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Gene: Ano6 MGI:2145890

Gene Summary

Name:

anoctamin 6

Synonyms:

Tmem16f, 2900059G15Rik, F730003B03Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, incomplete penetrance	Ano6^em3(IMPC)Tcp	HOM	Early adult	0.00
shortened PQ interval	Ano6^em3(IMPC)Tcp	HET	Early adult	6.17×10^-05
enlarged lymph nodes	Ano6^em3(IMPC)Tcp	HET	Early adult	0.00
abnormal cholesterol homeostasis	Ano6^em3(IMPC)Tcp	HET	Early adult	8.97×10^-11

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Skull Lateral Orientation

11 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Gross Pathology and Tissue Collection

Images

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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Histopathology

Images

1 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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Human diseases caused by Ano6 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Ano6 (1 diseases)
Human diseases predicted to be associated with Ano6 (947 diseases)

The table below shows human diseases associated to Ano6 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Scott Syndrome		Abnormal bleeding	OMIM:262890

The table below shows human diseases predicted to be associated to Ano6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Von Willebrand Disease, X-Linked Form	Prolonged bleeding time, Abnormal bleeding	OMIM:314560
Tatsumi Factor Deficiency	Prolonged bleeding time, Abnormal bleeding	OMIM:272650
Athrombia, Essential	Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe...	OMIM:209050
Glanzmann Thrombasthenia 2	Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, D...	OMIM:619267
Von Willebrand Disease, Platelet-Type	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Bleeding Disorder, Platelet-Type, 18	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Men...	OMIM:615888
Platelet Glycoprotein Iv Deficiency	Prolonged bleeding time, Thrombocytopenia, Giant platelets, Abnormal bleeding	OMIM:608404
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal h...	ORPHA:231393
Thrombocytopenia 7	Post-partum hemorrhage, Impaired ADP-induced platelet aggregation, Impaired collagen-induced plat...	OMIM:619130
Bleeding Disorder, Platelet-Type, 11	Abnormal platelet count, Impaired collagen-induced platelet aggregation, Menorrhagia, Epistaxis, ...	OMIM:614201
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Purpura, Impaired epinephrine-induced platelet aggregation, Impaired...	OMIM:273800
Thrombocytopenia 9	Abnormal bleeding, Thrombocytopenia, Abnormal platelet aggregation	OMIM:620478
Bleeding Disorder, Platelet-Type, 22	Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Impaired ADP-induced plate...	OMIM:618462
Platelet Signal Processing Defect	Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel...	OMIM:173590
Scott Syndrome	Abnormal bleeding	OMIM:262890
Bernard-Soulier Syndrome	Purpura, Abnormal bleeding, Giant platelets, Gastrointestinal hemorrhage, Gingival bleeding, Meno...	OMIM:231200
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impa...	OMIM:619271
Osseous Heteroplasia, Progressive	Ectopic ossification in muscle tissue, Ankylosis, Limb undergrowth	OMIM:166350
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre...	OMIM:615193
Platelet Disorder, Undefined	Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia	OMIM:173420
Thrombocythemia 1	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp...	OMIM:187950
Metatropic Dysplasia	Narrow greater sciatic notch, Relatively short spine, Short ribs, Long coccyx, Cupped ribs, Flare...	OMIM:156530
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Thrombocytopenia, Macrothromb...	OMIM:124900
Thoracomelic Dysplasia	Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg...	ORPHA:1803
Congenital Radioulnar Synostosis	Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ...	ORPHA:3269
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Abnormal bleeding, Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced pla...	OMIM:155100
Kyphomelic Dysplasia	Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Short thorax, Limitation of ...	ORPHA:1801
Glanzmann Thrombasthenia	Spontaneous hematomas, Purpura, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Gi...	ORPHA:849
Metaphyseal Anadysplasia	Abnormal metaphysis morphology, Abnormal ulnar metaphysis morphology, Bowing of the long bones, J...	ORPHA:1040
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Abnormal platelet count, Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis...	OMIM:614009
Bleeding Disorder, Platelet-Type, 8	Abnormal bleeding, Impaired ADP-induced platelet aggregation, Ecchymosis, Epistaxis, Persistent b...	OMIM:609821
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, Br...	OMIM:617405
Chondrodysplasia, Blomstrand Type	Stillbirth, Narrow chest, Flared metaphysis, Squared iliac bones, Short ribs, Micromelia, Microgn...	OMIM:215045
Von Willebrand Disease, Type 3	Abnormal bleeding, Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Thrombocytopenia...	OMIM:277480
Bleeding Disorder, Platelet-Type, 25	Excessive bleeding from superficial cuts, Post-partum hemorrhage, Spontaneous, recurrent epistaxi...	OMIM:620486
Factor V Deficiency	Prolonged prothrombin time, Abnormal bleeding, Menorrhagia, Epistaxis, Bruising susceptibility, P...	OMIM:227400
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Abnormal bleeding, Giant platelets, Anemia, Impaired platelet aggregation,...	OMIM:187800
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Genu valgum, Delayed pubic bone ossification, Proximal placement of thumb, Talipes equinovarus, H...	OMIM:613330
Axial Spondylometaphyseal Dysplasia	Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short...	ORPHA:168549
Achondrogenesis Type 2	Abnormal bone ossification, Delayed pubic bone ossification, Narrow chest, Short ribs, Short long...	ORPHA:93296
Eiken Syndrome	Metaphyseal irregularity, Abnormal bone ossification, Fibular hypoplasia, Cubitus valgus, Delayed...	ORPHA:79106
Heart-Hand Syndrome Type 2	Abnormal clavicle morphology, Short 4th metacarpal, Abnormality of the wrist, Abnormal shoulder m...	ORPHA:1350
Thrombocytopenia With Beta-Thalassemia, X-Linked	Petechiae, Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thro...	OMIM:314050
Storage Pool Platelet Disease	Decreased mean platelet volume, Prolonged bleeding time, Abnormal bleeding, Acute leukemia	OMIM:185050
Gray Platelet Syndrome	Abnormal bleeding, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granu...	OMIM:139090
Hypophosphatemic Rickets, X-Linked Dominant	Rickets, Hypophosphatemic rickets, Fibular bowing, Genu valgum, Cupped metaphyses of hand bones, ...	OMIM:307800
Bleeding Disorder, Platelet-Type, 17	Abnormal bleeding, Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation...	OMIM:187900
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ...	OMIM:607778
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Short ribs, Flat acetabular roof, Short long bone, Dumbbell-shaped long bone, Hypoplastic ischia,...	OMIM:151210
Radioulnar Synostosis, Nonsyndromic, Susceptibility To	Limited pronation/supination of forearm, Radioulnar synostosis	OMIM:179300
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o...	OMIM:300554
Hypocalcemic Vitamin D-Resistant Rickets	Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Joint dislocation, Bon...	ORPHA:93160
Achondrogenesis, Type Ib	Stillbirth, Absent or minimally ossified vertebral bodies, Narrow chest, Short ribs, Hypoplastic ...	OMIM:600972
Prothrombin Deficiency, Congenital	Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Menorrhagia, Joint he...	OMIM:613679
Boomerang Dysplasia	Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca...	ORPHA:1263
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l...	ORPHA:174
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Femur-Fibula-Ulna Complex	Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh...	ORPHA:2019
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Death in childhood, Narrow chest, Short long bone, Short ribs, Coarse metaphyseal trabecularizati...	OMIM:618961
Hypophosphatasia, Adult	Rickets, Pathologic fracture, Arthropathy, Osteomalacia, Recurrent fractures, Chondrocalcinosis, ...	OMIM:146300
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia	OMIM:614896
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Large fontanelles, Death in childhood, Wide distal femoral metaphysis, Bell-shaped thorax, Delaye...	OMIM:613320
Thrombocytopenia, Paris-Trousseau Type	Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia	OMIM:188025
Achondrogenesis, Type Ia	Hypoplastic sacrum, Broad clavicles, Abnormal hand bone ossification, Short ribs, Decreased skull...	OMIM:200600
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Subperiosteal bone resorption, Enlargement of the costochondral junction, Delayed epiphy...	ORPHA:289157
Slc35A1-Cdg	Abnormal bleeding, Giant platelets, Abnormal platelet granules, Subcutaneous hemorrhage, Thromboc...	ORPHA:238459
Atrial Fibrillation, Familial, 11	Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged...	OMIM:614049
Schneckenbecken Dysplasia	Lateral clavicle hook, Stillbirth, Narrow chest, Snail-like ilia, Short ribs, Short long bone, Fl...	OMIM:269250
Thoracic Dysostosis, Isolated	Short ribs, Bell-shaped thorax, Pectus excavatum	OMIM:187750
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Ulnar deviated club hands, Genu valgum, Arthralgia of ...	ORPHA:166002
Hermansky-Pudlak Syndrome 7	Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Epistaxis, Bruising susceptib...	OMIM:614076
Bone Dysplasia, Lethal Holmgren Type	Abnormality of the hand, Abnormal thumb morphology, Abnormal femur morphology, Rhizomelia, Abnorm...	ORPHA:1842
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short ribs, Short long bone, Dumbbell-shaped long bone, Hypoplastic...	OMIM:228520
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Joint sti...	ORPHA:1275
Spondyloepimetaphyseal Dysplasia, Shohat Type	Narrow greater sciatic notch, Bell-shaped thorax, Delayed epiphyseal ossification, Flared metaphy...	OMIM:602557
Thoracomelic Dysplasia	Short ribs, Bell-shaped thorax	OMIM:273740
Fibrochondrogenesis 2	Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Cup...	OMIM:614524
Thanatophoric Dysplasia, Type Ii	Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costochondral junctions...	OMIM:187601
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim...	OMIM:600785
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Reduced bone mineral density, Osteomalacia, Rachitic rosary, Pathologic...	ORPHA:157215
Pseudoachondroplasia	Short long bone, Flat acetabular roof, Increased laxity of ankles, Hypoplastic pelvis, Joint stif...	ORPHA:750
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Short ribs, Short long bone, Cupped ribs, Metaphyseal irregularity, Joint hypermobility, Genu var...	OMIM:250420
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat...	ORPHA:2585
Dermatosparaxis Ehlers-Danlos Syndrome	Rickets, Osteopenia, Joint dislocation, Osteomalacia, Osteoporosis, Coxa vara, Joint stiffness, M...	ORPHA:1901
Fibular Aplasia-Complex Brachydactyly Syndrome	Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma...	ORPHA:2639
Atelosteogenesis Type Ii	Sandal gap, Tracheobronchomalacia, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shap...	ORPHA:56304
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Enlargement of the costochondral junction, Fibular bowing, Delayed epiphyseal ossificati...	OMIM:600081
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Flared metaphysis, Short ribs, Decreased skull ossification, Intrauterine growth reta...	OMIM:616897
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2-3 toe syndactyly, Short ri...	OMIM:617866
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Narro...	ORPHA:66637
Dent Disease 1	Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement ...	OMIM:300009
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Abnormality of the humeroulnar joint...	ORPHA:1570
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ...	ORPHA:93351
Langer Mesomelic Dysplasia	Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, Bowing of t...	ORPHA:2632
Hypophosphatasia, Infantile	Stillbirth, Unossified vertebral bodies, Metaphyseal cupping, Short ribs, Micromelia, Decreased c...	OMIM:241500
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Purpura, Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, P...	OMIM:601399
Long Qt Syndrome 2	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril...	OMIM:613688
Dysosteosclerosis	Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Delayed closure of the anterior fon...	OMIM:224300
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Wormian bones, Osteoporosis, Short distal phalanx of finger, Brachydactyly, Joint hypermobility	ORPHA:2787
Quebec Platelet Disorder	Impaired epinephrine-induced platelet aggregation, Menorrhagia, Joint hemorrhage, Thrombocytopeni...	OMIM:601709
Greenberg Dysplasia	Short ribs, Short long bone, Decreased skull ossification, Short metacarpal, Multiple prenatal fr...	OMIM:215140
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Thin ribs, Hypoplasia ...	OMIM:300863
Ophthalmoplegia, External, With Rib And Vertebral Anomalies	Pectus carinatum, Short ribs, Pectus excavatum, Missing ribs, Pseudoarthrosis	OMIM:618155
Mesomelic Limb Shortening And Bowing	Mesomelic arm shortening, Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing...	OMIM:249710
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Large fontanelles, Delayed cranial suture closu...	ORPHA:2249
Greenberg Dysplasia	Abnormal bone ossification, Rhizomelia, Narrow chest, Abnormal pelvis bone ossification, Anterior...	ORPHA:1426
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card...	OMIM:611819
Spondylometaphyseal Dysplasia, A4 Type	Limitation of joint mobility, Coxa vara, Micromelia, Flared, irregular rib ends, Short palm	ORPHA:168555
Lethal Recessive Chondrodysplasia	Narrow chest, Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowt...	ORPHA:1423
Prieto Syndrome	Radial deviation of finger, 11 pairs of ribs, Talipes equinovarus, Osteoporosis, Patellar disloca...	OMIM:309610
Bleeding Disorder, Platelet-Type, 12	Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Epistaxis, Intestinal bleeding, Bru...	OMIM:605735
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Broad metacarpals, Short metacarpal, Short phalanx of finger, Broad phalanx, In...	OMIM:618724
Humero-Radio-Ulnar Synostosis	Abnormal thumb morphology, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the thumb, Upper...	ORPHA:3266
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli...	ORPHA:240
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Narrow chest, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly,...	OMIM:611263
Thoracolaryngopelvic Dysplasia	Bell-shaped thorax, Hypoplastic iliac wing, Short ribs, Hypoplastic pelvis, Irregular chondrocost...	OMIM:187760
Metaphyseal Chondrodysplasia, Spahr Type	Abnormal metaphysis morphology, Reduced bone mineral density, Bowing of the long bones, Short low...	ORPHA:2501
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Seckel Syndrome 4	Intrauterine growth retardation, Steep acetabular roof, 11 pairs of ribs	OMIM:613676
Bleeding Disorder, Platelet-Type, 21	Abnormal bleeding, Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Incr...	OMIM:617443
Hypophosphatemic Rickets, Autosomal Dominant	Rickets, Osteomalacia, Hypophosphatemic rickets	OMIM:193100
Hemophilia B	Cephalohematoma, Spontaneous, recurrent epistaxis, Delayed onset bleeding, Joint hemorrhage, Intr...	ORPHA:98879
Fibrous Dysplasia Of Bone	Rickets, Abnormal clavicle morphology, Abnormal femur morphology, Abnormal tibia morphology, Oste...	ORPHA:249
Moyamoya Disease With Early-Onset Achalasia	Thrombocytopenia, Abnormal platelet aggregation	ORPHA:401945
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Epista...	OMIM:193400
Poland Syndrome	Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Sprengel anomaly, Syndactyly, ...	OMIM:173800
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh...	OMIM:118651
Ulnar Hemimelia	Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim...	ORPHA:93320
Mesomelic Dysplasia, Nievergelt Type	Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm...	ORPHA:2633
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Thin ribs, Short ribs, Femoral b...	OMIM:620076
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr...	ORPHA:45453
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Narrow greater sciatic notch, Narrow chest, Short ribs, Limitation of joint mobility, Short long ...	OMIM:224400
Astley-Kendall Dysplasia	Micromelia, Epiphyseal stippling	ORPHA:85175
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Abnormal carpal morphol...	OMIM:127300
Achondrogenesis, Type Ii	Short tubular bones of the hand, Stillbirth, Barrel-shaped chest, Hypoplastic iliac wing, Short r...	OMIM:200610
Infantile Systemic Hyalinosis	Osteopenia, Osteoporosis, Micromelia, Joint stiffness, Camptodactyly of finger, Short palm, Brach...	ORPHA:2176
Ophthalmomandibulomelic Dysplasia	Ulnar deviated club hands, Abnormality of bone mineral density, Limitation of joint mobility, Syn...	ORPHA:2741
Microcephaly, Short Stature, And Limb Abnormalities	Hypoplasia of the radius, Clinodactyly of the 5th finger, 11 pairs of ribs, Patellar hypoplasia, ...	OMIM:617604
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop...	ORPHA:85188
Sick Sinus Syndrome 4	Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma...	OMIM:619464
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Abnormality of the hand, Hypoplasia of the radius, Aplasia/hypoplasia inv...	ORPHA:75508
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Hypoplastic ilia, Micr...	OMIM:617895
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limited elbow extension, Pectus excavatum, Limb undergrowth, Thoracic hypoplasia, Enlarged joints...	ORPHA:156728
Fetal Akinesia Deformation Sequence 4	Rocker bottom foot, 11 pairs of ribs, Prenatal death, Camptodactyly, Micrognathia, Neonatal death...	OMIM:618393
Thoracopelvic Dysostosis	Short ribs	OMIM:187770
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Petechiae, Gingival bleeding, Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increa...	OMIM:153670
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Myh9-Related Disease	Neutrophil inclusion bodies, Giant platelets, Spontaneous, recurrent epistaxis, Increased mean pl...	ORPHA:182050
Autosomal Recessive Hypophosphatemic Rickets	Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Enlargement of the wrists...	ORPHA:289176
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Sho...	OMIM:250220
Grant Syndrome	Large fontanelles, Abnormal cortical bone morphology, Narrow chest, Joint dislocation, Wormian bo...	ORPHA:2097
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Hypophosphatemic rickets, Enlargement of the costochondral junction, Fibular bowing, Del...	OMIM:241530
Brugada Syndrome 9	Presyncope, ST segment elevation, Prolonged QT interval, Palpitations	OMIM:616399
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones...	ORPHA:2634
Bernard-Soulier Syndrome	Hematemesis, Spontaneous hematomas, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platele...	ORPHA:274
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Fibrochondrogenesis	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ...	ORPHA:2021
Long Qt Syndrome 14	2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card...	OMIM:616247
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Osteomalacia, Bowing of the legs	ORPHA:89937
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Mesomelic Dysplasia, Kantaputra Type	Abnormal fibula morphology, Tarsal synostosis, Cubitus valgus, Clinodactyly of the 5th finger, Du...	ORPHA:1836
Long Qt Syndrome 13	Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn...	OMIM:613485
Three M Syndrome 1	Clinodactyly of the 5th finger, Spina bifida occulta, Slender long bone, Joint dislocation, Short...	OMIM:273750
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal cortic...	ORPHA:3344
Occipital Horn Syndrome	Pectus carinatum, Large iliac wing, Pectus excavatum, Absent tibia, Aplasia/hypoplasia of the hum...	ORPHA:198
Fibular Hemimelia	Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog...	ORPHA:93323
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes	OMIM:220400
Long Qt Syndrome 6	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c...	OMIM:613693
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ...	ORPHA:2141
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Pectus carinatum, Pectus excavatum, Decreased calvarial ossification, Multip...	OMIM:259440
Renal Tubular Acidosis, Proximal	Rickets, Osteomalacia	OMIM:179830
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P...	OMIM:613980
Robin Sequence-Oligodactyly Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Finger aplasia, Micrognathia, Abn...	ORPHA:3104
Metatropic Dysplasia	Abnormal metaphysis morphology, Abnormal cortical bone morphology, Clinodactyly of the 5th finger...	ORPHA:2635
Ring Chromosome 4 Syndrome	Abnormality of the upper limb, Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the...	ORPHA:1447
Chondrodysplasia With Joint Dislocations, Gpapp Type	Limited elbow extension, Genu valgum, Irregular epiphyses of the metacarpals, Hitchhiker thumb, S...	OMIM:614078
Dyssegmental Dysplasia, Silverman-Handmaker Type	Narrow chest, Clubbing of fingers, Hypoplastic pubic bone, Pterygium, Miscarriage, Short long bon...	ORPHA:1865
Wolff-Parkinson-White Syndrome	Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu...	OMIM:194200
Blue Rubber Bleb Nevus	Prolonged bleeding time, Microcytic anemia, Intestinal bleeding	ORPHA:1059
Essential Thrombocythemia	Acute leukemia, Abnormal bleeding, Thrombocytosis, Leukocytosis, Abnormal platelet morphology, Sp...	ORPHA:3318
Ulnar Hypoplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis...	OMIM:191440
Osteogenesis Imperfecta, Type Ii	Absent ossification of calvaria, Large fontanelles, Bell-shaped thorax, Crumpled long bones, Thin...	OMIM:166210
Achondroplasia	Limited elbow extension, Narrow greater sciatic notch, Rhizomelia, Ulnar bowing, Flared metaphysi...	OMIM:100800
Craniosynostosis, Adelaide Type	Cone-shaped epiphyses of the phalanges of the hand, Shortening of all middle phalanges of the fin...	OMIM:600593
Metaphyseal Anadysplasia 2	Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg...	OMIM:613073
Blomstrand Lethal Chondrodysplasia	Rhizomelia, Narrow chest, Flared metaphysis, Increased bone mineral density, Metaphyseal cupping,...	ORPHA:50945
Pyknoachondrogenesis	Short iliac bones, Craniofacial hyperostosis, Abnormal iliac wing morphology, Short thorax, Short...	ORPHA:3003
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Pectus carinatum, Triangular shaped distal phalanges of the hand, Short ribs, Short long bone, Sh...	OMIM:271665
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Reduced bone mineral density, Delayed ossification of carpal bones, Irregular acetabular roof, Me...	OMIM:617974
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Lateral clavicle hook, Genu valgum, Bell-shaped thorax, Cone-shaped epiphyses of the phalanges of...	OMIM:615630
Pallister-Hall-Like Syndrome	Short ribs, Postaxial hand polydactyly, Micromelia, Death in infancy, Micrognathia, Toe syndactyl...	OMIM:241800
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Short ribs, Elbow flexion contracture, Cupped ribs, Interphalangeal jo...	ORPHA:1145
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Thanatophoric Dysplasia, Type I	Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costochondral junctions...	OMIM:187600
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M...	OMIM:249700
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Menorrhagia, Thrombocy...	OMIM:614074
Hereditary Sensory And Autonomic Neuropathy Type 2	Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Wo...	ORPHA:970
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Enlargement of the costochondral junction, Fibular bowing, Delayed epiphyseal ossificati...	OMIM:264700
Cleidocranial Dysplasia 1	Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ...	OMIM:119600
Congenital Factor Ii Deficiency	Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Anemia, Excessive bleeding from s...	ORPHA:325
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Clinodactyly of the 5th finger, Clubbing of fingers, Metaphyseal cupping, Short ribs,...	OMIM:156400
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib...	OMIM:607554
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v...	OMIM:604400
Brugada Syndrome 3	J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi...	OMIM:611875
Long Qt Syndrome 11	Syncope, Prolonged QTc interval	OMIM:611820
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared m...	OMIM:602111
Van Den Ende-Gupta Syndrome	Dislocated radial head, Short ribs, Femoral bowing, Pectus excavatum, Arachnodactyly, Slender met...	OMIM:600920
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Narrow chest, Flared metaphysis, Wide anterior fontanel, Mesomelic/r...	ORPHA:2347
Hermansky-Pudlak Syndrome 9	Thrombocytopenia, Leukopenia, Abnormal platelet aggregation	OMIM:614171
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Thickened cortex of long bones, Mandibular osteomyelitis, R...	ORPHA:53697
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Abnormal cortical bone morphology, Upper limb undergrowth, Wormian bones, Limitation of joint mob...	ORPHA:166277
Hermansky-Pudlak Syndrome 3	Abnormal bleeding, Impaired platelet aggregation, Spontaneous, recurrent epistaxis, Gingival blee...	OMIM:614072
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Limited elbow extension, Narrow greater sciatic notch, Irregular epiphyses, Dysplastic iliac wing...	OMIM:608728
Von Willebrand Disease	Gastrointestinal hemorrhage, Muscle hemorrhage, Petechiae, Abnormal platelet function, Menorrhagi...	ORPHA:903
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Hypoplasia of the radius, Tarsal synostosis, Fibular hypopl...	OMIM:112910
Long Qt Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy...	OMIM:192500
Microcephaly-Micromelia Syndrome	Narrow chest, Oligodactyly, Missing ribs, Micromelia, Humeroradial synostosis, Forearm undergrowt...	OMIM:251230
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polydactyly, Narrow chest, Short long bone, Short ribs, Flat acetabular roof, Bowing of the long ...	OMIM:614091
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ...	OMIM:611528
Spondyloepiphyseal Dysplasia, Kimberley Type	Abnormal epiphysis morphology, Osteoarthritis, Short thorax, Micromelia	ORPHA:93283
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Recurrent fractures, Osteomalacia	OMIM:613388
Brugada Syndrome 7	Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Hyperparathyroidism, Transient Neonatal	Osteopenia, Subperiosteal bone formation, Narrow chest, Thin ribs, Short ribs, Undulate ribs, Fra...	OMIM:618188
Ophthalmomandibulomelic Dysplasia	Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad...	OMIM:164900
Pseudoachondroplasia	Short long bone, Short metacarpal, Metaphyseal irregularity, Short distal phalanx of finger, Join...	OMIM:177170
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra...	ORPHA:45452
Vitamin D-Dependent Rickets, Type 2A	Rickets, Fibular bowing, Delayed epiphyseal ossification, Bulging of the costochondral junction, ...	OMIM:277440
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Osteoarthritis of the elbow, Abnormality of the wrist, Hip osteoarthritis, Joint subl...	ORPHA:2619
Spondylometaphyseal Dysplasia, Pagnamenta Type	Short 4th metacarpal, Rhizomelia, Femoral bowing, Thoracic kyphosis, Broad thumb, Wormian bones, ...	OMIM:619638
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
Diastrophic Dysplasia	Proximal placement of thumb, Joint stiffness, Symphalangism affecting the phalanges of the hand, ...	ORPHA:628
Dent Disease	Rickets, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement of the ankles, E...	ORPHA:1652
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal shoulder morphology, Micrognathia, Mesomelia, Brachydactyly, Long thorax	ORPHA:1277
Autosomal Recessive Kenny-Caffey Syndrome	Thin clavicles, Calvarial osteosclerosis, Thin ribs, Delayed cranial suture closure, Decreased sk...	ORPHA:93324
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P...	OMIM:614021
Meier-Gorlin Syndrome 1	Absent sternal ossification, Pectus carinatum, Short ribs, Death in infancy, Joint hypermobility,...	OMIM:224690
Fibular Aplasia-Ectrodactyly Syndrome	Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Aplasia Cutis Congenita	Prolonged bleeding time	ORPHA:1114
Neu-Laxova Syndrome	Rickets, Osteopenia, Pterygium, Osteoporosis, Micromelia, Micrognathia, Large hands, Flexion cont...	ORPHA:2671
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Femoral ...	OMIM:613091
Hypochondroplasia	Abnormal metaphysis morphology, Abnormal femur morphology, Abnormality of the elbow, Abnormal pel...	ORPHA:429
Pyle Disease	Limited elbow extension, Reduced bone mineral density, Cubitus valgus, Genu valgum, Hypoplastic f...	OMIM:265900
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density	OMIM:241520
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Death in childhood, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Elbow flexion...	OMIM:616809
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Rhizomelia, Narrow chest, Angulated humerus, Wormian bones, Short long bone, Bowing o...	OMIM:616229
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Multiple Epiphyseal Dysplasia Type 4	Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Abnormal forearm bone morphol...	ORPHA:93307
Cdags Syndrome	Large fontanelles, Lambdoidal craniosynostosis, Short clavicles, Delayed cranial suture closure, ...	OMIM:603116
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Schneckenbecken Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Lateral clavicle ...	ORPHA:3144
Acrocapitofemoral Dysplasia	Narrow chest, Short thorax, Pectus carinatum, Pectus excavatum, Flared iliac wing, Micromelia, Ab...	ORPHA:63446
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Limb undergrowth, Abnormal cortical bone morphology, Abnormal lim...	ORPHA:2204
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of...	OMIM:609616
Mucolipidosis Iii Alpha/Beta	Carpal bone hypoplasia, Short long bone, Short ribs, Limitation of joint mobility, Split hand, Ir...	OMIM:252600
Osteogenesis Imperfecta, Type Xxi	Bell-shaped thorax, Barrel-shaped chest, Wormian bones, Pectus excavatum, Osteoporosis, Coxa vara...	OMIM:619131
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Irregular epiphyses, Early oss...	OMIM:208500
Poland Syndrome	Aplasia of the pectoralis major muscle, Reduced bone mineral density, Asymmetry of the thorax, Ab...	ORPHA:2911
Jeune Syndrome	Abnormal metaphysis morphology, Abnormal clavicle morphology, Narrow chest, Short thorax, Abnorma...	ORPHA:474
Acrorenal Syndrome	Abnormal tibia morphology, Split hand, Micrognathia, Abnormal morphology of ulna, Aplasia/Hypopla...	ORPHA:971
Nathalie Syndrome	Abnormal EKG	OMIM:255990
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Lateral clavicle hook, Preaxial polydactyly, Narrow chest, Femoral bowing, Short ribs, Short long...	OMIM:615503
Ellis-Van Creveld Syndrome	Genu valgum, Talipes equinovarus, Narrow chest, Hypoplastic iliac wing, Pectus carinatum, Short l...	OMIM:225500
Odontochondrodysplasia 1	Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car...	OMIM:184260
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Long clavicles, Prominent protruding coccyx, Bell-shaped thorax,...	ORPHA:2839
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Bilateral single transverse palmar creases, Aplasia/hypoplasia of the femur, Broad distal phalanx...	ORPHA:2636
Osteogenesis Imperfecta, Type Xxii	Reduced bone mineral density, Slender long bone, Bowing of the long bones, Intrauterine growth re...	OMIM:619795
Atelosteogenesis, Type I	Tibial bowing, Clubbing, Short metacarpal, Short humerus, Thoracic hypoplasia, Fibular aplasia, S...	OMIM:108720
Acromesomelic Dysplasia, Hunter-Thompson Type	Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Cu...	ORPHA:968
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Metatarsus adductus, Radial head subluxation, Mesomelia, Radiouln...	OMIM:163400
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Absent toe, Short ribs, Hypoplastic pelvis, Syndactyly, 4-5 toe syndactyly, Mild intrauterine gro...	OMIM:308050
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal metaphysis morphology, Abnormal hip bone morphology, Abnormal metacarpal morphology, Bow...	ORPHA:2631
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El...	OMIM:300835
Cardiomyopathy, Dilated, 1Nn	Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri...	OMIM:615916
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo...	OMIM:201250
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Short tubular bones of the hand, Abnormal diaphysis morphology, Increased bone minera...	ORPHA:85184
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Stillbirth, Pectus carinatum, Pectus excavatum, Decreased calvarial ossification, Multiple prenat...	OMIM:259410
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Na...	OMIM:617925
Neurofibromatosis-Noonan Syndrome	Prolonged bleeding time	ORPHA:638
Muscular Dystrophy, Becker Type	Cardiomyopathy, Abnormal EKG, Arrhythmia	OMIM:300376
Ulna Metaphyseal Dysplasia Syndrome	Abnormal metaphysis morphology, Abnormal fibula morphology, Abnormal hip bone morphology, Abnorma...	ORPHA:1837
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Wormian bones, Recurrent fractures	ORPHA:2773
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Immunodeficiency 81	Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Decreased pro...	OMIM:619374
X-Linked Hypophosphatemia	Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis,...	ORPHA:89936
Coxoauricular Syndrome	Reduced bone mineral density, Abnormal femur morphology, Abnormal pelvic girdle bone morphology, ...	ORPHA:1508
Acrocephalopolydactyly	Genu recurvatum, Short long bone, Limb undergrowth, Thoracic hypoplasia, Brachydactyly, Premature...	ORPHA:221054
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, B...	OMIM:616300
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl...	ORPHA:2098
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Reduced bone mineral density, Pectus carinatum, Delayed ossification of carpal bones, Short femor...	OMIM:618392
Long Qt Syndrome 16	Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia	OMIM:618782
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra...	ORPHA:85170
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Bone marrow...	ORPHA:3226
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Bruck Syndrome 2	Osteopenia, Pterygium, Pectus carinatum, Elbow flexion contracture, Femoral bowing, Flexion contr...	OMIM:609220
Spondylocostal Dysostosis 5	Pectus carinatum, Missing ribs, Supernumerary ribs, Posterior rib fusion, Vertebral fusion	OMIM:122600
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Short ribs, Femoral bowing, Tibial bowing, Short metacarpal, Pectus excavatum...	OMIM:304120
Autosomal Recessive Omodysplasia	Abnormal metaphysis morphology, Abnormal femur morphology, Rhizomelia, Pterygium, Micromelia, Mic...	ORPHA:93329
Brachydactyly, Type B1	Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplasti...	OMIM:113000
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular...	OMIM:615441
Osteogenesis Imperfecta, Type V	Osteopenia, Anterior radial head dislocation, Hyperextensibility of the finger joints, Wormian bo...	OMIM:610967
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wide anterior fontanel, Bilateral talipes equinovarus, Mesomelia, Limb undergrowth, Shortening of...	OMIM:601356
Acrodysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metaphysis morphology, Abnormal femur ...	ORPHA:950
Cooper-Jabs Syndrome	Reduced bone mineral density, Abnormal hip bone morphology, Proximal placement of thumb, Missing ...	ORPHA:1488
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ...	OMIM:612347
Hao-Fountain Syndrome	Large fontanelles, Hallux valgus, Clinodactyly of the 5th finger, Delayed cranial suture closure	OMIM:616863
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death	OMIM:600919
Brugada Syndrome 6	ST segment elevation, Cardiac arrest, Ventricular fibrillation	OMIM:613119
Nail-Patella Syndrome	Limited elbow extension, Thickening of the lateral border of the scapula, Clinodactyly of the 5th...	OMIM:161200
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud...	OMIM:609620
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Abnormality of cranial sutures, Abnormal bone ossification, Abnormal femoral neck/head morphology...	ORPHA:163649
Kyphomelic Dysplasia	Lateral clavicle hook, Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, P...	OMIM:211350
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal metaphysis morphology, Reduced bone mineral density, Clinodactyly of the 5th finger, Abn...	ORPHA:2370
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Reduced bone mineral density, Premature epimetaphyseal fusio...	ORPHA:85435
Achondrogenesis Type 1A	Narrow chest, Short thorax, Short foot, Abnormal enchondral ossification, Micromelia, Multiple ri...	ORPHA:93299
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Rhizomelic leg shortening, Long clavicles, Bell-shaped thorax, Early ossification of capital femo...	ORPHA:397715
Atrial Standstill	Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection...	ORPHA:1344
Long Qt Syndrome 12	Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes	OMIM:612955
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Atelosteogenesis, Type Ii	Stillbirth, Sandal gap, Bifid humerus, Short greater sciatic notch, Hitchhiker thumb, Flat acetab...	OMIM:256050
Weaver Syndrome	Radial deviation of finger, Hypoplastic iliac wing, Short ribs, Prominent fingertip pads, Limited...	OMIM:277590
Brugada Syndrome 8	Ventricular tachycardia, Right bundle branch block, ST segment elevation	OMIM:613123
Long Qt Syndrome 5	Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,...	OMIM:613695
Achondrogenesis Type 1B	Narrow chest, Short thorax, Abnormal enchondral ossification, Abnormal rib morphology, Micromelia...	ORPHA:93298
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Femoral bowing, Wormian bones, Bowing of the long bones, Generalized osteoporosis, Mic...	OMIM:617952
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Pectus carinatum, Hypermobility of interphalangeal joint...	OMIM:613849
Meier-Gorlin Syndrome 3	Patellar hypoplasia, Talipes equinovarus, Tracheomalacia, Absent sternal ossification, Slender lo...	OMIM:613803
Rhizomelic Chondrodysplasia Punctata	Abnormal metaphysis morphology, Rhizomelia, Spina bifida occulta, Epiphyseal stippling, Limitatio...	ORPHA:177
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Joint stiffness, Sprengel anomaly, Brachydactyly, Joint hypermobility, ...	ORPHA:40
Factor X Deficiency	Prolonged prothrombin time, Gingival bleeding, Menorrhagia, Joint hemorrhage, Epistaxis, Intracra...	OMIM:227600
Spondyloperipheral Dysplasia	Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ...	OMIM:271700
Congenital Factor Vii Deficiency	Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin...	ORPHA:327
Muscular Dystrophy, Cardiac Type	Cardiomyopathy, Abnormal EKG	OMIM:309930
Holzgreve Syndrome	Abnormal metacarpal morphology, Abnormally ossified vertebrae, Abnormal rib morphology, Joint sti...	ORPHA:2167
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Split hand, Abnormal rib morphology, Micromelia, Micrognathia, Brachydactyly, ...	ORPHA:2145
Romano-Ward Syndrome	Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S...	ORPHA:101016
Acrofacial Dysostosis Syndrome Of Rodriguez	Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Single transverse palmar crease, Wide ...	OMIM:201170
Osteogenesis Imperfecta, Type Iii	Slender long bone, Wide anterior fontanel, Thin ribs, Tibial bowing, Multiple prenatal fractures,...	OMIM:259420
Brachydactyly Type A1	Hypoplasia of the ulna, Clinodactyly of the 5th finger, Distal symphalangism of hands, Short hall...	ORPHA:93388
Osteogenesis Imperfecta, Type Viii	Osteopenia, Barrel-shaped chest, Slender long bone, Femoral retroversion, Wide anterior fontanel,...	OMIM:610915
Terminal Osseous Dysplasia	Mesomelic arm shortening, Abnormal hand bone ossification, Abnormal bone structure, Camptodactyly...	OMIM:300244
Dysspondyloenchondromatosis	Abnormal fibula morphology, Abnormal ulnar metaphysis morphology, Genu valgum, Joint dislocation,...	ORPHA:85198
Brugada Syndrome 5	ST segment elevation, Ventricular fibrillation, Bundle branch block	OMIM:612838
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Miscarri...	ORPHA:96334
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Reduced bone mineral density, Genu valgum, Broad femoral head, Shallow acetabular fos...	OMIM:620639
Melnick-Needles Syndrome	Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica...	ORPHA:2484
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Talipes equinovarus, Brachydactyly, Short 5th finger, Aplasia/Hypoplasia of the fibula, Short foo...	ORPHA:52056
Mccune-Albright Syndrome	Abnormal femur morphology, Aneurysmal bone cyst, Polyostotic fibrous dysplasia, Monostotic fibrou...	ORPHA:562
Cardiomyopathy, Familial Hypertrophic, 8	Congestive heart failure, Reduced left ventricular ejection fraction, Palpitations, Restrictive c...	OMIM:608751
Ruvalcaba Syndrome	Limited elbow extension, Short metatarsal, Narrow chest, Short metacarpal, Micromelia, Short palm...	OMIM:180870
Short-Rib Thoracic Dysplasia 12	Short finger, Narrow chest, Short thorax, Short long bone, Short ribs, Intrauterine growth retard...	OMIM:269860
Diaphanospondylodysostosis	Absent in utero rib ossification, Large fontanelles, Hammertoe, Bell-shaped thorax, Tracheomalaci...	OMIM:608022
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Intrauterine growth retardation, Abnormal rib morphology, Micromelia, Decreased calvarial ossific...	ORPHA:2772
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing	OMIM:156232
Multiple Osteochondromas	Abnormal femur morphology, Limitation of knee mobility, Deformed forearm bones, Abnormal lower li...	ORPHA:321
Craniometadiaphyseal Dysplasia	Osteopenia, Genu valgum, Cubitus valgus, Flared metaphysis, Wide anterior fontanel, Wormian bones...	OMIM:269300
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, T...	OMIM:266920
Osteogenesis Imperfecta, Type Vii	Osteopenia, Rhizomelia, Crumpled long bones, Narrow chest, Femoral retroversion, Wide anterior fo...	OMIM:610682
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment	ORPHA:1055
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Pulmonary hemorrhage...	OMIM:603585
Summitt Syndrome	Short 4th metacarpal, Genu valgum, Clinodactyly of the 5th finger, Finger syndactyly, Prominent m...	ORPHA:3210
Potocki-Shaffer syndrome	Delayed cranial suture closure	DECIPHER:34
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ...	OMIM:612240
Short Qt Syndrome 7	Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death	OMIM:620231
Osteogenesis Imperfecta, Type X	Osteopenia, Genu valgum, Rhizomelia, Fibular bowing, Death in childhood, Narrow chest, Thin ribs,...	OMIM:613848
Mesomelic Dysplasia, Savarirayan Type	Abnormality of the hand, Fibular hypoplasia, Fibular aplasia, Anterior tibial bowing, Dislocated ...	OMIM:605274
Mesomelia-Synostoses Syndrome	Abnormality of the hand, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpa...	ORPHA:2496
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ...	OMIM:620663
Otospondylomegaepiphyseal Dysplasia	Flared femoral metaphysis, Fibular bowing, Abnormal long bone morphology, Sandal gap, Abnormal il...	ORPHA:1427
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Multiple joint dislocation, Sandal gap, Enlarged metaphyses, Dislocated radial head, Pectus carin...	OMIM:245600
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Popliteal pterygium, F...	ORPHA:3329
Laron Syndrome	Short long bone, Limb undergrowth, Abnormal joint morphology	OMIM:262500
Kenny-Caffey Syndrome, Type 1	Long clavicles, Thin clavicles, Calvarial osteosclerosis, Slender long bone, Thin ribs, Decreased...	OMIM:244460
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval	OMIM:615378
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Short long bone, Thoracic hypoplasia, Metaphyseal irregularity, Joint hypermobili...	OMIM:618019
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Clinodactyly of the 5th finger, 11 pairs of ribs, Sandal gap, Spina bifida occulta, P...	OMIM:617877
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Pulmonic stenosis, Abnormal EKG	OMIM:178650
Cranioectodermal Dysplasia 1	Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Narrow chest, Broad distal phalanges ...	OMIM:218330
Stuve-Wiedemann Syndrome 2	Stillbirth, Short long bone, Death in adolescence, Bowing of the long bones, Camptodactyly, Neona...	OMIM:619751
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul...	OMIM:609040
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri...	OMIM:608758
Bruck Syndrome	Pterygium, Bowing of the long bones, Osteoporosis, Joint stiffness, Wormian bones, Arthrogryposis...	ORPHA:2771
Basal Cell Nevus Syndrome 1	Polydactyly, Short 4th metacarpal, Palmar pits, Short distal phalanx of the thumb, Abnormal stern...	OMIM:109400
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Congenital bilateral hip dislocation, Congenital knee dislocation, Joint subluxation,...	OMIM:130060
Gollop-Wolfgang Complex	Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ...	ORPHA:1986
Congenital Factor X Deficiency	Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor...	ORPHA:328
Achondroplasia	Limited elbow extension, Narrow greater sciatic notch, Short proximal phalanx of finger, Rhizomel...	ORPHA:15
Grant Syndrome	Wormian bones, Micrognathia, Tibial bowing, Down-sloping shoulders	OMIM:138930
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Pectus carinatum, Pectus excavatum, Multiple prenatal fractures, Joint hy...	OMIM:301014
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Short first metatarsal, Ulnar bowing, Epiphyseal stippling, Wide anterior...	OMIM:619135
Short Qt Syndrome 2	Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde...	OMIM:609621
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Genu valgum, Cubitus valgus, Metaphyseal striations, Slender long bones with narrow d...	OMIM:608154
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car...	OMIM:300106
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto...	OMIM:609441
Congenital Disorder Of Glycosylation, Type Ig	Hypoplasia of the radius, Rhizomelia, Sandal gap, Short ribs, Short humerus, Short femur, Short t...	OMIM:607143
Achondrogenesis	Narrow chest, Short thorax, Abnormality of bone mineral density, Abnormal enchondral ossification...	ORPHA:932
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse...	ORPHA:1972
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ...	OMIM:613243
Autosomal Dominant Spondylocostal Dysostosis	Spina bifida occulta, Short thorax, Missing ribs, Abnormal rib morphology, Posterior rib fusion, ...	ORPHA:1797
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card...	OMIM:618447
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Abnormal rib morphology, Bro...	ORPHA:2519
Multicentric Osteolysis, Nodulosis, And Arthropathy	Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contracture, Broad metata...	OMIM:259600
Glycogen Storage Disease Xv	Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ...	OMIM:613507
Thoraco-Abdominal Enteric Duplication	Camptodactyly of finger, Missing ribs	ORPHA:1759
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Clinodactyly of the 5th finger, Missing ribs, Abnormal rib morphology, Arachnodactyly, Joint hype...	ORPHA:2759
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Tibial bowing, Bowing of the long bones, Abnormally ossified vertebra...	ORPHA:3035
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Gnathodiaphyseal Dysplasia	Osteopenia, Diaphyseal cortical sclerosis, Bowing of the long bones, Osteomyelitis, Increased sus...	OMIM:166260
Odontochondrodysplasia	Abnormal metaphysis morphology, Square pelvis bone, Narrow chest, Bowing of the long bones, Micro...	ORPHA:166272
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Short thorax, N...	OMIM:617102
Seckel Syndrome 1	Clinodactyly of the 5th finger, 11 pairs of ribs, Sandal gap, Cone-shaped epiphyses of the phalan...	OMIM:210600
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot...	OMIM:263520
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large iliac wing, Cupped...	OMIM:271640
Spondyloepimetaphyseal Dysplasia, Shohat Type	Fibular overgrowth, Generalized bone demineralization, Delayed epiphyseal ossification, Flared me...	ORPHA:93352
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia, Chondrocalcinosis	OMIM:600740
Thrombocytopenia-Absent Radius Syndrome	Fibular aplasia, Fused cervical vertebrae, Clinodactyly of the 5th finger, Tibial torsion, Finger...	ORPHA:3320
Holt-Oram Syndrome	Abnormal clavicle morphology, Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndact...	ORPHA:392
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short finger, Small epiphyses, Thin ribs, Thoracic kyphosis, Prominent sternum, Wormian bones, Fl...	OMIM:300232
Short Stature, Dauber-Argente Type	Osteopenia, Reduced bone mineral density, Decreased fibular diameter, Arachnodactyly, Long finger...	OMIM:619489
Schinzel-Giedion Midface Retraction Syndrome	Long clavicles, Short 1st metacarpal, Wide distal femoral metaphysis, Talipes equinovarus, Single...	OMIM:269150
ERI1-related disease	Osteopenia, Limited elbow extension, Clinodactyly of the 5th finger, Narrow chest, Dislocated rad...	OMIM:608739
Klippel-Trénaunay Syndrome	Prolonged bleeding time, Gastrointestinal hemorrhage, Microcytic anemia, Internal hemorrhage	ORPHA:90308
Osteogenesis Imperfecta, Type Xiii	Reduced bone mineral density, Limitation of knee mobility, Wide distal femoral metaphysis, Increa...	OMIM:614856
Hallermann-Streiff Syndrome	Reduced bone mineral density, Clinodactyly of the 5th finger, Abnormality of the fontanelles or c...	ORPHA:2108
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Micromelia, Short humerus, Abno...	ORPHA:2491
Cole-Carpenter Syndrome 2	Osteopenia, Lambdoidal craniosynostosis, Thin ribs, Narrow iliac wing, Pectus excavatum, Coronal ...	OMIM:616294
Weyers Ulnar Ray/Oligodactyly Syndrome	Hypoplasia of the radius, Proximal radial head dislocation, Proximal placement of thumb, Finger a...	OMIM:602418
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Abnormal femoral neck/head morphology, Crumpled long bones, Abnormal lower limb bone ...	ORPHA:2788
Ulbright-Hodes Syndrome	Hypoplasia of the radius, Fibular aplasia, Thin ribs, Short ribs, Severe intrauterine growth reta...	ORPHA:3404
3M Syndrome	Rocker bottom foot, Hypoplasia of the ulna, Abnormal metaphysis morphology, Clinodactyly of the 5...	ORPHA:2616
Arms, Malformation Of	Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis	OMIM:107900
Distal Deletion 17Q	Bilateral single transverse palmar creases, Abnormal thumb morphology, Abnormal hip bone morpholo...	ORPHA:1597
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Short greater sciatic notch, Pectus carinatum, Flat acetabular r...	ORPHA:93314
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Hyperextensibility of the finger joints, Micrognathia, Small anterior fontanelle, 11 pairs of ribs	OMIM:618356
Combined Deficiency Of Factor V And Factor Viii	Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Prolonged bleeding fo...	ORPHA:35909
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Bilateral single transverse palmar creases, Abnormal thumb morphology, Large fontanelles, Abnorma...	ORPHA:2511
Cree Mental Retardation Syndrome	Rocker bottom foot, Large fontanelles, Pectus excavatum, Cutaneous finger syndactyly, Aplasia/Hyp...	OMIM:606851
Campomelic Dysplasia	Fibular hypoplasia, 11 pairs of ribs, Poorly ossified cervical vertebrae, Tracheomalacia, Narrow ...	ORPHA:140
Greig Cephalopolysyndactyly Syndrome	1-3 toe syndactyly, Y-shaped metatarsals, Metopic synostosis, Delayed cranial suture closure, Pos...	OMIM:175700
Platyspondylic Dysplasia, Torrance Type	Abnormal carpal morphology, Narrow chest, Metaphyseal cupping, Short thorax, Bowing of the long b...	ORPHA:85166
Fanconi-Bickel Syndrome	Rickets, Osteomalacia	OMIM:227810
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Impaired platelet adhesion, Oral cavity bleeding, Menorrhagia, Joint...	ORPHA:324636
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteomalacia, Osteoporosis	ORPHA:309031
Acrofacial Dysostosis, Rodríguez Type	Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Sp...	ORPHA:1788
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Acromesomelic Dysplasia 1	Limited elbow extension, Hypoplasia of the radius, Broad finger, Thoracolumbar kyphosis, Short me...	OMIM:602875
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Carpal bone hypoplasia, Multiple joint dislocation, Dislocated radial hea...	OMIM:618395
Cleidocranial Dysplasia 2	Osteopenia, Genu valgum, Delayed pubic bone ossification, Wide anterior fontanel, Delayed ossific...	OMIM:620099
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Narrow chest, Femoral bowing, Micromelia, Dumbbell-shaped long bone, Micrognathia, Me...	ORPHA:440354
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Hypoplastic iliac wing, Tibial bowing, Short distal phalanx of finger, Intrauterine growth retard...	OMIM:210720
Long Qt Syndrome 3	Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop...	OMIM:603830
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	11 pairs of ribs, Elbow flexion contracture, Calcaneovalgus deformity, Camptodactyly, Congenital ...	OMIM:616266
Acromesomelic Dysplasia 4	Sandal gap, Short metacarpal, Mesomelia, Metaphyseal irregularity, Prominent deltoid tuberosities...	OMIM:619636
Cleidocranial Dysplasia	Decreased skull ossification, Abnormal epiphysis morphology, Abnormal metacarpal morphology, Oste...	ORPHA:1452
Oculocerebrorenal Syndrome Of Lowe	Abnormal metaphysis morphology, Genu valgum, Arthritis, Osteomalacia, Abnormal epiphysis morpholo...	ORPHA:534
Distal Limb Deficiencies-Micrognathia Syndrome	Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o...	ORPHA:1307
Cole-Carpenter Syndrome	Abnormal metaphysis morphology, Crumpled long bones, Wormian bones, Bowing of the long bones, Abn...	ORPHA:2050
Cardiomyopathy, Familial Restrictive, 3	Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiomyopathy, Hypo...	OMIM:612422
Lethal Osteosclerotic Bone Dysplasia	Large fontanelles, Delayed cranial suture closure, Mandibular aplasia, Micrognathia, Intrauterine...	ORPHA:1832
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Abnormal pelvic girdle bone morphology, Micromelia, Camptodactyly of finger, Brachydactyly, Ulnar...	ORPHA:2928
Hypertrichosis Cubiti	Joint hypermobility, Abnormality of the elbow, Rhizomelia, Micromelia	ORPHA:2220
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Hypoplasia of the ulna, Abnormality of the wrist, Radial club hand, Ulnar bowing, Aplasia/Hypopla...	ORPHA:2878
Postaxial Oligodactyly, Tetramelic	Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Single transverse palmar crease, Absent ...	OMIM:176240
Hermansky-Pudlak Syndrome 11	Gingival bleeding, Impaired collagen-induced platelet aggregation, Menorrhagia, Epistaxis, Bruisi...	OMIM:619172
Atelosteogenesis Type I	Absent or minimally ossified vertebral bodies, Abnormal fibula morphology, Rhizomelia, Narrow che...	ORPHA:1190
Wiskott-Aldrich Syndrome	Hematemesis, Spontaneous hematomas, Abnormal platelet function, Abnormal platelet morphology, Epi...	ORPHA:906
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Large fontanelles, Long clavicles, Osteolytic defects of the phalanges of the hand, A...	OMIM:259100
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Short ribs, Missing ribs, Block vertebrae, Rib fusion, Vertebral fusion	OMIM:271520
Dentinogenesis Imperfecta	Prolonged bleeding time, Bruising susceptibility	ORPHA:49042
Acrofacial Dysostosis 1, Nager Type	Limited elbow extension, Hypoplasia of the radius, Radial deviation of finger, Triphalangeal thum...	OMIM:154400
Menkes Disease	Death in childhood, Wormian bones, Metaphyseal spurs, Osteoporosis, Metaphyseal widening, Joint h...	OMIM:309400
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Short finger, Rhizomelia, Irregular epiphyses, Barrel-shaped chest, Broad thumb, Mesomelia, Metap...	OMIM:612813
Focal Dermal Hypoplasia	Finger syndactyly, Short clavicles, Short ribs, Split hand, Hypoplastic pelvis, Split foot, Campt...	ORPHA:2092
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Yunis-Varon Syndrome	Rocker bottom foot, Absent sternal ossification, Abnormal finger morphology, Short ribs, Decrease...	ORPHA:3472
Hoxha-Aliu Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Pec...	OMIM:620662
Shprintzen-Goldberg Syndrome	Osteopenia, Abnormal metaphysis morphology, Genu valgum, Narrow chest, Pectus carinatum, Bowing o...	ORPHA:2462
Noonan Syndrome 12	Proximal placement of thumb, 11 pairs of ribs, Pectus excavatum	OMIM:618624
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Finger syndacty...	ORPHA:3258
Verloove Vanhorick-Brubakk Syndrome	Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ...	ORPHA:3429
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Clinodactyly of the 5th finger, 11 pairs of ribs, Clinodactyly of the 2nd finger, Broad thumb, Sh...	OMIM:620073
Ollier Disease	Joint stiffness, Abnormal metaphysis morphology, Osteolysis, Micromelia	ORPHA:296
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Narrow chest, Thin ribs, Elbow flexion contract...	OMIM:200980
Cardiomyopathy, Familial Hypertrophic, 26	Congestive heart failure, Left anterior fascicular block, Left bundle branch block, Atrial fibril...	OMIM:617047
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal shoulder morphology, Narrow chest, Short metacarpal, Abnormal pelvic girdle bone morphol...	ORPHA:1422
Ruvalcaba Syndrome	Clinodactyly of the 5th finger, Proximal placement of thumb, Narrow chest, Abnormal vertebral epi...	ORPHA:3121
Brugada Syndrome 4	Syncope, Shortened QT interval, Atrial fibrillation	OMIM:611876
Distal Renal Tubular Acidosis	Rickets, Osteomalacia, Reduced bone mineral density, Increased susceptibility to fractures	ORPHA:18
Hermansky-Pudlak Syndrome 1	Gingival bleeding, Ecchymosis, Epistaxis, Hematochezia, Bruising susceptibility, Prolonged bleedi...	OMIM:203300
Braddock Syndrome	Pectus excavatum, Missing ribs, Micrognathia, Preaxial hand polydactyly, Intrauterine growth reta...	ORPHA:52047
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red...	ORPHA:66529
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Familial Osteodysplasia, Anderson Type	Aplasia/hypoplasia of the femur, Abnormal cortical bone morphology, Clinodactyly of the 5th finge...	ORPHA:2769
Cranioectodermal Dysplasia 2	Polydactyly, Rhizomelia, Narrow chest, Metopic synostosis, Short ribs, Postaxial hand polydactyly...	OMIM:613610
Otopalatodigital Syndrome, Type I	Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Pectus excava...	OMIM:311300
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Rhizomelia, 11 pairs of ribs, Narrow chest	OMIM:617661
Spondylocostal Dysostosis 4, Autosomal Recessive	Bell-shaped thorax, Spina bifida occulta, Short thorax, Pectus excavatum, Missing ribs, Block ver...	OMIM:613686
Florid Cemento-Osseous Dysplasia	Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Mandi...	ORPHA:83451
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Abnormal bone ossification, Large fontanelles, Generalized bone demineralization, Abnormal diaphy...	ORPHA:73230
Lowe Oculocerebrorenal Syndrome	Rickets, Wrist swelling, Genu valgum, Pathologic fracture, Osteomalacia, Finger swelling, Camptod...	OMIM:309000
Robinow Syndrome, Autosomal Recessive 1	Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head,...	OMIM:268310
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Bicoronal synostosis, Tracheobronchomalacia, Short long bone, Joint stiffness, ...	OMIM:619184
Pycnodysostosis	Hypoplastic iliac wing, Persistent open anterior fontanelle, Acromelia, Mesomelia, Intrauterine g...	ORPHA:763
Hermansky-Pudlak Syndrome 6	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Impaired collagen-indu...	OMIM:614075
Acheiropody	Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to...	OMIM:200500
Tyrosinemia Type 1	Rickets of the lower limbs	ORPHA:882
Thanatophoric Dysplasia	Abnormal metaphysis morphology, Abnormal ilium morphology, Narrow chest, Short thorax, Abnormal s...	ORPHA:2655
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Barrel-shaped chest, Broad thumb, Mesomelia, Brachydactyly, Joint hypermobility	ORPHA:171866
Caudal Regression Syndrome	Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, Abnormal pelvic girdle bone mor...	ORPHA:3027
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Carpal osteolysis, Pterygium, Osteolysis involving bones of the lower limbs, Osteolys...	ORPHA:371428
Antley-Bixler Syndrome	Narrow chest, Delayed cranial suture closure, Femoral bowing, Abnormal rib morphology, Joint stif...	ORPHA:83
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Micromelia	OMIM:273680
Wiskott-Aldrich Syndrome	Hematemesis, Impaired lymphocyte transformation with phytohemagglutinin, Epistaxis, Lymphopenia, ...	OMIM:301000
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Atrial arrhythmia, First degree atrioventricular block, Atrioventricular block, Absent P wave, Pa...	OMIM:310300
Campomelia, Cumming Type	Bowing of the long bones, Abnormally ossified vertebrae, Abnormal rib morphology, Micromelia, Dea...	ORPHA:1318
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Congenital bilateral hip dislocation, Tibial bowing, Micrognathia, Limb under...	ORPHA:453510
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Sple...	OMIM:608233
Congenital Varicella Syndrome	Intrauterine growth retardation, Micromelia	ORPHA:291
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Hypercholanemia, Familial 1	Rickets	OMIM:607748
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Rickets, Death in childhood, Death in adolescence, Osteoporosis	OMIM:560000
Cole-Carpenter Syndrome 1	Osteopenia, Reduced bone mineral density, Coronal craniosynostosis, Micrognathia, Orbital cranios...	OMIM:112240
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Prolonged prothrombin time, Abnormal bleeding, Epistaxis	OMIM:610842
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Campomelic Dysplasia	Absent sternal ossification, Dislocated radial head, Tracheobronchomalacia, Hypoplastic iliac win...	OMIM:114290
1p36 microdeletion syndrome	Delayed cranial suture closure	DECIPHER:18
Thalidomide Embryopathy	Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han...	ORPHA:3312
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Osteopetrosis, Death in childhood, Death in infancy, Abnormal trabecular bone mor...	OMIM:612301
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the pelvis, Missing ribs, Abnormally ossified vertebrae, Abnormal ri...	ORPHA:3301
Dyschondrosteosis-Nephritis Syndrome	Madelung deformity, Ulnar bowing, Micromelia, Aplasia/Hypoplasia of the radius, Radial bowing, In...	ORPHA:1765
Orofaciodigital Syndrome Type 10	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin...	ORPHA:2756
Schwartz-Jampel Syndrome, Type 1	Abnormal femoral epiphysis morphology, Flexion contracture of toe, Talipes equinovarus, Shoulder ...	OMIM:255800
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Clinodactyly of the 5th finger, Ulnar bowing, Proximal radio-ulnar synostosis, Limited pronation/...	OMIM:605432
Pycnodysostosis	Increased bone mineral density, Absent frontal sinuses, Narrow iliac wing, Osteolytic defects of ...	OMIM:265800
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Metopic depression, Bell-shaped thorax, Short clavicles, Steep acetabular roof, Hypop...	ORPHA:313855
Attrv122I Amyloidosis	Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection...	ORPHA:85451
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a...	OMIM:108950
Craniosynostosis 2	Triphalangeal thumb, Unicoronal synostosis, Bicoronal synostosis, Metopic synostosis, Brachydacty...	OMIM:604757
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Becker Nevus Syndrome	Abnormal tibia morphology, Spina bifida occulta, Pectus carinatum, Pectus excavatum, Micromelia, ...	ORPHA:64755
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Limited elbow extension, Genu valgum, Monkey wrench femoral neck, Clinodactyly of the 2nd finger,...	OMIM:618870
Pelviscapular Dysplasia	Abnormality of the joint spaces of the elbow, Elbow flexion contracture, Hypoplastic ilia, Congen...	ORPHA:93333
Sitosterolemia 1	Abnormal bleeding, Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregati...	OMIM:210250
Beta-Mercaptolactate Cysteine Disulfiduria	Genu valgum, Sandal gap, Micromelia, Arachnodactyly, Joint hypermobility	ORPHA:1035
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal morphology of ulna, Abnormal metacarpal morphology	ORPHA:2233
Dysostosis, Stanescu Type	Abnormal metaphysis morphology, Increased bone mineral density, Wormian bones, Bowing of the long...	ORPHA:1798
Osteopathia Striata-Cranial Sclerosis Syndrome	Abnormal metaphysis morphology, Osteopetrosis, Large fontanelles, Spina bifida occulta, Asymmetry...	ORPHA:2780
Prader-Willi Syndrome Due To Imprinting Mutation	Small hand, Abnormal ulnar metaphysis morphology, Short foot, Narrow palm	ORPHA:177910
Image Syndrome	Intrauterine growth retardation, Metaphyseal dysplasia, Micromelia	ORPHA:85173
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Rocker bottom foot, Lambdoidal craniosynostosis, Ulnar bowing, Narrow chest, Wide anterior fontan...	OMIM:207410
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Preaxial polydactyly, Narrow chest, Short ribs, Micromelia, Postaxial polydactyly, Aplastic clavicle	OMIM:616546
Osteoglophonic Dysplasia	Short metacarpal, Broad metatarsal, Pectus excavatum, Broad thumb, Craniosynostosis, Rhizomelia, ...	OMIM:166250
Holt-Oram Syndrome	Aplasia of the pectoralis major muscle, Cervical C2/C3 vertebral fusion, Proximal placement of th...	OMIM:142900
Idiopathic Congenital Hypothyroidism	Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Delayed cranial ...	ORPHA:95717
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Recurrent mandibular subluxations, Wide anterior fontanel, Short phalanx of finger, M...	OMIM:225410
Familial Hypocalciuric Hypercalcemia	Osteomalacia, Chondrocalcinosis	ORPHA:405
Wilson Disease	Osteomalacia, Osteoporosis, Osteoarthritis, Joint hypermobility, Chondrocalcinosis	OMIM:277900
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Single transverse palmar cr...	OMIM:227270
C Syndrome	Radial deviation of finger, Dislocated radial head, Postaxial hand polydactyly, Short metacarpal,...	OMIM:211750
Cardioacrofacial Dysplasia 2	Genu valgum, Clinodactyly of the 5th finger, Narrow chest, Clubbing, Postaxial hand polydactyly, ...	OMIM:619143
Thanatophoric Dysplasia Type 1	Abnormal metaphysis morphology, Narrow chest, Short greater sciatic notch, Wide anterior fontanel...	ORPHA:1860
Oculocerebrocutaneous Syndrome	Finger syndactyly, Missing ribs, Abnormal rib morphology, Congenital hip dislocation, Aplasia/Hyp...	ORPHA:1647
Hypophosphatemic Rickets And Hyperparathyroidism	Rickets, Rachitic rosary, Hypophosphatemic rickets	OMIM:612089
Martsolf Syndrome 1	Talipes valgus, Slender ulna, Talipes equinovarus, Tracheomalacia, Pectus carinatum, Short metaca...	OMIM:212720
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Ritscher-Schinzel Syndrome 1	Intrauterine growth retardation, Micrognathia, Syndactyly, Missing ribs	OMIM:220210
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Aplasia of the epiglottis, Narrow chest, Short clavicles, Short long bone, Short ribs, Postaxial ...	OMIM:617088
Hemophilia B	Prolonged prothrombin time, Hematemesis, Gastrointestinal hemorrhage, Melena, Petechiae, Joint he...	OMIM:306900
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Abnormal bleeding, Decreased circulating antibody...	OMIM:604928
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Death in infancy, ...	OMIM:210710
Tropical Endomyocardial Fibrosis	P pulmonale, Abnormal ST segment, Splenomegaly, Prolonged QRS complex, Pulmonary venous hypertens...	ORPHA:75565
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Pectus excavatum, Broad thumb, Short 5th finger, Overlapping toe, Hip dislocation, Abnormality of...	ORPHA:508498
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Purpura, Leukopenia, Splenomegaly, Prolonged bleeding time, Hemolyti...	ORPHA:809
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Coronary Arterial Fistula	Congestive heart failure, Tachycardia, Angina pectoris, Elevated jugular venous pressure, Pulmona...	ORPHA:2041
Rothmund-Thomson Syndrome Type 2	Finger symphalangism, Osteopenia, Abnormal ulnar metaphysis morphology, Aplasia/hypoplasia involv...	ORPHA:221016
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Delayed cranial suture closure, Wormian bones, Joint hypermobility, Adducted thumb, I...	OMIM:616603
2Q31.1 Microdeletion Syndrome	Abnormal fibula morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Sandal gap...	ORPHA:251014
Acheiropodia	Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,...	ORPHA:931
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ...	OMIM:119100
Arthrogryposis Multiplex Congenita 6	Large fontanelles, Death in childhood, Death in infancy, Neonatal death, Adducted thumb, Arthrogr...	OMIM:619334
Short Stature-Wormian Bones-Dextrocardia Syndrome	Wormian bones, Camptodactyly of finger, Micrognathia, Brachydactyly	ORPHA:2863
Cousin Syndrome	Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, Me...	OMIM:260660
Mucopolysaccharidosis Type 4	Abnormal metaphysis morphology, Reduced bone mineral density, Genu valgum, Joint dislocation, Sho...	ORPHA:582
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Reduced bone mineral density, Genu valgum, Barrel-shaped chest, Small epi...	ORPHA:94068
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Long thorax, Genu valgum, Limb undergrowth	OMIM:619142
Femoral-Facial Syndrome	Limited elbow movement, Aplasia/hypoplasia of the femur, Short humerus, Syndactyly, Absent verteb...	OMIM:134780
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Large fontanelles, Wormian bones, Bowing of the long bones, Pectus excavatum, Congeni...	OMIM:612940
Osteogenesis Imperfecta, Type Xi	Osteopenia, Wormian bones, Coxa vara, Protrusio acetabuli, Joint hypermobility, Recurrent fractur...	OMIM:610968
Cartilage-Hair Hypoplasia	Abnormal bone ossification, Abnormal hip bone morphology, Pectus carinatum, Tibial bowing, Abnorm...	ORPHA:175
Spondyloepimetaphyseal Dysplasia, Krakow Type	Metaphyseal irregularity, Delayed pubic bone ossification, Rhizomelia, Irregular epiphyses, Clino...	OMIM:618162
Primary Fanconi Renotubular Syndrome	Osteomalacia, Hypophosphatemic rickets, Increased susceptibility to fractures	ORPHA:3337
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Impaired platelet aggregation, Iron deficiency anemia	OMIM:618372
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Short middle phalanx of finger, Fused cervical vertebrae, Prominent metopic ridge	OMIM:309620
Rothmund-Thomson Syndrome	Osteopenia, Hypoplasia of the ulna, Reduced bone mineral density, Metaphyseal striations, Aplasia...	ORPHA:2909
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Thin ribs, Osteolytic defects of the distal phalanges of the hand, Osteop...	OMIM:614008
Wiedemann-Steiner Syndrome	Abnormality of the hand, Rhizomelia, Clinodactyly of the 5th finger, Hyperextensibility at elbow,...	ORPHA:319182
Arthrogryposis Multiplex Congenita 5	Rocker bottom foot, Limitation of knee mobility, 11 pairs of ribs, Hammertoe, Elbow flexion contr...	OMIM:618947
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Abnormal metaphysis morphology, Absent or minimally ossified vertebral bodies, Narrow chest, Abno...	ORPHA:93271
Craniosynostosis 6	Spina bifida occulta, Bicoronal synostosis, Right unilambdoid synostosis, Delayed cranial suture ...	OMIM:616602
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Palpitations, ST segment elevation, Right bundle branch block, Cardiomyopathy, Ventricular fibril...	ORPHA:263297
Moebius Syndrome	Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the...	ORPHA:570
Focal Dermal Hypoplasia	Midclavicular aplasia, Short ribs, Short metacarpal, Split foot, Joint hypermobility, Midclavicul...	OMIM:305600
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity...	ORPHA:93322
Potocki-Shaffer Syndrome	Wormian bones, Single transverse palmar crease, 2-5 finger cutaneous syndactyly, Brachydactyly	OMIM:601224
Chromosome 16Q22 Deletion Syndrome	Narrow chest, Wide anterior fontanel, Single transverse palmar crease, Prominent metopic ridge, M...	OMIM:614541
3C Syndrome	Abnormality of the fontanelles or cranial sutures, Abnormal hip bone morphology, Finger syndactyl...	ORPHA:7
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Prolonged prothrombin time, Abnormal bleeding, Joint hemorrhage, Epistaxis, Cerebral hemorrhage, ...	OMIM:277450
Chédiak-Higashi Syndrome	Abnormal bleeding, Anemia, Increased proportion of CD25+ mast cells, Hemophagocytosis, Pancytopen...	ORPHA:167
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets	OMIM:211600
Kagami-Ogata Syndrome	Long clavicles, Bell-shaped thorax, Thin ribs, Long fingers, Micrognathia, Limb undergrowth, Flex...	OMIM:608149
Al-Gazali Syndrome	Osteopenia, Broad distal phalanx of finger, Bowed humerus, Proximal radio-ulnar synostosis, Wrist...	OMIM:609465
Phocomelia, Schinzel Type	Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna, Abnormal tibia morphology, Aplasi...	ORPHA:2879
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Short clavicles, Delayed cranial suture closure, Osteolytic defects of ...	OMIM:608612
Van Maldergem Syndrome 1	Osteopenia, Short 4th metacarpal, Narrow chest, Tracheomalacia, Wide anterior fontanel, Short cla...	OMIM:601390
Rothmund-Thomson Syndrome Type 1	Finger symphalangism, Osteopenia, Abnormal ulnar metaphysis morphology, Patellar hypoplasia, Meta...	ORPHA:221008
Cutis Laxa, Autosomal Recessive, Type Iiia	Large fontanelles, Wormian bones, Pectus excavatum, Congenital hip dislocation, Wide cranial sutu...	OMIM:219150
Ivic Syndrome	Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Preaxial polydactyly, H...	OMIM:147750
4Q21 Microdeletion Syndrome	Large fontanelles, Micromelia, Short palm, Intrauterine growth retardation, Toe syndactyly, Short...	ORPHA:238750
Osteogenesis Imperfecta, Type Iv	Reduced bone mineral density, Femoral bowing present at birth, straightening with time, Wormian b...	OMIM:166220
Premature Aging Syndrome, Penttinen Type	Slender long bone, Palmoplantar hyperkeratosis, Thin ribs, Osteolytic defects of the distal phala...	OMIM:601812
Microlissencephaly-Micromelia Syndrome	Bilateral single transverse palmar creases, Adducted thumb, 11 pairs of ribs, Micromelia	ORPHA:50810
Cardiogenic Shock	Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure...	ORPHA:97292
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Distal shortening of limbs, Spina bifida occulta, Abnormal rib morphology, Broad femo...	ORPHA:488434
Difference Of Sex Development-Intellectual Disability Syndrome	Short thorax, Reduced bone mineral density, Genu valgum, Spina bifida occulta	ORPHA:2983
Thanatophoric Dysplasia Type 2	Abnormal metaphysis morphology, Narrow chest, Short thorax, Limitation of joint mobility, Microme...	ORPHA:93274
Tbck-Related Intellectual Disability Syndrome	Broad finger, 11 pairs of ribs, Broad toe, 2-3 toe syndactyly, Pectus excavatum, Osteoporosis, Pr...	ORPHA:488632
Cerebrocostomandibular Syndrome	Anomalous rib insertion to vertebrae, 10 pairs of ribs, 11 pairs of ribs, Clinodactyly of the 5th...	OMIM:117650
Peripartum Cardiomyopathy	Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Left bundle branch ...	ORPHA:563
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Bilateral single transverse palmar creases, Multiple carpal ossification centers, Generalized bon...	OMIM:143095
Congenital Fibrinogen Deficiency	Prolonged prothrombin time, Abnormal bleeding, Gingival bleeding, Internal hemorrhage, Splenic ru...	ORPHA:335
Marbach-Rustad Progeroid Syndrome	Femur fracture, Reduced bone mineral density, Short clavicles, Micrognathia, Wormian bones, Intra...	OMIM:619322
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Limited elbow extension, Genu valgum, Rhizomelia, Flat capital femoral epiphysis, Sma...	OMIM:271510
Atrial Septal Defect, Ostium Primum Type	Congestive heart failure, Atrial flutter, Right-to-left shunt, Third heart sound, Atrial fibrilla...	ORPHA:99106
Macs Syndrome	Prolonged bleeding time, Bruising susceptibility	OMIM:613075
Phosphoribosylaminoimidazole Carboxylase Deficiency	Talipes equinovarus, Neonatal death, Clinodactyly of the 5th finger, Missing ribs	OMIM:619859
Mandibuloacral Dysplasia With Type A Lipodystrophy	Large fontanelles, Wormian bones, Osteolytic defects of the distal phalanges of the hand, Limitat...	ORPHA:90153
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Missing ribs, Abnormal rib morphology, Micrognathia, Abno...	ORPHA:1834
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Death in infancy, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hy...	OMIM:274000
Osteogenesis Imperfecta, Type I	Osteopenia, Wormian bones, Femoral bowing, Hip dysplasia, Joint hypermobility, Finger joint hyper...	OMIM:166200
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets	OMIM:611590
Mesomelia-Synostoses Syndrome	Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral bowing, Parti...	OMIM:600383
Seckel Syndrome 5	Micrognathia, Short middle phalanx of finger, Clinodactyly of the 5th finger, 11 pairs of ribs	OMIM:613823
Camurati-Engelmann Disease	Abnormal femur morphology, Abnormal tibia morphology, Abnormal diaphysis morphology, Genu valgum,...	ORPHA:1328
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Slender long ...	OMIM:210730
Immunodeficiency 82 With Systemic Inflammation	Osteomalacia, Arthritis, Joint swelling, Osteomyelitis	OMIM:619381
Generalized Arterial Calcification Of Infancy	Stippled calcification of the elbow, Hypophosphatemic rickets, Fused cervical vertebrae, Abnormal...	ORPHA:51608
Hall-Riggs Syndrome	Abnormal metaphysis morphology, Joint stiffness, Limb undergrowth, Brachydactyly, Abnormal epiphy...	ORPHA:2107
Frank-Ter Haar Syndrome	Osteopenia, Broad clavicles, Flared metaphysis, Wide anterior fontanel, Wormian bones, Short long...	OMIM:249420
Hermansky-Pudlak Syndrome 8	Excessive bleeding from superficial cuts, Impaired platelet aggregation, Gingival bleeding, Menor...	OMIM:614077
Paget Disease Of Bone 2, Early-Onset	Osteosclerosis of the ulna, Fractures of the long bones, Femoral bowing, Bowing of the long bones...	OMIM:602080
Robin Sequence With Cleft Mandible And Limb Anomalies	Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me...	OMIM:268305
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Short clavicles, Delayed cranial suture closure, Elbow flexion contracture, Osteolyti...	OMIM:248370
Melnick-Needles Syndrome	Limited elbow extension, Stillbirth, Genu valgum, Osteolytic defects of the phalanges of the hand...	OMIM:309350
Acquired Purpura Fulminans	Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thrombocytopenia, Intracranial ...	ORPHA:49566
Silver-Russell Syndrome 1	Clinodactyly of the 5th finger, Delayed cranial suture closure, Short middle phalanx of the 5th f...	OMIM:180860
Orofaciodigital Syndrome Vi	Fibular aplasia, Radial deviation of finger, 11 pairs of ribs, Tibial bowing, Postaxial hand poly...	OMIM:277170
Thoracic Dysplasia-Hydrocephalus Syndrome	Abnormal metaphysis morphology, Limb undergrowth, Narrow chest	ORPHA:1861
Loeffler Endocarditis	Congestive heart failure, Aortic regurgitation, Palpitations, Restrictive cardiomyopathy, Right b...	ORPHA:75566
Lenz-Majewski Hyperostotic Dwarfism	Diaphyseal undertubulation, Large fontanelles, Spina bifida occulta, Flared metaphysis, Hyperexte...	OMIM:151050
Van Maldergem Syndrome 2	Osteopenia, Short 4th metacarpal, Hip subluxation, Narrow chest, Tracheomalacia, Wide anterior fo...	OMIM:615546
Stüve-Wiedemann Syndrome	Osteopenia, Abnormal metaphysis morphology, Genu valgum, Abnormal cortical bone morphology, Elbow...	ORPHA:3206
Dyssegmental Dysplasia, Silverman-Handmaker Type	Pterygium, Short long bone, Bowing of the long bones, Micromelia, Micrognathia, Neonatal death, T...	OMIM:224410
Complete Atrioventricular Septal Defect	Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular...	ORPHA:1329
Acquired Von Willebrand Syndrome	Prolonged prothrombin time, Normocytic anemia, Gastrointestinal hemorrhage, Melena, Subcutaneous ...	ORPHA:99147
Glutamine Deficiency, Congenital	Neonatal death, Flexion contracture, Camptodactyly, Micromelia	OMIM:610015
Apert Syndrome	Limited elbow movement, Pectus carinatum, Broad thumb, Syndactyly, Craniosynostosis, Postaxial ha...	OMIM:101200
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG	ORPHA:1177
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Joint contracture, Limb undergrowth, Intrauterine growth retardation, Hip dislocation	OMIM:618005
Nail-Patella Syndrome	Reduced bone mineral density, Abnormal femur morphology, Dislocated radial head, Pectus excavatum...	ORPHA:2614
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, Cran...	ORPHA:508533
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Short greater sciatic notch, Pectus carinatum, Short ribs, Pectus e...	OMIM:312870
Wild Type Attr Amyloidosis	Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v...	ORPHA:330001
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Atrial Standstill 2	Bradycardia, Cardiomyopathy, Atrial arrhythmia, Absent P wave, Palpitations, Atrial cardiomyopath...	OMIM:615745
Andersen-Tawil Syndrome	Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,...	ORPHA:37553
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Thin bony cortex, Hypoplastic vertebral bodies, Limb undergrowth, Thoracolumbar ...	OMIM:230600
Fanconi-Bickel Syndrome	Rickets, Bowing of the long bones, Osteopenia	ORPHA:2088
Lowry-Maclean Syndrome	Osteopenia, Widely patent coronal suture, Single transverse palmar crease, Osteoporosis, Small an...	ORPHA:2409
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press...	OMIM:255160
Atrial Septal Defect, Ostium Secundum Type	Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary...	ORPHA:99103
Ulnar-Mammary Syndrome	Abnormal clavicle morphology, Aplasia of the pectoralis major muscle, Abnormality of the wrist, A...	ORPHA:3138
Pyruvate Dehydrogenase E1-Alpha Deficiency	Intrauterine growth retardation, Single transverse palmar crease, Limb undergrowth, Flexion contr...	ORPHA:79243
Orofaciodigital Syndrome Ii	Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Flared metaphysis, Wormian bones...	OMIM:252100
Spinocerebellar Ataxia-Dysmorphism Syndrome	Reduced bone mineral density, Cubitus valgus, Spina bifida occulta, Slender long bone, Genu recur...	ORPHA:1185
Steinfeld Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Missing ribs, ...	OMIM:184705
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Femoral bowing, Tibial bowing, Camptodactyly...	OMIM:231070
Raine Syndrome	Large fontanelles, Subperiosteal bone formation, Increased bone mineral density, Bowing of the lo...	OMIM:259775
Sponastrime Dysplasia	Short long bone, Mesomelia, Metaphyseal irregularity, Joint hypermobility, Flattened humeral epip...	ORPHA:93357
Roberts Syndrome	Bilateral single transverse palmar creases, Radial deviation of finger, Mesomelic arm shortening,...	ORPHA:3103
Naxos Disease	Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P...	OMIM:601214
Acrofrontofacionasal Dysostosis	Micromelia, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger, Brachydactyly, ...	ORPHA:1784
Osteogenesis Imperfecta	Reduced bone mineral density, Abnormal femur morphology, Abnormal hip bone morphology, Dislocated...	ORPHA:666
Coffin-Siris Syndrome 6	Pectus excavatum, Micrognathia, Brachydactyly, Wormian bones, Clinodactyly	OMIM:617808
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Joint subluxation, Hyperextensibility of the finger joints, Wormian bones, Joint hypermobility, H...	OMIM:617821
Marshall Syndrome	Small distal femoral epiphysis, Small proximal tibial epiphyses, Clinodactyly of the 5th finger, ...	OMIM:154780
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal bone ossification, Reduced bone mineral density, Genu valgum, Corner fracture of metaphy...	ORPHA:93315
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypertension, Glucocortocoid-insensitive primary hyperaldosteronism, Epistaxis, Intracranial hemo...	ORPHA:231625
Nivelon-Nivelon-Mabille Syndrome	Bell-shaped thorax, Distal clavicular thinning, Narrow chest, Short metacarpal, Micromelia, Short...	OMIM:600092
Autosomal Recessive Cutis Laxa Type 2A	Wide anterior fontanel, Delayed cranial suture closure, Congenital hip dislocation, Persistent op...	ORPHA:357058
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Schwartz-Jampel Syndrome	Flexion contracture of toe, Pectus carinatum, Wrist flexion contracture, Abnormally ossified vert...	ORPHA:800
Lenz-Majewski Hyperostotic Dwarfism	Abnormal metaphysis morphology, Cranial hyperostosis, Osteopetrosis, Large fontanelles, Abnormal ...	ORPHA:2658
Robinow Syndrome, Autosomal Recessive 2	Sandal gap, Prominent fingertip pads, Camptodactyly, Broad thumb, Micrognathia, Mesomelia, Broad ...	OMIM:618529
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Osteogenesis Imperfecta, Type Xvii	Reduced bone mineral density, Thin metacarpal cortices, Bowed humerus, Osteoporosis, Thin long bo...	OMIM:616507
Robinow Syndrome	Mesomelic arm shortening, Missing ribs, Rib fusion, Micrognathia, Mesomelia, Bifid distal phalanx...	ORPHA:97360
Baller-Gerold Syndrome	Limited elbow movement, Carpal bone aplasia, Oligodactyly, Severe intrauterine growth retardation...	OMIM:218600
Relapsing Fever	Prolonged prothrombin time, Abnormal bleeding, Anemia, Leukocytosis, Neutrophilia, Thrombocytopen...	ORPHA:91547
Marshall-Smith Syndrome	Reduced bone mineral density, Slender long bone, Bowing of the long bones, Joint hypermobility, C...	ORPHA:561
6Q Terminal Deletion Syndrome	Prominent metopic ridge, Aplasia/Hypoplasia of the ribs, Micrognathia, Joint hypermobility, Hallu...	ORPHA:75857
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Short middle phal...	ORPHA:319675
Cystinosis	Rickets	ORPHA:213
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Missing ribs, ...	ORPHA:3186
Bile Acid Synthesis Defect, Congenital, 1	Rickets	OMIM:607765
Aicardi Syndrome	Bifid ribs, Missing ribs, Supernumerary ribs, Block vertebrae, Rib fusion, Hip dysplasia, Small hand	ORPHA:50
Congenital Aortic Valve Stenosis	Reduced left ventricular ejection fraction, Angina pectoris, Abnormal pulse pressure, Aortic valv...	ORPHA:3093
Kinsship Syndrome	Osteopenia, Polydactyly, Fibular hypoplasia, Dislocated radial head, Single transverse palmar cre...	OMIM:619297
Dpm1-Cdg	Sandal gap, Camptodactyly, Long hallux, Micrognathia, Limb undergrowth, Knee flexion contracture	ORPHA:79322
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal clavicle morphology, Tarsal synostosis, Short thorax, Wide anterior fontanel, Delayed cr...	ORPHA:85199
Diamond-Blackfan Anemia 1	Hypoplasia of the radius, Triphalangeal thumb, 11 pairs of ribs, Spina bifida occulta, Hypoplasti...	OMIM:105650
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, Generalized lymphaden...	OMIM:602450
Robinow Syndrome, Autosomal Dominant 2	Partial duplication of the phalanx of hand, Calvarial osteosclerosis, Camptodactyly, Broad thumb,...	OMIM:616331
Infantile Liver Failure Syndrome 2	Prolonged prothrombin time	OMIM:616483
Acquired Aneurysmal Subarachnoid Hemorrhage	Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi...	ORPHA:90065
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Genu valgum, Osteolytic defects of the phalanges of the hand, Deep palmar crease, San...	OMIM:619127
Radio-Renal Syndrome	Hypoplasia of the radius, Abnormal rib morphology, Micromelia, Short palm, Micrognathia, Brachyda...	ORPHA:3015
Curry-Jones Syndrome	Unicoronal synostosis, Bicoronal synostosis, Triphalangeal hallux, Wormian bones, Broad thumb, Du...	OMIM:601707
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Axillary pterygium, Ulnar bowing, Pterygium, Hypoplastic iliac wing, Oligoda...	OMIM:263650
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Arachnodactyly, Micrognathia, Delayed cranial suture closure	ORPHA:1129
Familial Thyroid Dyshormonogenesis	Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Delayed cranial ...	ORPHA:95716
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Delayed cranial suture closure, Micrognathia, Hip dysplasia, Intrauterine growt...	OMIM:620005
Slc39A8-Cdg	Osteopenia, Elbow flexion contracture, Limb undergrowth, Cutaneous syndactyly of toes, Knee flexi...	ORPHA:468699
3P25.3 Microdeletion Syndrome	Proximal placement of thumb, Broad thumb, Postaxial polydactyly, Micrognathia, Broad hallux, Cong...	ORPHA:435638
Pallister-Hall Syndrome	Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Syndactyly, Intrauter...	OMIM:146510
Jacobsen Syndrome	Clinodactyly of the 5th finger, Pectus excavatum, Missing ribs, Micrognathia, Flexion contracture...	OMIM:147791
Developmental Malformations-Deafness-Dystonia Syndrome	Femoral retroversion, Hypoplastic scapulae, Death in early adulthood, Micromelia	ORPHA:79107
Developmental And Epileptic Encephalopathy 89	Death in childhood, Narrow chest, Neonatal death, Limb undergrowth, Flexion contracture, Microret...	OMIM:619124
Gomez-Lopez-Hernandez Syndrome	Wormian bones, Craniosynostosis, Wide anterior fontanel	OMIM:601853
Floating-Harbor Syndrome	Ivory epiphyses of the distal phalanges of the hand, Clinodactyly of the 5th finger, 11 pairs of ...	OMIM:136140
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Rhizomelia, Narrow chest, Wide anterior fontanel, Tibial bowing, Femoral bowing, Mesomelia, Neona...	OMIM:616482
Congenital Bile Acid Synthesis Defect Type 2	Rickets	ORPHA:79303
Geleophysic Dysplasia 3	Limited elbow movement, Epiphyseal dysplasia, Limb undergrowth, Brachydactyly, Limited wrist move...	OMIM:617809
Mandibuloacral Dysplasia	Short clavicles, Delayed cranial suture closure, Osteolytic defects of the distal phalanges of th...	ORPHA:2457
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly	OMIM:228250
Mosaic Trisomy 9	Rocker bottom foot, Large fontanelles, Finger clinodactyly, Deep palmar crease, Limitation of joi...	ORPHA:99776
Leopard Syndrome 1	Limited elbow movement, Cubitus valgus, Spina bifida occulta, Pectus carinatum, Scapular winging,...	OMIM:151100
Muscular Dystrophy, Duchenne Type	Congestive heart failure, Cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Abnormal EKG	OMIM:310200
Joubert Syndrome 21	Short ribs, Bell-shaped thorax	OMIM:615636
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets	OMIM:616026
Microphthalmia, Syndromic 3	Vertebral hypoplasia, Missing ribs, Supernumerary ribs, Rib fusion, Vertebral fusion	OMIM:206900
Dubowitz Syndrome	Clinodactyly of the 5th finger, Spina bifida occulta, Sandal gap, Aplasia/Hypoplasia of the thumb...	ORPHA:235
X Small Rings	Reduced bone mineral density, Clinodactyly of the 5th finger, Upper limb undergrowth, 2-3 toe syn...	ORPHA:96201
Gm1 Gangliosidosis	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Joint stiffness, Camptodactyly of ...	ORPHA:354
Hepatoportal Sclerosis	Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal bleeding, Anemia, Thrombocytope...	ORPHA:64743
Orofaciodigital Syndrome Xiv	Preaxial polydactyly, Aplasia of the epiglottis, Short ribs, Postaxial hand polydactyly, Microgna...	OMIM:615948
Spondyloenchondrodysplasia	Arthritis, Pectus carinatum, Hypoplastic ilia, Limb undergrowth, Metaphyseal dysplasia, Short dis...	ORPHA:1855
Endocrine-Cerebroosteodysplasia	Preaxial polydactyly, Fibular bowing, Barrel-shaped chest, Sandal gap, Hitchhiker thumb, Narrow c...	OMIM:612651
Hypothyroidism, Congenital, Nongoitrous, 6	Wormian bones, Congenital hip dislocation	OMIM:614450
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Pectus carinatum, Delayed cranial suture closure, Flexion contracture, Overlapping toe, Overlappi...	OMIM:619383
Craniosynostosis 4	Lambdoidal craniosynostosis, Bicoronal synostosis, Coronal craniosynostosis, Pansynostosis, Metop...	OMIM:600775
Fanconi Anemia	Hypoplasia of the ulna, Abnormal thumb morphology, Aplasia/Hypoplasia of fingers, Reduced bone mi...	ORPHA:84
Noonan Syndrome	Juvenile myelomonocytic leukemia, Abnormal bleeding, Abnormal platelet function, Abnormality of t...	ORPHA:648
Aymé-Gripp Syndrome	Rocker bottom foot, Large fontanelles, Clinodactyly of the 5th finger, Delayed cranial suture clo...	ORPHA:1272
Aicardi Syndrome	Bifid ribs, Proximal placement of thumb, Missing ribs, Supernumerary ribs, Block vertebrae, Rib f...	OMIM:304050
Mgat2-Cdg	Abnormal bleeding, Impaired lymphocyte transformation with phytohemagglutinin, Impaired platelet ...	ORPHA:79329
Menkes Disease	Abnormal metaphysis morphology, Tarsal synostosis, Chondrocalcinosis, Narrow chest, Wormian bones...	ORPHA:565
Osteogenesis Imperfecta, Type Xx	Narrow chest, Asymmetry of the thorax, Multiple prenatal fractures, Wormian bones, Intrauterine g...	OMIM:618644
Hajdu-Cheney Syndrome	Osteopenia, Partial absence of toe, Absent frontal sinuses, Pectus carinatum, Wormian bones, Decr...	ORPHA:955
Sifrim-Hitz-Weiss Syndrome	Fused cervical vertebrae, Short clavicles, Flat acetabular roof, Short femoral neck, Wormian bone...	OMIM:617159
Aminopterin/Methotrexate Embryofetopathy	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognathia, Mesomelia, Intraute...	ORPHA:1908
Marshall-Smith Syndrome	Short mandibular rami, Prominent fingertip pads, Pectus excavatum, Short distal phalanx of finger...	OMIM:602535
De Barsy Syndrome	Osteopenia, Pectus excavatum, Intrauterine growth retardation, Coxa vara, Congenital hip dislocat...	ORPHA:2962
Saethre-Chotzen Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Triphalangeal thumb, ...	ORPHA:794
Hajdu-Cheney Syndrome	Osteopenia, Genu valgum, Osteolytic defects of the phalanges of the hand, Pathologic fracture, Fi...	OMIM:102500
Jacobsen Syndrome	Finger syndactyly, Missing ribs, Death in infancy, Toe clinodactyly, Hand polydactyly, Toe syndac...	ORPHA:2308
Celiac Disease, Susceptibility To, 1	Rickets, Osteoporosis	OMIM:212750
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Hypoplastic iliac wing, Abnormal ...	ORPHA:2637
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Ankle flexion contracture, Reduced bone mineral density, Hip contracture, Knee flexion contracture	OMIM:620232
Cog8-Cdg	Prolonged prothrombin time, Spontaneous hematomas	ORPHA:95428
Oculodentodigital Dysplasia, Autosomal Recessive	2-4 toe cutaneous syndactyly, Large fontanelles, 4-5 finger syndactyly, Micrognathia, Broad long ...	OMIM:257850
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr...	OMIM:261740
Parietal Foramina 1	Wormian bones	OMIM:168500
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Wormian bones, Pectus excavatum, Prominent metopic ridge, Micrognathia...	ORPHA:2789
Noonan Syndrome 9	Prolonged prothrombin time	OMIM:616559
D-Bifunctional Protein Deficiency	Osteopenia, Large fontanelles, Hammertoe, Delayed cranial suture closure, Split hand, Pectus exca...	OMIM:261515
Cornelia De Lange Syndrome 1	Limited elbow extension, Hypoplasia of the radius, Clinodactyly of the 5th finger, Proximal place...	OMIM:122470
Wrinkly Skin Syndrome	Osteopenia, Deep palmar crease, Slender long bone, Wide anterior fontanel, Delayed cranial suture...	OMIM:278250
Desmosterolosis	Osteopetrosis, Increased bone mineral density, Micromelia, Metatarsus adductus, Micrognathia, Int...	ORPHA:35107
Tetrasomy 9P	Bilateral single transverse palmar creases, Large fontanelles, Clinodactyly of the 5th finger, Jo...	ORPHA:3310
Hallermann-Streiff Syndrome	Decreased number of sternal ossification centers, Abnormality of the hand, Tracheomalacia, Slende...	OMIM:234100
Lessel-Kreienkamp Syndrome	Clinodactyly of the 5th finger, Wide cranial sutures	OMIM:619149
Autosomal Recessive Robinow Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor...	ORPHA:1507
Autosomal Dominant Kenny-Caffey Syndrome	Calvarial osteosclerosis, Delayed cranial suture closure, Decreased skull ossification, Thin long...	ORPHA:93325
Pseudohypoparathyroidism Type 1A	Abnormal platelet function	ORPHA:79443
Ulnar Agenesis And Endocardial Fibroelastosis	Aplasia of the ulna, Neonatal death, Finger aplasia	OMIM:276822
Ulnar-Mammary Syndrome	Hypoplasia of the ulna, Stiff elbow, Aplasia of the 4th metacarpal, Hypoplasia of the radius, Apl...	OMIM:181450
Hunter-Macdonald Syndrome	Large fontanelles, Clinodactyly of the 5th finger, Cubitus valgus, Pectus carinatum, 2-3 toe synd...	OMIM:611962
Rajab Interstitial Lung Disease With Brain Calcifications 1	Rickets, Osteopenia, Reduced bone mineral density, Pectus excavatum, Joint hypermobility, Intraut...	OMIM:613658
Pseudotrisomy 13 Syndrome	2-3 toe syndactyly, Postaxial hand polydactyly, 11 pairs of ribs, Postaxial foot polydactyly	OMIM:264480
Tenorio Syndrome	Joint hypermobility, Delayed cranial suture closure, Osteopenia	OMIM:616260
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs	ORPHA:77298
Bile Acid Synthesis Defect, Congenital, 4	Prolonged prothrombin time, Hematochezia	OMIM:214950
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Congestive heart failure, Abnormality of blood circulation, Left ventricula...	ORPHA:860
Ellis Van Creveld Syndrome	Genu valgum, Cubitus valgus, Narrow chest, Short thorax, Synostosis of carpal bones, Abnormal pel...	ORPHA:289
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Reduced bone mineral density, Pectus excavatum, Long fibula	ORPHA:935
Alg9-Cdg	Narrow greater sciatic notch, Abnormal bone ossification, Rhizomelia, Flared metaphysis, Hitchhik...	ORPHA:79328
Kasabach-Merritt Phenomenon	Prolonged prothrombin time, Purpura, Anemia, Petechiae, Reticulocytosis, Thrombocytopenia, Leukop...	ORPHA:2330
Cornelia De Lange Syndrome	Bilateral single transverse palmar creases, Short 1st metacarpal, Proximal placement of thumb, Cl...	ORPHA:199
Apert Syndrome	Large fontanelles, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Broad thumb, C...	ORPHA:87
Silver-Russell Syndrome	Clinodactyly of the 5th finger, Sandal gap, Abnormal appendicular skeleton morphology, Delayed cr...	ORPHA:813
Cardiofaciocutaneous Syndrome	Genu valgum, Deep palmar crease, Cubitus valgus, Pectus excavatum, Abnormal morphology of ulna, P...	ORPHA:1340
Orofaciodigital Syndrome Type 2	Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact...	ORPHA:2751
Neu-Laxova Syndrome 1	Rocker bottom foot, Stillbirth, Radial deviation of finger, Pterygium, Finger syndactyly, Calcane...	OMIM:256520
Lateral Meningocele Syndrome	Wormian bones, Pectus excavatum, Micrognathia, Sclerosis of skull base, Joint hypermobility, Vert...	OMIM:130720
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Narrow chest, Bowing...	ORPHA:667
Dextrocardia	Abnormality of the spleen, T-wave inversion, Abnormal EKG	ORPHA:1666
Cystinosis, Nephropathic	Rickets, Hypophosphatemic rickets, Genu valgum, Rachitic rosary, Metaphyseal widening	OMIM:219800
Infantile Liver Failure Syndrome 3	Prolonged prothrombin time, Splenomegaly	OMIM:618641
White-Sutton Syndrome	Wormian bones, Intrauterine growth retardation, Broad thumb, Micrognathia, Brachydactyly, Joint h...	OMIM:616364
Hypotrichosis And Recurrent Skin Vesicles	Abnormal EKG	OMIM:613102
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Single transverse palmar crease, Micromelia, Broad hallux, Syndactyly, Brachydactyly	OMIM:614800
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Absent tonsils, Lymph node hypoplasia	ORPHA:276
Al Amyloidosis	Gastrointestinal hemorrhage, Hypertrophic cardiomyopathy, Jaw claudication, Abnormal P wave, Arrh...	ORPHA:85443
Hemophagocytic Lymphohistiocytosis, Familial, 2	Prolonged prothrombin time, Anemia, Hemophagocytosis, Pancytopenia, Thrombocytopenia, Splenomegal...	OMIM:603553
Baraitser-Winter Cerebrofrontofacial Syndrome	Osteochondrosis, Large fontanelles, Delayed cranial suture closure, Prominent metopic ridge, Join...	ORPHA:2995
Purine Nucleoside Phosphorylase Deficiency	Splenomegaly, Lymph node hypoplasia, Cerebral vasculitis	OMIM:613179
Robinow Syndrome, Autosomal Dominant 1	Radial deviation of finger, Rhizomelia, Duplication of the distal phalanx of hand, Dislocated rad...	OMIM:180700
1P36 Deletion Syndrome	Clinodactyly of the 5th finger, 11 pairs of ribs, Delayed cranial suture closure, Rib fusion, Joi...	ORPHA:1606
Congenital Sialidosis Type 2	Hepatosplenomegaly, Abnormal EKG, Telangiectasia	ORPHA:93400
Hellp Syndrome	Prolonged prothrombin time, Decreased mean corpuscular hemoglobin concentration, Internal hemorrh...	ORPHA:244242
Sialuria	Prolonged prothrombin time, Hepatosplenomegaly	ORPHA:3166
Doors Syndrome	Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sirenomelia, 11 pairs of ribs, Spina bifida o...	ORPHA:79500
Friedreich Ataxia	Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy	OMIM:229300
Acrocephalopolydactylous Dysplasia	Craniosynostosis, Postaxial hand polydactyly, Micromelia	OMIM:200995
Schisis Association	Micromelia	ORPHA:63862
Liver Failure, Infantile, Transient	Prolonged prothrombin time, Decreased circulating IgG level	OMIM:613070
Hemophagocytic Lymphohistiocytosis, Familial, 1	Prolonged prothrombin time, Anemia, Hemophagocytosis, Leukopenia, Thrombocytopenia, Splenomegaly	OMIM:267700
Bile Acid Synthesis Defect, Congenital, 3	Prolonged prothrombin time, Hematochezia, Splenomegaly	OMIM:613812
Acyl-Coa Dehydrogenase 9 Deficiency	Prolonged prothrombin time, Cerebellar hemorrhage, Thrombocytopenia	ORPHA:99901
Saethre-Chotzen Syndrome	Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Absent first metatarsal, Delayed cra...	OMIM:101400
Floating-Harbor Syndrome	11 pairs of ribs, Dislocated radial head, Short clavicles, Short metacarpal, Shield chest, Enlarg...	ORPHA:2044
Ogden Syndrome	Delayed cranial suture closure, Broad hallux, Microretrognathia	ORPHA:276432
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Stiff elbow, Hypoplastic pubic bone, Wide anterior fontanel, Wormia...	ORPHA:798
Cholestasis, Progressive Familial Intrahepatic, 5	Prolonged prothrombin time	OMIM:617049
Gapo Syndrome	Bell-shaped thorax, Wide anterior fontanel, Delayed cranial suture closure, Micrognathia, Joint h...	OMIM:230740
Hydrolethalus	Micrognathia, Postaxial hand polydactyly, Micromelia	ORPHA:2189
Hypermethioninemia Due To Adenosine Kinase Deficiency	Prolonged prothrombin time	OMIM:614300
Chromosome 1P36 Deletion Syndrome, Distal	Clinodactyly of the 5th finger, 11 pairs of ribs, Wide anterior fontanel, Short 5th finger, Campt...	OMIM:607872
Diaphragmatic Hernia 4, With Cardiovascular Defects	Clinodactyly of the 5th finger, 11 pairs of ribs, Finger syndactyly, 2-3 toe syndactyly, Microgna...	OMIM:620025
3-Methylglutaconic Aciduria, Type Viib	Prolonged prothrombin time, Abnormal bleeding, Thrombocytopenia, Leukopenia, Neutropenia	OMIM:616271
Aspartylglucosaminuria	Abnormal cortical bone morphology, Arthritis, Pectus carinatum, Joint stiffness, Abnormal morphol...	ORPHA:93
Cardiac-Urogenital Syndrome	Prolonged bleeding time, Accessory spleen	OMIM:618280
Yunis-Varon Syndrome	Bilateral single transverse palmar creases, Absent sternal ossification, Flat acetabular roof, De...	OMIM:216340
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Prolonged prothrombin time, Hepatosplenomegaly	ORPHA:367
Cardiac Diverticulum	Congestive heart failure, Angina pectoris, Tricuspid stenosis, Premature ventricular contraction,...	ORPHA:1686
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Arrhythmia	ORPHA:480864
Infantile Nephropathic Cystinosis	Rickets	ORPHA:411629
Chronic Thromboembolic Pulmonary Hypertension	Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Pul...	ORPHA:70591
8Q24.3 Microdeletion Syndrome	Rocker bottom foot, Pectus excavatum, Cervical ribs, Joint hypermobility, Short 5th finger, Long ...	ORPHA:508488
Short Stature, Microcephaly, And Endocrine Dysfunction	Intrauterine growth retardation, Limb undergrowth, Clinodactyly	OMIM:616541
Classical Ehlers-Danlos Syndrome	Prolonged bleeding time, Ecchymosis, Bruising susceptibility	ORPHA:287
Wrinkly Skin Syndrome	Osteopenia, Deep palmar crease, Multiple palmar creases, Pectus excavatum, Intrauterine growth re...	ORPHA:2834
Robinow Syndrome, Autosomal Dominant 3	Camptodactyly, Broad thumb, Short phalanx of finger, Micrognathia, Mesomelia, Syndactyly, Brachyd...	OMIM:616894
Trisomy 10P	Abnormality of the hand, Ulnar deviated club hands, Thumb contracture, Camptodactyly, Micrognathi...	ORPHA:171929
Hennekam-Beemer Syndrome	Camptodactyly of finger, Micrognathia, Clinodactyly of the 5th finger, Delayed cranial suture clo...	ORPHA:2135
Dopamine Beta-Hydroxylase Deficiency	Syncope, Orthostatic hypotension, Abnormal EKG, Orthostatic syncope	ORPHA:230
Hypomagnesemia 3, Renal	Rickets, Genu valgum, Bowing of the legs, Short metacarpal	OMIM:248250
Rett Syndrome	Prolonged QTc interval, Abnormal T-wave	OMIM:312750
Shwachman-Diamond Syndrome 2	Prolonged prothrombin time, Normocytic anemia, Thrombocytopenia, Neutropenia	OMIM:617941
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Delayed cranial ...	ORPHA:90674
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction	ORPHA:268
Monosomy 13Q34	Prolonged prothrombin time, Epistaxis, Hematochezia	ORPHA:96168
Smith-Lemli-Opitz Syndrome	Rhizomelia, Proximal placement of thumb, Abnormal metacarpal morphology, Finger syndactyly, 2-3 t...	ORPHA:818
Orofaciodigital Syndrome Type 4	Joint dislocation, Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, Camptod...	ORPHA:2753
C Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Joint dislocation, Di...	ORPHA:1308
Autosomal Dominant Robinow Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Pectus excavatum, Micromelia...	ORPHA:3107
Rubinstein-Taybi Syndrome 1	Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Prominent fingert...	OMIM:180849
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Large fontanelles, Finger syndactyly, Delayed cranial suture closure, Broad thumb, Preaxial hand ...	ORPHA:2211
Immunodeficiency 49	Wormian bones, Micrognathia	OMIM:617237
Ayme-Gripp Syndrome	Delayed cranial suture closure, Pectus excavatum, Camptodactyly, Brachydactyly, Radioulnar synost...	OMIM:601088
Autosomal Dominant Cutis Laxa	Osteopenia, Genu recurvatum, Delayed cranial suture closure, Wormian bones, Joint hypermobility, ...	ORPHA:90348
Pallister-Killian Syndrome	Hip dislocation, Rhizomelia, Postaxial hand polydactyly, Short palm, Short phalanx of finger, Pos...	OMIM:601803
Interatrial Communication	Congestive heart failure, Atrial flutter, Right axis deviation, Atrial fibrillation, Right bundle...	ORPHA:1478
Absence Of The Pulmonary Artery	Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Atrial fibr...	ORPHA:980
Smith-Lemli-Opitz Syndrome	2-3 toe cutaneous syndactyly, Hip subluxation, Proximal placement of thumb, Hammertoe, Epiphyseal...	OMIM:270400
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Large fontanelles, Joint dislocation, Delayed cranial suture closure, Pectus excavatum, Arachnoda...	OMIM:601776
Chromosome 14Q11-Q22 Deletion Syndrome	Hip subluxation, Mesomelia, Micrognathia, Prominent metopic ridge	OMIM:613457
S-Adenosylhomocysteine Hydrolase Deficiency	Prolonged prothrombin time	ORPHA:88618
3-Hydroxy-3-Methylglutaric Aciduria	Prolonged prothrombin time, Anemia, Leukocytosis, Leukopenia, Thrombocytosis	ORPHA:20
Alg12-Cdg	Prolonged prothrombin time, Partial absence of specific antibody response to Haemophilus influenz...	ORPHA:79324
Scorpion Envenomation	Myocarditis, Congestive heart failure, Prominent U wave, Hypertension, Premature ventricular cont...	ORPHA:466677
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Short finger, Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossification, H...	ORPHA:226307
Oeis Complex	Absence of the sacrum, 11 pairs of ribs, Talipes equinovarus, Congenital hip dislocation	OMIM:258040
Gitelman Syndrome	Prolonged QT interval, Prominent U wave, Low-to-normal blood pressure, ST segment depression, Ven...	ORPHA:358
Congenital Disorder Of Glycosylation, Type Ia	Prolonged prothrombin time, Decreased circulating IgG level, Thrombocytosis, Decreased circulatin...	OMIM:212065
Leukocyte Adhesion Deficiency Type Ii	Broad palm, Overlapping toe, Limb undergrowth, Intrauterine growth retardation	ORPHA:99843
Coffin-Siris Syndrome 12	Hip subluxation, Ridged cranial sutures, Delayed cranial suture closure, Pectus excavatum, Slende...	OMIM:619325
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Prolonged prothrombin time, Intraventricular hemorrhage	OMIM:619055
Leukocyte Adhesion Deficiency	Abnormal bleeding, Acute myeloid leukemia, Impaired platelet aggregation, Leukocytosis, Abnormali...	ORPHA:2968
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Fibular hypoplasia, Hip subluxation, Cervical C2/C3 vertebral fusion, Tracheomalacia, Micrognathi...	ORPHA:444077
Combined Oxidative Phosphorylation Deficiency 37	Prolonged prothrombin time	OMIM:618329
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged prothrombin time	ORPHA:71212
African Trypanosomiasis	Myocarditis, Congestive heart failure, Lymphadenopathy, Abnormality of circulating cortisol level...	ORPHA:3385
Ogden Syndrome	Clinodactyly of the 5th finger, Sandal gap, Wide anterior fontanel, Delayed cranial suture closur...	OMIM:300855
Agammaglobulinemia, X-Linked	Lymph node hypoplasia	OMIM:300755
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Prolonged prothrombin time	OMIM:311250
Isolated Biliary Atresia	Prolonged prothrombin time, Splenomegaly	ORPHA:30391
Bartter Syndrome, Type 2, Antenatal	Impaired platelet aggregation	OMIM:241200
Congenital Disorder Of Glycosylation, Type It	Prolonged prothrombin time	OMIM:614921
Marburg Hemorrhagic Fever	Prolonged prothrombin time, Abnormal bleeding, Increased circulating antibody level, Petechiae, N...	ORPHA:99826
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Delayed cranial suture closure, 2-3 toe syndactyly, Tibial torsion, Overlapping toe, Tapered finger	OMIM:618653
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Delayed cranial suture closure	OMIM:613038
Alternating Hemiplegia Of Childhood	Cardiac conduction abnormality, Cardiomyopathy, Arrhythmia, Abnormal T-wave	ORPHA:2131
Tyrosinemia, Type I	Prolonged prothrombin time, Gastrointestinal hemorrhage, Anemia, Melena, Splenomegaly	OMIM:276700
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal bleeding, Anemia, Decreased cir...	ORPHA:247598
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Prolonged prothrombin time, Polycythemia, Splenomegaly	ORPHA:309854
Abetalipoproteinemia	Prolonged prothrombin time, Abnormal bleeding, Anemia, Reticulocytosis, Acanthocytosis	ORPHA:14
Yellow Fever	Prolonged prothrombin time, Hematemesis, Abnormal bleeding, Leukocytosis, Internal hemorrhage, In...	ORPHA:99829
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Sinus tachycardia, Abnormal pulse pressure, Hypotension, ST segment depres...	ORPHA:466650
Hypermobile Ehlers-Danlos Syndrome	Abnormality of the wrist, Joint dislocation, Wormian bones, Limitation of joint mobility, Arachno...	ORPHA:285
Fraser Syndrome	Finger syndactyly, Abnormal rib morphology, Death in infancy, Limb undergrowth, Wide pubic symphy...	ORPHA:2052
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Rocker bottom foot, Tarsal synostosis, Ulnar bowing, Femoral bowing, Camptodactyly, Humeroradial ...	OMIM:201750
Dihydropyrimidine Dehydrogenase Deficiency	Epiphyseal dysplasia, Deep palmar crease, Micromelia	ORPHA:1675
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	11 pairs of ribs	OMIM:615287
Acute Liver Failure	Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal bleeding, Thrombocytopenia, Int...	ORPHA:90062
Cerebellar-Facial-Dental Syndrome	Abnormal T-wave	ORPHA:444072
Peters Plus Syndrome	Clinodactyly of the 5th finger, Rhizomelia, Spina bifida occulta, Micromelia, Micrognathia, Short...	ORPHA:709
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Prolonged prothrombin time, Splenomegaly	ORPHA:404454
Medulloblastoma	Delayed cranial suture closure	ORPHA:616
Congenital Disorder Of Glycosylation, Type Iiw	Prolonged prothrombin time, Anemia, Thrombocytopenia, Splenomegaly, Bleeding with minor or no tra...	OMIM:619525
Primary Sclerosing Cholangitis	Prolonged prothrombin time, Polyclonal elevation of IgM, Hepatosplenomegaly, Splenomegaly	ORPHA:171
Woodhouse-Sakati Syndrome	Hyperlipidemia, Abnormal T-wave	OMIM:241080
Friedreich Ataxia 2	Congestive heart failure, Abnormal EKG, Concentric hypertrophic cardiomyopathy	OMIM:601992
Woodhouse-Sakati Syndrome	Hyperlipidemia, Abnormal T-wave	ORPHA:3464

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ano6

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ano6.

No publications found that use IMPC mice or data for Ano6.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ano6^{tm442763(L1L2_GT0_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ano6^em3(IMPC)Tcp	Indel	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ano6 MGI:2145890

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

MicroCT E14.5-E15.5

X-ray

Immunophenotyping

Immunophenotyping

Gross Pathology and Tissue Collection

X-ray

X-ray

X-ray

Histopathology

Eye Morphology

Human diseases caused by Ano6 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data