Gene: Ppp5c MGI:102666

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Gene Summary

protein phosphatase 5, catalytic subunit
ANP receptor,  PP5

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 3.39×10-05
abnormal rib morphology Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 3.31×10-08
increased circulating iron level Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 1.43×10-06
abnormal coat/hair pigmentation Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 1.28×10-06
vertebral fusion Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 6.98×10-06
increased circulating calcium level Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 1.09×10-06
decreased circulating HDL cholesterol level Ppp5ctm1a(EUCOMM)Wtsi HOM   Early adult 2.16×10-05
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 lumbar vertebrae number Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 5.18×10-06
decreased circulating glucose level Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 1.48×10-07
decreased circulating cholesterol level Ppp5ctm1a(EUCOMM)Wtsi HOM   Early adult 1.58×10-05
decreased circulating triglyceride level Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 3.71×10-12
increased circulating creatinine level Ppp5ctm1a(EUCOMM)Wtsi HOM Early adult 1.96×10-14

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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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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.



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
Matching phenotypes Source
Ulna Metaphyseal Dysplasia Syndrome
Delayed skeletal maturation, Hypercalcemia, Abnormality of the vertebral column, Wrist pain OMIM:191420
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyph... OMIM:277300
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Isolated Klippel-Feil Syndrome
Scoliosis, Abnormality of the vertebral column, Sprengel anomaly, Cervical C2/C3 vertebral fusion... ORPHA:2345
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion, Short neck, Fused cervical vertebrae OMIM:214300
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Abnormal clavicle morphology, Kyphosis, Pectus excavatum, Abnormality of the ribs,... ORPHA:2522
Spondylocostal Dysostosis 5
Scoliosis, Posterior rib fusion, Low back pain, Pectus carinatum, Supernumerary ribs, Hemivertebr... OMIM:122600
Spondylocostal Dysostosis 4, Autosomal Recessive
Short thorax, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, M... OMIM:613686
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Radioulnar synostosis, Pectus carinatum, Abnormality of the elbow, Abnormality of the ... ORPHA:3268
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral fusion, Supernumerary ribs, Vertebral segmentation defect OMIM:221950
Chondrocalcinosis Due To Apatite Crystal Deposition
Costal cartilage calcification, Chondrocalcinosis, Osteoarthritis of the small joints of the hand... OMIM:118610
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae ORPHA:1436
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Broad ribs, Joint swelling, Flaring of rib cage, Fused cervical vertebrae, Failure to... OMIM:612852
Short thorax, Enlarged thorax, Absent or minimally ossified vertebral bodies, Abnormal vertebral ... ORPHA:66637
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae OMIM:309620
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Tarsal synostosis, Flexion contracture, Fused thoracic vertebrae, Antecubital pterygiu... OMIM:618469
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and... OMIM:118100
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... ORPHA:2064
Cardiospondylocarpofacial Syndrome
Scoliosis, Tarsal synostosis, Joint laxity, Synostosis of carpals/tarsals, Rib fusion, Failure to... OMIM:157800
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Short thorax, Vertebral segmentation defect, Sacral dimple OMIM:618845
Pathologic fracture, Hypercalcemia, Bone pain ORPHA:55881
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Craniosynostosis, Arthrogryposis multiplex congenita, Tarsal synost... OMIM:178110
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Craniosynostosis, Narrow chest, Recurrent fractures, Hypercalcemia, Abnormality of the ribs ORPHA:436
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion, Hemivertebrae, Short neck, Vertebral segmentation defect, Vertebral clefting OMIM:608681
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Vertebral segmenta... OMIM:609813
Infantile Myofibromatosis
Osteolysis, Irregular hyperpigmentation, Abnormal hair morphology, Chondrocalcinosis, Abnormal th... ORPHA:2591
Frontometaphyseal Dysplasia 1
Scoliosis, Genu valgum, Camptodactyly of finger, Scapular winging, Anteriorly placed odontoid pro... OMIM:305620
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Generalized osteosclerosis, Clav... ORPHA:2790
Kniest Dysplasia
Platyspondyly, Short thorax, Enlarged joints, Flexion contracture of finger, Arthropathy, Coronal... ORPHA:485
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Abnormal form of the ver... ORPHA:1801
Hypervitaminosis A, Susceptibility To
Alopecia totalis, Lower limb pain, Hypercalcemia OMIM:240150
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormality of the ribs, Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Heart Defects-Limb Shortening Syndrome
Accelerated skeletal maturation, Narrow chest, Abnormal form of the vertebral bodies, Kyphosis, A... ORPHA:1354
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Lamb-Shaffer Syndrome
Scoliosis, Thoracic kyphosis, Fused cervical vertebrae ORPHA:530983
Neurogenic Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:100073
Hypophosphatasia, Infantile
Platyspondyly, Elevated plasma pyrophosphate, Craniosynostosis, Decreased calvarial ossification,... OMIM:241500
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Flexion contracture, Cervical C2/C3 vertebral fusion, Thoracolumbar scoliosis, Acetabular dysplas... OMIM:616549
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Fibrodysplasia Ossificans Progressiva
Scoliosis, Small cervical vertebral bodies, Hamartoma, Ectopic ossification in muscle tissue, Ect... OMIM:135100
Oculocerebrodental Syndrome
Scoliosis, Hypocalcemia, Hyperlordosis, Thoracic kyphosis, Abnormality of the frontal hairline, H... ORPHA:557003
Sprengel Deformity
Scoliosis, Cervical segmentation defect, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, R... OMIM:184400
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Hyperlordosis, Short thorax, Posterior rib fusion, Missing ribs, Spina bifida occulta,... ORPHA:1797
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Kbg Syndrome
Thoracic kyphosis, Rib fusion, Vertebral fusion, Cervical ribs, Delayed skeletal maturation, Vert... OMIM:148050
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Hirsutism, Hypertriglyceridemia, Diabetes... OMIM:612526
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Thrombocytopenia, Aplasia/Hypoplasia of the patella, Cervical ribs, Hip dislocation, G... ORPHA:3320
Oculoskeletodental Syndrome
Scoliosis, Hypocalcemia, Low anterior hairline, Low posterior hairline, Thoracic kyphosis, Abnorm... OMIM:618440
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Flexion contracture, Vertebral fusion, Abnormal cervical curvature, Thin ribs,... OMIM:312150
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Narrow chest, Abnormal form o... ORPHA:2635
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia, Spinal rigidity, Flexion contra... OMIM:615883
Kbg Syndrome
Scoliosis, Thoracic kyphosis, Persistent open anterior fontanelle, Vertebral fusion, Cervical rib... ORPHA:2332
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Thoracic kyphoscoliosis, Pectus carinatum, Lumbar hyperlordosis, Vertebral fusion, But... ORPHA:313892
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyc... OMIM:610947
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Flexion contracture, Vertebral fusion, Abnormal cervical curvature, Thin ribs,... OMIM:253290
Ring Chromosome 21 Syndrome
Scoliosis, Abnormal thorax morphology, Fused thoracic vertebrae, Thoracic hemivertebrae ORPHA:1445
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Dislocated radial head, Axillary pterygium, Arthrogryposis multiplex congenita, Anteri... OMIM:265000
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Rickets, Hypophosphatemic rickets, Bone pain, Rachitic rosary, Hypercalcemia OMIM:612089
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Hemivertebrae, Abnormality of the ribs, Short neck, Eunuch... ORPHA:2234
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Wormian bones, Pectus carinatum, Kyphosis, Pectus excavatum, Beaded rib... OMIM:259440
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility, Flared, irregular rib ends ORPHA:168555
Fanconi Anemia, Complementation Group I
Neutropenia, Fused cervical vertebrae, Decreased body weight, Short neck, Bone marrow hypocellula... OMIM:609053
Mesomelic Dysplasia, Kantaputra Type
Cubitus valgus, Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Abnormali... ORPHA:1836
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Overweight ORPHA:370010
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Brachydactyly, Type B1
Hypoplastic sacrum, Camptodactyly, Hemivertebrae, Vertebral fusion, Delayed cranial suture closur... OMIM:113000
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Platyspondyly, Thoracic hypoplasia, Splenomegaly OMIM:602271
Mantle Cell Lymphoma
Weight loss, Lymphadenopathy, Splenomegaly ORPHA:52416
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Supernumerary vertebrae, Rib fusion, Short ribs, Hemivertebrae, Vertebral fusion, Thin... OMIM:271520
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Sprengel anomaly, Pectus excavatum, Spina bifida occulta, Fused cervical vertebrae, Butterfly ver... OMIM:619227
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Verheij Syndrome
Scoliosis, Hemivertebrae, Vertebral fusion, Hip dislocation, Short neck OMIM:615583
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Ovoid vertebral bodies, Osteoporotic tarsals, Flat acetabular ro... OMIM:609052
Thoracolaryngopelvic Dysplasia
Scoliosis, Slender build, Horizontal ribs, Irregular vertebral endplates, Short ribs, Bell-shaped... OMIM:187760
Vertebral Hypersegmentation And Orofacial Anomalies
Joint hypermobility, Scapular winging, Supernumerary nipple, Pectus excavatum, Widow's peak, Six ... OMIM:619122
Basal Cell Nevus Syndrome
Scoliosis, Irregular ossification of hand bones, Abnormal sternum morphology, Hemivertebrae, Hama... OMIM:109400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:606612
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Scoliosis, Genu valgum, Osteolysis, Abnormal form of the vertebra... ORPHA:93160
Keratoconus Posticus Circumscriptus
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion OMIM:244600
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia, Hypoglycemia OMIM:232700
Laryngotracheoesophageal Cleft Type 4
Abnormality of the ribs, Abnormality of the spleen, Cachexia, Abnormal form of the vertebral bodies ORPHA:93941
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic tetany, Thin clavicles, Thin ribs, Delayed cranial suture closure, Dec... ORPHA:93324
Waardenburg Syndrome, Type 1
Supernumerary vertebrae, Heterochromia iridis, Premature graying of hair, White eyebrow, Sprengel... OMIM:193500
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Narrow chest, Pectus carinatum, Pectus excavatum, Hemivertebrae, Vertebral fus... OMIM:263540
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Hyperglycemia, Glucose intolerance, Abnormality of the cervical spine OMIM:307500
Fibrous Dysplasia Of Bone
Hypophosphatemia, Scoliosis, Abnormal clavicle morphology, Osteolysis, Patchy reduction of bone m... ORPHA:249
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Platyspondyly, Multiple joint dislocation, Dislocated radial head, Joint laxity, Carpa... OMIM:618395
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Chondrocalcinosis, Generalized osteoporosis, Hypercalcemia, Infantile hypercalc... ORPHA:99879
Immunodeficiency 48
Hepatomegaly, Failure to thrive, Splenomegaly OMIM:269840
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormality of the ribs, Short neck, Vertebral segmentation defect ORPHA:2578
Thrombocytopenia-Absent Radius Syndrome
Lateral clavicle hook, Leukocytosis, Carpal bone hypoplasia, Carpal synostosis, Thrombocytopenia,... OMIM:274000
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Atelosteogenesis, Type I
Coronal cleft vertebrae, Narrow chest, Elbow dislocation, Thoracic platyspondyly, 11 pairs of rib... OMIM:108720
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Splenomegaly OMIM:619175
Gorlin Syndrome
Scoliosis, Hemivertebrae, Neoplasm, Vertebral fusion, Vertebral wedging ORPHA:377
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Hypothalamic hamartoma, Rib fusion, Hemivertebrae, Vertebral fusion, Supern... OMIM:206900
Mosaic Trisomy 20
Scoliosis, Narrow chest, Kyphosis, Down-sloping shoulders, Vertebral segmentation defect, Vertebr... ORPHA:1724
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Short ribs, Pathologic fracture, Hypercalcemia, Hip contracture, Knee flexion c... OMIM:156400
Osteogenesis Imperfecta, Type Xv
Scoliosis, Platyspondyly, Joint hypermobility, Recurrent fractures, Thin ribs, Bowing of limbs du... OMIM:615220
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Platyspondyly, Genu valgum, Synostosis of carpal bones, Pectus carinatum, Abnormal ... ORPHA:93351
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia, Delayed skeletal maturation OMIM:614732
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Elevated circulating methylsuccinic acid concentration, Hypocho... OMIM:618156
Aarskog-Scott Syndrome
Camptodactyly of finger, Genu recurvatum, Joint hyperflexibility, Pectus excavatum, Abnormality o... ORPHA:915
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Abnormality of the nail, Insulin resistance, Hypoglycemia, Type II diabetes... ORPHA:181393
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
2P21 Microdeletion Syndrome
Hypocalcemia, Long eyelashes, Hypoglycemia, Cystinuria ORPHA:163693
Lateral Meningocele Syndrome
Scoliosis, Joint hypermobility, Wormian bones, Biconcave vertebral bodies, Kyphosis, Pectus excav... OMIM:130720
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae OMIM:173800
Mosaic Trisomy 14
Camptodactyly of finger, Narrow chest, Failure to thrive, Abnormality of the ribs, Short neck ORPHA:1703
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Delayed closure of the anterior fontanelle, Thin ribs, Decreased skull ossification... OMIM:244460
Hyperlipoproteinemia, Type Id
Hepatomegaly, Failure to thrive, Splenomegaly OMIM:615947
Osteogenesis Imperfecta, Type Xvi
Joint hypermobility, Beaded ribs, Small for gestational age, Osteopenia, Vertebral compression fr... OMIM:616229
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Elbow dislocation, Kyphosis, Hemivertebrae, Ver... ORPHA:2916
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Failure to thrive, Splenomegaly, Lymphadenopathy OMIM:618495
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Delayed skeletal maturation, Hypocholesterolemia OMIM:616834
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Platyspondyly, Limited elbow extension, Genu valgum, Pectus carinatum, Capita... OMIM:271650
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Sprengel anomaly, Hemivertebrae, Abnormality of... ORPHA:2180
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Elbow dislocation, Increased bone mineral density, Abnormal vertebral... ORPHA:90650
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Hepatomegaly, Splenomegal... OMIM:608971
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Platyspondyly, Enlarged joints, Pectus carinatum, Carpal bone hypoplas... OMIM:184252
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Platyspondyly, Narrow chest, Decreased skull ossification, Abnormal... ORPHA:93267
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Platyspondyly, Hypopigmentation of hair, Albinism, Kyphosis, Hypopigmentation of th... ORPHA:2786
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Camptodactyly, Failure to thrive in infancy, Thrombocytopenia, Anemia, Abnormality of ... OMIM:611209
Becker Nevus Syndrome
Scoliosis, Pectus excavatum, Cervical ribs, Hemivertebrae OMIM:604919
Hemochromatosis Type 2
Increased circulating ferritin concentration, Osteoporosis, Abnormality of iron homeostasis, Elev... ORPHA:79230
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Scoliosis, Narrow chest, Rib fusion, Hemivertebrae, Vertebral fusion, 11 pairs of ribs, Short neck ORPHA:94095
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:607155
Lethal Congenital Contracture Syndrome Type 1
Abnormal form of the vertebral bodies, Abnormality of the elbow, Recurrent fractures, Abnormality... ORPHA:1486
Diastrophic Dwarfism
Scoliosis, Abnormal clavicle morphology, Camptodactyly of finger, Hypoplastic cervical vertebrae,... ORPHA:628
Frontometaphyseal Dysplasia
Scoliosis, Limited wrist movement, Dislocated radial head, Craniosynostosis, Camptodactyly of fin... ORPHA:1826
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Caudal Regression Sequence
Scoliosis, Joint stiffness, Abnormal vertebral segmentation and fusion, Hypoplastic vertebral bod... ORPHA:3027
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia, Osteopenia, Genu varum OMIM:619073
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Narrow chest, Recurrent fractures, Aminoaciduria, Calcinosis, Hypercalcemia OMIM:239200
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Lateral clavicle hook, Radioulnar synostosis, Elbow dislocation, Shoulder dislocation, Genu varum... OMIM:171480
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Enlargement of the ankles, Delayed epiphyseal ossification, Gener... ORPHA:289157
Nestor-Guillermo Progeria Syndrome
Scoliosis, Osteoporosis, Delayed closure of the anterior fontanelle, Osteolytic defects of the di... OMIM:614008
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Delayed skeletal maturation, Cupped ribs, Thoracic hypoplasia ORPHA:168549
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Contracture of the distal interphalangeal joint of the fingers, Thin ri... ORPHA:83617
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Platyspondyly, Distal ulnar epiphyseal stippling, Beaking of vertebral bodies, Delayed... OMIM:609616
Becker Nevus Syndrome
Scoliosis, Hamartoma, Pectus carinatum, Kyphosis, Pectus excavatum, Rib fusion, Spina bifida occu... ORPHA:64755
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Narrow chest, Decreased cranial base ossification, Severe platyspondy... OMIM:151210
Arnold-Chiari Malformation Type I
Scoliosis, Anteriorly placed odontoid process, Cervical C2/C3 vertebral fusion, Stiff neck, Fused... ORPHA:268882
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Limited elbow extension, Thoracic hypoplasia, Ovoid vertebral bodies, Lumbar hyper... OMIM:608728
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Late-Onset Isolated Acth Deficiency
Vitiligo, Generalized bone demineralization, Decreased circulating cortisol level, Hyponatremia, ... ORPHA:199299
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Calvarial osteosclerosis, Hypercalcemia, Hyperphosphatemia OMIM:617994
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Spondylocarpotarsal Synostosis Syndrome
Scoliosis, Hyperlordosis, Limited elbow extension, Scapular winging, Tarsal synostosis, Pectus ca... OMIM:272460
Juberg-Hayward Syndrome
Scoliosis, Radioulnar synostosis, Abnormal vertebral morphology, Abnormality of the elbow, Abnorm... ORPHA:2319
Mucopolysaccharidosis Type 6
Genu valgum, Broad ribs, Ovoid vertebral bodies, Kyphosis, Joint stiffness, Failure to thrive, Sp... ORPHA:583
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration, Synovitis, Arthritis ORPHA:567544
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Wormian bones, Beaded ribs, Absent ossification of calvaria, Recurrent fractures, ... OMIM:166210
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Dense calvaria, Ovoid thoracolumbar vertebrae, Joint stiffness, Splenomegaly OMIM:252900
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Advanced tarsal ossification, Narrow chest, Ovoid ve... OMIM:269250
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Scoliosis, Kyphosis, Pectus excavatum, Synophrys, Hypercalcemia ORPHA:476126
Peroxisome Biogenesis Disorder 3B
Osteoporosis, Steatorrhea, Hypocholesterolemia OMIM:266510
Dyggve-Melchior-Clausen Disease
Atlantoaxial instability, Platyspondyly, Short thorax, Limited elbow extension, Genu valgum, Abno... ORPHA:239
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Hepatomegaly, Hypogonadism, Anemia, Splenomegaly, Decreased mean corpus... OMIM:615234
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Reduced bone mineral density, Delayed skeletal maturation ORPHA:172
Ring Chromosome 10 Syndrome
Hypocalcemia, Pectus excavatum, Short neck ORPHA:1438
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Joint hyperflexibility, Hemivertebrae, Abnormality of the ... ORPHA:2759
White Forelock With Malformations
Joint hyperflexibility, Sprengel anomaly, Spina bifida occulta, Abnormality of the ribs, Delayed ... ORPHA:2475
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia, Cafe-au-lait spot, Axillary freckling OMIM:171420
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Generalized joint laxity, Thoracic kyphosis, Pectus excavatum, Hypermobil... ORPHA:508498
Acute Adrenal Insufficiency
Vitiligo, Decreased circulating cortisol level, Hyponatremia, Hyperuricemia, Hypoglycemia, Increa... ORPHA:95409
Septopreoptic Holoprosencephaly
Abnormality of the ribs, Abnormal vertebral morphology ORPHA:280195
Mast Cell Sarcoma
Weight loss, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Femoral-Facial Syndrome
Scoliosis, Radioulnar synostosis, Sprengel anomaly, Rib fusion, Abnormality of the ribs, Vertebra... ORPHA:1988
Grant Syndrome
Wormian bones, Abnormality of the glenoid fossa, Narrow chest, Joint hyperflexibility, Sprengel a... ORPHA:2097
Achondrogenesis Type 1B
Short thorax, Abnormal enchondral ossification, Narrow chest, Abnormality of the ribs, Short neck ORPHA:93298
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Platyspondyly, Hyperlordosis, Anterior rib cupping, Genu valgum, Delayed pubic bone os... OMIM:184250
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Thoracic dysplasia, Elevated circulating creatinine concentration, Narrow chest OMIM:614376
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Camptodactyly of finger, Short thorax, Abnormal form of the vertebral bodies, Kyphosis... ORPHA:2311
Aicardi Syndrome
Scoliosis, Hemangioma, Bifid ribs, Carcinoma, Metastatic angiosarcoma, Teratoma, Rib fusion, Hemi... OMIM:304050
Mucopolysaccharidosis Type 4
Scoliosis, Platyspondyly, Hyperlordosis, Short thorax, Genu valgum, Pectus carinatum, Joint hyper... ORPHA:582
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormality of the ribs, Joint hypermobility, Pectus excavatum, Hypoplastic distal segments of sc... OMIM:602196
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:94090
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Narrow chest, Wide-cupped costochondral junctions, Short ribs, Small abnormally fo... OMIM:187601
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia ORPHA:446
Elevated circulating creatinine concentration, Type I diabetes mellitus ORPHA:275555
Addison Disease
Vitiligo, Generalized bone demineralization, Decreased circulating cortisol level, Hyponatremia, ... ORPHA:85138
Koolen-De Vries Syndrome
Scoliosis, Joint hyperflexibility, Kyphosis, Pectus excavatum, Vertebral fusion, Hip dislocation,... ORPHA:96169
Shwachman-Diamond Syndrome 1
Anterior rib cupping, Myelodysplasia, Persistence of hemoglobin F, Narrow chest, Ovoid vertebral ... OMIM:260400
Albers-Schönberg Osteopetrosis
Hypocalcemia, Genu valgum, Recurrent fractures, Bone pain, Generalized osteosclerosis, Mandibular... ORPHA:53
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Short neck, Hemivertebrae ORPHA:1780
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Vertebral segmentation defect, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Alpha-Heavy Chain Disease
Hypocalcemia, Alopecia ORPHA:100025
Congenital Bile Acid Synthesis Defect Type 3
Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice, Congenital... ORPHA:79302
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Intervertebral disc degeneration, Low back pain, Kyphosis, Limited hip movement, Limitation of kn... OMIM:203500
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Prominent floating ribs, Abnormal hair morphology OMIM:152800
Otopalatodigital Syndrome Type 2
Scoliosis, Camptodactyly of finger, Tarsal synostosis, Narrow chest, Elbow dislocation, Synostosi... ORPHA:90652
Thymic Neuroendocrine Tumor
Osteopenia, Hypercalcemia, Increased circulating cortisol level ORPHA:97289
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Weight loss, Splenomegaly ORPHA:79238
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Infantile-Onset X-Linked Spinal Muscular Atrophy
Arthrogryposis multiplex congenita, Mildly elevated creatine kinase, Short ribs, Interphalangeal ... ORPHA:1145
Potocki-Lupski Syndrome
Scoliosis, Hypocholesterolemia OMIM:610883
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Multiple Myeloma
Elevated circulating creatinine concentration, Bone pain, Hyperproteinemia, Pathologic fracture, ... ORPHA:29073
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Hyperpigmentation of the skin, Glucose intolerance ORPHA:75563
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Gm1-Gangliosidosis, Type I
Scoliosis, Thickened ribs, Vacuolated lymphocytes, Beaking of vertebral bodies, Kyphosis, Joint s... OMIM:230500
Postaxial Acrofacial Dysostosis
Supernumerary vertebrae, Congenital hip dislocation, Radioulnar synostosis, Pectus excavatum, Sup... OMIM:263750
Galactosemia Iii
Hepatomegaly, Jaundice, Failure to thrive, Splenomegaly OMIM:230350
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Flexion contracture OMIM:616733
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Cartilage-Hair Hypoplasia
Scoliosis, Joint hypermobility, Limited elbow extension, Impaired lymphocyte transformation with ... OMIM:250250
Microcephalic Primordial Dwarfism, Toriello Type
Abnormality of the ribs, Delayed skeletal maturation, Neutropenia ORPHA:2643
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Failure to thrive, Hepatospleno... OMIM:618963
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Pectus excavatum, Hypertriglyceridemia, Hyperca... ORPHA:369837
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Chondrocalcinosis, Bone pain, Osteomalacia, Hypercalcemia OMIM:600740
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Dense calvaria, Ovoid thoracolumbar vertebrae, Joint stiffness, Splenomegaly OMIM:252920
Paternal Uniparental Disomy Of Chromosome 1
Recurrent fractures, Craniosynostosis, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Weight loss, Lymphadenopathy, Splenomegaly ORPHA:86893
Craniodiaphyseal Dysplasia
Abnormality of the ribs ORPHA:1513
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Glycosuria OMIM:614817
3Q29 Microdeletion Syndrome
Abnormality of skin pigmentation, Pectus carinatum, Joint hyperflexibility, Pectus excavatum, Six... ORPHA:65286
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia, Chondrocalcinosis OMIM:145981
Osteogenesis Imperfecta, Type Iii
Scoliosis, Wormian bones, Protrusio acetabuli, Biconcave vertebral bodies, Kyphosis, Decreased ca... OMIM:259420
Frontometaphyseal Dysplasia 2
Scoliosis, Dislocated radial head, Congenital hip dislocation, Pectus excavatum, Camptodactyly, H... OMIM:617137
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron, Ami... OMIM:603358
Apert Syndrome
Cervical C5/C6 vertebrae fusion, Vertebral segmentation defect, Ovarian neoplasm ORPHA:87
Achondrogenesis Type 1A
Short thorax, Abnormal enchondral ossification, Narrow chest, Recurrent fractures, Multiple rib f... ORPHA:93299
Scoliosis, Platyspondyly, Limited elbow extension, Irregular carpal bones, Genu valgum, Joint lax... OMIM:177170
Sandhoff Disease
Hepatomegaly, Failure to thrive, Splenomegaly ORPHA:796
Achondrogenesis, Type Ia
Unossified vertebral bodies, Short neck, Abnormal hand bone ossification, Hypoplastic scapulae, B... OMIM:200600
Axial Mesodermal Dysplasia Spectrum
Scoliosis, Abnormality of the knee, Abnormal form of the vertebral bodies, Missing ribs, Abnormal... ORPHA:1834
Camptodactyly of finger, Broad ribs, Narrow chest, Abnormal form of the vertebral bodies, Hypopla... ORPHA:2021
Aicardi Syndrome
Scoliosis, Hepatoblastoma, Rib fusion, Multiple lipomas, Intestinal polyposis, Block vertebrae, S... ORPHA:50
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Mucopolysaccharidosis, Type Iva
Scoliosis, Platyspondyly, Hyperlordosis, Prominent sternum, Osteoporosis, Joint laxity, Genu valg... OMIM:253000
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Long eyelashes, Neonatal hypoglycemia, Cystinuria OMIM:606407
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Dense calvaria, Ovoid thoracolumbar vertebrae, Splenomegaly, Joint stiffness, Kyp... OMIM:252930
Multiple Endocrine Neoplasia, Type I
Cafe-au-lait spot, Hypercalcemia, Increased circulating cortisol level, Hypoglycemia OMIM:131100
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Bell-shaped thorax, Horizontal ribs, Thoracic dysplasia, Obe... OMIM:615633
Mu-Heavy Chain Disease
Weight loss, Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Hemochromatosis, Type 2A
Infertility, Cirrhosis, Azoospermia, Amenorrhea, Hepatomegaly, Splenomegaly, Hypogonadotropic hyp... OMIM:602390
Holt-Oram Syndrome
Scoliosis, Abnormal clavicle morphology, Radioulnar synostosis, Kyphosis, Sprengel anomaly, Pectu... ORPHA:392
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:256840
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Osteogenesis Imperfecta, Type Xviii
Joint hypermobility, Wormian bones, Joint laxity, Biconcave vertebral bodies, Recurrent fractures... OMIM:617952
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormality of the ribs, Abnormally ossified vertebrae, Splenomegaly ORPHA:3035
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Ovoid vertebral bodies, Severe platyspondyly, Joint stiffness, Cupped ribs OMIM:608940
Koolen-De Vries Syndrome
Scoliosis, Joint hypermobility, Kyphosis, Pectus excavatum, Spondylolisthesis, Sacral dimple, Ver... OMIM:610443
Prune Belly Syndrome
Scoliosis, Congenital hip dislocation, Pectus excavatum, Failure to thrive, Abnormality of the ri... ORPHA:2970
Griscelli Syndrome Type 1
Iris hypopigmentation, Premature graying of hair, White hair, Partial albinism, Hyperlipidemia ORPHA:79476
Phaver Syndrome
Camptodactyly of finger, Radioulnar synostosis, Abnormal form of the vertebral bodies, Pterygium,... ORPHA:2876
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Cooper-Jabs Syndrome
Scoliosis, Camptodactyly of finger, Joint hyperflexibility, Reduced bone mineral density, Abnorma... ORPHA:1488
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Platyspondyly, Decreased skull ossification, 11 pairs of ribs OMIM:300863
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Craniofacial osteosclerosis, Cortical sclerosis, Diaphyseal sclerosis OMIM:122860
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Scoliosis, Broad ribs, Biconcave vertebral bodies, Short ribs, Short clavicles, Short neck OMIM:610319
Monosomy 13Q34
Infantile hypercalcemia, Osteochondrosis, Horizontal eyebrow, Insulin resistance ORPHA:96168
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia OMIM:607765
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostas... OMIM:231100
Mucopolysaccharidosis, Type Ivb
Scoliosis, Platyspondyly, Hyperlordosis, Prominent sternum, Osteoporosis, Joint laxity, Genu valg... OMIM:253010
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Platyspondyly, Anterior rib cupping, Aplasia of the thymus, Autoimmune ... OMIM:102700
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Hypoplastic sacrum, Pectus excavatum, Rib fusion, Thoracic hemivertebrae, Vertebral fu... OMIM:268310
Duane-Radial Ray Syndrome
Scoliosis, Fused cervical vertebrae, Spina bifida occulta OMIM:607323
Osteoporosis, Abnormality of skin pigmentation, Recurrent fractures, Hypercalcemia ORPHA:98292
Faciodigitogenital Syndrome, Autosomal Recessive
Hyperextensible hand joints, Pectus excavatum, Down-sloping shoulders, Camptodactyly, Vertebral f... OMIM:227330
Waardenburg Syndrome Type 1
Scoliosis, Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White eyebr... ORPHA:894
Cole-Carpenter Syndrome
Scoliosis, Wormian bones, Abnormal form of the vertebral bodies, Joint hyperflexibility, Kyphosis... ORPHA:2050
Cartilage-Hair Hypoplasia
Scoliosis, Hypocalcemia, Accelerated skeletal maturation, Narrow chest, Abnormality of the ribs, ... ORPHA:175
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the ribs, Sprengel anomaly, Abnormality of the vertebral column OMIM:601076
Melnick-Needles Syndrome
Scoliosis, Short thorax, Anisospondyly, Narrow chest, Joint hyperflexibility, Delayed cranial sut... ORPHA:2484
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79301
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Increased bone density with cystic changes, Hypocalcemic tetany, Increased bone min... ORPHA:94089
Metaphyseal Chondrodysplasia, Schmid Type
Anterior rib cupping, Platyspondyly, Abnormal vertebral morphology, Irregular vertebral endplates... ORPHA:174
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Mucopolysaccharidosis, Type Iiid
Thickened ribs, Flexion contracture, Ovoid thoracolumbar vertebrae, Joint stiffness, Splenomegaly... OMIM:252940
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia, Hypoglycemia ORPHA:364
3M Syndrome
Scoliosis, Hyperlordosis, Increased vertebral height, Short thorax, Scapular winging, Congenital ... ORPHA:2616
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Brittle hair, Hypocholesterolemia OMIM:618810
Spondyloepimetaphyseal Dysplasia, Missouri Type
Platyspondyly, Limited elbow extension, Irregular sclerotic endplates, Flared, irregular rib ends... OMIM:602111
Apert Syndrome
Humeroradial synostosis, Synostosis of carpal bones, Delayed cranial suture closure, Coronal cran... OMIM:101200
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Abnormality of retinal pigmentation, Narrow chest, Ab... ORPHA:474
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Chondrocalcinosis, Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Infantil... ORPHA:405
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Highly arched eyebrow, Thick hair, Cervical kyphosis, Type II diabetes mell... ORPHA:401923
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Kyphosis, Osteopetrosis, Platyspondyly OMIM:618476
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Hyperbilirubinemia, Red hair OMIM:609734
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Platyspondyly, Wormian bones, Prominent sternum, Thoracic kyphosis, Flexion... OMIM:300232
Mucopolysaccharidosis, Type Vi
Genu valgum, Prominent sternum, Broad ribs, Ovoid vertebral bodies, Anterior wedging of L2, Lumba... OMIM:253200
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Lymphoproliferative disorder, Hemolytic anemia, Autoimmune thrombocyt... OMIM:614470
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of the ribs, Joint hyperflexibility, Decreased calvarial ossification, Recurrent frac... ORPHA:2772
Kaufman Oculocerebrofacial Syndrome
Sparse hair, Congenital hip dislocation, Ovoid vertebral bodies, Bell-shaped thorax, Hypocholeste... OMIM:244450
Three M Syndrome 2
Hyperlordosis, Short thorax, Scapular winging, Pectus carinatum, Lumbar hyperlordosis, Thin ribs,... OMIM:612921
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Abnormal rib cage morphology, Pectus excavatum, Posterior rib fusion, Hemivertebrae OMIM:608406
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly, Anemia of inadequat... OMIM:237800
Renpenning Syndrome
Sprengel anomaly, Pectus excavatum, Abnormal hair laboratory examination, Joint stiffness, Alopec... ORPHA:3242
Dyggve-Melchior-Clausen Disease
Scoliosis, Shield chest, Thoracic kyphosis, Carpal bone hypoplasia, Camptodactyly, Flat acetabula... OMIM:223800
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of the menstrual cycle, Splenomegaly ORPHA:721
Simpson-Golabi-Behmel Syndrome
Scoliosis, Accelerated skeletal maturation, Camptodactyly of finger, Congenital hip dislocation, ... ORPHA:373
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Pigmentary retinopathy, Hypocholesterolemia, Decreased LDL cholesterol conc... ORPHA:96180
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Mandibuloacral Dysplasia
Osteolytic defects of the distal phalanges of the hand, Hypercholesterolemia, Acroosteolysis of d... ORPHA:2457
Achondrogenesis, Type Ii
Horizontal ribs, Barrel-shaped chest, Absent vertebral body mineralization, Short ribs OMIM:200610
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Osteomyelitis, Craniosynostosis, Osteopetrosis, Increased bone mineral density, Pat... OMIM:259700
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Wormian bones, Thoracic hypoplasia, Beaded ribs, Flexion contracture, Short ribs, ... OMIM:616897
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Enlargement of the ankles, Delayed epiphyseal ossification, Rickets, Bulging of... OMIM:600081
Familial Parathyroid Adenoma
Hypophosphatemia, Recurrent fractures, Generalized osteoporosis, Hypercalcemia, Osteopenia, Polya... ORPHA:99877
Follicular Lymphoma
Abnormality of the peritoneum, Weight loss, Splenomegaly, Mediastinal lymphadenopathy, Lymphadeno... ORPHA:545
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal hair morphology, Pectus carinatum, Kyphosis, Uncombable hair, Slow-growing hair, Aplasia... ORPHA:3082
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Hodgkin Lymphoma
Hepatomegaly, Weight loss, Lymphadenopathy, Splenomegaly ORPHA:98293
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Short ribs, Butterfly vertebrae OMIM:607143
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Craniofaciofrontodigital Syndrome
Narrow chest, Abnormality of the ribs, Abnormal shoulder morphology, Hypoplastic vertebral bodies... ORPHA:363705
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:613313
Thanatophoric Dysplasia, Type I
Narrow chest, Wide-cupped costochondral junctions, Short ribs, Severe platyspondyly, Small abnorm... OMIM:187600
Timothy Syndrome
Hypocalcemia, Hypoglycemia OMIM:601005
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hepatomegaly OMIM:614480
Osteogenesis Imperfecta, Type X
Scoliosis, Platyspondyly, Genu valgum, Broad ribs, Narrow chest, Joint laxity, Generalized joint ... OMIM:613848
Cole-Carpenter Syndrome 2
Platyspondyly, Wormian bones, Lambdoidal craniosynostosis, Kyphosis, Pectus excavatum, Thin ribs,... OMIM:616294
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Scoliosis, Platyspondyly, Hyperlordosis, Decreased hip abduction, Limited elbow movement, Abnorma... ORPHA:85167
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Low back pain, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia... ORPHA:86843
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Rickets, Bone pain, Osteomalacia ORPHA:89937
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Poland Syndrome
Scoliosis, Pectus carinatum, Abnormal sternum morphology, Kyphosis, Sprengel anomaly, Retinal ham... ORPHA:2911
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Nail dysplasia, Hypokalemia, Hyperpigmentation of the skin, Alopecia, Hypomagnesemi... OMIM:175500
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Arthrogryposis multiplex congenita, Craniosynostosis, Decreased body weight OMIM:618265
Cenani-Lenz Syndrome
Scoliosis, Radioulnar synostosis, Elbow dislocation, Abnormal form of the vertebral bodies, Synos... ORPHA:3258
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Diabetes mellitus, Back pain, Hyperlipidemia ORPHA:439232
Acrocapitofemoral Dysplasia
Scoliosis, Narrow chest, Pectus carinatum, Delayed ossification of carpal bones, Ovoid vertebral ... OMIM:607778
Brachytelephalangic Chondrodysplasia Punctata
Atlantoaxial instability, Vertebral hypoplasia, Cervical vertebral dysplasia, Cervical spinal can... ORPHA:79345
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Myhre Syndrome
Platyspondyly, Broad ribs, Camptodactyly, Enlarged vertebral pedicles, Vertebral fusion, Joint st... OMIM:139210
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Sprengel anomaly, Thoracolumbar scoliosis, Cervical ribs, Autoimmune thrombocytopenia OMIM:601389
Fibrochondrogenesis 1
Anterior rib cupping, Platyspondyly, Posterior vertebral hypoplasia, Thoracic hypoplasia, Hypopla... OMIM:228520
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Pectus carinatum, Delayed skeletal maturation, Abnormality of the ribs, Limitation... ORPHA:3068
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia, Abnormal vertebral morphology, Bone pain, Pathologic fracture, In... ORPHA:352540
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Monosomy 9Q22.3
Accelerated skeletal maturation, Basal cell carcinoma, Medulloblastoma, Cardiac fibroma, Abnormal... ORPHA:77301
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Platyspondyly, Delayed closure of the anterior fontanelle, Sclerosis of hand bone, Broad ribs, Na... OMIM:224300
Osteogenesis Imperfecta, Type Viii
Scoliosis, Platyspondyly, Wormian bones, Joint laxity, Kyphosis, Recurrent fractures, Thin ribs, ... OMIM:610915
Autoimmune Hypoparathyroidism
Hypocalcemia, Hypocalcemic tetany, Increased bone mineral density, Hyperphosphatemia, Hypocalcemi... ORPHA:36913
Cerebrofaciothoracic Dysplasia
Scoliosis, Low posterior hairline, Narrow chest, Sprengel anomaly, Rib fusion, Coarse hair, Hemiv... ORPHA:1394
Neuroectodermal Melanolysosomal Disease
Generalized hyperpigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Premature ... ORPHA:33445
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Familial Osteodysplasia, Anderson Type
Scoliosis, Abnormal form of the vertebral bodies, Elbow dislocation, Kyphosis, Recurrent fracture... ORPHA:2769
Gracile Bone Dysplasia
Thin ribs, Hypocalcemia, Decreased skull ossification OMIM:602361
Primary Parathyroid Hyperplasia
Hypophosphatemia, Osteoporosis, Chondrocalcinosis, Bone pain, Hypercalcemia ORPHA:99878
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Failure to thrive, Splenomegaly, Anemia OMIM:615085
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Limited elbow extension, Delayed closure of the anterior fontanelle, Wormian bones, Thin ribs, As... OMIM:604922
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia ORPHA:71
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the ribs, Abnormal clavicle morphology ORPHA:276422
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Congenital Disorder Of Glycosylation, Type Ia
Kyphosis, Flexion contracture, Hypocholesterolemia, Hypoalbuminemia, Osteopenia OMIM:212065
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Osteomalacia, Pathologic fracture OMIM:179800
Neutropenia, Anemia, Splenomegaly OMIM:602079
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Narrow chest, Hypertrichosis, Short neck OMIM:235255
Hyperparathyroidism, Transient Neonatal
Thin ribs, Osteopenia, Short ribs, Narrow chest OMIM:618188
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Failure to thrive, Splenomegaly OMIM:228000
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hyperammonemia, Hypoglycemia, Abnormal circulating leucine concentration ORPHA:6
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Wolf-Hirschhorn Syndrome
Scoliosis, Hemangioma, Accessory spleen, Radioulnar synostosis, Abnormal form of the vertebral bo... OMIM:194190
Pontine Tegmental Cap Dysplasia
Scoliosis, Rib fusion, Ankle clonus, Hemivertebrae, Failure to thrive OMIM:614688
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79303
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Enlargement of the ankles, Delayed epiphyseal ossification, Generalized aminoac... OMIM:264700
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Bartter Syndrome, Type 1, Antenatal
Chondrocalcinosis, Increased circulating renin level, Increased serum prostaglandin E2, Hyperaldo... OMIM:601678
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Elevated circulating sebacic acid concentration, Increased serum pyruvate, Elevat... OMIM:615160
Alagille Syndrome
Abnormal form of the vertebral bodies, Spina bifida occulta, Failure to thrive, Abnormality of th... ORPHA:52
X-Linked Agammaglobulinemia
Hypocalcemia, Alopecia, Hypopigmented skin patches, Osteomyelitis, Arthritis ORPHA:47
Holzgreve Syndrome
Abnormality of the ribs, Abnormally ossified vertebrae, Joint stiffness ORPHA:2167
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Gout, Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:613673
Campomelia, Cumming Type
Abnormality of the ribs, Abnormally ossified vertebrae, Myelodysplasia, Abnormal thorax morphology ORPHA:1318
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Hypogonadism, Splenomegaly OMIM:608540
Lethal Congenital Contracture Syndrome 10
Broad ribs, Narrow chest, Hypoplasia of the thymus, Stiff neck, Short neck, Thoracic scoliosis OMIM:617022
Mucolipidosis Iii Alpha/Beta
Scoliosis, Craniosynostosis, Irregular carpal bones, Broad ribs, Carpal bone hypoplasia, Short ri... OMIM:252600
Acro-Renal-Mandibular Syndrome