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
increased lean body mass Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 3.84×10-06
vertebral fusion Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 3.72×10-05
abnormal rib morphology Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 3.31×10-08
decreased body length Ppp5ctm1a(EUCOMM)Wtsi HOM   Early adult 9.28×10-10
abnormal coat/hair pigmentation Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 1.28×10-06
decreased circulating triglyceride level Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 1.15×10-11
decreased circulating glucose level Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 8.76×10-08
increased thoracic vertebrae number Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 3.85×10-06
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 lumbar vertebrae number Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 2.27×10-06

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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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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

10 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
Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis OMIM:613702
Isolated Klippel-Feil Syndrome
Abnormal sacrum morphology, Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short n... ORPHA:2345
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Short neck, Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion OMIM:214300
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Kyphoscoliosis, Shor... OMIM:277300
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Posterior... OMIM:122600
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Fused cervical vertebrae, Pectus excavatum, Short neck, Abnormal clavicl... ORPHA:2522
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Radioulnar synostosis, Delayed skeletal maturation, Scoliosis, Abnormal... ORPHA:3268
Chondrocalcinosis Due To Apatite Crystal Deposition
Chondrocalcinosis, Arthropathy, Osteoarthritis of the small joints of the hand, Costal cartilage ... OMIM:118610
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Abnor... ORPHA:66637
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... OMIM:606842
Cervical Rib
Cervical ribs OMIM:117900
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Broad ribs, Osteomyelitis, Fused cervical vertebrae, Neutrophilia, Osteolysis, Osteopenia, Joint ... OMIM:612852
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Abnormal sacrum morphology ORPHA:1436
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, Short neck, Scoliosis, Tars... OMIM:618469
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Prominent metopic ridge OMIM:309620
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Irregular hyperpigmentation, Melanocytic nevus, Hypopigmented skin patches ORPHA:2435
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Vertebral segmentation defect, Vertebral fusion, Short thorax OMIM:618845
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short neck, Scoliosis, Abnormal rib... OMIM:118100
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Joint stiffness, Abn... ORPHA:2064
Asymmetric Short Stature Syndrome
Fused cervical vertebrae, Lumbar scoliosis OMIM:108450
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Kniest Dysplasia
Bell-shaped thorax, Short thorax, Delayed epiphyseal ossification, Arthropathy, Anterior vertebra... ORPHA:485
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral clefting, Vertebral segmentation defect, Short neck, Rib fusion, Hemivertebrae OMIM:608681
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Supernumerary verteb... OMIM:609813
Heart Defects-Limb Shortening Syndrome
Kyphosis, Accelerated skeletal maturation, Narrow chest, Abnormal rib morphology, Abnormal form o... ORPHA:1354
Kyphomelic Dysplasia
Short thorax, Anterior rib cupping, Missing ribs, Flat acetabular roof, Limitation of joint mobil... ORPHA:1801
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Clavicular sclerosis, Abnormal rib morphology, Sclerotic vertebral bo... ORPHA:2790
Spondylocostal Dysostosis 4, Autosomal Recessive
Bell-shaped thorax, Vertebral fusion, Short thorax, Block vertebrae, Vertebral segmentation defec... OMIM:613686
Lamb-Shaffer Syndrome
Thoracic kyphosis, Fused cervical vertebrae, Scoliosis ORPHA:530983
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Multiple Synostoses Syndrome 2
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... OMIM:610017
Vertebral Hypersegmentation And Orofacial Anomalies
Supernumerary ribs, Widow's peak, Supernumerary nipple, Pectus excavatum, Joint hypermobility, In... OMIM:619122
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Coat hanger sign of ribs, Wrist flexion contracture, Partial fusion of t... OMIM:305620
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Knee flexion contracture, Vertebral fusion, Hip contracture, Craniosynostosis, Multiple pterygia,... OMIM:178110
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Flexion contracture, Acetabular dysplasia, Short neck, Cervical C2/C3 ve... OMIM:616549
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Abnormality of the cervical spine, Glucose intolerance, Superior rib anomalies OMIM:307500
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Supernumerary vertebrae, Short ribs, Block vertebrae, Missing ribs, Inguinal he... OMIM:271520
Sprengel Deformity
Rib segmentation abnormalities, Spina bifida occulta, Cervical segmentation defect, Scoliosis, Sp... OMIM:184400
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short thorax, Vertebral segmentation defect, Missing ribs, Posterior rib fusion, A... ORPHA:1797
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Butterfly vertebrae, Thoracic kyphoscoliosis, Scoliosis, Pectus carinatum, Lumb... ORPHA:313892
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Patellar dislocation, Fused cervical vertebrae, Hip dislocation, Cervical ribs, Scoli... ORPHA:3320
Kbg Syndrome
Vertebral fusion, Thoracic kyphosis, Cervical ribs, Short neck, Delayed skeletal maturation, Scol... ORPHA:2332
Multiple Pterygium Syndrome, X-Linked
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... OMIM:312150
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in ligament tissue, Small cervical vertebral bodies, Hamartoma, Ectopic ossi... OMIM:135100
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Narrow chest, Long thorax, A... ORPHA:2635
Ehlers-Danlos Syndrome, Classic-Like, 2
Shoulder dislocation, Generalized joint laxity, Facet joint arthrosis, Hip dislocation, Joint hyp... OMIM:618000
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Short neck, Abnormal rib morphology, Abnormality of the humeroulnar joint, Hem... ORPHA:2234
Multiple Pterygium Syndrome, Escobar Variant
Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b... OMIM:265000
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... OMIM:214450
Waardenburg Syndrome, Type 1
Supernumerary vertebrae, Premature graying of hair, Synophrys, Supernumerary ribs, White eyelashe... OMIM:193500
Intellectual Developmental Disorder, Autosomal Dominant 52
Lumbar scoliosis, Small for gestational age, Overweight, Scapular winging, Pectus carinatum, Cerv... OMIM:617796
Multiple Pterygium Syndrome, Lethal Type
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... OMIM:253290
Ring Chromosome 21 Syndrome
Thoracic hemivertebrae, Abnormal thorax morphology, Scoliosis, Fused thoracic vertebrae ORPHA:1445
Osteogenesis Imperfecta, Type Ix
Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphosis, Pectus excavatum, Multi... OMIM:259440
Fanconi Anemia, Complementation Group I
Decreased body weight, Fused cervical vertebrae, Short neck, Bone marrow hypocellularity, Neutrop... OMIM:609053
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Overweight ORPHA:370010
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Vertebral segmentation defect, Synostosis of carpal bones, Tarsal synost... ORPHA:1836
Griscelli Syndrome, Type 3
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft OMIM:609227
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Thoracic hypoplasia, Scoliosis, Platyspondyly, Narrow chest, Splenomegaly OMIM:602271
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Bell-shaped thorax, Irregular vertebral endplates, Short ribs, Irregular chondro... OMIM:187760
Brachydactyly, Type B1
Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Delayed cranial suture closure, Jo... OMIM:113000
Spondylometaphyseal Dysplasia, A4 Type
Flared, irregular rib ends, Limitation of joint mobility, Platyspondyly ORPHA:168555
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Fused cervical vertebrae, Butterfly vertebrae, Pectus excavatum, Spina bifida occulta, Sprengel a... OMIM:619227
Spondylometaphyseal Dysplasia, Type A4
Enlargement of the costochondral junction, Osteoporotic tarsals, Flat acetabular roof, Ovoid vert... OMIM:609052
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Verheij Syndrome
Vertebral fusion, Hip dislocation, Short neck, Scoliosis, Hemivertebrae OMIM:615583
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral hypoplasia, Limb pain, Short neck, Ovoid vertebral bodies, Reduced bone mineral density... ORPHA:93315
Basal Cell Nevus Syndrome 1
Cardiac rhabdomyoma, Ovarian carcinoma, Ovarian fibroma, Vertebral fusion, Short ribs, Down-slopi... OMIM:109400
Keratoconus Posticus Circumscriptus
Abnormal vertebral segmentation and fusion, Short neck, Limited elbow extension and supination OMIM:244600
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormality of the spleen, Cachexia, Abnormal form of the vertebral bodies ORPHA:93941
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, Weight loss ORPHA:52416
Atelosteogenesis, Type I
11 pairs of ribs, Bell-shaped thorax, Thoracic hypoplasia, Vertebral hypoplasia, Fused cervical v... OMIM:108720
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Patellar dislocation, Multiple joint dislocation, Narrow vertebral... OMIM:618395
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Elbow contracture, Scoliosis OMIM:606612
Metatropic Dysplasia
Flexion contracture, Long coccyx, Delayed skeletal maturation, Enlarged joints, Arthrogryposis mu... OMIM:156530
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology, Vertebral segmentation defect, Short neck ORPHA:2578
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Fused cervical vertebrae, Vertebral segmentation defect, Spinal canal... ORPHA:1724
Gorlin Syndrome
Vertebral fusion, Vertebral wedging, Neoplasm, Scoliosis, Hemivertebrae ORPHA:377
Chromosome 8Q22.1 Duplication Syndrome
Limitation of joint mobility, Enlarged interphalangeal joints, Interphalangeal joint contracture ... OMIM:151200
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Kyphosis, Albinism, Hypopigmentation of hair, Platyspondyly, Osteop... ORPHA:2786
Osteogenesis Imperfecta, Type Xv
Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility, Scoliosis, P... OMIM:615220
Becker Nevus Syndrome
Kyphosis, Supernumerary ribs, Supernumerary nipple, Pectus excavatum, Spina bifida occulta, Hyper... ORPHA:64755
Spondyloepimetaphyseal Dysplasia, Irapa Type
Genu valgum, Abnormal carpal morphology, Synostosis of carpal bones, Limitation of joint mobility... ORPHA:93351
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Splenomegaly, Hepatomegaly OMIM:619175
Aarskog-Scott Syndrome
Camptodactyly of finger, Abnormality of the cervical spine, Pectus excavatum, Abnormal vertebral ... ORPHA:915
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Sifrim-Hitz-Weiss Syndrome
Short clavicles, Fused cervical vertebrae, Flat acetabular roof, Wormian bones OMIM:617159
Mosaic Trisomy 14
Camptodactyly of finger, Narrow chest, Failure to thrive, Short neck, Abnormal rib morphology ORPHA:1703
Poland Syndrome
Sprengel anomaly, Hemivertebrae, Rib fusion, Short ribs OMIM:173800
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Patellar dislocation, Kyphosis, Hypoplastic vertebral bodies, Elbow dislocation... ORPHA:2916
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral junction, Capitate-hamate fusio... OMIM:271650
Hidrotic Ectodermal Dysplasia
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... ORPHA:189
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Horizontal ribs, Short ribs, Lateral clavicle hook, Acetabular spurs, Narrow chest, Trident aceta... OMIM:617405
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Elbow d... ORPHA:90650
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Scoliosis, Abnormal rib morphology, Hemivertebrae, Obesity, Abnormal form of th... ORPHA:2180
Diastrophic Dysplasia
Camptodactyly of finger, Joint dislocation, Kyphosis, Increased bone mineral density, Visceral an... ORPHA:628
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Short neck, Decreased skull ossification, Platyspondy... ORPHA:93267
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:607155
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Kyphosis, Accelerated skeletal maturation, Scoliosis, Osteoporosis OMIM:617190
Lethal Congenital Contracture Syndrome Type 1
Abnormality of the elbow, Recurrent fractures, Limitation of joint mobility, Short neck, Abnormal... ORPHA:1486
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... ORPHA:42665
Becker Nevus Syndrome
Hemivertebrae, Pectus excavatum, Scoliosis, Cervical ribs OMIM:604919
Obesity Due To Prohormone Convertase I Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Hypopigmentation of ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Hypopigmentation of ... ORPHA:71526
Frontometaphyseal Dysplasia
Camptodactyly of finger, Wrist flexion contracture, Limited elbow movement, Joint contracture of ... ORPHA:1826
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Anterior vertebral fusion, Radioulnar synostosis, Elbow disloca... OMIM:171480
Caudal Regression Syndrome
Missing ribs, Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scoliosis... ORPHA:3027
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Type II diabetes mellitus, Insulin resistance, Abnormality of the nail, Fin... ORPHA:181393
Spondylocarpotarsal Synostosis Syndrome
Hyperlordosis, Vertebral fusion, C2-C3 subluxation, Capitate-hamate fusion, Block vertebrae, Vert... OMIM:272460
Axial Spondylometaphyseal Dysplasia
Flared, irregular rib ends, Thoracic hypoplasia, Short ribs, Posterior wedging of vertebral bodie... ORPHA:168549
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Anemia, Patellar dislocation, Patellar aplasia, Fused cervical vertebrae, Hip disloca... OMIM:274000
White Forelock With Malformations
Spina bifida occulta, White forelock, Delayed skeletal maturation, Joint hyperflexibility, Spreng... ORPHA:2475
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Synophrys, Supernumerary nipple, Pectus excavatum, Short neck, Beaking of vertebral bodies, Thick... OMIM:213980
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Flat acetabular roof, Delayed ossification of carpal bones, Cupped... OMIM:609616
Osteogenesis Imperfecta, Type Ii
Bell-shaped thorax, Thoracic hypoplasia, Recurrent fractures, Small for gestational age, Multiple... OMIM:166210
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive in in... OMIM:232700
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Short thorax, Kyphosis, Vertebral segmentation defect, Rib segmentation ... ORPHA:2311
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
B lymphocytopenia, Coronal craniosynostosis, Fused cervical vertebrae, Failure to thrive, Severe ... ORPHA:83617
Juberg-Hayward Syndrome
Abnormality of the elbow, Abnormality of the wrist, Abnormal vertebral morphology, Radioulnar syn... ORPHA:2319
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Joint hyperflexibility, Abnormal rib morphology, Hemivertebrae, Abnormal form of th... ORPHA:2759
Arnold-Chiari Malformation Type I
Stiff neck, Fused cervical vertebrae, Anteriorly placed odontoid process, Scoliosis, Cervical C2/... ORPHA:268882
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Grant Syndrome
Joint dislocation, Narrow chest, Abnormality of the glenoid fossa, Sprengel anomaly, Decreased sk... ORPHA:2097
Fibrochondrogenesis 2
Bell-shaped thorax, Thoracic hypoplasia, Short ribs, Cupped ribs, Platyspondyly OMIM:614524
Hypophosphatasia
Anemia, Recurrent fractures, Craniosynostosis, Narrow chest, Failure to thrive in infancy, Abnorm... ORPHA:436
Mucopolysaccharidosis Type 6
Genu valgum, Kyphosis, Failure to thrive, Short neck, Ovoid vertebral bodies, Joint stiffness, Br... ORPHA:583
Larsen Syndrome
Vertebral fusion, Spondylolysis, Accessory carpal bones, Cervical kyphosis, Hip dislocation, Join... OMIM:150250
Osteogenesis Imperfecta, Type Xvi
Recurrent fractures, Small for gestational age, Multiple rib fractures, Joint hypermobility, Oste... OMIM:616229
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Generalized joint laxity, Thoracic hemivertebrae, Fused cervical vertebra... ORPHA:508498
3Q29 Microdeletion Syndrome
Abnormality of skin pigmentation, Pectus excavatum, Failure to thrive, Joint hyperflexibility, Si... ORPHA:65286
Lateral Meningocele Syndrome
Biconcave vertebral bodies, Vertebral fusion, Kyphosis, Pectus excavatum, Joint hypermobility, Sh... OMIM:130720
Femoral-Facial Syndrome
Vertebral segmentation defect, Radioulnar synostosis, Abnormal sacrum morphology, Sprengel anomal... ORPHA:1988
Alkaptonuria
Vertebral fusion, Kyphosis, Arthropathy, Low back pain, Arthritis, Limited hip movement, Limited ... OMIM:203500
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Joint hypermobility, Hypoplastic distal segments of scapulae, Pectus exc... OMIM:602196
Koolen-De Vries Syndrome
Vertebral fusion, Kyphosis, Vertebral segmentation defect, Hip dislocation, Pectus excavatum, Sco... ORPHA:96169
Postaxial Acrofacial Dysostosis
Supernumerary vertebrae, Radioulnar synostosis, Supernumerary nipple, Pectus excavatum, Congenita... OMIM:263750
Mucopolysaccharidosis, Type Iiia
Ovoid thoracolumbar vertebrae, Thickened ribs, Synophrys, Dense calvaria, Inguinal hernia, Hirsut... OMIM:252900
Immunodeficiency 104
T lymphocytopenia, Lymphadenopathy, Failure to thrive secondary to recurrent infections, Hepatome... OMIM:608971
Mucopolysaccharidosis Type 4
Hyperlordosis, Genu valgum, Short thorax, Joint dislocation, Kyphosis, Spinal canal stenosis, Sho... ORPHA:582
Microphthalmia, Syndromic 3
Vertebral fusion, Vertebral hypoplasia, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Ri... OMIM:206900
Cardiospondylocarpofacial Syndrome
Fusion of middle ear ossicles, Fused cervical vertebrae, Carpal synostosis, Joint laxity, Joint h... OMIM:157800
Thanatophoric Dysplasia, Type Ii
Short ribs, Wide-cupped costochondral junctions, Platyspondyly, Narrow chest, Small abnormally fo... OMIM:187601
Aicardi Syndrome
Bifid ribs, Block vertebrae, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Hepatoblastom... OMIM:304050
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Neutropenia, Delayed skeletal maturation ORPHA:2643
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Irregular ossification at anterior rib ends, Anterior rib cupping... OMIM:260400
Achondrogenesis Type 1B
Short thorax, Abnormal enchondral ossification, Narrow chest, Short neck, Abnormal rib morphology ORPHA:93298
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Chops Syndrome
Tracheomalacia, Splenomegaly, Obesity, Cervical C2/C3 vertebral fusion OMIM:616368
Duane-Radial Ray Syndrome
Spina bifida occulta, Fused cervical vertebrae, Shoulder dislocation, Scoliosis OMIM:607323
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Thakker-Donnai Syndrome
Hemivertebrae, Short neck, Cervical C2/C3 vertebral fusion ORPHA:1780
Apert Syndrome
Delayed cranial suture closure, Sagittal craniosynostosis, Limited elbow movement, Humeroradial s... OMIM:101200
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral segmentation defect, Vertebral fusion, Abnormal form of the vertebral bodies, Abnormal ... ORPHA:3109
Mucopolysaccharidosis, Type Iiib
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Joint stiffness, Splenomegaly OMIM:252920
Gm1-Gangliosidosis, Type I
Thickened ribs, Kyphosis, Hypoplastic vertebral bodies, Short neck, Scoliosis, Beaking of vertebr... OMIM:230500
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Narrow chest, Increased bone mineral density, Synostosis of carpal bones... ORPHA:90652
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... OMIM:607624
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of the eyebrow, Kyphosis, Hernia of the abdominal wall, Short neck, Uncombable... ORPHA:3082
Waardenburg Syndrome Type 1
Premature graying of hair, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches,... ORPHA:894
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Failure to thrive, Hepatomegaly, Splenomegaly OMIM:614480
Mucopolysaccharidosis, Type Iva
Anterior beaking of lumbar vertebrae, Hyperlordosis, Genu valgum, Large elbow, Kyphosis, Prominen... OMIM:253000
Holt-Oram Syndrome
Kyphosis, Radioulnar synostosis, Down-sloping shoulders, Pectus excavatum, Sprengel anomaly, Abno... ORPHA:392
Mucopolysaccharidosis, Type Iiic
Ovoid thoracolumbar vertebrae, Thickened ribs, Hernia, Synophrys, Dense calvaria, Kyphoscoliosis,... OMIM:252930
Dyggve-Melchior-Clausen Disease
Genu valgum, Short thorax, Horizontal inferior border of scapula, Broad ribs, Hypoplastic acetabu... ORPHA:239
Infantile-Onset X-Linked Spinal Muscular Atrophy
Knee flexion contracture, Hip contracture, Short ribs, Elbow flexion contracture, Kyphoscoliosis,... ORPHA:1145
Craniodiaphyseal Dysplasia
Abnormal rib morphology ORPHA:1513
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Hyperlordosis, Genu valgum, Anterior rib cupping, Hypoplasia of the odontoid process, Scoliosis, ... OMIM:184250
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Bell-shaped thorax, Thoracic dysplasia, Lateral clavicle hook, Narrow chest, Obe... OMIM:615633
Cartilage-Hair Hypoplasia
Lymphoma, Anemia, Limited elbow extension, Prominent sternum, Narrow vertebral interpedicular dis... OMIM:250250
Immunodeficiency 48
Failure to thrive, Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly OMIM:269840
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Biconcave vertebral bodies, Bowing of limbs due to multiple fractures, Recur... OMIM:259420
Koolen-De Vries Syndrome
Sacral dimple, Vertebral fusion, Kyphosis, Small for gestational age, Hip dislocation, Pectus exc... OMIM:610443
Frontometaphyseal Dysplasia 2
Hip contracture, Fused cervical vertebrae, Camptodactyly, Elbow contracture, Pectus excavatum, Di... OMIM:617137
Kbg Syndrome
Vertebral arch anomaly, Vertebral fusion, Thoracic kyphosis, Cervical ribs, Short neck, Rib fusio... OMIM:148050
Renpenning Syndrome
Alopecia, Thin eyebrow, Cachexia, Pectus excavatum, Diabetes mellitus, Sprengel anomaly, Abnormal... ORPHA:3242
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Thoracic hypoplasia, Flat acetabular roof, Pectus excavatum, Posterior rib cupping, Ovoid vertebr... OMIM:608728
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Failure to thrive, Hepatomegaly, Extramedullary hematopoiesi... OMIM:615285
Apert Syndrome
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion, Ovarian neoplasm ORPHA:87
Aicardi Syndrome
Bifid ribs, Multiple lipomas, Block vertebrae, Supernumerary ribs, Missing ribs, Butterfly verteb... ORPHA:50
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Weight loss, Hepatomegaly ORPHA:79238
Prune Belly Syndrome
Vertebral segmentation defect, Pectus excavatum, Failure to thrive, Congenital hip dislocation, S... ORPHA:2970
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Severe platyspondyly, Cupped ribs, Ovoid vertebral bodies, Scoliosis, Platyspondyly, Joint stiffness OMIM:608940
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Vertebral segmentation defect, Missing ribs, Short neck, Scoliosis, Abno... ORPHA:1834
Mast Cell Sarcoma
Weight loss, Mastocytosis, Lymphadenopathy, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:66661
Mucopolysaccharidosis, Type X
Hyperlordosis, Genu valgum, Broad clavicles, Spatulate ribs, Scoliosis, Irregular acetabular roof... OMIM:619698
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Thrombocytosis, Leukocytosis, Spleno... OMIM:618963
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal rib morphology, Abnormally ossified vertebrae, Splenomegaly ORPHA:3035
Woolly Hair
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... ORPHA:170
Cerebrofaciothoracic Dysplasia
Bifid ribs, Hernia, Narrow chest, Vertebral segmentation defect, Synophrys, Short neck, Rib fusio... ORPHA:1394
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Pseudoachondroplasia
Genu varum, Genu valgum, Delayed epiphyseal ossification, Kyphosis, Ulnar deviation of the wrist,... OMIM:177170
Phaver Syndrome
Camptodactyly of finger, Pterygium, Butterfly vertebrae, Radioulnar synostosis, Abnormal rib morp... ORPHA:2876
Osteogenesis Imperfecta, Type Xviii
Biconcave vertebral bodies, Recurrent fractures, Joint laxity, Joint hypermobility, Generalized o... OMIM:617952
Cooper-Jabs Syndrome
Camptodactyly of finger, Missing ribs, Scoliosis, Joint hyperflexibility, Abnormal rib morphology... ORPHA:1488
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Spondyloepimetaphyseal Dysplasia, Shohat Type
Bell-shaped thorax, Genu varum, Delayed epiphyseal ossification, Vertebral hypoplasia, Short ribs... OMIM:602557
Achondrogenesis Type 1A
Short thorax, Recurrent fractures, Abnormal enchondral ossification, Multiple rib fractures, Shor... ORPHA:93299
Schneckenbecken Dysplasia
Thoracic hypoplasia, Anterior rib cupping, Advanced ossification of carpal bones, Short ribs, Nar... OMIM:269250
Fibrochondrogenesis
Camptodactyly of finger, Bell-shaped thorax, Broad ribs, Short ribs, Narrow chest, Short neck, Ab... ORPHA:2021
Jeune Syndrome
Abnormal sternum morphology, Short thorax, Narrow chest, Abnormality of retinal pigmentation, Abn... ORPHA:474
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Diaphyseal sclerosis, Thickened ribs, Cortical sclerosis OMIM:122860
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Irregular vertebral endplates, Anterior rib cupping, Abnormal... ORPHA:174
Cole-Carpenter Syndrome
Recurrent fractures, Kyphosis, Wormian bones, Scoliosis, Joint hyperflexibility, Abnormal rib mor... ORPHA:2050
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Weight loss, Hepatomegaly ORPHA:86893
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Melnick-Needles Syndrome
Delayed cranial suture closure, Osteolytic defects of the phalanges of the hand, Short thorax, Na... ORPHA:2484
3M Syndrome
Horizontal ribs, Hyperlordosis, Enlarged thorax, Short thorax, Increased vertebral height, Abnorm... ORPHA:2616
Spondyloepimetaphyseal Dysplasia, Missouri Type
Irregular sclerotic endplates, Flared, irregular rib ends, Genu varum, Pear-shaped vertebrae, Del... OMIM:602111
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Camptodactyly, Down-sloping shoulders, Abnormal rib cage morphology, Pectus exc... OMIM:227330
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Thin ribs, Decreased skull ossification, Platyspondyly OMIM:300863
Galactosemia Iii
Failure to thrive, Jaundice, Splenomegaly, Hepatomegaly OMIM:230350
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology, Joint hyperflexibility, Decreased calvarial ossification, Recurrent frac... ORPHA:2772
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs ORPHA:66630
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphoma, Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopeni... OMIM:614470
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thoracic hypoplasia, Severe platyspondyly, Short ribs, Decreased cranial base ossification, Flat ... OMIM:151210
Hemochromatosis, Type 2A
Cirrhosis, Infertility, Azoospermia, Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, A... OMIM:602390
Three M Syndrome 2
Hyperlordosis, Short thorax, Small for gestational age, Short neck, Delayed skeletal maturation, ... OMIM:612921
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Thoracic hypoplasia, Fractured radius, Short ribs, Small for gestational age... OMIM:616897
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Robinow Syndrome, Autosomal Recessive 1
Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Delayed cranial suture closure, Pr... OMIM:268310
Mu-Heavy Chain Disease
Anemia, Weight loss, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:100024
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:126070
Dyggve-Melchior-Clausen Disease
Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bodies, Lumbar hyperlordosis,... OMIM:223800
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Nephroblastoma, Vertebral fusion, Vertebral segmentation defect, Polyspl... ORPHA:373
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Lymphopenia, Autoi... OMIM:617514
Cenani-Lenz Syndrome
Synostosis of carpal bones, Hip dislocation, Radioulnar synostosis, Synostosis of joints, Elbow d... ORPHA:3258
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease, Failure to th... ORPHA:79301
Cole-Carpenter Syndrome 2
Recurrent fractures, Kyphosis, Coronal craniosynostosis, Pectus excavatum, Wide cranial sutures, ... OMIM:616294
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... ORPHA:33445
Lymphangiectasia, Intestinal
Prominent floating ribs, Lymphopenia OMIM:152800
Griscelli Syndrome Type 3
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79478
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Acute myelomonocytic leukemia, Low back pain, Lymphocytosis, Pancytopenia... ORPHA:86843
Cantú Syndrome
Cuboid-shaped vertebral bodies, Accelerated skeletal maturation, Long eyelashes, Generalized hirs... ORPHA:1517
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Achondrogenesis, Type Ia
Hypoplastic sacrum, Bell-shaped thorax, Short thorax, Short ribs, Broad clavicles, Narrow chest, ... OMIM:200600
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... OMIM:133180
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Thoracolumbar scoliosis, Sprengel anomaly, Autoimmune thrombocytopenia, Cervical ribs OMIM:601389
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Limitation of joint mobility, Delayed skeletal maturation, Abnormal rib morphology... ORPHA:3068
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Dentinogenesis imperfecta, Delayed closure of the anterior fontanelle, Increased susceptibility t... OMIM:604922
Uncombable Hair Syndrome
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology ORPHA:1410
Brachytelephalangic Chondrodysplasia Punctata
Epiphyseal stippling of toe phalanges, Vertebral hypoplasia, Stippling of the epiphyses of the di... ORPHA:79345
Hemochromatosis, Type 2B
Hepatic fibrosis, Anemia, Cirrhosis, Hypogonadism, Secondary amenorrhea, Hepatomegaly, Splenomegaly OMIM:613313
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Tracheobronchomalacia, Hip dislocation, Camptodactyly, Pectus excavatum, Short nec... OMIM:613458
Poland Syndrome
Abnormal sternum morphology, Kyphosis, Short ribs, Finger symphalangism, Vertebral segmentation d... ORPHA:2911
Progressive Familial Intrahepatic Cholestasis
Jaundice, Failure to thrive, Cholestasis, Hepatomegaly, Splenomegaly ORPHA:172
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:276422
Monosomy 9Q22.3
Nephroblastoma, Medulloblastoma, Odontogenic keratocysts of the jaw, Kyphosis, Accelerated skelet... ORPHA:77301
Hyperbilirubinemia, Shunt, Primary
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... OMIM:237800
Acrocapitofemoral Dysplasia
Genu varum, Short ribs, Delayed ossification of carpal bones, Pectus excavatum, Cupped ribs, Ovoi... OMIM:607778
Follicular Lymphoma
Weight loss, Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lymphadenopathy, Splenom... ORPHA:545
Fibrochondrogenesis 1
Thoracic hypoplasia, Thin clavicles, Anterior rib cupping, Short ribs, Joint contracture of the h... OMIM:228520
Acrodysostosis 2 With Or Without Hormone Resistance
Advanced ossification of carpal bones, Fair hair, Spinal canal stenosis, Diabetes mellitus, Blue ... OMIM:614613
Wolf-Hirschhorn Syndrome
Sacral dimple, Vertebral fusion, Kyphosis, Small for gestational age, Hip dislocation, Radioulnar... OMIM:194190
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Flexion contracture, Anterior rib cupping, Prominent sternum, Thoracic kyphosis, Hypoplasia of th... OMIM:300232
Dysosteosclerosis
Short sternum, Increased susceptibility to fractures, Delayed closure of the anterior fontanelle,... OMIM:224300
Pontine Tegmental Cap Dysplasia
Ankle clonus, Failure to thrive, Rib fusion, Scoliosis, Hemivertebrae OMIM:614688
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Horizontal inferior border of scapula, Anterior rib cupping, B lymphocytopenia, Lymphopenia, Auto... OMIM:102700
Myhre Syndrome
Vertebral fusion, Small for gestational age, Camptodactyly, Limitation of joint mobility, Enlarge... OMIM:139210
Osteogenesis Imperfecta, Type X
Genu valgum, Thoracic hypoplasia, Generalized joint laxity, Multiple rib fractures, Joint laxity,... OMIM:613848
Alpha-Heavy Chain Disease
Anemia, Premature ovarian insufficiency, Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly ORPHA:100025
Mucopolysaccharidosis, Type Ivb
Hyperlordosis, Genu valgum, Kyphosis, Prominent sternum, Ulnar deviation of the wrist, Hypoplasia... OMIM:253010
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of the menstrual cycle, Splenomegaly ORPHA:721
Waardenburg Syndrome, Type 3
Camptodactyly of finger, Premature graying of hair, Joint contracture of the hand, Synophrys, Car... OMIM:148820
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Vertebral segmentation defect, Butterfly vertebrae, Camptodactyly, Cholesteatoma, Kyphosc... OMIM:611209
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Thoracolumbar scoliosis, Hyperlordosis, Horizontal ribs, Genu valgum, Thoracic hypoplasia, Knee f... OMIM:618019
Acro-Renal-Mandibular Syndrome
Kyphosis, Butterfly vertebrae, Hip dislocation, Short neck, Abnormal clavicle morphology, Scolios... ORPHA:958
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu varum, Genu valgum, Irregular chondrocostal junctions, Short ribs, Joint laxity, Carpal bone... OMIM:250420
Holzgreve Syndrome
Abnormal rib morphology, Abnormally ossified vertebrae, Joint stiffness ORPHA:2167
Alagille Syndrome
Butterfly vertebral arch, Vertebral segmentation defect, Spina bifida occulta, Failure to thrive,... ORPHA:52
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... OMIM:203200
Nestor-Guillermo Progeria Syndrome
Delayed closure of the anterior fontanelle, Flexion contracture, Spotty hyperpigmentation, Osteol... OMIM:614008
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal rib morphology, Vertebral segmentation defect ORPHA:1120
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Horizontal ribs, Bell-shaped thorax, Failure to thrive, Delayed skeletal maturation, Thrombocytop... OMIM:614857
Osteogenesis Imperfecta, Type Viii
Recurrent fractures, Kyphosis, Joint laxity, Barrel-shaped chest, Multiple prenatal fractures, Sc... OMIM:610915
Campomelia, Cumming Type
Abnormal rib morphology, Abnormal thorax morphology, Abnormally ossified vertebrae, Myelodysplasia ORPHA:1318
Cartilage-Hair Hypoplasia
Sacral dimple, Hyperlordosis, Biconvex vertebral bodies, Short thorax, Anemia, Abnormal bone ossi... ORPHA:175
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Acholic stools, Portal fibrosis, Failure to thrive, Hepatomegaly, Splenomegaly OMIM:619868
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect OMIM:619165
Mosaic Trisomy 8
Camptodactyly of finger, Patellar aplasia, Narrow chest, Vertebral segmentation defect, Limitatio... ORPHA:96061
Aspergillosis
Osteomyelitis, Eosinophilia, Hematological neoplasm, Abnormal rib morphology, Abnormality of the ... ORPHA:1163
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Small for gestational age, Diabetic ketoacidosis, Onychauxis, Hypoglycemia, Pos... OMIM:262190
Greenberg Dysplasia
Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Epiphyseal stippling, Hypopla... OMIM:215140
Thanatophoric Dysplasia, Type I
Thoracic hypoplasia, Severe platyspondyly, Short ribs, Wide-cupped costochondral junctions, Short... OMIM:187600
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Waardenburg Syndrome, Type 2A
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... OMIM:193510
Immunodeficiency 64 With Lymphoproliferation
Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, Fa... OMIM:618534
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the costochondral junction, Bulging of the costochondral junction, Recurrent fract... OMIM:600081
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Decreased body weight, Decreased calvarial ossification, Craniosynostosis, Arthrogryposis multipl... OMIM:618265
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... ORPHA:895
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Short ribs, Hypoplastic vertebral bodies, Short neck, Platyspondyly, Narrow... ORPHA:2347
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Hypotrichosis 8
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... OMIM:278150
Achondrogenesis, Type Ii
Horizontal ribs, Absent vertebral body mineralization, Barrel-shaped chest, Short ribs OMIM:200610
Familial Osteodysplasia, Anderson Type
Increased susceptibility to fractures, Aplastic clavicle, Recurrent fractures, Kyphosis, Missing ... ORPHA:2769
Acute Monoblastic/Monocytic Leukemia
Anemia, Weight loss, Lymphocytosis, Cervical lymphadenopathy, Acute monocytic leukemia, Ankle swe... ORPHA:514
Kenny-Caffey Syndrome, Type 1
Anemia, Delayed closure of the anterior fontanelle, Thin clavicles, Calvarial osteosclerosis, Lon... OMIM:244460
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Mucolipidosis Iii Alpha/Beta
Short ribs, Craniosynostosis, Irregular carpal bones, Carpal bone hypoplasia, Scoliosis, Shallow ... OMIM:252600
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Vertebral arch anomaly, Increased bone mineral density, Osteopenia, Broad ribs, Wormian bones ORPHA:85184
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Weight loss, Hepatomegaly ORPHA:42642
Generalized Arterial Calcification Of Infancy
Cyanosis, Abnormality of the knee, Stippled calcification of the shoulder, Osteomalacia, Fused ce... ORPHA:51608
Immunodeficiency 27A
Anemia, Weight loss, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocyt... OMIM:209950
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Generalized bone demineralization, Abnormal bone ossification, Abnormal thorax morphology, Hepati... ORPHA:73230
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Hurler Syndrome
Camptodactyly of finger, Abnormality of the elbow, Spinal canal stenosis, Abnormal vertebral morp... ORPHA:93473
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Premature graying of hair, Synophrys, White eyelashes, White eyebrow... ORPHA:897
Brittle Cornea Syndrome 1
Dentinogenesis imperfecta, Joint laxity, Congenital hip dislocation, Spondylolisthesis, Scoliosis... OMIM:229200
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Flexion contracture, Decreased body weight, Thin ribs OMIM:614833
Robinow Syndrome
Radioulnar dislocation, Small for gestational age, Missing ribs, Kyphoscoliosis, Rib fusion, Scol... ORPHA:97360
Meier-Gorlin Syndrome 1
Flexion contracture, Osteochondritis dissecans, Camptodactyly, Elbow dislocation, Absent sternal ... OMIM:224690
Kagami-Ogata Syndrome
Bell-shaped thorax, Flexion contracture, Kyphoscoliosis, Long clavicles, Splenomegaly, Thin ribs OMIM:608149
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Platyspondyly ORPHA:163966
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hip subluxation, Abnormal vertebral morphology, Tracheomalacia, Obesity, Cervical C2/C3 vertebral... ORPHA:444077
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology, Craniosynostosis ORPHA:2145
Lethal Congenital Contracture Syndrome 5
Small for gestational age, Flexion contracture, Congenital contracture, Thin ribs OMIM:615368
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment... ORPHA:2885
Trisomy 13
Kyphosis, Narrow chest, Capillary hemangioma, Scoliosis, Abnormal rib morphology ORPHA:3378
X-Linked Hypophosphatemia
Genu varum, Genu valgum, Enlargement of the costochondral junction, Vertebral hyperostosis, Enthe... ORPHA:89936
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormal bone ossification, Synophrys, Eunuchoid habitus, Pectus excavatum, Joint hypermobility, ... ORPHA:2463
Bent Bone Dysplasia Syndrome 2
Short sternum, Hypoplastic acetabulae, Short ribs, Butterfly vertebrae, Short neck, Osteopenia, D... OMIM:620076
Ataxia-Telangiectasia
Premature graying of hair, Type II diabetes mellitus, Failure to thrive, Diabetes mellitus, Hypop... ORPHA:100
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Cleidocranial Dysplasia
Genu valgum, Recurrent fractures, Narrow chest, Down-sloping shoulders, Abnormal sacrum morpholog... ORPHA:1452
Antley-Bixler Syndrome
Delayed cranial suture closure, Camptodactyly of finger, Recurrent fractures, Narrow chest, Elbow... ORPHA:83
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... ORPHA:79414
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Hypogonadism, Azoospermia, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegal... OMIM:615234
Duane Retraction Syndrome
Irregular hyperpigmentation, Patchy hypopigmentation of hair, Central heterochromia, Camptodactyl... ORPHA:233
Occipital Horn Syndrome
Genu valgum, Limited elbow extension, Broad ribs, Bladder carcinoma, Kyphosis, Capitate-hamate fu... OMIM:304150
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, Abnormal sternum morphology, Vertebral segmentation defect, Multiple pte... ORPHA:2990
Craniometadiaphyseal Dysplasia
Genu varum, Genu valgum, Broad ribs, Scoliosis, Osteopenia, Cubitus valgus, Sclerosis of skull ba... OMIM:269300
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Cog1-Cdg
Vertebral segmentation defect, Flat acetabular roof, Butterfly vertebrae, Hepatosplenomegaly, Fai... ORPHA:263508
Gracile Bone Dysplasia
Asplenia, Failure to thrive, Decreased skull ossification, Hypoplastic spleen, Thin ribs OMIM:602361
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... ORPHA:169154
Osteopetrosis, Autosomal Recessive 8
Anemia, Failure to thrive, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:615085
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Failure to thrive, Rib fusion, Scoliosis, Obesity, Craniosynostosis ORPHA:261197
Ermine Phenotype
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo OMIM:227010
Schwartz-Jampel Syndrome
Wrist flexion contracture, Decreased body weight, Increased bone mineral density, Cachexia, Pectu... ORPHA:800
Alpha-Thalassemia
Anemia, Splenomegaly, Hemolytic anemia, Hypersplenism, Jaundice, Abnormal hemoglobin, Cholelithia... ORPHA:846
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Hypopigmentation of hair ORPHA:177910
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion, Pectus excavatum OMIM:211380
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Failure to thrive, Lymphadenopathy, Autoimmune hemolytic anemia, Hepatom... OMIM:618495
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Accelerated skeletal maturation, Delayed skeletal maturation, Platyspondyly, Abnorm... ORPHA:93317
Mucopolysaccharidosis, Type Vi
Genu valgum, Flexion contracture, Pectus carinatum, Broad ribs, Prominent sternum, Hypoplastic ac... OMIM:253200
Oculocerebrocutaneous Syndrome
Alopecia, Missing ribs, Hypopigmented skin patches, Abnormal fingernail morphology, Congenital di... ORPHA:1647
Autosomal Recessive Kenny-Caffey Syndrome
Delayed cranial suture closure, Thin clavicles, Calvarial osteosclerosis, Delayed skeletal matura... ORPHA:93324
Vacterl/Vater Association
Vertebral segmentation defect, Abnormal sacrum morphology, Abnormal intervertebral disk morpholog... ORPHA:887
Wilson Disease
Cirrhosis, Anemia, Weight loss, Hepatitis, Jaundice, Abnormality of the menstrual cycle, Hepatic ... ORPHA:905
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Radio-Renal Syndrome
Abnormal rib morphology, Short neck, Abnormality of the elbow, Abnormal form of the vertebral bodies ORPHA:3015
Acromesomelic Dysplasia 4
Genu varum, Genu valgum, Enlargement of the costochondral junction, Thoracic scoliosis, Prominent... OMIM:619636
Lethal Congenital Contracture Syndrome 10
Stiff neck, Hypoplasia of the thymus, Short neck, Narrow chest, Thoracic scoliosis, Broad ribs OMIM:617022
Fibrous Dysplasia Of Bone
Abnormality of the cervical spine, Thyroid carcinoma, Osteomalacia, Abnormal lumbar spine morphol... ORPHA:249
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip subluxation, Flexion contracture, Decreased body weight, Advanced ossification of carpal bone... OMIM:271640
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly OMIM:616622
Tetraamelia-Multiple Malformations Syndrome
Abnormal rib morphology, Abnormally ossified vertebrae, Missing ribs ORPHA:3301
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly OMIM:610293
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... OMIM:615631
Squalene Synthase Deficiency
Knee flexion contracture, Abnormality of hair pigmentation, Elbow flexion contracture, Hypocholes... OMIM:618156
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Thoracic hypoplasia, Small for gestational age, Large for gestational a... ORPHA:254534
Spondylometaphyseal Dysplasia, Algerian Type
Genu valgum, Anterior rib cupping, Carpal bone hypoplasia, Kyphoscoliosis, Platyspondyly, Lumbar ... OMIM:184253
Simpson-Golabi-Behmel Syndrome, Type 1
Short sternum, Short ribs, Vertebral segmentation defect, Accelerated skeletal maturation, Supern... OMIM:312870
Xylt1-Cdg
Joint dislocation, Synophrys, Accelerated skeletal maturation, Joint laxity, Hirsutism, Truncal o... ORPHA:370930
Hemochromatosis, Type 1
Cirrhosis, Impotence, Azoospermia, Hepatocellular carcinoma, Testicular atrophy, Hepatomegaly, Hy... OMIM:235200
Oculocutaneous Albinism Type 3
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... ORPHA:79433
Incontinentia Pigmenti
Atrophic, patchy alopecia, Alopecia, Abnormality of skin pigmentation, Supernumerary ribs, Scarri... OMIM:308300
Immunodeficiency 7
Hypereosinophilia, Failure to thrive, Lymphadenopathy, Autoimmune hemolytic anemia, Hepatomegaly,... OMIM:615387
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu valgum, Joint contracture of the hand, Minimal subcutaneous fat, Craniosynostosis, Genu recu... OMIM:182212
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Horizontal ribs, Thoracic hypoplasia, Short ribs, Lateral clavicle hook, Narrow chest, Omphalocele OMIM:617895
Multiple Pterygium-Malignant Hyperthermia Syndrome
Camptodactyly of finger, Kyphosis, Capillary hemangioma, Pectus excavatum, Scoliosis, Abnormal ri... ORPHA:2215
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:617068
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Anemia, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Osteogenesis Imperfecta
Flexion contracture, Thoracic hypoplasia, Pectus excavatum, Dislocated radial head, Abnormal rib ... ORPHA:666
Kagami-Ogata Syndrome
Coat hanger sign of ribs, Bell-shaped thorax, Thoracic hypoplasia, Large for gestational age, Lim... ORPHA:254519
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Joint hypermobility, Thin ribs ORPHA:456328
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly OMIM:224100
Osteogenesis Imperfecta, Type Vii
Delayed cranial suture closure, Protrusio acetabuli, Recurrent fractures, Multiple rib fractures,... OMIM:610682
Mucopolysaccharidosis, Type Iiid
Ovoid thoracolumbar vertebrae, Thickened ribs, Elbow flexion contracture, Achilles tendon contrac... OMIM:252940
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormal lymph node morphology, Lymphadenitis, Lymphoma, Lymphocytosis, Decreased proportion of C... ORPHA:911
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Vertebral fusion ORPHA:959
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Weight loss, Fine hair, Hypopigmentation of hair, Generalized hirsutism ORPHA:2221
Pyknoachondrogenesis
Horizontal ribs, Unossified sacrum, Short thorax, Enlarged thorax, Short ribs, Poorly ossified ve... ORPHA:3003
Severe Congenital Nemaline Myopathy
Flexion contracture, Abnormal thorax morphology, Increased connective tissue, Multiple prenatal f... ORPHA:171430
Kyphomelic Dysplasia
Anterior rib cupping, Thoracic hypoplasia, Flat acetabular roof, Pterygium, Limitation of joint m... OMIM:211350
Autosomal Dominant Popliteal Pterygium Syndrome
Abnormal rib morphology, Joint stiffness, Popliteal pterygium, Scoliosis ORPHA:1300
Piebaldism
Piebaldism, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock... ORPHA:2884
Premature Aging Syndrome, Penttinen Type
Delayed cranial suture closure, Recurrent fractures, Keloids, Cervical ribs, Failure to thrive, F... OMIM:601812
Cholestasis, Progressive Familial Intrahepatic, 2
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Failure to ... OMIM:601847
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Hypopigmentation of hair ORPHA:411515
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Short ribs, Supernumerary nipple, Abnormal rib morphology, Broad ribs ORPHA:2519
Muenke Syndrome
Coronal craniosynostosis, Carpal synostosis, Hypopigmented skin patches, Hypopigmentation of hair... ORPHA:53271
Heterotaxy, Visceral, 1, X-Linked
Cyanosis, Asplenia, Absence of the sacrum, Block vertebrae, Polysplenia, Failure to thrive, Conge... OMIM:306955
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Wrist flexion contracture, Coat hanger sign of ribs, Flexion contracture, Thoracic hypoplasia, Pr... ORPHA:254528
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Failure to thrive, Hepatomegaly, Exocrine pancreatic insufficiency, Anemia of inadequat... OMIM:612714
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Knee flexion contracture, Proximal symphalangism of hands, Humero... OMIM:151050
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Dextrocardia
Abnormal rib morphology, Congenital hip dislocation, Abnormality of the spleen, Neuroblastoma ORPHA:1666
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Menkes Disease
Hernia, Osteomyelitis, Recurrent fractures, Pectus excavatum, Woolly hair, Inguinal hernia, Hypog... ORPHA:565
Beta-Thalassemia
Anemia, Hepatitis, Hepatomegaly, Cholelithiasis, Hypogonadotropic hypogonadism, Thrombocytopenia,... ORPHA:848
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Failure to thrive, Eosinophilia, Hepatomegaly, Impaired oxid... OMIM:226990
Griscelli Syndrome Type 2
Premature graying of hair, Iris hypopigmentation, Hypopigmentation of hair, Hyperlipidemia, Parti... ORPHA:79477
Wolman Disease
Anemia, Cachexia, Bone-marrow foam cells, Hepatomegaly, Ascites, Splenomegaly ORPHA:75233
Trisomy 1Q
Camptodactyly of finger, Hypoplastic toenails, Short thorax, Aplasia/Hypoplasia of the nails, Con... ORPHA:261344
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Oculocutaneous Albinism Type 4
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... ORPHA:79435
Oculocutaneous Albinism
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... ORPHA:55
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Red hair, Hypoglycemic seizures, Obesity OMIM:609734
Acrorenal-Mandibular Syndrome
Abnormal sacral segmentation, Elbow flexion contracture, Missing ribs, Butterfly vertebrae, Hip d... OMIM:200980
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Thoracic hypoplasia, Short ribs, Lateral clavicle hook, Acetabular spurs, Scolio... OMIM:613091
Mandibuloacral Dysplasia Progeroid Syndrome
Delayed cranial suture closure, Sparse eyebrow, Osteolytic defects of the phalanges of the hand, ... OMIM:619127
Sclerosteosis 1
Sclerotic vertebral endplates, Broad clavicles, Broad ribs, Sclerotic scapulae OMIM:269500