Gene Summary

Name:
protein phosphatase 5, catalytic subunit
Synonyms:
ANP receptor,  PP5

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
decreased body length Ppp5ctm1a(EUCOMM)Wtsi HOM   Early adult 9.28×10-10
decreased circulating glucose level Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 8.76×10-08
increased rib number Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 1.09×10-07
increased total body fat amount Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 3.64×10-07
increased lean body mass Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 3.84×10-06
abnormal rib morphology Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 3.31×10-08
vertebral fusion Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 6.98×10-06
abnormal coat/hair pigmentation Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 1.28×10-06
increased thoracic vertebrae number Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 3.85×10-06
decreased circulating triglyceride level Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 1.15×10-11
increased lumbar vertebrae number Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 5.18×10-06

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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

Legacy Phenotype Associated Images

View all 155 images

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.

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 Similarity of
phenotypes
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
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum... ORPHA:2345
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Sprengel anomaly, Short neck OMIM:214300
Spondylocostal Dysostosis 5
Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs... OMIM:122600
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Fused cervical vertebrae, Hyperlordosis, Pectus excavatum, Kyphosis... ORPHA:2522
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Scoliosis, Abnormal rib morphology, Delayed skeletal maturation, Radioulnar syn... ORPHA:3268
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Short... ORPHA:66637
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Fused cervical vertebrae, Broad ribs, Flaring of rib cage, Neutrophilia, Splenomegaly... OMIM:612852
Cervical Rib
Cervical ribs OMIM:117900
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic hemivertebrae ORPHA:1436
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Antecubital pterygium, Flexion contractur... OMIM:618469
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Fused cervical vertebrae, Thoracic hemivertebrae, Prominent metopic ridge OMIM:309620
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Short thorax, Sacral dimple, Vertebral fusion, Vertebral segmentation defect OMIM:618845
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Scoliosis, Abnormal rib morphology, Sprengel anomaly, Short neck... OMIM:118100
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Hypopigmented skin patches, Abnormal rib morphology, Irregular hyperpigmentation, Melanocytic nevus ORPHA:2435
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the... ORPHA:2064
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Kniest Dysplasia
Fused cervical vertebrae, Platyspondyly, Bell-shaped thorax, Delayed epiphyseal ossification, Ver... ORPHA:485
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Bell-shaped thorax, Spina bifida occulta, Short thorax, Sco... OMIM:613686
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Abnormal rib morphology, Kyphosis, Accelerat... ORPHA:1354
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck OMIM:608681
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal r... ORPHA:2790
Vertebral Hypersegmentation And Orofacial Anomalies
Inguinal hernia, Scapular winging, Pectus excavatum, Six lumbar vertebrae, Supernumerary ribs, Jo... OMIM:619122
Kyphomelic Dysplasia
Lateral clavicle hook, Narrow chest, Abnormal form of the vertebral bodies, Short thorax, Flat ac... ORPHA:1801
Lamb-Shaffer Syndrome
Scoliosis, Thoracic kyphosis, Fused cervical vertebrae ORPHA:530983
Frontometaphyseal Dysplasia 1
Limited elbow movement, Ankle flexion contracture, Genu valgum, Fused cervical vertebrae, Cervica... OMIM:305620
Developmental And Speech Delay Due To Sox5 Deficiency
Butterfly vertebrae, Pectus carinatum, Scoliosis, Thoracic kyphoscoliosis, Lumbar hyperlordosis, ... ORPHA:313892
Multiple Synostoses Syndrome 2
Finger symphalangism, Tarsal synostosis, Proximal symphalangism, Humeroradial synostosis, Carpal ... OMIM:610017
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Cervical spinal canal stenosis, Popliteal pterygium, Tarsal synostosis, Spondylolisthesis, Multip... OMIM:178110
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Thoracolumbar scoliosis, Flexion contracture, Acetabular dysplas... OMIM:616549
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Abnormality of the cervical spine, Superior rib anomalies, Glucose intolerance OMIM:307500
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Inguinal hernia, Scoliosis, Thin ribs, Short ribs, Hemivertebrae, Missing ribs, Block vertebrae, ... OMIM:271520
Sprengel Deformity
Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Sprengel anomaly, R... OMIM:184400
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Abno... ORPHA:1797
Kbg Syndrome
Scoliosis, Thoracic kyphosis, Persistent open anterior fontanelle, Delayed skeletal maturation, C... ORPHA:2332
Thrombocytopenia-Absent Radius Syndrome
Fused cervical vertebrae, Aplasia/Hypoplasia of the patella, Scoliosis, Thrombocytopenia, Cervica... ORPHA:3320
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Joint dislocation, Thin ribs, Abnormal cervical curvature, Vertebral fusion, F... OMIM:312150
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Pectus carinatum, Scapular winging, Lumbar scoliosis, Overweight... OMIM:617796
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Generalized joint hypermobility, Cervical C2/C3 vertebral fusion, Shoulder dislocatio... OMIM:618000
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in tendon tissue, Scoliosis, Ectopic ossification in ligament tissue, Ectopi... OMIM:135100
Multiple Pterygium Syndrome, Escobar Variant
Dislocated radial head, Kyphosis, Hip dislocation, Axillary pterygium, Long clavicles, Pterygium,... OMIM:265000
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology, Abnormality of the... ORPHA:2234
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Narrow chest, Abnormal form of the vertebral bodies, Sco... ORPHA:2635
Ring Chromosome 21 Syndrome
Scoliosis, Thoracic hemivertebrae, Abnormal thorax morphology, Fused thoracic vertebrae ORPHA:1445
Waardenburg Syndrome, Type 1
Premature graying of hair, Heterochromia iridis, Synophrys, White forelock, Sprengel anomaly, Sup... OMIM:193500
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Scoliosis, Pectus excavatum, Kyphosis, Multiple prenatal fractur... OMIM:259440
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Thin ribs, Abnormal cervical curvature, Vertebral fusion, F... OMIM:253290
Spondylometaphyseal Dysplasia, Axial
Narrow chest, Scoliosis, Anterior rib cupping, Thoracic hypoplasia, Splenomegaly, Platyspondyly OMIM:602271
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Overweight, Cervical C2/C3 vertebral fusion ORPHA:370010
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Decreased body weight, Bone marrow hypocellularity, Short neck, Neutrop... OMIM:609053
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Fused cervical vertebrae, Spina bifida occulta, Pectus excavatum, Sprengel a... OMIM:619227
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Hemivertebrae,... OMIM:113000
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Cubitus valgus, Vertebral segmentation defect, Synostosis of carpal bones, Abn... ORPHA:1836
Gorlin Syndrome
Basal cell carcinoma, Abnormal vertebral morphology, Odontogenic keratocysts of the jaw, Vertebra... ORPHA:377
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Scoliosis, Short ribs, Irregular chondrocostal junctions, Slender build, Irre... OMIM:187760
Basal Cell Nevus Syndrome 1
Kyphoscoliosis, Cardiac rhabdomyoma, Abnormal sternum morphology, Hamartomatous stomach polyps, S... OMIM:109400
Stapes Ankylosis With Broad Thumbs And Toes
Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae OMIM:184460
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends, Limitation of joint mobility ORPHA:168555
Keratoconus Posticus Circumscriptus
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion OMIM:244600
Spondylometaphyseal Dysplasia, Type A4
Costochondral joint sclerosis, Enlargement of the costochondral junction, Pectus carinatum, Osteo... OMIM:609052
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Pectus carin... ORPHA:93315
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Joint hypermobility, Cervical C2/C3 vertebral fusion, Camptodactyly OMIM:617333
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormality of the spleen, Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Atelosteogenesis, Type I
Long clavicles, Thoracic platyspondyly, Fused cervical vertebrae, 11 pairs of ribs, Bell-shaped t... OMIM:108720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Elbow contracture, Vertebral fusion OMIM:606612
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy, Weight loss ORPHA:52416
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Multiple joint dislocation, Carpal bone hypoplasia, Platyspondyly, Dislocated radial head, Delaye... OMIM:618395
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short neck, Vertebral segmentation defect, Abnormal rib morphology ORPHA:2578
Metatropic Dysplasia
Kyphoscoliosis, Relatively short spine, Short ribs, Flat acetabular roof, Long coccyx, Kyphosis, ... OMIM:156530
Mosaic Trisomy 20
Fused cervical vertebrae, Narrow chest, Scoliosis, Vertebral segmentation defect, Kyphosis, Spina... ORPHA:1724
Chromosome 8Q22.1 Duplication Syndrome
Cubitus valgus, Cervical C2/C3 vertebral fusion, Genu recurvatum, Limitation of joint mobility, J... OMIM:151200
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Kyphosis, Osteoporosis, Platyspondyly, Al... ORPHA:2786
Verheij Syndrome
Scoliosis, Hemivertebrae, Joint hypermobility, Short neck, Hip dislocation, Small for gestational... OMIM:615583
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs, Joint hypermobility, Bowing of limbs due to multiple fractur... OMIM:615220
Becker Nevus Syndrome
Lipoatrophy, Hypermelanotic macule, Spina bifida occulta, Pectus carinatum, Scoliosis, Pectus exc... ORPHA:64755
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Hepatomegaly, Splenomegaly OMIM:619175
Aarskog-Scott Syndrome
Genu recurvatum, Pectus excavatum, Camptodactyly of finger, Joint hypermobility, Short neck, Abno... ORPHA:915
Mosaic Trisomy 14
Narrow chest, Abnormal rib morphology, Camptodactyly of finger, Failure to thrive, Short neck ORPHA:1703
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal carpal morphology, Genu valgum, Pectus carinatum, Limitation of joint mobility, Synostos... ORPHA:93351
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Fused cervical vertebrae, Flat acetabular roof, Short clavicles OMIM:617159
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Poland Syndrome
Short ribs, Sprengel anomaly, Hemivertebrae, Rib fusion OMIM:173800
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Hemivertebrae, Kyphosis, Hypoplastic vertebral ... ORPHA:2916
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:607155
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti... OMIM:271650
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Scoliosis, Osteoporosis, Kyphosis, Accelerated skeletal maturation OMIM:617190
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Limitation of joint mobility, Synostosis of carpal bones, Elbow d... ORPHA:90650
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Acetabular spurs, Trident acetabulum, Horizontal... OMIM:617405
Diastrophic Dysplasia
Abnormal clavicle morphology, Joint dislocation, Abnormal form of the vertebral bodies, Increased... ORPHA:628
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Narrow chest, Decreased skull ossification, Abnormal rib morphology... ORPHA:93267
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Hemivertebrae, Abnormal rib morphology, Sprenge... ORPHA:2180
Frontometaphyseal Dysplasia
Limited elbow movement, Limitation of knee mobility, Fused cervical vertebrae, Spina bifida occul... ORPHA:1826
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Childhood-onset truncal obesity, Hyperinsulinemia, Red hair, Increased adi... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Childhood-onset truncal obesity, Hyperinsulinemia, Red hair, Increased adi... ORPHA:71526
Lethal Congenital Contracture Syndrome Type 1
Abnormal form of the vertebral bodies, Limitation of joint mobility, Abnormal rib morphology, Abn... ORPHA:1486
Spondylocarpotarsal Synostosis Syndrome
Limited elbow extension, Tarsal synostosis, Pectus carinatum, Scoliosis, Hyperlordosis, Vertebral... OMIM:272460
Caudal Regression Syndrome
Aplasia/Hypoplasia of the sacrum, Scoliosis, Missing ribs, Joint stiffness, Hypoplastic vertebral... ORPHA:3027
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Becker Nevus Syndrome
Scoliosis, Hemivertebrae, Pectus excavatum, Cervical ribs OMIM:604919
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Highly arched eyebrow, Pectus excavatum, Low posterior hairline, Joint hypermobility, Craniosynos... OMIM:213980
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Narrow chest, Scoliosis, Delayed ossification of... ORPHA:168549
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Generalized lipodystrophy, Cubitus valgus, Genu valgum, Congenital generalized lipody... OMIM:608154
Thrombocytopenia-Absent Radius Syndrome
Lateral clavicle hook, Carpal bone hypoplasia, Abnormal shoulder morphology, Fused cervical verte... OMIM:274000
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Beaking of vertebral bodies, Scoliosis, Delayed ossification of carpal bones, Flat acetabular roo... OMIM:609616
White Forelock With Malformations
Spina bifida occulta, Abnormal rib morphology, White forelock, Delayed skeletal maturation, Spren... ORPHA:2475
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Platyspondyly, Bell-shaped thorax, Small for gestational age, Th... OMIM:166210
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Abnormal rib morphology ORPHA:280195
Fibrochondrogenesis 2
Bell-shaped thorax, Short ribs, Cupped ribs, Thoracic hypoplasia, Platyspondyly OMIM:614524
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Spina bifida occulta, Abnormal form of the vertebral bod... ORPHA:2311
3Q29 Microdeletion Syndrome
Pectus carinatum, Pectus excavatum, Six lumbar vertebrae, Failure to thrive, Abnormality of skin ... ORPHA:65286
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Fused cervical vertebrae, B lymphocytopenia, Thin ribs, Cleft vertebral arch, Cor... ORPHA:83617
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypoglycemia, Hypercholestero... OMIM:232700
Grant Syndrome
Joint dislocation, Narrow chest, Wormian bones, Decreased skull ossification, Abnormal rib morpho... ORPHA:2097
Larsen Syndrome
Beaking of vertebral bodies, Multiple carpal ossification centers, Spondylolysis, Spina bifida oc... OMIM:150250
Arnold-Chiari Malformation Type I
Stiff neck, Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Anteriorly plac... ORPHA:268882
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Shoulder subluxation, Fused cervical vertebrae, Thoracic kyphosis, Hypermobility of interphalange... ORPHA:508498
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Hemivertebrae, Missing ribs, Abnormal rib morphology, Join... ORPHA:2759
Juberg-Hayward Syndrome
Abnormality of the wrist, Abnormal vertebral morphology, Scoliosis, Abnormal rib morphology, Radi... ORPHA:2319
Lateral Meningocele Syndrome
Scoliosis, Wormian bones, Pectus excavatum, Kyphosis, Biconcave vertebral bodies, Sclerosis of sk... OMIM:130720
Hypophosphatasia
Anemia, Narrow chest, Abnormal rib morphology, Failure to thrive in infancy, Craniosynostosis, Re... ORPHA:436
Mucopolysaccharidosis Type 6
Genu valgum, Kyphosis, Joint stiffness, Failure to thrive, Ovoid vertebral bodies, Splenomegaly, ... ORPHA:583
Femoral-Facial Syndrome
Scoliosis, Vertebral segmentation defect, Abnormal rib morphology, Rib fusion, Sprengel anomaly, ... ORPHA:1988
Immunodeficiency 104
Hepatomegaly, Failure to thrive secondary to recurrent infections, Lymphadenopathy, T lymphocytop... OMIM:608971
Dyggve-Melchior-Clausen Disease
Limited elbow extension, Beaking of vertebral bodies, Genu valgum, Abnormality of the vertebral c... ORPHA:239
Mucopolysaccharidosis Type 4
Reduced bone mineral density, Genu valgum, Platyspondyly, Joint dislocation, Short thorax, Pectus... ORPHA:582
Mucopolysaccharidosis, Type Iiia
Dense calvaria, Scoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Splenomegaly, Thickene... OMIM:252900
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Joint hypermobility, Hypoplastic distal segments of scapulae, Pectus excavatum, Abnormal rib morp... OMIM:602196
Postaxial Acrofacial Dysostosis
Pectus excavatum, Congenital hip dislocation, Radioulnar synostosis, Supernumerary nipple, Supern... OMIM:263750
Koolen-De Vries Syndrome
Scoliosis, Vertebral segmentation defect, Pectus excavatum, Kyphosis, Joint hypermobility, Hip di... ORPHA:96169
Mucopolysaccharidosis, Type Iva
Genu valgum, Lumbar kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Pectus carinat... OMIM:253000
Microphthalmia, Syndromic 3
Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Hypothalamic hamartoma, Missing ribs, S... OMIM:206900
Aicardi Syndrome
Butterfly vertebrae, Lipoma, Carcinoma, Metastatic angiosarcoma, Scoliosis, Hemivertebrae, Terato... OMIM:304050
Chops Syndrome
Splenomegaly, Cervical C2/C3 vertebral fusion, Obesity, Tracheomalacia OMIM:616368
Shwachman-Diamond Syndrome 1
Enlargement of the costochondral junction, Acute myeloid leukemia, Narrow chest, Pancytopenia, An... OMIM:260400
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Platyspondyly, Vertebral compression fracture, Narrow chest, Small for gestational ag... OMIM:616229
Duane-Radial Ray Syndrome
Shoulder dislocation, Scoliosis, Fused cervical vertebrae, Spina bifida occulta OMIM:607323
Mucopolysaccharidosis, Type Iiib
Dense calvaria, Joint stiffness, Ovoid thoracolumbar vertebrae, Splenomegaly, Thickened ribs OMIM:252920
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Microcephalic Primordial Dwarfism, Toriello Type
Delayed skeletal maturation, Abnormal rib morphology, Neutropenia ORPHA:2643
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Fusion of middle ear ossicles, Delayed sk... OMIM:157800
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Apert Syndrome
Limited elbow movement, Lambdoidal craniosynostosis, Delayed epiphyseal ossification, Pectus cari... OMIM:101200
Mucopolysaccharidosis, Type Iiic
Kyphoscoliosis, Beaking of vertebral bodies, Dense calvaria, Hirsutism, Synophrys, Joint stiffnes... OMIM:252930
Koolen-De Vries Syndrome
Sacral dimple, Spondylolisthesis, Scoliosis, Pectus excavatum, Kyphosis, Prominent metopic ridge,... OMIM:610443
Achondrogenesis Type 1B
Narrow chest, Short thorax, Abnormal rib morphology, Abnormal enchondral ossification, Short neck ORPHA:93298
Spondylometaphyseal Dysplasia, Kozlowski Type
Kyphoscoliosis, Carpal bone hypoplasia, Pectus carinatum, Delayed ossification of carpal bones, S... OMIM:184252
Thakker-Donnai Syndrome
Short neck, Hemivertebrae, Cervical C2/C3 vertebral fusion ORPHA:1780
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Narrow chest, Increased bone mineral density, Scoliosis, Synostosis of carpal ... ORPHA:90652
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Obesity, Thoracic dysplasia, Horizontal ... OMIM:615633
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:607624
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Failure to thrive, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... ORPHA:894
Holt-Oram Syndrome
Abnormal clavicle morphology, Scoliosis, Pectus excavatum, Kyphosis, Abnormal rib morphology, Joi... ORPHA:392
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal hair morphology, Slow-growing hair, Pectus carinatum, Uncombable hair, Abnormal rib morp... ORPHA:3082
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Vacuolated lymphocytes, Scoliosis, Kyphosis, Joint stiffness, Hypopl... OMIM:230500
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Genu valgum, Delayed pubic bone ossification, Pectus carinatum, Scoliosis, Hyperlordosis, Hypopla... OMIM:184250
Infantile-Onset X-Linked Spinal Muscular Atrophy
Kyphoscoliosis, Ankle flexion contracture, Elbow flexion contracture, Short ribs, Cupped ribs, In... ORPHA:1145
Frontometaphyseal Dysplasia 2
Fused cervical vertebrae, Dislocated radial head, Scoliosis, Pectus excavatum, Camptodactyly, Con... OMIM:617137
Craniodiaphyseal Dysplasia
Abnormal rib morphology ORPHA:1513
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukope... OMIM:615285
Kbg Syndrome
Thoracic kyphosis, Rib fusion, Delayed skeletal maturation, Cervical ribs, Short neck, Vertebral ... OMIM:148050
Renpenning Syndrome
Cachexia, Pectus excavatum, Abnormal rib morphology, Joint stiffness, Sprengel anomaly, Thin eyeb... ORPHA:3242
Osteogenesis Imperfecta, Type Iii
Scoliosis, Thin ribs, Kyphosis, Biconcave vertebral bodies, Multiple prenatal fractures, Protrusi... OMIM:259420
Alkaptonuria
Limitation of knee mobility, Intervertebral disk degeneration, Arthritis, Arthropathy, Kyphosis, ... OMIM:203500
Cartilage-Hair Hypoplasia
Limited elbow extension, Basal cell carcinoma, Impaired lymphocyte transformation with phytohemag... OMIM:250250
Aicardi Syndrome
Butterfly vertebrae, Intestinal polyposis, Scoliosis, Missing ribs, Rib fusion, Supernumerary rib... ORPHA:50
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Apert Syndrome
Vertebral segmentation defect, Ovarian neoplasm, Cervical C5/C6 vertebrae fusion ORPHA:87
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Cerebrofaciothoracic Dysplasia
Bifid ribs, Narrow chest, Scoliosis, Hemivertebrae, Vertebral segmentation defect, Low posterior ... ORPHA:1394
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Flat acetabular roof, Pectus excavatum, Ovoid vertebral bodies, Thoracic... OMIM:608728
Prune Belly Syndrome
Scoliosis, Vertebral segmentation defect, Pectus excavatum, Abnormal rib morphology, Congenital h... ORPHA:2970
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Weight loss, Hepatomegaly ORPHA:79238
Axial Mesodermal Dysplasia Spectrum
Abnormal form of the vertebral bodies, Scoliosis, Vertebral segmentation defect, Abnormal rib mor... ORPHA:1834
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Genu valgum, Spatulate ribs, Broad clavicles, Scoliosis, Hyperlordos... OMIM:619698
Phaver Syndrome
Butterfly vertebrae, Pterygium, Abnormal form of the vertebral bodies, Abnormal rib morphology, J... ORPHA:2876
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly, Weight loss ORPHA:66661
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Wormian bones, Kyphosis, Abnormal rib morpholog... ORPHA:2050
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Cooper-Jabs Syndrome
Reduced bone mineral density, Scoliosis, Abnormal rib morphology, Missing ribs, Camptodactyly of ... ORPHA:1488
Schneckenbecken Dysplasia
Lateral clavicle hook, Narrow chest, Short ribs, Flat acetabular roof, Narrow vertebral interpedi... OMIM:269250
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Bell-shaped thorax, Vertebral compression fracture, Delayed epiphyseal ossificatio... OMIM:602557
Wolman Disease
Failure to thrive, Hepatomegaly, Splenomegaly OMIM:620151
Pseudoachondroplasia
Limited elbow extension, Beaking of vertebral bodies, Carpal bone hypoplasia, Genu valgum, Atlant... OMIM:177170
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Fibrochondrogenesis
Bell-shaped thorax, Narrow chest, Abnormal form of the vertebral bodies, Short ribs, Abnormal rib... ORPHA:2021
Osteogenesis Imperfecta, Type Xviii
Vertebral compression fracture, Thin ribs, Generalized osteoporosis, Biconcave vertebral bodies, ... OMIM:617952
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Cortical sclerosis, Thickened ribs, Diaphyseal sclerosis OMIM:122860
Achondrogenesis Type 1A
Narrow chest, Short thorax, Abnormal enchondral ossification, Multiple rib fractures, Short neck,... ORPHA:93299
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
3M Syndrome
Increased vertebral height, Abnormality of the elbow, Short thorax, Scoliosis, Hyperlordosis, Enl... ORPHA:2616
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Osteosclerosis of ribs, Obesity, Anterior rib cupping, Irregular v... ORPHA:174
Jeune Syndrome
Abnormal clavicle morphology, Narrow chest, Short thorax, Abnormal sternum morphology, Abnormal r... ORPHA:474
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Failure to thrive, Hepatosplenomegaly, Sple... OMIM:618963
Galactosemia Iii
Failure to thrive, Jaundice, Splenomegaly, Hepatomegaly OMIM:230350
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Narrow chest, Short thorax, Short clavicles, Sco... ORPHA:2484
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormal rib morphology, Abnormality of the vertebral column OMIM:601076
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy, Weight loss ORPHA:86893
Thanatophoric Dysplasia, Type Ii
Narrow chest, Wide-cupped costochondral junctions, Short ribs, Small abnormally formed scapulae, ... OMIM:187601
Faciodigitogenital Syndrome, Autosomal Recessive
Pectus excavatum, Camptodactyly, Abnormal rib cage morphology, Hyperextensible hand joints, Down-... OMIM:227330
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Thin ribs, 11 pairs of ribs, Decreased skull ossification OMIM:300863
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Decreased cranial base ossification, Narrow chest, Thin ribs, Short ribs, Flat acetabular roof, W... OMIM:151210
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Pear-shaped vertebrae, Irregular sclerotic endplates, Delayed skeletal m... OMIM:602111
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Pancytopenia, Lymphocytosis, Lymphoma, Splenomegaly, Hemolytic anemia, Au... OMIM:614470
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs ORPHA:66630
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Joint hypermobility, Recurrent fractures, Abnormal rib morphology, Decreased calvarial ossification ORPHA:2772
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Three M Syndrome 2
Short thorax, Pectus carinatum, Thin ribs, Hyperlordosis, Scapular winging, Delayed skeletal matu... OMIM:612921
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Azoospermia, Infertility, Splenomegaly, Amenorrhea, Hypogonadotropic hyp... OMIM:602390
Lymphangiectasia, Intestinal
Prominent floating ribs, Lymphopenia OMIM:152800
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Cole-Carpenter Syndrome 2
Osteopenia, Lambdoidal craniosynostosis, Platyspondyly, Thin ribs, Pectus excavatum, Kyphosis, Co... OMIM:616294
Simpson-Golabi-Behmel Syndrome
Scoliosis, Vertebral segmentation defect, Pectus excavatum, Abnormal rib morphology, Congenital h... ORPHA:373
Dyggve-Melchior-Clausen Disease
Multicentric ossification of proximal humeral epiphyses, Multicentric ossification of proximal fe... OMIM:223800
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count, Weight loss ORPHA:100024
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Platyspondyly, Small for gestational age, Short ribs, Decreased skull ossification, M... OMIM:616897
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Biliary tract abnormality, Failure to thrive, Splenomegaly, Ne... ORPHA:79301
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Thoracolumbar scoliosis, Sprengel anomaly, Autoimmune thrombocytopenia, Cervical ribs OMIM:601389
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Brachytelephalangic Chondrodysplasia Punctata
Butterfly vertebrae, Cervical spinal canal stenosis, Epiphyseal stippling of toe phalanges, Epiph... ORPHA:79345
Cantú Syndrome
Curly eyelashes, Narrow chest, Cuboid-shaped vertebral bodies, Low posterior hairline, Long eyela... ORPHA:1517
Cenani-Lenz Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Synostosis of carpal bones, Synostosis of joint... ORPHA:3258
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme... ORPHA:33445
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Cholestasis, Failure to thrive, Splenomegaly ORPHA:172
Achondrogenesis, Type Ia
Hypoplastic sacrum, Bell-shaped thorax, Unossified vertebral bodies, Barrel-shaped chest, Short t... OMIM:200600
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Failure to thrive, Spleno... OMIM:617514
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Sple... OMIM:269840
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia, Red hair OMIM:620195
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Spinal canal stenosis, Obesity, Advanced ossification of carpal bones, Diabetes mellitu... OMIM:614613
Monosomy 9Q22.3
Large for gestational age, Rhabdomyosarcoma, Basal cell carcinoma, Abnormality of the vertebral c... ORPHA:77301
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Hyperlordosis, Limitation of joint mobility, Abnormal rib morphology, Delayed s... ORPHA:3068
Pontine Tegmental Cap Dysplasia
Ankle clonus, Scoliosis, Hemivertebrae, Failure to thrive, Rib fusion OMIM:614688
Garg-Mishra Progeroid Syndrome
Narrow chest, Thin ribs, Persistent open anterior fontanelle, Ovoid vertebral bodies, Platyspondyly OMIM:620601
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Sacral dimple, Dislocated radial head, Scoliosis, Hemivertebrae, Proximal/mid... OMIM:268310
Osteogenesis Imperfecta, Type X
Osteopenia, Genu valgum, Platyspondyly, Vertebral compression fracture, Narrow chest, Scoliosis, ... OMIM:613848
Mucopolysaccharidosis, Type Ivb
Genu valgum, Platyspondyly, Scoliosis, Hyperlordosis, Prominent sternum, Kyphosis, Osteoporosis, ... OMIM:253010
Myhre Syndrome
Enlarged vertebral pedicles, Limitation of joint mobility, Camptodactyly, Joint stiffness, Obesit... OMIM:139210
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Poland Syndrome
Finger symphalangism, Retinal hamartoma, Acute leukemia, Reduced bone mineral density, Spina bifi... ORPHA:2911
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Kyphoscoliosis, Platyspondyly, Thin ribs, Thoracic kyphosis, Prominent sternum, Delayed skeletal ... OMIM:300232
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Tracheobronchomalacia, Pectus excavatum, Camptodactyly, Cervical C5/C6 vertebrae f... OMIM:613458
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Limited elbow movement, Nail dystrophy, Joint stiffness, Pathologic fracture, Delaye... OMIM:614008
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Limited elbow extension, Thoracolumbar kyphosis, Genu valgum, Platyspondyly, Joint dislocation, H... OMIM:618019
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Secondary amenorrhea, Splenomegaly, Hypogonadism, Hepatic fibrosis OMIM:613313
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology, Splenomegaly, Weigh... ORPHA:545
Aspergillosis
Abnormality of the vertebral column, Abnormal rib morphology, Hematological neoplasm, Eosinophili... ORPHA:1163
Fibrochondrogenesis 1
Posterior rib cupping, Long clavicles, Thin clavicles, Widely patent coronal suture, Thin ribs, P... OMIM:228520
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Wolf-Hirschhorn Syndrome
Sacral dimple, Abnormal sternal ossification, Abnormal form of the vertebral bodies, Accessory sp... OMIM:194190
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Butterfly vertebrae, Osteopenia, Giant platelets, Anemia, Vertebral segmentation ... OMIM:611209
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Aplasia of the thymus, B... OMIM:102700
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Abnormality of the menstrual cycle ORPHA:721
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormal sacrum morphology, Vertebral segmentation defect, Vertebral fusion, Abnormal form of the... ORPHA:3109
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Dysosteosclerosis
Osteopenia, Clavicular sclerosis, Platyspondyly, Sclerotic scapulae, Narrow chest, Increased inte... OMIM:224300
Waardenburg Syndrome, Type 3
Premature graying of hair, Hypopigmented skin patches, Scapular winging, Heterochromia iridis, Sy... OMIM:148820
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Carpal bone hypoplasia, Genu valgum, Scoliosis, Short ribs, Cupped ribs, Flat glenoid fossa, Irre... OMIM:250420
Cartilage-Hair Hypoplasia
Limited elbow extension, Abnormal bone ossification, Biconvex vertebral bodies, Sacral dimple, An... ORPHA:175
Alagille Syndrome
Spina bifida occulta, Butterfly vertebral arch, Abnormal form of the vertebral bodies, Vertebral ... ORPHA:52
Osteogenesis Imperfecta, Type Viii
Osteopenia, Platyspondyly, Barrel-shaped chest, Vertebral compression fracture, Scoliosis, Wormia... OMIM:610915
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Th... ORPHA:958
Holzgreve Syndrome
Joint stiffness, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:2167
Greenberg Dysplasia
Short ribs, Decreased skull ossification, Multiple prenatal fractures, Bone marrow hypocellularit... OMIM:215140
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Failure to thrive, Splenomegaly, Acholic stools OMIM:619868
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Bell-shaped thorax, Normochromic anemia, Delayed skeletal maturation, Failure to thrive, Thromboc... OMIM:614857
Campomelia, Cumming Type
Abnormal rib morphology, Myelodysplasia, Abnormally ossified vertebrae, Abnormal thorax morphology ORPHA:1318
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Abnormal rib morphology ORPHA:1120
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Mosaic Trisomy 8
Narrow chest, Scoliosis, Vertebral segmentation defect, Limitation of joint mobility, Abnormal ri... ORPHA:96061
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... ORPHA:895
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Enlargement of the costochondral junction, Enlargement of the wrists, Bone pain, Enlarge... OMIM:600081
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Diabetic ketoacidosis, Fasting hypoglycemia, Hyperglycemia, Small for gestation... OMIM:262190
Mucopolysaccharidosis, Type Vii
Acetabular dysplasia, Genu valgum, Anterior beaking of lumbar vertebrae, Platyspondyly, Spatulate... OMIM:253220
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Decreased body weight, Decreased calvarial ossification, Craniosynostosis, Arthrogrypo... OMIM:618265
Kenny-Caffey Syndrome, Type 1
Long clavicles, Thin clavicles, Calvarial osteosclerosis, Anemia, Thin ribs, Decreased skull ossi... OMIM:244460
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Lethal Kniest-Like Dysplasia
Narrow chest, Short ribs, Hypoplastic vertebral bodies, Coronal cleft vertebrae, Anterior rib cup... ORPHA:2347
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:256710
Achondrogenesis, Type Ii
Short ribs, Barrel-shaped chest, Absent vertebral body mineralization, Horizontal ribs OMIM:200610
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Spondylolisthesis, Scoliosis, Short ribs, Limitation of joint mobility, K... OMIM:252600
Acute Monoblastic/Monocytic Leukemia
Ankle swelling, Cervical lymphadenopathy, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukoc... ORPHA:514
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy, Weight loss ORPHA:42642
Familial Osteodysplasia, Anderson Type
Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Aplastic clavicle, Abnormal rib morph... ORPHA:2769
Immunodeficiency 27A
Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Weight l... OMIM:209950
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Wormian bones, Vertebral arch anomaly, Broad ribs ORPHA:85184
Brittle Cornea Syndrome 1
Red hair, Spondylolisthesis, Scoliosis, Congenital hip dislocation, Dentinogenesis imperfecta, Jo... OMIM:229200
Waardenburg-Shah Syndrome
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... ORPHA:897
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Hepatic hemangioma, Abnormal bone ossification, Generalized bone demineralization, Narrow chest, ... ORPHA:73230
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hip subluxation, Abnormal vertebral morphology, Cervical C2/C3 vertebral fusion, Tracheomalacia, ... ORPHA:444077
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Hypophosphatemic rickets, Fused cervical vertebrae, Abnormal... ORPHA:51608
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Lethal Congenital Contracture Syndrome 5
Small for gestational age, Thin ribs, Flexion contracture, Congenital contracture OMIM:615368
Hurler Syndrome
Abnormal clavicle morphology, Abnormal vertebral morphology, Scoliosis, Limitation of joint mobil... ORPHA:93473
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Scoliosis, Failure to thrive, Obesity, Rib fusion, Craniosynostosis ORPHA:261197
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... ORPHA:2885
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Abnormal bone ossification, Loss of truncal subcutaneous adipose tissue, Lumbar hemiv... ORPHA:2463
Robinow Syndrome
Kyphoscoliosis, Scoliosis, Hemivertebrae, Missing ribs, Rib fusion, Fused thoracic vertebrae, Sma... ORPHA:97360
Kagami-Ogata Syndrome
Kyphoscoliosis, Long clavicles, Bell-shaped thorax, Thin ribs, Flexion contracture, Splenomegaly OMIM:608149
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Thin ribs ORPHA:163966
Meier-Gorlin Syndrome 1
Absent sternal ossification, Pectus carinatum, Short ribs, Delayed skeletal maturation, Joint hyp... OMIM:224690
Bent Bone Dysplasia Syndrome 2
Osteopenia, Butterfly vertebrae, Hypoplastic acetabulae, Thin ribs, Short ribs, Decreased calvari... OMIM:620076
Trisomy 13
Narrow chest, Capillary hemangioma, Scoliosis, Abnormal rib morphology, Kyphosis ORPHA:3378
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots, Failure to thri... ORPHA:100
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Abnormal rib morphology ORPHA:2145
Cleidocranial Dysplasia
Genu valgum, Spina bifida occulta, Narrow chest, Short clavicles, Scoliosis, Decreased skull ossi... ORPHA:1452
X-Linked Hypophosphatemia
Rickets, Reduced bone mineral density, Genu valgum, Vertebral hyperostosis, Enlargement of the co... ORPHA:89936
Woolly Hair Nevus
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat... ORPHA:79414
Autosomal Recessive Multiple Pterygium Syndrome
Popliteal pterygium, Axillary pterygium, Multiple pterygia, Spina bifida occulta, Pterygium, Abno... ORPHA:2990
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Enlargement of the costochondral junction, Enlargement of the wrists, Bone pain, Enlarge... ORPHA:289157
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Decreased body weight, Flexion contracture OMIM:614833
Antley-Bixler Syndrome
Narrow chest, Delayed cranial suture closure, Abnormal rib morphology, Joint stiffness, Camptodac... ORPHA:83
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Occipital Horn Syndrome
Limited elbow extension, Genu valgum, Platyspondyly, Narrow chest, Pectus carinatum, Broad clavic... OMIM:304150
Craniometadiaphyseal Dysplasia
Osteopenia, Genu valgum, Cubitus valgus, Scoliosis, Wormian bones, Broad ribs, Sclerosis of skull... OMIM:269300
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he... OMIM:615234
Gracile Bone Dysplasia
Thin ribs, Decreased skull ossification, Asplenia, Failure to thrive, Hypoplastic spleen OMIM:602361
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:169154
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion, Pectus excavatum OMIM:211380
Cog1-Cdg
Kyphoscoliosis, Butterfly vertebrae, Osteopenia, Vertebral segmentation defect, Flat acetabular r... ORPHA:263508
Schwartz-Jampel Syndrome
Spinal rigidity, Flexion contracture of toe, Pectus carinatum, Cachexia, Hyperlordosis, Wrist fle... ORPHA:800
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Failure to thrive, Splenomegaly, Decr... OMIM:618495
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Obesity, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Mucopolysaccharidosis, Type Vi
Kyphoscoliosis, Genu valgum, Anterior wedging of L2, Avascular necrosis, Hypoplastic acetabulae, ... OMIM:253200
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Abnormal rib morphology, Delayed skeletal maturation, Accelerated skeletal maturati... ORPHA:93317
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly OMIM:615085
Duane Retraction Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Spina bifida occulta, Abnormal form of t... ORPHA:233
Autosomal Recessive Kenny-Caffey Syndrome
Thin clavicles, Calvarial osteosclerosis, Thin ribs, Delayed cranial suture closure, Decreased sk... ORPHA:93324
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Kyphoscoliosis, Dislocated radial head, Cupped ribs, Pathologic fracture, Joint hypermobility, Hi... OMIM:271640
Vacterl/Vater Association
Abnormal intervertebral disk morphology, Vertebral segmentation defect, Abnormal rib morphology, ... ORPHA:887
Radio-Renal Syndrome
Abnormality of the elbow, Short neck, Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:3015
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large for gestational age, Omphalocele, Coat hanger sign of ribs, Thoracic hypoplasia, Umbilical ... ORPHA:254534
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Oculocerebrocutaneous Syndrome
Hypopigmented skin patches, Congenital diaphragmatic hernia, Missing ribs, Abnormal rib morpholog... ORPHA:1647
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Lethal Congenital Contracture Syndrome 10
Stiff neck, Narrow chest, Hypoplasia of the thymus, Thoracic scoliosis, Short neck, Broad ribs OMIM:617022
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Absent peripheral lymph nodes in presence of infection, Increased B cell count, Incre... ORPHA:98813
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Failure to thrive, Splenomegaly, Hype... OMIM:615387
Wilson Disease
Cirrhosis, Jaundice, Hepatomegaly, Anemia, Acute hepatitis, Increased body weight, Hepatitis, Fai... ORPHA:905
Fibrous Dysplasia Of Bone
Rickets, Abnormal clavicle morphology, Thyroid carcinoma, Bone pain, Abnormal lumbar spine morpho... ORPHA:249
Spondylometaphyseal Dysplasia, Algerian Type
Kyphoscoliosis, Carpal bone hypoplasia, Genu valgum, Anterior rib cupping, Platyspondyly, Lumbar ... OMIM:184253
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Tetraamelia-Multiple Malformations Syndrome
Missing ribs, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3301
Acromesomelic Dysplasia 4
Beaking of vertebral bodies, Genu valgum, Enlargement of the costochondral junction, Prominent st... OMIM:619636
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Inguinal hernia, Pectus carinatum, Scoliosis, Short ribs, Verteb... OMIM:312870
Xylt1-Cdg
Joint dislocation, Short clavicles, Hirsutism, Synophrys, Accelerated skeletal maturation, Joint ... ORPHA:370930
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Omphalocele, Thoracic hypoplasia, Horizontal ribs OMIM:617895
Congenital Myopathy 22B, Severe Fetal
Spinal rigidity, Shoulder flexion contracture, Scoliosis, Elbow flexion contracture, Thin ribs, P... OMIM:620369
Incontinentia Pigmenti
Nail dysplasia, Breast hypoplasia, Nail dystrophy, Kyphoscoliosis, Scarring, Ridged nail, Breast ... OMIM:308300
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Ascites, Impotence, Testicular at... OMIM:235200
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Splenomegaly, Portal hypertension OMIM:617068
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Multiple Pterygium-Malignant Hyperthermia Syndrome
Capillary hemangioma, Scoliosis, Pectus excavatum, Kyphosis, Prominent metopic ridge, Abnormal ri... ORPHA:2215
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Joint hypermobility, Thin ribs ORPHA:456328
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Kagami-Ogata Syndrome
Kyphoscoliosis, Large for gestational age, Bell-shaped thorax, Limitation of joint mobility, Coat... ORPHA:254519
Shprintzen-Goldberg Craniosynostosis Syndrome
Lateral clavicle hook, Osteopenia, Genu valgum, Inguinal hernia, C1-C2 vertebral abnormality, Pec... OMIM:182212
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Vertebral fusion ORPHA:959
Squalene Synthase Deficiency
Elbow flexion contracture, Abnormality of hair pigmentation, Knee flexion contracture, Failure to... OMIM:618156
Osteogenesis Imperfecta
Reduced bone mineral density, Abnormal form of the vertebral bodies, Dislocated radial head, Pect... ORPHA:666
Primary Myelofibrosis
Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Cachexia, Leukocytosis, Port... ORPHA:824
Mucopolysaccharidosis, Type Iiid
Elbow flexion contracture, Joint stiffness, Ovoid thoracolumbar vertebrae, Hypoplastic vertebral ... OMIM:252940
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal lymph node mo... ORPHA:911
Heterotaxy, Visceral, 1, X-Linked
Asplenia, Congenital hip dislocation, Failure to thrive, Block vertebrae, Absence of the sacrum, ... OMIM:306955
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Obesity, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411515
Kyphomelic Dysplasia
Lateral clavicle hook, Pterygium, Limitation of joint mobility, Flat acetabular roof, Undulate ri... OMIM:211350
Premature Aging Syndrome, Penttinen Type
Lipoatrophy, Recurrent fractures, Scoliosis, Thin ribs, Delayed cranial suture closure, Osteolyti... OMIM:601812
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Hyperlipidemia, Iris hypopigmentation, Parti... ORPHA:79477
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Pyknoachondrogenesis
Short thorax, Short ribs, Enlarged thorax, Abnormal intramembranous ossification, Unossified sacr... ORPHA:3003
Acquired Hypertrichosis Lanuginosa
Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, Weight loss, Fine hair ORPHA:2221
Severe Congenital Nemaline Myopathy
Thin ribs, Multiple prenatal fractures, Flexion contracture, Increased connective tissue, Arthrog... ORPHA:171430
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Inguinal hernia, Prominent sternum, Wrist flexion contracture, Pectus excavatum, Camptodactyly, O... ORPHA:254528
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Anemia of inadequate production, Failure to thrive, Exocrine pancreatic i... OMIM:612714
Autosomal Dominant Popliteal Pterygium Syndrome
Joint stiffness, Popliteal pterygium, Scoliosis, Abnormal rib morphology ORPHA:1300
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Short ribs, Abnormal rib morphology, Supernumerary nipple, Broad ribs ORPHA:2519
Muenke Syndrome
Hypopigmented skin patches, Hypermelanotic macule, Tarsal synostosis, Hypopigmentation of hair, C... ORPHA:53271
Menkes Disease
Tarsal synostosis, Narrow chest, Hypopigmentation of hair, Inguinal hernia, Wormian bones, Pectus... ORPHA:565
Lenz-Majewski Hyperostotic Dwarfism
Spina bifida occulta, Hyperextensibility of the finger joints, Delayed cranial suture closure, He... OMIM:151050
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hypogo... ORPHA:848
Holt-Oram Syndrome
Limited elbow extension, Abnormal carpal morphology, Sacral dimple, Cervical C2/C3 vertebral fusi... OMIM:142900
Osteogenesis Imperfecta, Type Vii
Osteopenia, Vertebral compression fracture, Narrow chest, Delayed cranial suture closure, Scolios... OMIM:610682
Wolman Disease
Hepatomegaly, Anemia, Cachexia, Bone-marrow foam cells, Ascites, Splenomegaly ORPHA:75233
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Failure to thrive, Neutrophilia, Thrombocytopenia, Splenomeg... OMIM:226990
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Dextrocardia
Neuroblastoma, Abnormality of the spleen, Abnormal rib morphology, Congenital hip dislocation ORPHA:1666
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Large for gestational age, Sacral dimple, Inguinal hernia, Small nail, Absent eyelashes, Sparse s... ORPHA:544488
Trisomy 1Q
Congenital diaphragmatic hernia, Short thorax, Abnormal rib morphology, Omphalocele, Camptodactyl... ORPHA:261344
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Obesity, Decreased circulating cortisol level, Red hair OMIM:609734
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... ORPHA:79435
Sclerosteosis 1
Broad clavicles, Sclerotic scapulae, Sclerotic vertebral endplates, Broad ribs OMIM:269500
Acrorenal-Mandibular Syndrome
Kyphoscoliosis, Butterfly vertebrae, Narrow chest, Thin ribs, Hemivertebrae, Elbow flexion contra... OMIM:200980
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:614072
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Scoliosis, Short ribs, Acetabular spurs, Thoracic hypoplasia, Horizontal r... OMIM:613091
Cholestasis, Progressive Familial Intrahepatic, 9