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Gene: Marveld3 MGI:1920858

Gene Summary

Name:

MARVEL (membrane-associating) domain containing 3

Synonyms:

Mrvldc3, MARVD3, 1810006A16Rik

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
short tibia	Marveld3^{em1(IMPC)Ccpcz}	HOM	Early adult	7.93×10^-05
abnormal vertebral arch morphology	Marveld3^{em1(IMPC)Ccpcz}	HOM	Early adult	6.20×10^-05
abnormal digit morphology	Marveld3^{em1(IMPC)Ccpcz}	HOM	Early adult	7.95×10^-05
increased kidney weight	Marveld3^{em1(IMPC)Ccpcz}	HOM	Early adult	1.08×10^-05
abnormal heart morphology	Marveld3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged thymus	Marveld3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
rib fusion	Marveld3^{em1(IMPC)Ccpcz}	HOM	Early adult	2.95×10^-06
abnormal spleen morphology	Marveld3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal thymus morphology	Marveld3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
vertebral transformation	Marveld3^{em1(IMPC)Ccpcz}	HOM	Early adult	8.83×10^-06
abnormal rib morphology	Marveld3^{em1(IMPC)Ccpcz}	HOM	Early adult	6.34×10^-06
decreased lean body mass	Marveld3^{em1(IMPC)Ccpcz}	HOM	Early adult	4.25×10^-05
abnormal retina blood vessel morphology	Marveld3^{em1(IMPC)Ccpcz}	HOM	Early adult	3.58×10^-05
enlarged heart	Marveld3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00

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Human diseases caused by Marveld3 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 Marveld3 (0 diseases)
Human diseases predicted to be associated with Marveld3 (587 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Marveld3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Dextrocardia, Rib fusion, Hemivertebrae, Unilateral brachyda...	OMIM:173800
Femoral-Facial Syndrome	Micrognathia, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of the tibia, Cryptorc...	ORPHA:1988
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Rhizomelia, Anterior rib cupping, Splenomegaly, Proximal femoral metaphy...	OMIM:602271
Becker Nevus Syndrome	Supernumerary nipple, Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Lower li...	ORPHA:64755
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Kyphosis, ...	ORPHA:1354
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna...	ORPHA:3268
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect	OMIM:608681
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost...	OMIM:609052
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Coronal cleft vertebrae, Epiphyseal stippling, Short long bone, Short 3rd metacarpal,...	OMIM:118651
Jeune Syndrome	Abnormal clavicle morphology, Abnormality of retinal pigmentation, Toe syndactyly, Renal insuffic...	ORPHA:474
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste...	OMIM:122600
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Hypos...	ORPHA:2311
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim...	ORPHA:174
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Autosomal Dominant Spondylocostal Dysostosis	Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m...	ORPHA:1797
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Single transverse palmar crease, Short neck, Micrognathia, Vertebral segmenta...	OMIM:611209
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Neurogenic bladder, Abnormal odontoid process morphology, Block vertebrae, Dext...	OMIM:613686
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy...	OMIM:612447
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Bent Bone Dysplasia Syndrome 2	Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Hypoplastic a...	OMIM:620076
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Micrognathia, Hypoplasia of the radi...	OMIM:249700
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Long coccyx, Halberd-shaped pelvis, Narrow chest, Flaring...	OMIM:156530
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Cryptorchidism, Obesity, Bell-shaped thorax, Nephro...	OMIM:615633
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor...	ORPHA:1836
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy...	OMIM:613091
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit...	ORPHA:168549
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Cone/cone-rod dystrophy, Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metap...	OMIM:608940
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil...	OMIM:619902
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Kaposiform Lymphangiomatosis	Abnormal femur morphology, Abnormal form of the vertebral bodies, Abnormality of the cervical spi...	ORPHA:464329
Holt-Oram Syndrome	Abnormal clavicle morphology, Triphalangeal thumb, Atrial septal defect, Phocomelia, Atrioventric...	ORPHA:392
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Narrow chest, Hepatic fibrosis, Atri...	OMIM:263520
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of...	OMIM:271650
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Abnormal thorax morphology, Talipes equinovalgus, Hip dislocation, Meso...	OMIM:605274
Ghosal Hematodiaphyseal Dysplasia	Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abnormal femur morphology, Abn...	ORPHA:1802
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pes planus, Short metacarpal, Micromelia, Abnormal rib morphology, Abnormal carpal morphology, Sh...	ORPHA:93351
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Dextrocardia, Micrognathia, Rib fusion, Obesity, Abnormal heart mor...	ORPHA:261197
Meckel Syndrome, Type 8	Short neck, Pericardial effusion, Polydactyly, Talipes equinovarus, Narrow chest, Polycystic kidn...	OMIM:613885
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Micropenis, Dysplas...	OMIM:134780
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Retinal detachment, Short femur, Rhizomelia, Sandal gap, Small for gestational age...	OMIM:607143
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Axial malrotation of the kidney, Genu v...	ORPHA:3320
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res...	OMIM:608022
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Abnormal ...	ORPHA:2635
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn...	OMIM:102510
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Ectopic kidney, Hemive...	OMIM:146510
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Fibular hypopla...	OMIM:201170
Robinow Syndrome, Autosomal Recessive 1	Short neck, Micrognathia, Hemivertebrae, Nephrocalcinosis, Short palm, Thoracic hemivertebrae, Mi...	OMIM:268310
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short neck, Microg...	ORPHA:2756
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Ethanolaminosis	Cardiomegaly	OMIM:227150
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the vertebral bodies, Clavicu...	ORPHA:2790
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Splenomegal...	ORPHA:3035
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ...	OMIM:187760
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Sacral dimple, Large for gestational age, Pectus excavatum, Kyphosis, Micrognathia, Nephroblastom...	OMIM:618272
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Micromelia, Bowing of the le...	OMIM:608728
Juberg-Hayward Syndrome	Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, A...	ORPHA:2319
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum...	OMIM:617405
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Microphthalmia With Limb Anomalies	Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing...	ORPHA:1106
Atelosteogenesis Type Iii	Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi...	ORPHA:56305
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Short neck, Micrognathia, Pectus carinatum, Vertebral segmentation defect, A...	ORPHA:1507
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Pes planus, Short neck, Tapered finger, Hip dislocation, Obesity, Thin ri...	OMIM:618395
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Ventricular septal defect, Rhizomelia, Pr...	ORPHA:93267
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor...	OMIM:615382
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Absent radius, Urethral ...	OMIM:314390
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Mucopolysaccharidosis-Plus Syndrome	Short neck, Metaphyseal widening, Pectus carinatum, Leukopenia, Chorioretinal hypopigmentation, M...	OMIM:617303
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra...	ORPHA:2911
Cog1-Cdg	Irregularity of vertebral bodies, Failure to thrive, Rhizomelia, Kyphoscoliosis, Short neck, Coxa...	ORPHA:263508
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Short neck, Renal hypoplasia/aplasia, Abnormal sacrum morphology, Abno...	ORPHA:2345
Cantu Syndrome	Bicuspid aortic valve, Ovoid vertebral bodies, Broad hallux, Short neck, Cardiomegaly, Pericardia...	OMIM:239850
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Abnormal rib morphology, Abno...	ORPHA:93941
Spondylometaphyseal Dysplasia, A4 Type	Micromelia, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm	ORPHA:168555
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral...	OMIM:223800
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,...	OMIM:602557
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Atrial septal defec...	ORPHA:280
Pseudoachondroplasia	Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmente...	OMIM:177170
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypop...	OMIM:184250
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Situs inversus t...	OMIM:615415
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Thickened aortic valve cusp, Spatulate ribs, Hyperlordosis, Broad clav...	OMIM:619698
Prune Belly Syndrome	Congenital hip dislocation, Vertebral segmentation defect, Vesicoureteral reflux, Atrial septal d...	ORPHA:2970
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, B...	OMIM:213980
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v...	OMIM:602111
Multiple Pterygium Syndrome, Escobar Variant	Short neck, Micrognathia, Talipes calcaneovalgus, Knee flexion contracture, Camptodactyly of toe,...	OMIM:265000
Diastrophic Dysplasia	Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finger, Micromelia, Prox...	ORPHA:628
Slc35A2-Cdg	Failure to thrive in infancy, Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metat...	ORPHA:356961
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs...	OMIM:271520
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Small for gestational age, Micromelia, Short neck, Cardiomegaly, Wide dist...	OMIM:613320
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hand polydactyly, Foot pol...	OMIM:258860
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Peripheral retinal avascularization, Single transverse palmar crease, Short neck, Large for gesta...	ORPHA:96334
Mosaic Trisomy 14	Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short neck, Micrognathia, Cryptorchidi...	ORPHA:1703
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Lateral clavicle hook, Splenomegaly, Postaxial hand poly...	OMIM:615630
Spondylometaphyseal Dysplasia, Kozlowski Type	Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Halberd-shaped pelv...	OMIM:184252
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis...	OMIM:250420
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Hypospadias, Short neck, Pectus excavatum, Hyperlordosis, Kyphosis,...	ORPHA:2522
Robinow Syndrome	Micrognathia, Hemivertebrae, Atrial septal defect, Webbed penis, Micropenis, Fused thoracic verte...	ORPHA:97360
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal thorax morphology, Vacuolated lymphocytes, Abn...	OMIM:269920
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Short neck, Micrognathia, Femoral bowing, Tibial bowing, Knee fl...	OMIM:601559
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Postaxial polydactyly, Short neck, Lateral clavicle hook, Complete atrioventr...	OMIM:617925
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Failure to thrive, Hypoplasia of penis, Camptodactyly of finger, Micrognathia,...	ORPHA:2990
Kbg Syndrome	Vertebral fusion, Syndactyly, Single transverse palmar crease, Short neck, Cryptorchidism, Epispa...	OMIM:148050
Microcephaly-Micromelia Syndrome	Micromelia, Short neck, Missing ribs, Absent thumb, Absent radius, Humeroradial synostosis, Micro...	OMIM:251230
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Multiple rib fractures, Short femur, Ventricular septal defect, Fractured radius, Small for gesta...	OMIM:616897
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,...	OMIM:609945
Melnick-Needles Syndrome	Bowing of the long bones, Coxa valga, Micrognathia, Short thorax, Abnormal rib morphology, Hip di...	ORPHA:2484
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat...	ORPHA:239
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Thickened ribs, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Ovo...	OMIM:252920
Fibrochondrogenesis 2	Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti...	OMIM:614524
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Short neck, Metatarsus valgus, Cryptor...	ORPHA:3082
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preax...	ORPHA:1120
Mucopolysaccharidosis, Type Iva	Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante...	OMIM:253000
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Overlapping fingers, Short neck,...	OMIM:617022
Microphthalmia, Syndromic 3	Vertebral fusion, Optic nerve aplasia, Ventricular septal defect, Anterior pituitary hypoplasia, ...	OMIM:206900
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Spleno...	ORPHA:583
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver...	OMIM:184400
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Hypoplasia of penis, Short neck, Abnormal rib morphology, Hemivertebrae, Abnor...	ORPHA:2234
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxi...	OMIM:616300
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Short femur, Metaphyseal spurs, Unilateral renal agenesis, Undulate ribs, Th...	OMIM:618188
Craniodiaphyseal Dysplasia	Optic atrophy, Abnormal rib morphology, Diaphyseal thickening	ORPHA:1513
Mucolipidosis Ii Alpha/Beta	Cardiomegaly, Micrognathia, Metaphyseal widening, Hepatomegaly, Thoracolumbar kyphoscoliosis, Hyp...	OMIM:252500
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Ovoid vertebral bodies,...	ORPHA:1517
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Renal agenesis, Ectopic kidney, Short neck, Abnormal rib morphology, Vertebral segmentation defec...	ORPHA:2578
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Shwachman-Diamond Syndrome 1	Metaphyseal chondrodysplasia, Metaphyseal widening, Proximal femoral metaphyseal irregularity, Co...	OMIM:260400
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Sh...	ORPHA:958
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Congenital hip dislocation, Left atr...	OMIM:300280
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac...	ORPHA:85167
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell...	OMIM:151210
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Block vertebrae, Missing ribs, Optic dis...	ORPHA:50
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Thoracic dysp...	OMIM:208500
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Rhizomelia, Thorac...	OMIM:618019
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Large for gestational age, Tibial bowing, Spina bifida occulta, Long hallu...	ORPHA:500095
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Thoracolumbar scoliosis, Autoimmune thrombocytopenia, Preaxial hand polydactyly, Renal hypoplasia...	OMIM:601389
Cerebrofaciothoracic Dysplasia	Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S...	ORPHA:1394
Campomelia, Cumming Type	Hepatomegaly, Abnormally ossified vertebrae, Bowing of the long bones, Multicystic kidney dysplas...	ORPHA:1318
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Short neck, Missing ribs, Abnormality of the spleen, Micrognathia, Renal...	ORPHA:1834
Mucopolysaccharidosis Type 4	Bowing of the long bones, Abnormal heart valve morphology, Hyperlordosis, Short neck, Kyphosis, C...	ORPHA:582
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Clinodactyl...	ORPHA:1606
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g...	OMIM:306955
White Forelock With Malformations	Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Atrial septal defect,...	ORPHA:2475
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Holt-Oram Syndrome	Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm...	OMIM:142900
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Coxa vara, Metaphyseal cupping of metacarpals, Thoracic kyphosi...	OMIM:300232
Osteogenesis Imperfecta, Type Ix	Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Short lower ...	OMIM:259440
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, N...	OMIM:612651
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pect...	ORPHA:175
Diaphanospondylodysostosis	Short neck, Missing ribs, Short thorax, Enlarged thorax, Narrow pelvis bone, Multiple renal cysts...	ORPHA:66637
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent fora...	OMIM:228520
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormal localization of kidney, Hip dysplasia...	ORPHA:195
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ...	OMIM:269250
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm...	ORPHA:85445
Spondyloepimetaphyseal Dysplasia, Shohat Type	Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Acrorenal-Mandibular Syndrome	Micrognathia, Hemivertebrae, Aplasia of the bladder, Narrow chest, Hypoplasia of the ulna, Split ...	OMIM:200980
Fucosidosis	Barrel-shaped chest, Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Absent/hypoplast...	OMIM:230000
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Micrognathia, Abnormal form of the vertebral bodies, Atrial sept...	OMIM:194190
Mucolipidosis Iii Gamma	Abnormality of the hand, Hyperlordosis, Short neck, Kyphosis, Flat capital femoral epiphysis, Pec...	OMIM:252605
Greenberg Dysplasia	Micromelia, Beaded ribs, Micrognathia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia ...	OMIM:215140
Gm1-Gangliosidosis, Type I	Hepatomegaly, Thickened ribs, Abnormal heart valve morphology, Short neck, Splenomegaly, Kyphosis...	OMIM:230500
Pontine Tegmental Cap Dysplasia	Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis, Failure to thrive	OMIM:614688
Congenital Toxoplasmosis	Hepatomegaly, Abnormality of retinal pigmentation, Failure to thrive in infancy, Cardiomegaly, Ja...	ORPHA:858
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Short neck, Pectus carinatum, Leukopenia, Thoracic kyphosis, Atrial septal defect, Patent foramen...	ORPHA:505248
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation...	OMIM:208540
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Alagille Syndrome	Hepatomegaly, Hypoplasia of the ulna, Failure to thrive, Ventricular septal defect, Micrognathia,...	ORPHA:52
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no...	OMIM:250220
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin...	OMIM:268305
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Renal hypoplasia/aplasia, ...	ORPHA:3258
Phaver Syndrome	Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Abnormal r...	ORPHA:2876
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ...	ORPHA:2616
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Aicardi Syndrome	Retinal detachment, Block vertebrae, Proximal placement of thumb, Missing ribs, Chorioretinal lac...	OMIM:304050
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c...	OMIM:300863
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Rhizomelia, Cervical kyphosis, Sandal gap, Short nec...	OMIM:108721
Atelosteogenesis, Type I	Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Verteb...	OMIM:108720
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Renal hypoplasia/aplasia, Hand oligodactyly, Fibular hypopl...	ORPHA:1788
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Elbow disl...	OMIM:171480
Acromesomelic Dysplasia 4	Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Lumb...	OMIM:619636
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Obesit...	ORPHA:2180
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr...	OMIM:218600
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Ventricular septal defect, Tarsal synostosis, Muscular ventricular septal defe...	OMIM:157800
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Orofaciodigital Syndrome Ix	Toe syndactyly, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia	OMIM:258865
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Achondrogenesis Type 1B	Micromelia, Short neck, Micrognathia, Short thorax, Abnormal rib morphology, Short foot, Narrow c...	ORPHA:93298
Trisomy 13	Ventricular septal defect, Abnormal retinal vascular morphology, Cryptorchidism, Kyphosis, Postax...	ORPHA:3378
Shox-Related Short Stature	Short neck, Micrognathia, Madelung deformity, Obesity, Genu valgum, Short foot, Tibial bowing, Fo...	ORPHA:314795
Pallister-Hall Syndrome	Large for gestational age, Ectopic kidney, Gonadotropin deficiency, Hemivertebrae, Atrial septal ...	ORPHA:672
Mucopolysaccharidosis, Type Ivb	Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Chondroitin s...	OMIM:253010
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Hypospadias, Abnormal rib morphology, Tetralogy ...	ORPHA:276422
Frontometaphyseal Dysplasia 1	Carpal synostosis, Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Incr...	OMIM:305620
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Tapered toe, Tapered finger, Bilateral cryptorchidism, Large for gestational age, ...	ORPHA:544488
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Thickened ribs, Kyphoscoliosis, Heparan sulfate excretion in urine, Splenomegaly, O...	OMIM:252930
Mitochondrial Complex I Deficiency, Nuclear Type 39	Small for gestational age, Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular ...	OMIM:620135
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Ventricular septal defect, Micromelia, Cryptorchidism, Abnormal rib morpholo...	ORPHA:2772
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Beaded ribs, Thin ribs, Bell-sh...	OMIM:166210
Vacterl/Vater Association	Finger syndactyly, Hypoplasia of penis, Abnormal intervertebral disk morphology, Multicystic kidn...	ORPHA:887
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral b...	OMIM:274000
Zttk Syndrome	Absent gallbladder, Ventricular septal defect, Polyuria, Unilateral renal agenesis, Kyphosis, Rib...	OMIM:617140
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa...	OMIM:300106
Omodysplasia 1	Short humerus, Ventricular septal defect, Rhizomelia, Increased fibular diameter, Short neck, Mic...	OMIM:258315
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and...	ORPHA:90652
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Thickened ribs, Heparan sulfate excretion in urine, Splenomegaly, Ovoid thoracolumb...	OMIM:252900
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Cervical kyphosis, Atrial septal defect, Hypoplastic cervical vertebrae, V...	ORPHA:79345
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Mesomelic/rhizom...	ORPHA:2347
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Hepatomegaly, Ureteral duplication, Renal insufficiency, Tapered toe, Renal dysplasia, ...	OMIM:608836
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Short neck, Bowing of the legs, ...	OMIM:200600
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Pectus carinatum, Tibial bowing, Iron deficiency anemia, Hypoplastic iliac...	ORPHA:93315
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib morphology, A...	ORPHA:2021
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Micrognathia, Ectopic kidney, Abnormal rib morphology,...	OMIM:601076
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Micromelia, Bo...	OMIM:211350
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han...	OMIM:164900
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Ventricular septal defect, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, La...	OMIM:617895
Hurler Syndrome	Abnormal clavicle morphology, Hepatomegaly, Abnormal heart valve morphology, Camptodactyly of fin...	ORPHA:93473
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Lethal Congenital Contracture Syndrome Type 1	Short neck, Micrognathia, Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the...	ORPHA:1486
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Short neck, Cardiomegaly, Micrognathia, Pectus carinatum, Knee dislocation...	OMIM:245600
Ellis-Van Creveld Syndrome	Hypospadias, Cryptorchidism, Capitate-hamate fusion, Postaxial hand polydactyly, Cone-shaped epip...	OMIM:225500
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Hepatomegaly, Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of th...	ORPHA:73230
Kagami-Ogata Syndrome	Hepatomegaly, Long clavicles, Ventricular septal defect, Kyphoscoliosis, Coxa valga, Micrognathia...	OMIM:608149
Hypophosphatasia	Bowing of the long bones, Failure to thrive in infancy, Abnormal rib morphology, Narrow chest, Ab...	ORPHA:436
Microcephalic Primordial Dwarfism, Toriello Type	Brachydactyly, Abnormal rib morphology, Abnormal epiphysis morphology, Neutropenia	ORPHA:2643
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Split hand, Short long bo...	OMIM:252600
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Eunuchoid habitus, Small hypothenar eminence, Arachnodactyly, Cardiomegaly, Pectus excavatum, The...	ORPHA:2463
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,...	ORPHA:730
Hemihyperplasia-Multiple Lipomatosis Syndrome	Macrodactyly, 2-4 toe syndactyly, Abnormality of the lymphatic system, Hydrocele testis, Foot pol...	ORPHA:276280
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Pectus exca...	OMIM:618150
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Micromelia, Short neck, Postaxial hand polydactyly, Hepatic fi...	OMIM:200995
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Kyphoscoliosis, Cardiomegaly	OMIM:300886
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Abnormality of the cervical spine	OMIM:307500
Attrv30M Amyloidosis	Vitreous floaters, Cardiomegaly, Weight loss, Cardiomyopathy, Nephropathy, Abnormal renal physiology	ORPHA:85447
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Micromelia, Short neck, Micrognathia, Renal hypopla...	ORPHA:3015
Simpson-Golabi-Behmel Syndrome, Type 1	Renal cyst, Pectus carinatum, Vertebral segmentation defect, Narrow greater sciatic notch, Short ...	OMIM:312870
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Arachnodactyly, Long palm, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of...	ORPHA:2759
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Cardiomegaly, Glandular hypospadias, Talipes equinovarus, Short tibia	OMIM:620306
Osteogenesis Imperfecta, Type X	Multiple rib fractures, Thoracic scoliosis, Short femur, Rhizomelia, Bowing of the long bones, Mi...	OMIM:613848
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral e...	OMIM:271640
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Abnormality of the urethra, Abnormality of the upper...	ORPHA:2145
Achondrogenesis Type 1A	Multiple rib fractures, Micromelia, Short neck, Micrognathia, Short thorax, Short foot, Narrow ch...	ORPHA:93299
Cooper-Jabs Syndrome	Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Ab...	ORPHA:1488
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Posterior rib fusion, Atri...	OMIM:265380
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of th...	ORPHA:163966
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathia, Rhizomeli...	OMIM:616229
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Myocarditis, Metaphyseal ch...	ORPHA:93317
Dysosteosclerosis	Micrognathia, Increased intervertebral space, Absent frontal sinuses, Hypoplastic vertebral bodie...	OMIM:224300
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Congenital Myopathy 8	Scoliosis, Cardiomegaly	OMIM:618654
Kniest Dysplasia	Hip contracture, Retinal detachment, Rhizomelia, Dumbbell-shaped long bone, Short neck, Pectus ex...	OMIM:156550
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Palmoplantar keratoderma, Cardiomegaly	OMIM:613576
Grant Syndrome	Bowing of the long bones, Micrognathia, Abnormal rib morphology, Abnormal pelvic girdle bone morp...	ORPHA:2097
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Pancreatic fibrosis, Ventricular septal defect, Postaxial polydactyly, Lateral clavic...	OMIM:615503
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu...	OMIM:187600
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Pectus carinatum, Narrow greater sciatic notch, Anterior beaking of l...	OMIM:253220
Short-Rib Thoracic Dysplasia 12	Short neck, Bowing of the legs, Thoracic dysplasia, Narrow chest, Short palm, Patent foramen oval...	OMIM:269860
Dextrocardia	Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abno...	ORPHA:1666
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Postaxial hand polydactyly, Abno...	ORPHA:2519
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Ectopic kidney, Clinodactyly of the 5th finger, Atrial septal defect, Pate...	OMIM:607872
Otospondylomegaepiphyseal Dysplasia	Short neck, Micrognathia, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone morph...	ORPHA:1427
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Renal hypoplasia/aplasia, Abnormal me...	ORPHA:2167
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n...	OMIM:206920
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Craniodiaphyseal Dysplasia, Autosomal Dominant	Papilledema, Thickened ribs, Optic atrophy, Diaphyseal sclerosis	OMIM:122860
Cartilage-Hair Hypoplasia	Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Short palm, Neutropenia, Lumbar hy...	OMIM:250250
Mulibrey Nanism	Hepatomegaly, Single transverse palmar crease, Cardiomegaly, Absent frontal sinuses, Hypoplastic ...	OMIM:253250
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,...	OMIM:112350
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormality of the kidney, Unilateral renal agenesis, Short neck, Abnormal rib morphology, Scolio...	OMIM:118100
Occipital Horn Syndrome	Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short palm, Large iliac wing, Abnormali...	ORPHA:198
Three M Syndrome 2	Scapular winging, Lumbar hyperlordosis, Small for gestational age, Short neck, Hyperlordosis, Sho...	OMIM:612921
Mosaic Trisomy 9	Hypoplasia of penis, Micromelia, Short neck, Asplenia, Micrognathia, Hemivertebrae, Finger clinod...	ORPHA:99776
Becker Nevus Syndrome	Pectus excavatum, Hemivertebrae, Cervical ribs, Scoliosis, Unilateral breast hypoplasia	OMIM:604919
Steinfeld Syndrome	Absent gallbladder, Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypopl...	OMIM:184705
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Micromelia, Short neck, Lateral clavicle hook, ...	ORPHA:3144
Acromelic Frontonasal Dysostosis	Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cryptorchidism, Prea...	OMIM:603671
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Short neck, Bowing of the legs, Micrognathia, Pectus carinatum, Abnormal calcificatio...	OMIM:271665
Septopreoptic Holoprosencephaly	Anterior hypopituitarism, Abnormal rib morphology, Abnormal vertebral morphology	ORPHA:280195
Alg9-Cdg	Short neck, Micrognathia, Right ventricular dilatation, Abnormal left ventricular outflow tract m...	ORPHA:79328
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlarg...	OMIM:241530
Pentalogy Of Cantrell	Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Talipes, Hypospad...	ORPHA:1335
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Genu recurvatum, Short neck, Tibial bowing, Irregular vertebral endplates, Shoulder dislocation, ...	OMIM:143095
Basal Cell Nevus Syndrome 1	Palmar pits, Plantar pits, Hemivertebrae, Cardiac fibroma, Abnormal sternum morphology, Vertebral...	OMIM:109400
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Femoral bowin...	OMIM:276820
Cardiac-Urogenital Syndrome	Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hypos...	OMIM:618280
Mosaic Trisomy 8	Camptodactyly of finger, Short neck, Micrognathia, Cryptorchidism, Patellar aplasia, Abnormal rib...	ORPHA:96061
Gracile Bone Dysplasia	Asplenia, Flared metaphysis, Thin ribs, Micropenis, Slender long bone, Hypoplastic spleen, Failur...	OMIM:602361
Cousin Syndrome	Short neck, Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th...	OMIM:260660
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Short neck, Vertebral segm...	ORPHA:373
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology	ORPHA:1506
Renpenning Syndrome	Hypospadias, Cachexia, Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clin...	ORPHA:3242
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ...	ORPHA:93324
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Refsum Disease, Classic	Short fourth metatarsal, Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Rod-cone dystro...	OMIM:266500
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy...	OMIM:600002
Congenital Pseudoarthrosis Of The Clavicle	Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Cervical ribs, Dextrocardia	ORPHA:66630
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlargement of the costochondra...	OMIM:600081
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, Anterior wedging of L...	OMIM:253200
Seckel Syndrome 1	11 pairs of ribs, Ivory epiphyses, Pancytopenia, Pes planus, Sandal gap, Single transverse palmar...	OMIM:210600
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Pineal cyst, Enuresis nocturna, Short 4th ...	OMIM:615873
Omodysplasia 2	Short humerus, Hypospadias, Micrognathia, Cryptorchidism, Short 1st metacarpal, Fibular hypoplasi...	OMIM:164745
Cleidocranial Dysplasia	Hypoplastic scapulae, Down-sloping shoulders, Tapered finger, Abnormal thumb morphology, Microgna...	ORPHA:1452
Kenny-Caffey Syndrome, Type 1	Long clavicles, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bone, Short palm,...	OMIM:244460
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Limited elbow movement, Spinal rigidit...	ORPHA:268
Opsismodysplasia	Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor...	OMIM:258480
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Elevated circulating...	OMIM:609441
Vater/Vacterl Association	Ectopic kidney, Preaxial polydactyly, Abnormal sternum morphology, Triphalangeal thumb, Patent ur...	OMIM:192350
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ...	ORPHA:140
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Pectus c...	OMIM:224690
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal bone resorption, ...	OMIM:264700
Gm1 Gangliosidosis Type 1	Spatulate ribs, Cherry red spot of the macula, Hepatosplenomegaly, Hypoplastic vertebral bodies, ...	ORPHA:79255
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr...	ORPHA:1145
Trisomy 1Q	Microretrognathia, Multicystic kidney dysplasia, Toe syndactyly, Ventricular septal defect, Arach...	ORPHA:261344
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Leukocytosis, Sp...	OMIM:603903
Achondrogenesis, Type Ii	Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, S...	OMIM:200610
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Micrognathia	OMIM:602196
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Obesity, Abnormal retinal morphology on ma...	ORPHA:251004
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Narr...	OMIM:600920
Campomelic Dysplasia	Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal o...	OMIM:114290
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hepatocellular carcinoma, Decreased glomerular fi...	OMIM:232220
Xylt1-Cdg	Hepatomegaly, Pes planus, Coxa valga, Flared metaphysis, Truncal obesity, Short long bone, Short ...	ORPHA:370930
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Septo-optic dysplasia, Multicystic kidney dysplasia, Missing ribs,...	ORPHA:3301
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Adrenal hyperplasia, Femoral bowing, Abnormal ovarian morphology, Narrow chest, Vesicoureteral re...	ORPHA:95699
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Abnormal cervical curvature, Micrognathia, Thin ribs, Hypoplastic heart, Short ...	OMIM:312150
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Failure to thrive, Cardiomegaly	OMIM:614096
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Single transvers...	OMIM:227270
Cole-Carpenter Syndrome	Crumpled long bones, Bowing of the long bones, Micrognathia, Kyphosis, Abnormal rib morphology, A...	ORPHA:2050
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity, Cardiomegaly	ORPHA:88643
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo...	OMIM:608978
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Lumbar hyperlordosis, Arachnodactyly, Failure to thrive in infancy, Kyphoscol...	ORPHA:500150
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Micrognathia, Kyphosis, Tibial bowing, Thin ribs, Slender long bone, Scolios...	OMIM:259420
Attrv122I Amyloidosis	Cardiomegaly, Spinal canal stenosis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ven...	ORPHA:85451
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyly of the 5th finger, R...	OMIM:210720
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Kyphoscoliosis, Cardiomegaly, Abnormal thumb morphology, Abnormal atrioventricular valve morpholo...	ORPHA:324410
Lymphoid Interstitial Pneumonia	Hepatomegaly, Mediastinal lymphadenopathy, Clubbing, Weight loss, Failure to thrive, Enlarged kidney	ORPHA:79128
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ...	ORPHA:90301
Alagille Syndrome 1	Multiple small medullary renal cysts, Hemivertebrae, Vesicoureteral reflux, Atrial septal defect,...	OMIM:118450
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Lymphopenia, Prominent floating ribs, Pedal edema	OMIM:152800
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Abnormal cervical curvature, Micrognathia, Thin ribs, Hypoplastic heart, Short ...	OMIM:253290
Osteogenesis Imperfecta	Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology...	ORPHA:666
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Micrognathia, Horizontal ribs, Cryptorchidism, Methylmalonic aciduria, Bell-shaped thorax, Normoc...	OMIM:614857
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Short fourth metatarsal, Brachydactyly, Single transverse palmar crease, Cardiomega...	OMIM:618143
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Triphalangeal thumb, Chorioretinal coloboma, Clinodactyly of...	ORPHA:857
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Micrognathia, Thin ribs, Slender long bone, Decreased body weight, Vesicoureteral reflux, Hydrone...	OMIM:618265
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Pedal edema, Bacteria...	ORPHA:615
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Short tubular bones of the hand, Coxa valga, Micrognathia, Abnormal foot morphology, Vertebral ar...	ORPHA:85184
Myhre Syndrome	Short neck, Hypoplastic iliac wing, Atrial septal defect, Broad ribs, Vertebral fusion, Pericardi...	OMIM:139210
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Single transverse palmar crease, Short neck, Tibial bowing, Hypo...	OMIM:269150
H Syndrome	Hallux valgus, Pes planus, Abnormality of the kidney, Microcytic anemia, Hepatosplenomegaly, Lymp...	ORPHA:168569
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Hypoplasia of penis, Hyperlordosis, Abnormal rib morphology, Pectus carinatum, Abnormal hip bone ...	ORPHA:3068
Melnick-Needles Syndrome	Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, Narrow chest, Ureteral ste...	OMIM:309350
Osteofibrous Dysplasia, Susceptibility To	Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Thin ribs, ...	OMIM:610915
Osteogenesis Imperfecta, Type Xviii	Bowing of the long bones, Micrognathia, Femoral bowing, Thin ribs, Biconcave vertebral bodies, Ve...	OMIM:617952
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Short neck, Cardiomegaly, Secundum atrial sept...	OMIM:300855
Tyrosinemia, Type I	Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Nephrocalcinosis, Renal Fanconi syndrome...	OMIM:276700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,...	OMIM:102700
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Hypospadias, Micrognathia, Complete atrioventricular...	OMIM:236680
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Igg4-Related Kidney Disease	Lymphadenitis, Renal interstitial immunoglobulin deposits, Pedal edema, Sterile pyuria, Tubuloint...	ORPHA:449395
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
X-Linked Hypophosphatemia	Shortening of the talar neck, Bowing of the long bones, Beaded ribs, Bowing of the legs, Enlargem...	ORPHA:89936
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Cardiomegaly, Pericardial effusion, Optic atrophy, Hypertrophic cardio...	OMIM:614702
Schwartz-Jampel Syndrome	Micromelia, Short neck, Micrognathia, Coxa vara, Pectus carinatum, Wrist flexion contracture, Abn...	ORPHA:800
Charge Syndrome	Decreased response to growth hormone stimulation test, Abnormal palmar dermatoglyphics, Micrognat...	OMIM:214800
Mogs-Cdg	Hepatomegaly, Thoracic scoliosis, Cardiomegaly, Optic atrophy, Hepatosplenomegaly, Hydrocele test...	ORPHA:79330
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Short neck, Micrognathia, Short metatarsal, Femoral bowing, Tibial bo...	OMIM:304120
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepat...	ORPHA:731
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Scoliosis, Thin ribs	OMIM:615220
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Microvesicular hepatic steatosis, Cardiomyopat...	OMIM:212140
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Aplasia of the epi...	OMIM:617088
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Splenomegaly, Fused cervical vertebrae,...	OMIM:612852
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Pectus exc...	ORPHA:2215
Alpha-N-Acetylgalactosaminidase Deficiency	Oligosacchariduria, Scoliosis, Cardiomegaly	ORPHA:3137
Monosomy 9Q22.3	Ovarian fibroma, Short neck, Pectus excavatum, Kyphosis, Palmar pits, Large for gestational age, ...	ORPHA:77301
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Cardiomegaly, Adenoiditis, Abnormal form of the vertebral bodies, R...	ORPHA:581
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Abnormality of the palmar crea...	OMIM:618652
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Talipes, Abnormal renal morphology, Abnormal rib morphol...	ORPHA:83
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Cerebrocostomandibular Syndrome	Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ...	OMIM:117650
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Retinal cotton wool spot, Proteinuria, Nodular regenerative hyperplasia of liv...	ORPHA:247691
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Bowing of the legs, Spinal canal stenosis, Trapezoidal distal femor...	OMIM:307800
Shprintzen-Goldberg Craniosynostosis Syndrome	Pes planus, Arachnodactyly, Genu recurvatum, Micrognathia, Lateral clavicle hook, Pectus excavatu...	OMIM:182212
Sclerosteosis 1	Syndactyly, Papilledema, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Optic atroph...	OMIM:269500
Mucopolysaccharidosis, Type Iiid	Hepatomegaly, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Epiphyseal dysplasia, Short ne...	OMIM:252940
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocy...	OMIM:618886
8P11.2 Deletion Syndrome	Hemolytic anemia, Sacral dimple, Hypoplasia of penis, Retinal dystrophy, Micrognathia, Splenomega...	ORPHA:251066
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Abnormal f...	ORPHA:2769
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cirrhosis, Hepatocellular carcinoma, Te...	OMIM:235200
Aspergillosis	Eosinophilia, Abnormality of the kidney, Abnormal rib morphology, Hepatitis, Vitritis, Abnormal l...	ORPHA:1163
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Ulbright-Hodes Syndrome	Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, Phocomelia, Abnormal penis morphology, S...	ORPHA:3404
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Talipes, Missing ribs, Aplasia/Hypoplasia of the d...	ORPHA:1647
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Failure to thrive in infancy, Cardiomegaly	OMIM:619064
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, Nephrolithiasis, Focal segmental...	OMIM:232200
Fucosidosis	Hepatomegaly, Cardiomegaly, Kyphosis, Abnormality of the gallbladder, Mucopolysacchariduria, Ante...	ORPHA:349
Craniometadiaphyseal Dysplasia	Broad long bones, Coxa valga, Flared metaphysis, Genu valgum, Broad ribs, Absent paranasal sinuse...	OMIM:269300
Cranioectodermal Dysplasia 1	Bicuspid aortic valve, Single transverse palmar crease, Tubulointerstitial nephritis, Hepatic fib...	OMIM:218330
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Hypocalcemic Vitamin D-Dependent Rickets	Enlargement of the ankles, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, En...	ORPHA:289157
Dent Disease 1	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino...	OMIM:300009
Proteus-Like Syndrome	Retinal detachment, Thymus hyperplasia, Genu recurvatum, Lower limb asymmetry, Splenomegaly, Abno...	ORPHA:2969
Myhre Syndrome	Abnormal penis morphology, Brachydactyly, Hypospadias, Cryptorchidism, Epispadias, Abnormal rib m...	ORPHA:2588
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm...	ORPHA:249
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Short neck, Micrognathia, Abnormal form of the ...	ORPHA:818
Proteus Syndrome	Neoplasm of the thymus, Abnormal finger morphology, Abnormal form of the vertebral bodies, Renal ...	ORPHA:744
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Small for gestational age, Ventricular septal defect, Large for gestational age, Abnormal heart m...	ORPHA:254534
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Ventricular septal defect, Spinal canal stenosis, Broad palm, Pulmonic sten...	OMIM:277600
Fibular Dimelia-Diplopodia Syndrome	Absent tibia, Sacrococcygeal teratoma	ORPHA:1757
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Cholangiocarcinoma, Portal hypertens...	ORPHA:465508
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Single transverse palmar crease, Proximal placem...	OMIM:229850
Vertebral Hypersegmentation And Orofacial Anomalies	Pes planus, Scapular winging, Supernumerary nipple, Micrognathia, Pectus excavatum, Supernumerary...	OMIM:619122
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Failu...	ORPHA:99931
Occipital Horn Syndrome	Short humerus, Pes planus, Pelvic bone exostoses, Broad clavicles, Pectus excavatum, Kyphosis, Ca...	OMIM:304150
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Vesicoureteral reflux, Renal ...	OMIM:130650
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Renal insufficiency, Bowing of the legs, Delayed ep...	OMIM:300554
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Osteopathia Striata With Cranial Sclerosis	Micrognathia, Osteopathia striata, Atrial septal defect, Clinodactyly of the 5th finger, Broad ri...	OMIM:300373
Congenital Myopathy 22B, Severe Fetal	Hepatomegaly, Scapular winging, Thoracic scoliosis, Hip contracture, Shoulder flexion contracture...	OMIM:620369
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Cryptorchidism, Split hand, Abnormal rib morphol...	ORPHA:1300
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cardiomegaly, Large for gestational age, Vesicoureteral reflux, Nephropathy...	ORPHA:116
Cranioectodermal Dysplasia 2	Cholangitis, Short neck, Micrognathia, Renal cyst, Narrow chest, Atrial septal defect, Patent for...	OMIM:613610
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Elbow dislocation, Aplasia/Hypoplasi...	ORPHA:1112
Hsd10 Disease, Infantile Type	Cardiomegaly, Optic atrophy, Abnormality of the lower urinary tract, Abnormal concentration of ac...	ORPHA:391428
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Cutaneous syndactyly, Tetralogy of Fallot, Patent forame...	OMIM:601005
Camptodactyly Syndrome, Guadalajara Type 3	Short neck, Abnormal rib morphology, Small hand, Short foot, Micropenis, Spina bifida occulta, Th...	ORPHA:488434
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Syndactyly, Failure to thrive, Hypospadias, Anterior pit...	OMIM:151050
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Cardiomegaly	OMIM:600649
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Short neck, Proximal placement of thumb, Micrognathi...	OMIM:122470
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoids, A...	ORPHA:217085
Pyknoachondrogenesis	Micromelia, Short iliac bones, Hypoplastic ischia, Short thorax, Abnormal iliac wing morphology, ...	ORPHA:3003
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Pes planus, Hyperlordosis, Tapered finger, Limited elbow extension, Hip dislocation...	OMIM:301066
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoids, A...	ORPHA:217093
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Ventricular septal defect, Optic neuropathy, Increased intervertebral spac...	OMIM:619727
Osteoporosis-Pseudoglioma Syndrome	Barrel-shaped chest, Ventricular septal defect, Kyphoscoliosis, Kyphosis, Metaphyseal widening, T...	OMIM:259770
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Clubbing, Pedal edema, Atrial septal defect, Pa...	ORPHA:439
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Failure to thrive, Micrognathia, Hyperextensibility of the knee, Hypermyelinated r...	OMIM:601812
Kinsship Syndrome	Pes planus, Sacral dimple, Single transverse palmar crease, Short neck, Coxa valga, Micrognathia,...	OMIM:619297
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cachexia, Cardiomega...	ORPHA:42
Trisomy 18	Microretrognathia, Abnormality of retinal pigmentation, Ventricular septal defect, Camptodactyly ...	ORPHA:3380
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Hypoplasia of penis, Talipes, Micromelia, Short neck, Ap...	ORPHA:2879
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Proteinuria, Chronic neutropenia, Hepatocellular adenoma, Enlarged kidney, Polycyst...	ORPHA:79259
Lethal Acantholytic Erosive Disorder	Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cardiomyopathy, Clinodactyly of the 5...	ORPHA:158687
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Thoracic hypoplasia, Cardiomegaly, Micrognathia, Thrombocytopenia, Splenomegaly, He...	OMIM:608013
Weill-Marchesani Syndrome 2	Short metacarpal, Lumbar hyperlordosis, Ventricular septal defect, Short metatarsal, Spinal canal...	OMIM:608328
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Cryptorchidism, Glandular hypospadias, Thin ribs, Micropenis, Penile hypospadias, Penoscrotal hyp...	ORPHA:456328
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Anis...	OMIM:618278
Bohring-Opitz Syndrome	Retinal atrophy, Ulnar deviation of the wrist, Nephroblastoma, Cardiomegaly, Pectus excavatum, Mi...	ORPHA:97297
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Anterior rib cupping, Exocrine pancreatic insufficiency, Metaphy...	OMIM:617941
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ...	ORPHA:555874
Cole-Carpenter Syndrome 2	Microretrognathia, Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, Narrow iliac wing	OMIM:616294
Pagod Syndrome	Abnormal clavicle morphology, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Situs inver...	ORPHA:991
Osteogenesis Imperfecta, Type Vii	Multiple rib fractures, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Micromelia, Bowing ...	OMIM:610682
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Urinary incontinence, Large for gestational age, Cryptor...	ORPHA:169189
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Bowing of the long bones, Abnormal pulmonary valve morphology, Splenomegaly, Abnorm...	ORPHA:667
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Overlapping toe, Single transverse palmar crease, Pectus excavatum, Prominent sternum, ...	ORPHA:254528
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced myoglobinuria, Hepatocellular...	OMIM:201475
Osteopetrosis, Autosomal Recessive 7	Multiple rib fractures, Hepatomegaly, Femur fracture, Splenomegaly, Optic atrophy, Optic nerve co...	OMIM:612301
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Mitral valve calcification, Sandal gap, Elevated hemoglobin A1c, Proteinuria, Decre...	OMIM:619127
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Short neck, Micrognathia, Renal cyst, Tibial bowing, Hepatoblastoma...	ORPHA:798
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Nephroblastoma, Stage 5 chronic kidney disease, Nephrotic syndrome, ...	OMIM:194080
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Pseudo-Torch Syndrome 2	Hepatomegaly, Secundum atrial septal defect, Thin ribs, Abnormal renal corticomedullary different...	OMIM:617397
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Renal tubular acidosis, Hepatic steatosis	OMIM:255120
Constricting Bands, Congenital	Syndactyly, Abnormal rib cage morphology, Hand polydactyly, Talipes equinovarus, Scoliosis, Ectop...	OMIM:217100
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Long clavicles, Single transverse palm...	ORPHA:83617
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Arachnodactyly, Talipes equinovarus, Micrognathia	OMIM:619036
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Osteopetrosis With Renal Tubular Acidosis	Micrognathia, Leukopenia, Hepatomegaly, Retinal atrophy, Secondary hyperparathyroidism, Distal re...	ORPHA:2785
Isolated Anencephaly	Thymus hyperplasia	ORPHA:563609
Sandhoff Disease	Hepatomegaly, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Cherry red spot of the macula	OMIM:268800
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Pedal edema, Abnormal heart morphology, Right ventricular di...	ORPHA:2041
Acromelic Frontonasal Dysplasia	Anterior pituitary hypoplasia, Cryptorchidism, Patellar hypoplasia, Talipes equinovarus, Preaxial...	ORPHA:1827
Coccidioidomycosis	Pericarditis, Renal insufficiency, Eosinophilia, Abnormal retinal morphology, Abnormality of the ...	ORPHA:228123
Abetalipoproteinemia	Reticulocytosis, Hepatomegaly, Abnormality of retinal pigmentation, Hypopigmentation of the fundu...	ORPHA:14
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Hepatic ...	ORPHA:228308
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Pes planus, Ventricular septal defect, Left ventricular noncompaction cardiomyopat...	OMIM:300967
Leprechaunism	Hepatomegaly, Enlarged ovaries, Long foot, Long penis, Hypercalciuria, Nephrocalcinosis, Large ha...	ORPHA:508
Severe Congenital Nemaline Myopathy	Hypospadias, Abnormal thorax morphology, Thin ribs, Micropenis, Adducted thumb	ORPHA:171430
Beck-Fahrner Syndrome	Pes planus, Hip dysplasia, Ventricular septal defect, Cardiomegaly	OMIM:618798
Alpha-Mannosidosis, Infantile Form	Optic disc pallor, Pancytopenia, Thickened ribs, Recurrent urinary tract infections, Short neck, ...	ORPHA:309282
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Micrognathia, Abnormal form of the vert...	ORPHA:904
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Left atrial enlargement, Limited elbow movement, Micrognathia, Thin ribs, Rib ...	OMIM:614008
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Aplastic clavicle, Micrognathia, Elbow...	ORPHA:2554
Myotubular Myopathy With Abnormal Genital Development	Unilateral cryptorchidism, Hypospadias, Bilateral cryptorchidism, Glandular hypospadias, Thin rib...	OMIM:300219
Generalized Arterial Calcification Of Infancy	Choroidal neovascularization, Cardiomegaly, Abnormal retinal artery morphology, Abnormal calcific...	ORPHA:51608
Charge Syndrome	Talipes, Cryptorchidism, Abnormal tibia morphology, Abnormal rib morphology, Hemivertebrae, Bifid...	ORPHA:138
Kagami-Ogata Syndrome	Kyphoscoliosis, Short neck, Coxa valga, Large for gestational age, Micrognathia, Bell-shaped thor...	ORPHA:254519
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Micrognathia, Intrahepatic cholestasis, Di...	OMIM:614921
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy, Left ventricular hypertrophy	OMIM:617713
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Micrognathia, Kyphosis, Posterior rib ga...	ORPHA:1393
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Chorioretinal dysplasia, Micrognathia, Oligosacchariduria, Nephrocalcinosis,...	ORPHA:534
Tibial Hemimelia	Absent tibia	OMIM:275220
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Retinal detachment, Pes planus, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, ...	OMIM:225400
Hallermann-Streiff Syndrome	Small for gestational age, Abnormality of the hand, Hyperlordosis, Pectus excavatum, Cryptorchidi...	OMIM:234100
Monosomy 9P	Hypospadias, Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Cryptorchi...	ORPHA:261112
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Decreased body weight, Optic nerve hypoplasia, Thin ribs	OMIM:614833
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Pes planus, Arachnodactyly, Bicuspid aortic valve, Cardiomegaly, Abnormal sternum morphology, Sco...	ORPHA:91387
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Optic atrophy, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glyco...	OMIM:619259
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Hepatomegaly, Failure to thrive, Hypoplastic scapulae, Parotitis, Camptodactyly of...	OMIM:256040
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Singleton-Merten Syndrome 1	Pes cavus, Mitral valve calcification, Hypoplastic distal radial epiphyses, Decreased body weight...	OMIM:182250
Lethal Congenital Contracture Syndrome 5	Small for gestational age, Retinal hemorrhage, Thin ribs	OMIM:615368
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Right atrial enlargement, Cardiomegaly	OMIM:614473
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert...	ORPHA:57777
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Amyloid deposition in the vitreous humor, Urinary incontinence, Cardiomegaly	OMIM:105210
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Double Outlet Left Ventricle	Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor...	ORPHA:3427
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Kindler Epidermolysis Bullosa	Urethral stricture, Finger syndactyly, Camptodactyly of finger, Phimosis, Abnormal rib morphology...	ORPHA:2908
Orofaciodigital Syndrome Type 4	Decreased testicular size, Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Mi...	ORPHA:2753
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Abnormal preputium morphology, Abnormality of the ure...	ORPHA:2907
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Decreased response to growth hormone stimulation test, Hypospadias, Mi...	ORPHA:444077
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio...	ORPHA:308552
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Micrognathia, Leukopenia, Aminoaciduria, Lymphocytosis, Elevat...	OMIM:619991
Fetal Akinesia Deformation Sequence 1	Hip contracture, Ulnar deviation of the hand, Small for gestational age, Rocker bottom foot, Camp...	OMIM:208150
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Wiedemann-Rautenstrauch Syndrome	Short neck, Secundum atrial septal defect, Micrognathia, Hypoplasia of the thymus, Narrow chest, ...	OMIM:264090
Glycogen Storage Disease Ii	Hepatomegaly, Splenomegaly, Urinary incontinence, Cardiomegaly	OMIM:232300
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization, Micrognathia	OMIM:619074
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Optic atrophy, Renal cyst, Polycystic ovar...	ORPHA:137675
Restrictive Dermopathy	Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Ureteral duplication, Hypospadias, ...	ORPHA:1662
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Cardiomegaly, Hyperlordosis, Oligosacchariduria, Scoliosis, Left ventricular hypert...	ORPHA:365
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic leukemia, Hepatosplenomegal...	ORPHA:51
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly	OMIM:208000
Congenital Tracheomalacia	Failure to thrive, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous re...	ORPHA:95430
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega...	ORPHA:75565
Absence Of The Pulmonary Artery	Cardiomegaly, Pedal edema, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial ...	ORPHA:980
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Micrognathia, Cardiomegaly, Cryptorchidism	ORPHA:96191
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature...	ORPHA:1677
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280

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 Marveld3

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 Marveld3.

No publications found that use IMPC mice or data for Marveld3.

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MGI Allele	Allele Type	Produced
Marveld3^{tm45743(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Marveld3^{em1(IMPC)Ccpcz}	Exon Deletion	Mice

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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Gene: Marveld3 MGI:1920858

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Human diseases caused by Marveld3 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data