Equinovarus deformity, Dermal atrophy, Bilateral coxa valga, Hypermelanotic...	OMIM:278800
Sepsis In Premature Infants	Hypotension, Splenomegaly, Bradycardia, Hepatomegaly, Tachycardia	ORPHA:90051
Xeroderma Pigmentosum, Complementation Group D	Dermal atrophy, Corneal neovascularization, Telangiectasia, Ataxia, Choreoathetosis	OMIM:278730
Acute Radiation Syndrome	Telangiectasia, Dermal atrophy, Hypotension, Skin ulcer	ORPHA:454831
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Short finger, Umbilical hernia, Hand polydactyly, Lethargy, Delayed proximal femoral epiphyseal o...	ORPHA:226307
Pmm2-Cdg	Platyspondyly, Osteopenia, Multiple joint contractures, Kyphoscoliosis, Abnormal subcutaneous fat...	ORPHA:79318
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Pulmonary embolism, Rhabdomyolysis, Arrhythmia, Bradycardia, Ta...	ORPHA:94093
Subacute Cutaneous Lupus Erythematosus	Dermal atrophy, Annular cutaneous lesion, Vasculitis in the skin	ORPHA:163525
D-Glyceric Aciduria	Bradycardia	OMIM:220120
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Bradycardia	OMIM:608800
Scalp-Ear-Nipple Syndrome	Broad thumb, Finger syndactyly, Congestive heart failure, Supraventricular tachycardia, 2-3 toe s...	OMIM:181270
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Cone-shaped epiphysis, Aplasia of the epiglottis, Postaxial polydactyly, Short clavicles, Short r...	OMIM:617088
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia	ORPHA:221098
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Osteomalacia, Left ventricular systolic dysfunction, Hypophosphatemic ri...	ORPHA:51608
Marburg Hemorrhagic Fever	Hypotension, Subconjunctival hemorrhage, Shock, Hypovolemia, Lethargy, Internal hemorrhage, Arthr...	ORPHA:99826
Liver Disease, Severe Congenital	Umbilical hernia, Dilatation of the ventricular cavity, Splenomegaly, Patent foramen ovale, Ventr...	OMIM:619991
Oculoectodermal Syndrome	Preauricular skin tag, Hypertrophic cardiomyopathy, Transient ischemic attack, Epidermal nevus, A...	OMIM:600268
Hypothyroidism, Congenital, Nongoitrous, 2	Macroglossia, Lethargy, Umbilical hernia, Bradycardia	OMIM:218700
Barber-Say Syndrome	Dermal atrophy, Micrognathia, Talipes equinovarus, Lipodystrophy, Brachydactyly, Clinodactyly of ...	OMIM:209885
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Arthritis, Hepatomegaly, Small vessel vasculitis	OMIM:620376
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly	OMIM:618278
Xeroderma Pigmentosum, Variant Type	Dermal atrophy, Growth delay	OMIM:278750
Xeroderma Pigmentosum, Complementation Group E	Telangiectasia, Dermal atrophy	OMIM:278740
Sheehan Syndrome	Palpitations, Orthostatic hypotension, Bradycardia	ORPHA:91355
Barber-Say Syndrome	Aplasia/Hypoplasia of the skin	ORPHA:1231
Xeroderma Pigmentosum, Complementation Group C	Telangiectasia, Dermal atrophy	OMIM:278720
Dyskeratosis Congenita, X-Linked	Short stature, Dermal atrophy, Intrauterine growth retardation, Osteoporosis	OMIM:305000
Kindler Syndrome	Spotty hypopigmentation, Dermal atrophy, Telangiectasia of the skin, Diffuse skin atrophy	OMIM:173650
Yellow Fever	Pancreatic hyperplasia, Shock, Reduced left ventricular ejection fraction, Supraventricular arrhy...	ORPHA:99829
3-Methylglutaconic Aciduria, Type Viii	Bradycardia	OMIM:617248

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for P3h1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to P3h1.

No publications found that use IMPC mice or data for P3h1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
P3h1^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
P3h1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
P3h1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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