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Gene: Ppp5c MGI:102666

Gene Summary

Name:

protein phosphatase 5, catalytic subunit

Synonyms:

ANP receptor, PP5

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No 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
vertebral fusion	Ppp5c^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	6.98×10^-06
increased rib number	Ppp5c^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.09×10^-07
increased lean body mass	Ppp5c^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.84×10^-06
decreased circulating glucose level	Ppp5c^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	8.76×10^-08
abnormal rib morphology	Ppp5c^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.31×10^-08
increased thoracic vertebrae number	Ppp5c^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.85×10^-06
increased lumbar vertebrae number	Ppp5c^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.18×10^-06
increased total body fat amount	Ppp5c^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.64×10^-07
abnormal coat/hair pigmentation	Ppp5c^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.28×10^-06
decreased circulating triglyceride level	Ppp5c^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.15×10^-11
decreased body length	Ppp5c^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	9.28×10^-10

Download data as: TSV XLS

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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	Not available
Blood vessel	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	50% (1 of 2)
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	50% (1 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	50% (1 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	Not available
Ovary	N/A	heterozygote	50% (1 of 2)
Oviduct	N/A	heterozygote	50% (1 of 2)
Pancreas	N/A	heterozygote	50% (1 of 2)
Parathyroid gland	N/A	heterozygote	50% (1 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle tissue	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	50% (1 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	Not available
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	50% (1 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	50% (1 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

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 vessel
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
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%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
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.

Histopathology

Images

20 Images

View images

Legacy Phenotype Associated Images

Ppp5c^{tm1a(EUCOMM)Wtsi}
body, HOM, Male, WTSI

Ppp5c^{tm1a(EUCOMM)Wtsi}
head, HOM, Male, WTSI

Ppp5c^{tm1a(EUCOMM)Wtsi}
head, HOM, Female, WTSI

Ppp5c^{tm1a(EUCOMM)Wtsi}
forearm, HOM, Female, WTSI

Ppp5c^{tm1a(EUCOMM)Wtsi}
body, HOM, Female, WTSI

View all 155 images

Ppp5c^{tm1a(EUCOMM)Wtsi}
eye, abnormal pupil morphology, mydriasis, HOM, Male, WTSI

Ppp5c^{tm1a(EUCOMM)Wtsi}
eye, persistence of hyaloid vascular system, HOM, Female, WTSI

Ppp5c^{tm1a(EUCOMM)Wtsi}
eye, abnormal placement of pupils, cataracts, abnormal pupil morphology, cornea/lens fusion, corneal opacity, HOM, Female, WTSI

Ppp5c^{tm1a(EUCOMM)Wtsi}
back skin, HOM, Female, WTSI

Human diseases caused by Ppp5c 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 Ppp5c (0 diseases)
Human diseases predicted to be associated with Ppp5c (585 diseases)

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

The table below shows human diseases predicted to be associated to Ppp5c by phenotypic similarity.

Disease	Matching phenotypes	Source
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Isolated Klippel-Feil Syndrome	Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab...	ORPHA:2345
Klippel-Feil Syndrome 2, Autosomal Recessive	Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly	OMIM:214300
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste...	OMIM:122600
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, Abnormal rib...	ORPHA:2522
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum,...	ORPHA:3268
Diaphanospondylodysostosis	Short neck, Missing ribs, Short thorax, Enlarged thorax, Absent or minimally ossified vertebral b...	ORPHA:66637
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Spinal instability	OMIM:251250
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
Cervical Rib	Cervical ribs	OMIM:117900
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Neutrophilia, Abscess, Failure to thrive in infancy, Splenomegaly, Ost...	OMIM:612852
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis	ORPHA:1436
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi...	OMIM:618469
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis	OMIM:309620
Wildervanck Syndrome	Fused cervical vertebrae	OMIM:314600
Klippel-Feil Syndrome 1, Autosomal Dominant	Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly...	OMIM:118100
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Irregular hyperpigmentation, Abnormal rib morphology, Hypopigmented skin patches, Melanocytic nevus	ORPHA:2435
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Short thorax, Vertebral segmentation defect	OMIM:618845
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Familial Congenital Mirror Movements	Fused cervical vertebrae	ORPHA:238722
Kniest Dysplasia	Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De...	ORPHA:485
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect	OMIM:608681
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Heart Defects-Limb Shortening Syndrome	Accelerated skeletal maturation, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra...	ORPHA:1354
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc...	OMIM:613686
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib morphology, Abnormal form of t...	ORPHA:2790
Kyphomelic Dysplasia	Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffness, Short thorax, Limitat...	ORPHA:1801
Lamb-Shaffer Syndrome	Fused cervical vertebrae, Thoracic kyphosis, Scoliosis	ORPHA:530983
Wildervanck Syndrome	Fused cervical vertebrae, Short neck	ORPHA:3456
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp...	OMIM:610017
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Inguinal hernia, Supernumerary nipple, Pectus excavatum, Widow's peak, Supernum...	OMIM:619122
Frontometaphyseal Dysplasia 1	Scapular winging, Interphalangeal joint contracture of finger, Limited elbow movement, Ankle flex...	OMIM:305620
Developmental And Speech Delay Due To Sox5 Deficiency	Thoracic kyphoscoliosis, Vertebral fusion, Lumbar hyperlordosis, Pectus carinatum, Scoliosis, But...	ORPHA:313892
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Barrel-shaped chest, Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Sho...	OMIM:178110
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Hyperglycemia, Abnormality of the cervical spine, Glucose intolerance	OMIM:307500
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab...	OMIM:616549
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemiver...	OMIM:271520
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ...	OMIM:184400
Autosomal Dominant Spondylocostal Dysostosis	Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m...	ORPHA:1797
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Intellectual Developmental Disorder, Autosomal Dominant 52	Scapular winging, Lumbar hyperlordosis, Small for gestational age, Overweight, Pectus carinatum, ...	OMIM:617796
Thrombocytopenia-Absent Radius Syndrome	Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Cervical ribs, Pate...	ORPHA:3320
Kbg Syndrome	Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, C...	ORPHA:2332
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont...	OMIM:312150
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio...	OMIM:135100
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Osteoporosi...	OMIM:618000
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio...	ORPHA:2635
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Thoracic hemivertebrae, Abnormal thorax morphology, Scoliosis	ORPHA:1445
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur...	OMIM:265000
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verte...	ORPHA:2234
Waardenburg Syndrome, Type 1	White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha...	OMIM:193500
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont...	OMIM:253290
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Pectus...	OMIM:259440
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Overweight, Cervical C2/C3 vertebral fusion	ORPHA:370010
Fanconi Anemia, Complementation Group I	Short neck, Neutropenia, Fused cervical vertebrae, Bone marrow hypocellularity, Decreased body we...	OMIM:609053
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormal rib morphology, Vertebral segmentation defec...	ORPHA:1836
Brachydactyly, Type B1	Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Camptodactyly, Join...	OMIM:113000
Spondylometaphyseal Dysplasia, Axial	Anterior rib cupping, Splenomegaly, Platyspondyly, Narrow chest, Scoliosis, Thoracic hypoplasia	OMIM:602271
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Pectus excavatum, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta, Butterfly ver...	OMIM:619227
Thoracolaryngopelvic Dysplasia	Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,...	OMIM:187760
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Limitation of joint mobility, Flared, irregular rib ends	ORPHA:168555
Stapes Ankylosis With Broad Thumbs And Toes	Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger	OMIM:184460
Basal Cell Nevus Syndrome 1	Rhabdomyoma, Hemivertebrae, Cardiac fibroma, Abnormal sternum morphology, Vertebral fusion, Odont...	OMIM:109400
Spondylometaphyseal Dysplasia, Type A4	Ovoid vertebral bodies, Enlargement of the costochondral junction, Flat acetabular roof, Pectus c...	OMIM:609052
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck	OMIM:244600
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Cachexia, Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:93941
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Reduced bone mineral density, Pectus carinatum, Iron deficiency anemia, Abnormal bone...	ORPHA:93315
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly	OMIM:617333
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Vertebral segmentation defect, Abnormal rib morphology, Short neck	ORPHA:2578
Atelosteogenesis, Type I	11 pairs of ribs, Long clavicles, Short neck, Thoracic platyspondyly, Elbow dislocation, Bell-sha...	OMIM:108720
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Short neck, Multiple joint dislocation, Hip dislocation, Obesity, Thin ribs, Irregu...	OMIM:618395
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis	OMIM:606612
Metatropic Dysplasia	Enlarged joints, Flexion contracture, Long coccyx, Narrow chest, Flaring of rib cage, Anisospondy...	OMIM:156530
Mantle Cell Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:52416
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr...	ORPHA:1724
Chromosome 8Q22.1 Duplication Syndrome	Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo...	OMIM:151200
Gorlin Syndrome	Vertebral fusion, Hemivertebrae, Vertebral wedging, Neoplasm, Scoliosis	ORPHA:377
Verheij Syndrome	Joint laxity, Vertebral fusion, Small for gestational age, Short neck, Hemivertebrae, Hip disloca...	OMIM:615583
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Albinism, Kyphosis, Osteoporosis, Platyspondyly, Hypopigmentation of th...	ORPHA:2786
Osteogenesis Imperfecta, Type Xv	Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios...	OMIM:615220
Becker Nevus Syndrome	Lipoatrophy, Hypermelanotic macule, Supernumerary nipple, Pectus excavatum, Kyphosis, Rib fusion,...	ORPHA:64755
Spondyloepimetaphyseal Dysplasia, Irapa Type	Osteoarthritis, Limitation of joint mobility, Abnormal rib morphology, Abnormal carpal morphology...	ORPHA:93351
Aarskog-Scott Syndrome	Genu recurvatum, Camptodactyly of finger, Short neck, Pectus excavatum, Joint hyperflexibility, A...	ORPHA:915
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Failure to thrive in infancy	OMIM:619175
Mosaic Trisomy 14	Camptodactyly of finger, Short neck, Abnormal rib morphology, Narrow chest, Failure to thrive	ORPHA:1703
Sifrim-Hitz-Weiss Syndrome	Wormian bones, Fused cervical vertebrae, Short clavicles, Flat acetabular roof	OMIM:617159
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Poland Syndrome	Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae	OMIM:173800
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi...	ORPHA:2916
Spondyloepimetaphyseal Dysplasia, Irapa Type	Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamate fusion, Enlargement of the costochondra...	OMIM:271650
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Trident acetabulum, Narrow chest, Short ribs, Acetabular spurs, Horizontal...	OMIM:617405
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr...	ORPHA:90650
Shashi-Pena Syndrome	Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion	OMIM:617190
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Obesity, Scoliosis...	ORPHA:2180
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Platyspondyly, Narrow chest, D...	ORPHA:93267
Diastrophic Dysplasia	Joint dislocation, Abnormal clavicle morphology, Increased bone mineral density, Camptodactyly of...	ORPHA:628
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis	OMIM:607155
Frontometaphyseal Dysplasia	Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move...	ORPHA:1826
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal rib morphology, Abnormali...	ORPHA:1486
Becker Nevus Syndrome	Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis	OMIM:604919
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Caudal Regression Syndrome	Joint stiffness, Missing ribs, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Sc...	ORPHA:3027
Obesity Due To Prohormone Convertase I Deficiency	Increased adipose tissue, Delayed skeletal maturation, Hyperinsulinemia, Obesity, Hypoglycemic se...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Increased adipose tissue, Delayed skeletal maturation, Hyperinsulinemia, Obesity, Hypoglycemic se...	ORPHA:71526
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Scapular winging, Block vertebrae, Tarsal synostosis, Short neck, Hyperlordosis...	OMIM:272460
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Long clavicles, Lateral clavicle hook, Elbow dislocation, Anterior vertebral fusion, Shoulder dis...	OMIM:171480
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Aplasia/Hypoplasia of the vertebr...	ORPHA:168549
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Short neck, Large for gestational age, Synophrys, Hemive...	OMIM:213980
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Facial capillary hemangioma, Lateral clavicle hook, Thrombocytopenia, Leukocytosis,...	OMIM:274000
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Failure to thrive, Sparse facial hair, Small for gestational age, Sparse axillary hai...	OMIM:608154
White Forelock With Malformations	Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, White forelock, Spr...	ORPHA:2475
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Lumbar hyperlordosis, Cupped ribs, Flat acetabular roof, Irregular vertebral endplates, Platyspon...	OMIM:609616
Osteogenesis Imperfecta, Type Ii	Small for gestational age, Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Absent ...	OMIM:166210
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Abnormal vertebral morphology	ORPHA:280195
Glycogen Storage Disease Vi	Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholestero...	OMIM:232700
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Camptodactyly of finger,...	ORPHA:2311
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Long clavicles, Severe B lymphocytopenia, Contracture of the distal interphalangeal joint of the ...	ORPHA:83617
3Q29 Microdeletion Syndrome	Pectus excavatum, Pectus carinatum, Abnormality of skin pigmentation, Joint hyperflexibility, Six...	ORPHA:65286
Arnold-Chiari Malformation Type I	Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac...	ORPHA:268882
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Join...	ORPHA:2759
Mucopolysaccharidosis, Type Iiia	Inguinal hernia, Thickened ribs, Joint stiffness, Synophrys, Ovoid thoracolumbar vertebrae, Coars...	OMIM:252900
Grant Syndrome	Joint dislocation, Abnormal rib morphology, Decreased skull ossification, Joint hyperflexibility,...	ORPHA:2097
Mucopolysaccharidosis Type 6	Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Splenomegaly, Genu valgum, Broad r...	ORPHA:583
Larsen Syndrome	Joint laxity, Vertebral fusion, Cervical kyphosis, Pectus excavatum, Elbow dislocation, Dislocate...	OMIM:150250
Juberg-Hayward Syndrome	Abnormality of the elbow, Abnormal rib morphology, Radioulnar synostosis, Scoliosis, Abnormality ...	ORPHA:2319
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Cervical hemivertebrae, Short neck, Pectus ex...	ORPHA:508498
Hypophosphatasia	Failure to thrive in infancy, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Nar...	ORPHA:436
Fibrochondrogenesis 2	Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia	OMIM:614524
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Multiple rib fractures, Small for gestational age, Recurrent fractures, Beaded ribs, ...	OMIM:616229
Lateral Meningocele Syndrome	Vertebral fusion, Short neck, Pectus excavatum, Kyphosis, Sclerosis of skull base, Scoliosis, Wor...	OMIM:130720
Immunodeficiency 104	Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re...	OMIM:608971
Femoral-Facial Syndrome	Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Vertebral segmentation defect, R...	ORPHA:1988
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim...	OMIM:203500
Mucopolysaccharidosis, Type Iiib	Thickened ribs, Joint stiffness, Splenomegaly, Ovoid thoracolumbar vertebrae, Dense calvaria	OMIM:252920
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo...	OMIM:602196
Postaxial Acrofacial Dysostosis	Congenital hip dislocation, Supernumerary nipple, Pectus excavatum, Radioulnar synostosis, Supern...	OMIM:263750
Koolen-De Vries Syndrome	Vertebral fusion, Pectus excavatum, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral ...	ORPHA:96169
Microphthalmia, Syndromic 3	Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Hypothalamic hamar...	OMIM:206900
Cardiospondylocarpofacial Syndrome	Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Fused cervical vertebra...	OMIM:157800
Mucopolysaccharidosis Type 4	Joint dislocation, Short neck, Hyperlordosis, Kyphosis, Delayed skeletal maturation, Short thorax...	ORPHA:582
Aicardi Syndrome	Block vertebrae, Missing ribs, Hemivertebrae, Rib fusion, Teratoma, Carcinoma, Supernumerary ribs...	OMIM:304050
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Small for gestational age, Anterior rib cupping, Ovoid vert...	OMIM:260400
Duane-Radial Ray Syndrome	Fused cervical vertebrae, Shoulder dislocation, Spina bifida occulta, Scoliosis	OMIM:607323
Microcephalic Primordial Dwarfism, Toriello Type	Delayed skeletal maturation, Abnormal rib morphology, Neutropenia	ORPHA:2643
Mucopolysaccharidosis, Type Iiic	Thickened ribs, Kyphoscoliosis, Joint stiffness, Synophrys, Ovoid thoracolumbar vertebrae, Coarse...	OMIM:252930
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Achondrogenesis Type 1B	Abnormal enchondral ossification, Short neck, Short thorax, Abnormal rib morphology, Narrow chest	ORPHA:93298
Chops Syndrome	Tracheomalacia, Cervical C2/C3 vertebral fusion, Obesity, Splenomegaly	OMIM:616368
Apert Syndrome	Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Delayed epiphyseal ossificat...	OMIM:101200
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Delayed skeletal...	OMIM:184252
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Lateral clavicle hook, Obesity, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ...	OMIM:615633
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:3109
Thakker-Donnai Syndrome	Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck	ORPHA:1780
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Failure to thrive, Tarsal synostosis, Camptodactyly of finger, El...	ORPHA:90652
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:607624
Koolen-De Vries Syndrome	Vertebral fusion, Prominent metopic ridge, Sacral dimple, Small for gestational age, Pectus excav...	OMIM:610443
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Slow-growing hair, Short neck, Abnormal hair morphology, Kyphosis, Abnormal rib morphology, Pectu...	ORPHA:3082
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, Hepatic steatosis	OMIM:614480
Mucopolysaccharidosis, Type Iva	Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Short neck, Hyperlordosis, Hy...	OMIM:253000
Gm1-Gangliosidosis, Type I	Thickened ribs, Short neck, Joint stiffness, Kyphosis, Splenomegaly, Vacuolated lymphocytes, Hypo...	OMIM:230500
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Holt-Oram Syndrome	Abnormal clavicle morphology, Down-sloping shoulders, Joint stiffness, Pectus excavatum, Kyphosis...	ORPHA:392
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco...	ORPHA:1145
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Horizontal inferior border of scapula, Hypoplasia of the od...	ORPHA:239
Cartilage-Hair Hypoplasia	Joint laxity, Lymphopenia, Macrocytic anemia, Lumbar hyperlordosis, Impaired lymphocyte transform...	OMIM:250250
Frontometaphyseal Dysplasia 2	Hip contracture, Congenital hip dislocation, Elbow contracture, Pectus excavatum, Fused cervical ...	OMIM:617137
Craniodiaphyseal Dysplasia	Abnormal rib morphology	ORPHA:1513
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Anterior rib cupping, Hyperlordosis, Hypoplasia of the odontoid process, Pectus carinatum, Genu v...	OMIM:184250
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Failure to thrive, Splenomegaly	OMIM:269840
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Diabetes mellitus, Cachexia, Joint stiffness, Pectus exc...	ORPHA:3242
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac...	OMIM:259420
Kbg Syndrome	Vertebral fusion, Short neck, Delayed skeletal maturation, Rib fusion, Vertebral arch anomaly, Ce...	OMIM:148050
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Apert Syndrome	Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion, Ovarian neoplasm	ORPHA:87
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Limited elbow extension, Flat ace...	OMIM:608728
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice, Weight loss	ORPHA:79238
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly, Abnormally ossified vertebrae, Abnormal rib morphology	ORPHA:3035
Prune Belly Syndrome	Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def...	ORPHA:2970
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Short neck, Missing ribs, Abnormality of the spleen, Abnormal rib morpho...	ORPHA:1834
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Platyspondyly, Scoliosis, Severe platyspondyly	OMIM:608940
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspon...	OMIM:619698
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Recurrent fractures, Joint hypermobility, Thin ribs, Biconcave vertebral bodies, Wo...	OMIM:617952
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis	ORPHA:66661
Aicardi Syndrome	Block vertebrae, Missing ribs, Rib fusion, Multiple lipomas, Supernumerary ribs, Scoliosis, Bifid...	ORPHA:50
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ...	OMIM:618963
Phaver Syndrome	Camptodactyly of finger, Joint stiffness, Abnormal rib morphology, Abnormal form of the vertebral...	ORPHA:2876
Cerebrofaciothoracic Dysplasia	Abnormal hair pattern, Short neck, Synophrys, Rib fusion, Hemivertebrae, Low posterior hairline, ...	ORPHA:1394
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Cooper-Jabs Syndrome	Camptodactyly of finger, Missing ribs, Abnormal rib morphology, Reduced bone mineral density, Joi...	ORPHA:1488
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Pseudoachondroplasia	Joint laxity, Lumbar hyperlordosis, Genu recurvatum, Limited hip extension, Spatulate ribs, Ulnar...	OMIM:177170
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Short neck, Abnormal rib morphology, Abnormal form...	ORPHA:2021
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Lumbar hyperlordosis, Short neck, Splenomegaly, Delayed epiphyseal ossification, Be...	OMIM:602557
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology	OMIM:601076
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ...	OMIM:269250
Craniodiaphyseal Dysplasia, Autosomal Dominant	Thickened ribs, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis	OMIM:122860
Achondrogenesis Type 1A	Multiple rib fractures, Recurrent fractures, Short neck, Abnormal enchondral ossification, Short ...	ORPHA:93299
Jeune Syndrome	Abnormal clavicle morphology, Abnormality of retinal pigmentation, Short thorax, Abnormal rib mor...	ORPHA:474
Galactosemia Iii	Splenomegaly, Hepatomegaly, Jaundice, Failure to thrive	OMIM:230350
Metaphyseal Chondrodysplasia, Schmid Type	Lumbar hyperlordosis, Anterior rib cupping, Obesity, Osteosclerosis of ribs, Irregular vertebral ...	ORPHA:174
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Cole-Carpenter Syndrome	Recurrent fractures, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Jo...	ORPHA:2050
Melnick-Needles Syndrome	Delayed cranial suture closure, Short thorax, Abnormal rib morphology, Hip dislocation, Osteolyti...	ORPHA:2484
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy	ORPHA:86893
3M Syndrome	Scapular winging, Congenital hip dislocation, Short neck, Hyperlordosis, Increased vertebral heig...	ORPHA:2616
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Wide-cupped costochondral junctions, Platyspondyly, Short ribs,...	OMIM:187601
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Down-sloping shoulders, Pectus excavatum, Hyperextensible hand joints, Abnormal...	OMIM:227330
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Platyspondyly, Decreased skull ossification, Thin ribs	OMIM:300863
Spondyloepimetaphyseal Dysplasia, Missouri Type	Irregular sclerotic endplates, Delayed skeletal maturation, Osteoarthritis, Platyspondyly, Flared...	OMIM:602111
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Multiple rib fractures, Fractured radius, Small for gestational age, Beaded ribs, Sho...	OMIM:616897
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Joint hyperflexibility, Decreased calvarial ossification, Abnormal rib morphology, Recurrent frac...	ORPHA:2772
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs	ORPHA:66630
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Lymphoproliferative disorder, Autoimmune thrombocytopenia, Follic...	OMIM:614470
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Flat acetabular roof, Thin ribs, ...	OMIM:151210
Three M Syndrome 2	Scapular winging, Lumbar hyperlordosis, Small for gestational age, Short neck, Hyperlordosis, Del...	OMIM:612921
Robinow Syndrome, Autosomal Recessive 1	Joint laxity, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Short neck, Pectus e...	OMIM:268310
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Infertility, Cirrhosis, A...	OMIM:602390
Simpson-Golabi-Behmel Syndrome	Vertebral fusion, Congenital hip dislocation, Camptodactyly of finger, Nephroblastoma, Accelerate...	ORPHA:373
Dyggve-Melchior-Clausen Disease	Short neck, Flat glenoid fossa, Pectus carinatum, Thoracic kyphosis, Multicentric ossification of...	OMIM:223800
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia	ORPHA:100024
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Cenani-Lenz Syndrome	Elbow dislocation, Abnormal rib morphology, Hip dislocation, Abnormal form of the vertebral bodie...	ORPHA:3258
Cole-Carpenter Syndrome 2	Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Pla...	OMIM:616294
Lymphangiectasia, Intestinal	Lymphopenia, Prominent floating ribs	OMIM:152800
Cantú Syndrome	Ovoid vertebral bodies, Curly eyelashes, Accelerated skeletal maturation, Short neck, Delayed ske...	ORPHA:1517
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Sprengel anomaly, Cervical ribs, Thoracolumbar scoliosis, Autoimmune thrombocytopenia	OMIM:601389
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat...	ORPHA:33445
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Failure to thrive, Ne...	ORPHA:79301
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Low back pain, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Achondrogenesis, Type Ia	Barrel-shaped chest, Hypoplastic scapulae, Hypoplastic sacrum, Beaded ribs, Short neck, Abnormal ...	OMIM:200600
Brachytelephalangic Chondrodysplasia Punctata	Stippling of the epiphyses of the distal phalanges of the hand, Calcaneal epiphyseal stippling, C...	ORPHA:79345
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Hyperlordosis, Delayed skeletal maturation, Limitation of joint mobility, Abnormal rib morphology...	ORPHA:3068
Obesity And Hypopigmentation	Red hair, Hyperinsulinemia, Obesity	OMIM:620195
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Monosomy 9Q22.3	Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Accelerated skeletal matur...	ORPHA:77301
Chromosome 16P13.3 Duplication Syndrome	Sacral dimple, Short neck, Pectus excavatum, Hip dislocation, Cervical C5/C6 vertebrae fusion, Ca...	OMIM:613458
Pontine Tegmental Cap Dysplasia	Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis, Failure to thrive	OMIM:614688
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Failure to thrive	ORPHA:172
Poland Syndrome	Aplasia/Hypoplasia of the sternum, Missing ribs, Short neck, Kyphosis, Retinal hamartoma, Abnorma...	ORPHA:2911
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Acrodysostosis 2 With Or Without Hormone Resistance	Diabetes mellitus, Blue irides, Advanced ossification of carpal bones, Spinal canal stenosis, Obe...	OMIM:614613
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden...	ORPHA:545
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Delayed closure of the anterior fontanell...	OMIM:224300
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Delayed ske...	OMIM:300232
Fibrochondrogenesis 1	Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Short neck, Widely patent sagittal su...	OMIM:228520
Osteogenesis Imperfecta, Type X	Osteopenia, Multiple rib fractures, Thoracic scoliosis, Joint laxity, Generalized joint laxity, T...	OMIM:613848
Myhre Syndrome	Vertebral fusion, Small for gestational age, Short neck, Joint stiffness, Limitation of joint mob...	OMIM:139210
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Accessory spleen, Small for gest...	OMIM:194190
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia	OMIM:613313
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Mucopolysaccharidosis, Type Ivb	Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Joint stiffnes...	OMIM:253010
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Horizontal rib...	OMIM:618019
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, B-cell lymphoma, An...	OMIM:102700
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Thrombo...	OMIM:611209
Waardenburg Syndrome, Type 3	Scapular winging, Partial albinism, Camptodactyly of finger, Synophrys, Blue irides, Hypopigmente...	OMIM:148820
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Flexion contracture, Rib osteolysis, Alopecia, Sparse eyebrow, Osteoporos...	OMIM:614008
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, ...	OMIM:610915
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Joint laxity, Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Obesity, Irregular chondroco...	OMIM:250420
Alagille Syndrome	Failure to thrive, Delayed skeletal maturation, Abnormal rib morphology, Abnormal form of the ver...	ORPHA:52
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle	ORPHA:721
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal rib morphology, Joint stiffness	ORPHA:2167
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Hypoplastic scapulae, Short neck, Kyphosis, Hemivertebrae, Hip disl...	ORPHA:958
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Horizontal ribs, Delayed skeletal maturation, Bell-shaped thorax, Normochromic anemia, Neutropeni...	OMIM:614857
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis, Failure to thrive	OMIM:619868
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Vertebral segmentation defect, Abnormal rib morphology	ORPHA:1120
Campomelia, Cumming Type	Abnormally ossified vertebrae, Abnormal thorax morphology, Abnormal rib morphology, Myelodysplasia	ORPHA:1318
Greenberg Dysplasia	Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Hypoplastic v...	OMIM:215140
Cartilage-Hair Hypoplasia	Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Flaring of lower rib cag...	ORPHA:175
Mosaic Trisomy 8	Camptodactyly of finger, Short neck, Limitation of joint mobility, Abnormal rib morphology, Patel...	ORPHA:96061
Aspergillosis	Osteomyelitis, Eosinophilia, Hematological neoplasm, Abnormal rib morphology, Abnormality of the ...	ORPHA:1163
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma	ORPHA:882
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Small for gestational age, Hypoglycemia, Onychauxis, Insulin-resistant diabetes mellitus, Hyperin...	OMIM:262190
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Thin ribs, Decreased calvarial ossification, Decreased body weight, Arthrogrypo...	OMIM:618265
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Enlargement of the ankles, Recurrent fractures, Enlargement of the costochondral junction, Delaye...	OMIM:600081
Kenny-Caffey Syndrome, Type 1	Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Delayed skeletal matu...	OMIM:244460
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Spatulate ribs, Short neck, Pectus excavatum, Accel...	OMIM:253220
Cat-Eye Syndrome	Abnormal rib morphology	ORPHA:195
Achondrogenesis, Type Ii	Barrel-shaped chest, Absent vertebral body mineralization, Short ribs, Horizontal ribs	OMIM:200610
Lethal Kniest-Like Dysplasia	Anterior rib cupping, Short neck, Hypoplastic vertebral bodies, Coronal cleft vertebrae, Platyspo...	ORPHA:2347
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m...	ORPHA:2769
Mucolipidosis Iii Alpha/Beta	Craniosynostosis, Irregular carpal bones, Short ribs, Scoliosis, Broad ribs, Shallow acetabular f...	OMIM:252600
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Vertebral arch anomaly, Wormian bones, Broad ribs	ORPHA:85184
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Ankle swelling, Leukocytosis, Cervical lymphadenopathy, Weight loss, Ly...	ORPHA:514
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Abnormal thorax morphology, Abnormal form of the vertebral bodies, Thin ribs, Hepatic hemangioma,...	ORPHA:73230
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Decreased body weight, Flexion contracture, Thin ribs	OMIM:614833
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Cyanosis, Failure to thrive in infancy, Osteomalacia, Stippled calcifica...	ORPHA:51608
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal rib morphology	ORPHA:1506
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy	ORPHA:42642
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Wormian bones, Obesity, Tracheomalacia, Cervical C2/C3 vertebral fusion, Abnormal vertebral morph...	ORPHA:444077
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White...	ORPHA:897
Brittle Cornea Syndrome 1	Joint laxity, Congenital hip dislocation, Atypical scarring of skin, Scoliosis, Red hair, Dentino...	OMIM:229200
Hurler Syndrome	Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Splenomegaly, Limitation of jo...	ORPHA:93473
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Platyspondyly, Thin ribs	ORPHA:163966
Lethal Congenital Contracture Syndrome 5	Congenital contracture, Flexion contracture, Small for gestational age, Thin ribs	OMIM:615368
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Meier-Gorlin Syndrome 1	Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Flexion contracture, Hemivertebrae, P...	OMIM:224690
Kagami-Ogata Syndrome	Long clavicles, Kyphoscoliosis, Splenomegaly, Flexion contracture, Thin ribs, Bell-shaped thorax	OMIM:608149
Bent Bone Dysplasia Syndrome 2	Osteopenia, Short neck, Thin ribs, Coronal cleft vertebrae, Decreased calvarial ossification, Pla...	OMIM:620076
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Robinow Syndrome	Fused thoracic vertebrae, Small for gestational age, Kyphoscoliosis, Missing ribs, Rib fusion, He...	ORPHA:97360
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Eunuchoid habitus, Pectus excavatum, Delayed skeletal maturation, Synophrys, Hirsutis...	ORPHA:2463
Trisomy 13	Kyphosis, Abnormal rib morphology, Capillary hemangioma, Narrow chest, Scoliosis	ORPHA:3378
Proximal 16P11.2 Microdeletion Syndrome	Craniosynostosis, Rib fusion, Obesity, Scoliosis, Failure to thrive, Abnormal vertebral morphology	ORPHA:261197
Craniosynostosis, Herrmann-Opitz Type	Abnormal rib morphology, Craniosynostosis	ORPHA:2145
Ataxia-Telangiectasia	Hypopigmentation of hair, Diabetes mellitus, Premature graying of hair, Type II diabetes mellitus...	ORPHA:100
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
X-Linked Hypophosphatemia	Craniosynostosis, Beaded ribs, Generalized osteosclerosis, Enlargement of the costochondral junct...	ORPHA:89936
Duane Retraction Syndrome	Central heterochromia, Patchy hypopigmentation of hair, Short neck, Spina bifida occulta, Hypopig...	ORPHA:233
Cleidocranial Dysplasia	Hypoplastic scapulae, Down-sloping shoulders, Recurrent fractures, Abnormal sacrum morphology, Ab...	ORPHA:1452
Antley-Bixler Syndrome	Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger, Abnormal rib mor...	ORPHA:83
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Craniometadiaphyseal Dysplasia	Osteopenia, Cubitus valgus, Genu valgum, Sclerosis of skull base, Scoliosis, Wormian bones, Broad...	OMIM:269300
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Azoospermia, Decreased mean corpuscular volume, Hypogonadism, Poikilo...	OMIM:615234
Autosomal Recessive Multiple Pterygium Syndrome	Failure to thrive, Camptodactyly of finger, Multiple pterygia, Pectus excavatum, Limitation of jo...	ORPHA:2990
Occipital Horn Syndrome	Joint laxity, Persistent open anterior fontanelle, Pelvic bone exostoses, Broad clavicles, Pectus...	OMIM:304150
Gracile Bone Dysplasia	Asplenia, Thin ribs, Decreased skull ossification, Hypoplastic spleen, Failure to thrive	OMIM:602361
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Rib fusion, Posterior r...	ORPHA:263508
Schwartz-Jampel Syndrome	Short neck, Pectus carinatum, Wrist flexion contracture, Increased bone mineral density, Abnormal...	ORPHA:800
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv...	ORPHA:169154
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Lymphadenopathy, Decr...	OMIM:618495
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:615085
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation	ORPHA:177910
Elsahy-Waters Syndrome	Pectus excavatum, Cervical C2/C3 vertebral fusion	OMIM:211380
Spondylometaphyseal Dysplasia, Sedaghatian Type	Abnormal scapula morphology, Accelerated skeletal maturation, Delayed skeletal maturation, Abnorm...	ORPHA:93317
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Autosomal Recessive Kenny-Caffey Syndrome	Thin clavicles, Delayed skeletal maturation, Thin ribs, Decreased skull ossification, Calvarial o...	ORPHA:93324
Oculocerebrocutaneous Syndrome	Alopecia, Congenital hip dislocation, Abnormal fingernail morphology, Congenital diaphragmatic he...	ORPHA:1647
Vacterl/Vater Association	Abnormal intervertebral disk morphology, Abnormal sacrum morphology, Abnormal rib morphology, Cav...	ORPHA:887
Radio-Renal Syndrome	Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck	ORPHA:3015
Mucopolysaccharidosis, Type Vi	Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Joint stiffness, Anterior wedging o...	OMIM:253200
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Irregular vert...	OMIM:271640
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Stiff neck, Short neck, Hypoplasia of the thymus, Narrow chest, Broad ribs	OMIM:617022
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Small for gestational age, Large for gestational age, Coat hanger sign of ribs, Umbi...	ORPHA:254534
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Abnormal rib morphology, Missing ribs	ORPHA:3301
Spondylometaphyseal Dysplasia, Algerian Type	Lumbar hyperlordosis, Anterior rib cupping, Kyphoscoliosis, Genu valgum, Platyspondyly, Carpal bo...	OMIM:184253
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Osteomalacia, Testicular neoplasm, Cutaneous myxoma, Bone pain, Abn...	ORPHA:249
Wilson Disease	Hepatomegaly, Abnormality of the menstrual cycle, Thrombocytopenia, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Absent peripheral lymph nodes in presence of infection, Increased T cell count, Incre...	ORPHA:98813
Acromesomelic Dysplasia 4	Thoracic scoliosis, Lumbar hyperlordosis, Accelerated skeletal maturation, Thoracic platyspondyly...	OMIM:619636
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Xylt1-Cdg	Joint dislocation, Joint laxity, Accelerated skeletal maturation, Synophrys, Truncal obesity, Sho...	ORPHA:370930
Simpson-Golabi-Behmel Syndrome, Type 1	Inguinal hernia, Short nail, Supernumerary nipple, Accelerated skeletal maturation, Pectus excava...	OMIM:312870
Squalene Synthase Deficiency	Failure to thrive in infancy, Elbow flexion contracture, Abnormality of hair pigmentation, Knee f...	OMIM:618156
Incontinentia Pigmenti	Ridged nail, Alopecia, Scarring, Kyphoscoliosis, Supernumerary nipple, Hemivertebrae, Nail pits, ...	OMIM:308300
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Joint laxity, Inguinal hernia, Genu recurvatum, Craniosynostosis, Lateral clavicle ho...	OMIM:182212
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Multiple Pterygium-Malignant Hyperthermia Syndrome	Prominent metopic ridge, Camptodactyly of finger, Pectus excavatum, Kyphosis, Abnormal rib morpho...	ORPHA:2215
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contracture, Shoulder flexion c...	OMIM:620369
Mucopolysaccharidosis, Type Iiid	Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short neck, Joint stiffness, Splenomegaly, A...	OMIM:252940
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Narrow chest, Horizontal ribs	OMIM:617895
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal form of t...	ORPHA:666
Kagami-Ogata Syndrome	Kyphoscoliosis, Short neck, Large for gestational age, Limitation of joint mobility, Bell-shaped ...	ORPHA:254519
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Joint hypermobility, Thin ribs	ORPHA:456328
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Hemochromatosis, Type 1	Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoospermia, Impotence, ...	OMIM:235200
Acro-Renal-Ocular Syndrome	Vertebral fusion, Vertebral segmentation defect	ORPHA:959
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Lymphoproliferative disorder, Eosinophilia, Autoimmune thrombocytope...	ORPHA:911
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Kyphomelic Dysplasia	Anterior rib cupping, Lateral clavicle hook, Limitation of joint mobility, Undulate ribs, Flat ac...	OMIM:211350
Pyknoachondrogenesis	Abnormal intramembranous ossification, Short thorax, Poorly ossified vertebrae, Enlarged thorax, ...	ORPHA:3003
Severe Congenital Nemaline Myopathy	Increased connective tissue, Multiple prenatal fractures, Abnormal thorax morphology, Flexion con...	ORPHA:171430
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation	ORPHA:411515
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Generalized hirsutism	ORPHA:2221
Premature Aging Syndrome, Penttinen Type	Failure to thrive, Lipoatrophy, Recurrent fractures, Hyperextensibility of the knee, Delayed skel...	OMIM:601812
Autosomal Dominant Popliteal Pterygium Syndrome	Popliteal pterygium, Abnormal rib morphology, Scoliosis, Joint stiffness	ORPHA:1300
Heterotaxy, Visceral, 1, X-Linked	Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Cyanosis, Asplenia, Polysplen...	OMIM:306955
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Joint laxity, Omphalocele, Inguinal hernia, Pectus excavatum, Flexion contracture, Prominent ster...	ORPHA:254528
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Supernumerary nipple, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Broad ribs	ORPHA:2519
Muenke Syndrome	Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, Hypopigmented skin patches, C...	ORPHA:53271
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Wide cranial sutures, Recurrent fractures, Protrusio acetabul...	OMIM:610682
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Failure to thrive, Exocrin...	OMIM:612714
Griscelli Syndrome Type 2	Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Iris hypop...	ORPHA:79477
Lenz-Majewski Hyperostotic Dwarfism	Joint laxity, Hyperextensibility of the finger joints, Failure to thrive, Broad clavicles, Delaye...	OMIM:151050
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Dextrocardia	Abnormality of the spleen, Neuroblastoma, Congenital hip dislocation, Abnormal rib morphology	ORPHA:1666
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Menkes Disease	Hypopigmentation of hair, Osteomyelitis, Inguinal hernia, Recurrent fractures, Tarsal synostosis,...	ORPHA:565
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Ascites, Anemia	ORPHA:75233
Trisomy 1Q	Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Hypoplastic toenails, Shor...	ORPHA:261344
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop...	ORPHA:848
Acrorenal-Mandibular Syndrome	Hypoplastic scapulae, Kyphoscoliosis, Missing ribs, Hemivertebrae, Hip dislocation, Elbow flexion...	OMIM:200980
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Sacral dimple, Alopecia, Sparse eyelashes, Sparse scalp hair, Inguinal hernia, La...	ORPHA:544488
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Decreased circulating cortisol level, Obesity, Hypoglycemic seizures	OMIM:609734
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Sclerosteosis 1	Broad ribs, Sclerotic vertebral endplates, Sclerotic scapulae, Broad clavicles	OMIM:269500
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:614072
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Thoracic hypoplasia, Hamartoma of tongue, Lateral clavicle hook, Short ribs, Scoliosis, Acetabula...	OMIM:613091
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Hypertriglyceridemia, Joint stiffness, Pectus excavatum, Sparse eyebrow, Flexion cont...	OMIM:619127
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hamartoma of tongue, Lateral clavicle hook, Pectus carinatum, Platyspondyly, Thoracic dysplasia, ...	OMIM:263520
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Failure to thrive	OMIM:235555
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Narrow chest, Abnormality of the wrist, Elbow ankylosis, Abnormal vertebral ...	ORPHA:95699
Hyperparathyroidism, Transient Neonatal	Osteopenia, Wide cranial sutures, Recurrent fractures, Undulate ribs, Thin ribs, Short ribs, Narr...	OMIM:618188
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Hepatoblastoma, Short n...	OMIM:269150
Acrocapitofemoral Dysplasia	Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Cupped ribs, Pectus carinatum, De...	OMIM:607778
Atypical Werner Syndrome	Sclerosis of hand bone, Abnormal hair whorl, Fasting hyperinsulinemia, Reduced bone mineral densi...	ORPHA:79474
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia...	OMIM:602450
Brittle Cornea Syndrome	Osteoporosis, Abnormality of hair pigmentation, Corneal scarring, Increased susceptibility to fra...	ORPHA:90354
Autoimmune Lymphoproliferative Syndrome	Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD...	ORPHA:3261
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Failure to thrive	ORPHA:70472
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Pectus carinatum, Genu valgum, Short ribs, Narrow chest, Acetabular spurs...	OMIM:225500
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Pancytopenia, Thickened ribs, Craniosynostosis, Joint stiffness, Pectus...	ORPHA:309282
Oculocutaneous Albinism Type 1	White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect...	ORPHA:352731
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia ...	OMIM:224120
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto...	OMIM:607765
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Anterior rib cupping, Short neck, Pectus excavatum, Hypoplasia of the odontoid process, C1-C2 sub...	OMIM:271665
Van Den Ende-Gupta Syndrome	Sacral dimple, Hypoplastic scapulae, Glenoid fossa hypoplasia, Craniosynostosis, Lateral clavicle...	OMIM:600920
Myotubular Myopathy With Abnormal Genital Development	Joint hypermobility, Thin ribs	OMIM:300219
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cupped ribs, Platyspondyly, Ovoid vertebral bodies, Scoliosis	ORPHA:85167
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Hamartoma of tongue, Short neck, Splenomegaly, Short thorax, Thoracic dyspl...	OMIM:269860
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Weight loss, Cholecystiti...	ORPHA:131
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Ach...	OMIM:613812
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Limitation of movement at ankles, Hypopigmentation of hair, Obesity, Scoliosis, Hypopigmentation ...	ORPHA:98794
Autosomal Dominant Centronuclear Myopathy	Large for gestational age, Cavernous hemangioma, Thin ribs	ORPHA:169189
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Femoral-Facial Syndrome	Limited elbow movement, Missing ribs, Humeroradial synostosis, Rib fusion, Hemivertebrae, Absent ...	OMIM:134780
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Hallermann-Streiff Syndrome	Sparse scalp hair, Wormian bones, Sparse eyelashes, Small for gestational age, Hyperlordosis, Pec...	OMIM:234100
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Inguinal hernia, Thick hair, Joint stiffness, Avascular necrosis of...	ORPHA:581
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Spina bifida occulta	ORPHA:488434
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Short neck, Large for gestational age, Flexion contracture, Hemivertebrae, Narrow chest, Hepatobl...	ORPHA:96334
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Joint stiffness, Spinal canal stenosis, Scoliosis, Broad ribs	OMIM:277600
Cerebrocostomandibular Syndrome	Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ...	OMIM:117650
Campomelic Dysplasia	Thoracic scoliosis, Cervical kyphosis, Delayed epiphyseal ossification, Patellar hypoplasia, Pect...	OMIM:114290
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Sacral dimple, Kyphosis, Abnormal thorax morphology, Delayed skel...	ORPHA:280
Stuve-Wiedemann Syndrome 1	Enlarged joints, Ovoid vertebral bodies, Short neck, Osteoporosis, Elbow flexion contracture, Kne...	OMIM:601559
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Osteopathia Striata With Cranial Sclerosis	Failure to thrive, Tracheomalacia, Delayed closure of the anterior fontanelle, Pectus excavatum, ...	OMIM:300373
Eiken Syndrome	Delayed epiphyseal ossification, Flat acetabular roof, Delayed ossification of carpal bones, Dela...	OMIM:600002
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint dislocation, Joint laxity, Congenital hip dislocation, Protrusio acetabuli, Kyp...	OMIM:225400
Spondylometaphyseal Dysplasia, Sedaghatian Type	11 pairs of ribs, Short neck, Cupped ribs, Horizontal inferior border of scapula, Delayed epiphys...	OMIM:250220
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Prader-Willi Syndrome	Osteopenia, Hypopigmentation of hair, Failure to thrive in infancy, Kyphosis, Osteoporosis, Obesi...	OMIM:176270
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hyperlordosis, Hip dislocation, Obesity, Genu valgum, Hepatosplenomegaly, Broad ribs, Limited elb...	OMIM:301066
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin, Osteopetrosis	OMIM:618541
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Sacrococcygeal teratoma, Failure to thrive in infancy, Nephroblasto...	ORPHA:798
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Hypopigmentation of hair, Osteoporosis, Obesity, Abdominal obesity, Type II diabetes ...	ORPHA:398079
Monosomy 9P	Thin nail, Highly arched eyebrow, Short neck, Congenital diaphragmatic hernia, Synophrys, Limitat...	ORPHA:261112
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Hypopigmentation of hair, Kyphosis, Flexion contracture, Osteoporosis, Increased body...	ORPHA:398069
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Craniosynostosis, Splenomegaly, Bone pain, Abnormal rib morphology, Reduced ...	ORPHA:667
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn...	ORPHA:3440
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Hamartoma of tongue, Short neck, Lateral clavicle hook, Decreased calvarial ossification, Long th...	OMIM:617925
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Myhre Syndrome	Platyspondyly, Abnormal rib morphology, Joint stiffness	ORPHA:2588
Oculocerebrorenal Syndrome Of Lowe	Benign neoplasm of the central nervous system, Recurrent fractures, Osteomalacia, Joint stiffness...	ORPHA:534
Pseudo-Torch Syndrome 2	Thrombocytopenia, Thin ribs	OMIM:617397
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Autosomal Recessive Robinow Syndrome	Sacral dimple, Camptodactyly of finger, Short neck, Pectus excavatum, Kyphosis, Elbow dislocation...	ORPHA:1507
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Fetal Akinesia Deformation Sequence 1	Hip contracture, Small for gestational age, Elbow contracture, Camptodactyly of finger, Short nec...	OMIM:208150
Isolated Biliary Atresia	Hepatomegaly, Small for gestational age, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis...	ORPHA:30391
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Splenomegaly, Aplasia of the epiglottis, Short ribs, Narrow chest, Short clavicles, Hamartoma, Ho...	OMIM:617088
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Vater/Vacterl Association	Abnormal rib morphology, Radioulnar synostosis, Abnormal sternum morphology, Scoliosis, Failure t...	OMIM:192350
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Alagille Syndrome 1	Abnormal rib morphology, Hemivertebrae, Papillary thyroid carcinoma, Failure to thrive, Butterfly...	OMIM:118450
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow dislocation, Delayed skeletal...	ORPHA:2554
Coccidioidomycosis	Osteomyelitis, Abscess, Eosinophilia, Abnormality of the spleen, Mediastinal lymphadenopathy, Ost...	ORPHA:228123
Hereditary Acrokeratotic Poikiloderma	Camptodactyly of finger, Abnormal rib morphology, Hypopigmented skin patches, Joint hyperflexibil...	ORPHA:2907
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio...	ORPHA:999
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Hypopigmentation of hair, Diabetes mellitus, Small for gestational age, Osteoporosis,...	ORPHA:98754
Spondyloepimetaphyseal Dysplasia, X-Linked	Joint laxity, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Limited elbow e...	OMIM:300106
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Recurrent fractures, Pectus excavatum, Thrombocytopenia, Leukopenia, Elliptocytosis...	ORPHA:2785
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Barrel-shaped chest, Pilonidal sinus, Aplasia/Hypoplasia involving the carpal bones, Broad clavic...	OMIM:276820
Weill-Marchesani Syndrome 2	Lumbar hyperlordosis, Joint stiffness, Delayed skeletal maturation, Elbow flexion contracture, Sp...	OMIM:608328
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Hypopigmentation of hair, Diabetes mellitus, Small for gestational age, Osteoporosis,...	ORPHA:98793
Trisomy 18	Omphalocele, Abnormality of retinal pigmentation, Camptodactyly of finger, Congenital diaphragmat...	ORPHA:3380
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Hypopigmentation of hair, Diabetes mellitus, Small for gestational age, Osteoporosis,...	ORPHA:177904
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Hypopigmentation of hair, Diabetes mellitus, Small for gestational age, Osteoporosis,...	ORPHA:177901
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Zttk Syndrome	Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Hemivertebrae, Cervical ribs, Scolio...	OMIM:617140
Pallister-Hall Syndrome	Midline facial capillary hemangioma, Radial head subluxation, Rib fusion, Hemivertebrae, Hip disl...	OMIM:146510
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Hamartoma of tongue, Unicoronal synostosis, Flat acetabular roof, Bell-shaped thorax, Short ribs,...	OMIM:616300
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Multiple rib fractures, Osteopetrosis, Anemia	OMIM:612301
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation	ORPHA:411511
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene...	ORPHA:3322
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Camptodactyly of finger, Splenomegaly, Flexion contracture, Limitation of joint m...	ORPHA:217085
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Prader-Willi Syndrome	Osteopenia, Hypopigmentation of hair, Diabetes mellitus, Osteoporosis, Increased susceptibility t...	ORPHA:739
Kindler Epidermolysis Bullosa	Camptodactyly of finger, Flexion contracture, Abnormal rib morphology, Neoplasm of the urethra, S...	ORPHA:2908
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Craniofacial Microsomia 1	Block vertebrae, Hemivertebrae, Genu valgum, Cervical ribs, Scoliosis, Vertebral hypoplasia	OMIM:164210
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp...	ORPHA:3214
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Camptodactyly of finger, Splenomegaly, Flexion contracture, Limitation of joint m...	ORPHA:217093
Craniotubular Dysplasia, Ikegawa Type	Increased intervertebral space, Broad ribs, Sclerosis of skull base, Platyspondyly	OMIM:619727
1P36 Deletion Syndrome	11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Kyphosis, Abnormality of the spleen, ...	ORPHA:1606
Fryns Syndrome	Short neck, Large for gestational age, Thin ribs, Polysplenia, Camptodactyly, Broad ribs, Joint c...	OMIM:229850
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen...	ORPHA:238468
Autosomal Recessive Faciodigitogenital Syndrome	Hypopigmentation of hair, Dry hair, Down-sloping shoulders, Widow's peak, Joint hyperflexibility,...	ORPHA:1974
Ulbright-Hodes Syndrome	Short neck, Humeroradial synostosis, Abnormal rib morphology, Ovoid thoracolumbar vertebrae, Thin...	ORPHA:3404
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98795
Carney Complex, Type 1	Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Cranioectodermal Dysplasia 2	Joint laxity, Craniosynostosis, Short neck, Pectus excavatum, Splenomegaly, Short ribs, Narrow ch...	OMIM:613610
Restrictive Dermopathy	Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract...	ORPHA:1662
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Lateral clavicle hook, Early ossification of capital femoral epiphyses, Thoracic dysplasia, Short...	OMIM:208500
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Small for gestational age, Portal hypertension, Biliary hyperplasia, Splenomegaly, ...	ORPHA:567983
Wiedemann-Rautenstrauch Syndrome	Short neck, Flexion contracture, Narrow chest, Genu varum, Absent eyebrow, Alopecia, Absent eyela...	OMIM:264090
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Craniosynostosis, Short neck, Pectus excavatum, Delayed skeletal maturation, Hip dislocation, Und...	OMIM:609945
Smith-Lemli-Opitz Syndrome	Short neck, Facial capillary hemangioma, Kyphosis, Abnormal rib morphology, Hip dislocation, Abno...	ORPHA:818
Cystinosis, Nephropathic	Hypopigmentation of hair, Diabetes mellitus, Failure to thrive in infancy, Retinal pigment epithe...	OMIM:219800
Baller-Gerold Syndrome	Bicoronal synostosis, Midface capillary hemangioma, Limited elbow movement, Sagittal craniosynost...	OMIM:218600
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Failure to thrive, Pancreatitis	OMIM:615947
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Short neck, Obesity, Scoliosis, Stellate iris, Hypopigmentation of the ...	ORPHA:177907
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Partial albinism, Abnormal dental enamel morphology, Ocular albinism, M...	ORPHA:79430
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Inguinal hernia, Limitation of joint mobility, Ocular albinism, Iris hy...	ORPHA:2719
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Inguinal hernia, Small for gestational age, Uncombable ha...	ORPHA:84064
Chediak-Higashi Syndrome	Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy...	OMIM:214500
Pagod Syndrome	Abnormal clavicle morphology, Abnormality of the spleen, Abnormal rib morphology	ORPHA:991
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray...	ORPHA:163746
Degcags Syndrome	Osteopenia, Abnormal eyebrow morphology, Sacral dimple, Hypopigmentation of hair, Small for gesta...	OMIM:619488
Charge Syndrome	Abnormality of bone mineral density, Abnormal rib morphology, Hemivertebrae, Scoliosis	ORPHA:138
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lumbar hyperlordosis, Failure to thrive in infancy, Kyphoscoliosis, Sagittal craniosynostosis, Ri...	ORPHA:500150
Chédiak-Higashi Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Hypertriglyceridemia, Large clumps...	ORPHA:167
Nk-Cell Enteropathy	Increased T cell count, Lymphoproliferative disorder	ORPHA:263665
Fanconi Anemia, Complementation Group E	Prolonged G2 phase of cell cycle	OMIM:600901
Fanconi Anemia, Complementation Group A	Prolonged G2 phase of cell cycle	OMIM:227650
Charge Syndrome	Down-sloping shoulders, Radial head subluxation, Abnormal rib morphology, Hemivertebrae, Scoliosi...	OMIM:214800
Fanconi Anemia, Complementation Group C	Prolonged G2 phase of cell cycle	OMIM:227645
Townes-Brocks Syndrome	Failure to thrive, Abnormal rib morphology, Abnormal vertebral morphology	ORPHA:857
Vici Syndrome	Hypopigmentation of hair, Albinism, Ocular albinism, Failure to thrive, Hypopigmentation of the skin	OMIM:242840
Fanconi Anemia, Complementation Group D2	Prolonged G2 phase of cell cycle	OMIM:227646
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Delayed sk...	OMIM:607872
Pallister-Hall Syndrome	Osteochondroma, Midline facial capillary hemangioma, Large for gestational age, Radial head sublu...	ORPHA:672
Sarcoidosis	Hemolytic anemia, Eosinophilia, Thrombocytopenia, Increased T cell count, Weight loss, Lymphadeno...	ORPHA:797

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Lymph node - neoplasm	Ppp5c^{tm1a(EUCOMM)Wtsi}	HOM		Early adult

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 Ppp5c.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Ppp5c^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Ppp5c^{tm1a(EUCOMM)Wtsi}	PMC6459510

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
Ppp5c^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Ppp5c^{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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Gene: Ppp5c MGI:102666

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Histopathology

Legacy Phenotype Associated Images

Human diseases caused by Ppp5c mutations

Histopathology

IMPC related publications

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