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Gene: Col27a1 MGI:2672118

Gene Summary

Name:

collagen, type XXVII, alpha 1

Synonyms:

5730512J02Rik

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
abnormal placenta morphology	Col27a1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal blood vessel morphology	Col27a1^em1(IMPC)Mbp	HOM	E15.5	0.00
increased bone mineral density	Col27a1^em1(IMPC)Mbp	HET	Early adult	8.44×10^-06
abnormal placenta morphology	Col27a1^em1(IMPC)Mbp	HET	E15.5	0.00
blind uterus	Col27a1^em1(IMPC)Mbp	HET	Early adult	0.00
edema	Col27a1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal kidney morphology	Col27a1^em1(IMPC)Mbp	HET	Early adult	0.00
pale liver	Col27a1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal spleen morphology	Col27a1^em1(IMPC)Mbp	HET	Early adult	0.00
embryonic growth retardation	Col27a1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal placenta vasculature	Col27a1^em1(IMPC)Mbp	HOM	E15.5	0.00
cleft palate	Col27a1^em1(IMPC)Mbp	HOM	E15.5	0.00
enlarged spleen	Col27a1^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged kidney	Col27a1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal retina morphology	Col27a1^em1(IMPC)Mbp	HET	Early adult	9.23×10^-05
hemorrhage	Col27a1^em1(IMPC)Mbp	HOM	E15.5	0.00
edema	Col27a1^em1(IMPC)Mbp	HET	E15.5	0.00
preweaning lethality, complete penetrance	Col27a1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal placenta vasculature	Col27a1^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal craniofacial morphology	Col27a1^em1(IMPC)Mbp	HOM	E15.5	0.00
small spleen	Col27a1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal facial morphology	Col27a1^em1(IMPC)Mbp	HOM	E15.5	0.00

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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.

Gross Morphology Embryo E14.5-E15.5

Images

24 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Human diseases caused by Col27a1 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 Col27a1 (1 diseases)
Human diseases predicted to be associated with Col27a1 (1569 diseases)

The table below shows human diseases associated to Col27a1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Steel Syndrome		Limited elbow extension, Clinodactyly of the 5th finger, Dislocated radial head, Coxa vara, Carpa...	OMIM:615155

The table below shows human diseases predicted to be associated to Col27a1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Lipedema	Edema	OMIM:614103
Hepatorenocardiac Degenerative Fibrosis	Cirrhosis, Jaundice, Enlarged kidney, Tubular luminal dilatation, Hepatocellular carcinoma, Renal...	OMIM:619902
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Metatropic Dysplasia	Narrow greater sciatic notch, Relatively short spine, Short ribs, Long coccyx, Cupped ribs, Flare...	OMIM:156530
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Angioedema, Hereditary, 6	Angioedema, Facial edema, Edema of the dorsum of hands	OMIM:619363
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Abnormal cortical bone morphology, Increased bone mineral density, Splenomegaly, Ab...	ORPHA:2204
Achondrogenesis, Type Ib	Stillbirth, Absent or minimally ossified vertebral bodies, Narrow chest, Inguinal hernia, Respira...	OMIM:600972
Mesomelic Limb Shortening And Bowing	Retrognathia, Mesomelic arm shortening, Camptodactyly of finger, Micrognathia, Mesomelic leg shor...	OMIM:249710
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Osteopetrosis, Hepatomegaly, Anemia, Increased bone mineral density, Reticulocytos...	OMIM:611490
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu...	OMIM:613496
Atelosteogenesis, Type Ii	Lacunar halos around chondrocytes, Stillbirth, Sandal gap, Bifid humerus, Short greater sciatic n...	OMIM:256050
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly	ORPHA:46532
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal metaphysis morphology, Abnormal lung lobation, Retrognathia, Abnormal hip bone morpholog...	ORPHA:2631
Achondrogenesis Type 1A	Narrow chest, Short thorax, Recurrent fractures, Femoral hernia, Micromelia, Abnormal enchondral ...	ORPHA:93299
Achondrogenesis Type 1B	Narrow chest, Short thorax, Aplasia/Hypoplasia of the lungs, Abnormal rib morphology, Micromelia,...	ORPHA:93298
Dysosteosclerosis	Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Broad ribs, Absent paranasal sinuse...	OMIM:224300
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Multiple Synostoses Syndrome 1	Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec...	OMIM:186500
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal shoulder morphology, Hernia of the abdominal wall, Micrognathia, Mesomelia, Brachydactyl...	ORPHA:1277
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,...	OMIM:615382
Intermediate Osteopetrosis	Anemia, Optic atrophy from cranial nerve compression, Abnormality of bone mineral density, Recurr...	ORPHA:210110
Schneckenbecken Dysplasia	Lateral clavicle hook, Stillbirth, Narrow chest, Snail-like ilia, Short ribs, Flat acetabular roo...	OMIM:269250
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Retrognathia, Hand clenching, Respiratory insufficiency due to muscle weaknes...	OMIM:611890
Lethal Congenital Contracture Syndrome 11	Retrognathia, Elbow flexion contracture, Camptodactyly, Bilateral talipes equinovarus, Pulmonary ...	OMIM:617194
Hyperekplexia 4	Adducted thumb, Inguinal hernia, Camptodactyly, Distal arthrogryposis, Flexion contracture, Umbil...	OMIM:618011
Tyrosinemia Type 1	Hepatomegaly, Rickets of the lower limbs, Generalized aminoaciduria, Hepatocellular carcinoma, Sp...	ORPHA:882
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Jeune Syndrome	Abnormal metaphysis morphology, Abnormal clavicle morphology, Narrow chest, Respiratory insuffici...	ORPHA:474
Seckel Syndrome 4	Intrauterine growth retardation, Retrognathia, Steep acetabular roof, 11 pairs of ribs	OMIM:613676
Fetal Minoxidil Syndrome	Micrognathia, Clinodactyly of the 5th finger, Umbilical hernia	ORPHA:1918
Scarf Syndrome	Inguinal hernia, Craniosynostosis, Pectus carinatum, Diastasis recti, Short sternum, Enamel hypop...	ORPHA:3134
Kniest Dysplasia	Rhizomelia, Inguinal hernia, Abnormal cartilage collagen, Splayed epiphyses, Flared metaphysis, D...	OMIM:156550
Pseudoachondroplasia	Short long bone, Flat acetabular roof, Hypoplastic pelvis, Joint stiffness, Metaphyseal irregular...	ORPHA:750
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Increased bone mineral density, Arthritis, Leukocytosis, S...	ORPHA:37748
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Buschke-Ollendorff Syndrome	Joint stiffness, Flexion contracture, Osteopoikilosis	OMIM:166700
Kyphomelic Dysplasia	Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Short thorax, Flat acetabula...	ORPHA:1801
Fetal Akinesia Deformation Sequence 4	Rocker bottom foot, Retrognathia, 11 pairs of ribs, Prenatal death, Camptodactyly, Micrognathia, ...	OMIM:618393
Achondrogenesis	Narrow chest, Inguinal hernia, Short thorax, Abnormality of bone mineral density, Abnormal enchon...	ORPHA:932
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
Flynn-Aird Syndrome	Increased bone mineral density, Osteoporosis, Joint stiffness, Rod-cone dystrophy, Increased bone...	OMIM:136300
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Osteopetrosis, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly	OMIM:615085
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Renal cyst, Polycystic liver disease	OMIM:109130
Isolated Osteopoikilosis	Abnormality of the kidney, Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic fo...	ORPHA:166119
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l...	ORPHA:174
Spondylometaphyseal Dysplasia, X-Linked	Short finger, Respiratory insufficiency, Hyperextensibility of the finger joints, Pectus carinatu...	OMIM:313420
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Osteoporosis, Splenomegaly, Abnor...	ORPHA:100024
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Osteopetrosis, Anemia, Increased bone mineral density, Cortical s...	OMIM:620366
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Stillbirth, Ankle flexion contracture, Retrognathia, Elbow flexion contracture, Scapular winging,...	OMIM:617468
Tarp Syndrome	Rocker bottom foot, Hypoplasia of the radius, Pectus excavatum, Bilateral talipes equinovarus, Po...	OMIM:311900
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral ...	OMIM:620076
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh...	OMIM:118651
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones, Optic atrop...	OMIM:239100
Odontochondrodysplasia 1	Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car...	OMIM:184260
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Clinodactyly of the 5th toe, Retrognathia, Clinodactyly of the 5th finger, Proximal placement of ...	OMIM:620113
Spinal Muscular Atrophy, Type I	Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections, Death in childhood	OMIM:253300
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Optic atrophy, Craniosynostosis, Increased bone mineral density	ORPHA:178377
Odontochondrodysplasia	Abnormal metaphysis morphology, Retrognathia, Square pelvis bone, Narrow chest, Delayed eruption ...	ORPHA:166272
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Muscular Hypertonia, Lethal	Pneumonia, Umbilical hernia, Death in infancy	OMIM:254120
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Inguinal hernia, Wide anterior fontanel, Pectus excavatum, Micrognathia, Umbilical hernia, Pulmon...	OMIM:618272
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Wide anterior fontanel, Omphalocele, Short sternum, Malar flatte...	OMIM:222448
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr...	ORPHA:85445
Marshall-Smith Syndrome	Short mandibular rami, Retrognathia, Prominent fingertip pads, Pectus excavatum, Recurrent aspira...	OMIM:602535
Aminopterin Syndrome Sine Aminopterin	Inguinal hernia, Umbilical hernia, Arachnodactyly, Rudimentary postaxial polydactyly of hands, Mi...	OMIM:600325
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Adams-Oliver Syndrome 4	Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes, Aplasia of the...	OMIM:615297
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Scarf Syndrome	Lambdoidal craniosynostosis, Barrel-shaped chest, Inguinal hernia, Pectus carinatum, Diastasis re...	OMIM:312830
Lethal Recessive Chondrodysplasia	Narrow chest, Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowt...	ORPHA:1423
Jawad Syndrome	Retrognathia, Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th fing...	OMIM:251255
Boomerang Dysplasia	Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca...	ORPHA:1263
Sclerosteosis	Optic atrophy, Increased bone mineral density, Abnormal cortical bone morphology, Craniofacial hy...	ORPHA:3152
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Joint hypermobility, Respiratory failure, Hypoplasia of the capital femoral epiphysis	OMIM:600561
Prieto Syndrome	Retrognathia, Radial deviation of finger, 11 pairs of ribs, Inguinal hernia, Osteoporosis, Coxa v...	OMIM:309610
Renal Dysplasia	Pelvic mass, Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron mo...	ORPHA:93108
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Orofaciodigital Syndrome Iii	Supernumerary tooth, Postaxial hand polydactyly, Pectus excavatum, Short sternum, Postaxial foot ...	OMIM:258850
Cooper-Jabs Syndrome	Congenital diaphragmatic hernia, Reduced bone mineral density, Proximal placement of thumb, Abnor...	ORPHA:1488
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Shor...	OMIM:250460
Lethal Osteosclerotic Bone Dysplasia	Retrognathia, Mandibular aplasia, Micrognathia, Intrauterine growth retardation, Respiratory failure	ORPHA:1832
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Retrognathia, Inguinal hernia, Osteoporosis, Bilateral talipes equinovarus, Supernumerary ribs, F...	ORPHA:2958
Lymphatic Malformation 11	Lymphedema, Pedal edema	OMIM:619401
Momo Syndrome	Abnormal bone ossification, Delayed eruption of teeth, Femoral bowing, Short sternum, Large hands...	ORPHA:2563
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Narrow chest, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly,...	OMIM:611263
Greig Cephalopolysyndactyly Syndrome	Congenital diaphragmatic hernia, Craniosynostosis, Finger syndactyly, Postaxial hand polydactyly,...	ORPHA:380
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Short long bone, Short ribs, Flat acetabular roof, Hypoplastic ischia, Dumbbell-shaped long bone,...	OMIM:151210
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Proximal placement of thumb, Dislocated radial head, Intrauterin...	OMIM:122470
Achondrogenesis Type 2	Abnormal bone ossification, Delayed pubic bone ossification, Narrow chest, Short long bone, Short...	ORPHA:93296
Diastrophic Dysplasia	Proximal placement of thumb, Joint stiffness, Symphalangism affecting the phalanges of the hand, ...	ORPHA:628
Mesomelia-Synostoses Syndrome	Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Clinodactyl...	ORPHA:2496
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Retrognathia, Large placenta, Inguinal hernia, Joint hypermobility, Prominent sternum, Pectus exc...	ORPHA:254528
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c...	OMIM:208540
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Genu valgum, Ulnar deviated club hands, Arthralgia of ...	ORPHA:166002
Arthrochalasia Ehlers-Danlos Syndrome	Scarring, Retrognathia, Inguinal hernia, Femoral hernia, Coxa vara, Joint stiffness, Micrognathia...	ORPHA:1899
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Flexion contracture, Respiratory failure, Respiratory insufficiency due to muscle weakness, Death...	OMIM:300717
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl...	OMIM:616217
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	11 pairs of ribs, Inguinal hernia, Knee flexion contracture, Respiratory insufficiency, Elbow fle...	OMIM:616266
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly, Recurrent fractures	ORPHA:417
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Ulbright-Hodes Syndrome	Pneumothorax, Hypoplasia of the radius, Fibular aplasia, Thin ribs, Short ribs, Severe intrauteri...	ORPHA:3404
Denys-Drash Syndrome	Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Focal segmental glomerulosclerosi...	OMIM:194080
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular...	OMIM:232220
Momo Syndrome	Delayed eruption of teeth, Short sternum, Large hands, Dental malocclusion, Taurodontia	OMIM:157980
Greenberg Dysplasia	Retrognathia, Short long bone, Short ribs, Short metacarpal, Decreased skull ossification, Multip...	OMIM:215140
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Death in childhood, Narrow chest, Short long bone, Short ribs, Coarse metaphyseal trabecularizati...	OMIM:618961
Osseous Heteroplasia, Progressive	Ectopic ossification in muscle tissue, Ankylosis, Limb undergrowth	OMIM:166350
Thanatophoric Dysplasia, Type Ii	Narrow chest, Short greater sciatic notch, Flared metaphysis, Respiratory insufficiency, Wide-cup...	OMIM:187601
Melorheostosis With Osteopoikilosis	Abnormal cortical bone morphology, Osteopoikilosis	ORPHA:1879
Ullrich Congenital Muscular Dystrophy	Elbow flexion contracture, Slender finger, Respiratory failure, Micrognathia, Wrist hypermobility...	ORPHA:75840
Acrocapitofemoral Dysplasia	Narrow chest, Short thorax, Pectus carinatum, Pectus excavatum, Flared iliac wing, Coxa vara, Abn...	ORPHA:63446
Osteopetrosis, Autosomal Recessive 1	Optic atrophy, Femur fracture, Osteopetrosis, Hepatomegaly, Anemia, Calvarial osteosclerosis, Pan...	OMIM:259700
Acromesomelic Dysplasia 4	Sandal gap, Short metacarpal, Mesomelia, Metaphyseal irregularity, Prominent deltoid tuberosities...	OMIM:619636
Congenital Myopathy 10A, Severe Variant	Respiratory insufficiency, Pectus excavatum, Camptodactyly of finger, Respiratory failure, Talipe...	OMIM:614399
Pontocerebellar Hypoplasia, Type 1C	Respiratory insufficiency, Respiratory failure, Joint contracture, Death in childhood	OMIM:616081
Imagawa-Matsumoto Syndrome	Mandibular prognathia, Camptodactyly, Large hands, Umbilical hernia, Clinodactyly	OMIM:618786
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Respiratory insufficiency, Short long bo...	OMIM:615633
Schwartz-Jampel Syndrome, Type 1	Flexion contracture of toe, Pectus carinatum, Wrist flexion contracture, Umbilical hernia, Anteri...	OMIM:255800
Autosomal Recessive Spondylocostal Dysostosis	Congenital diaphragmatic hernia, Spina bifida occulta, Inguinal hernia, Finger syndactyly, Respir...	ORPHA:2311
Axial Spondylometaphyseal Dysplasia	Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short...	ORPHA:168549
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology	ORPHA:3416
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Enlarged polycystic ovaries, Polycystic ovaries	ORPHA:90301
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis, Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenome...	OMIM:612840
Endosteal Hyperostosis, Worth Type	Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial...	ORPHA:2790
Craniodiaphyseal Dysplasia, Autosomal Dominant	Optic atrophy, Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis, Papilledema, ...	OMIM:122860
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Fractures of the long bones, Abnorm...	ORPHA:464329
Congenital Myopathy 14	Elbow flexion contracture, Death in infancy, Hip contracture, Respiratory insufficiency due to mu...	OMIM:618414
Osteochondrosis Of The Metatarsal Bone	Joint stiffness, Arthritis, Sclerosis of foot bone, Thickened cortex of bones	ORPHA:564003
Arthrogryposis, Distal, Type 1C	Rocker bottom foot, Retrognathia, Clinodactyly of the 5th finger, Shoulder flexion contracture, M...	OMIM:619110
Ghosal Hematodiaphyseal Dysplasia	Increased bone mineral density, Myelofibrosis, Bone marrow hypocellularity, Thrombocytopenia, Leu...	OMIM:231095
Osteopetrosis, Autosomal Dominant 2	Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Bone marrow ...	OMIM:166600
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Thoracomelic Dysplasia	Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg...	ORPHA:1803
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati...	OMIM:615415
Turnpenny-Fry Syndrome	Hypoplasia of the primary teeth, Pectus carinatum, Thoracic kyphoscoliosis, Pectus excavatum, Pro...	OMIM:618371
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Femur fracture, Spina bifida occulta, Congenital hip dislocation, Respiratory failure, Arthrogryp...	OMIM:618291
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Ambiguous genitalia, Hyperechogenic kidneys	OMIM:613885
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing...	OMIM:608728
Majeed Syndrome	Glomerulopathy, Hepatomegaly, Hypochromic microcytic anemia, Increased bone mineral density, Leuk...	ORPHA:77297
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology	ORPHA:1802
Surfactant Metabolism Dysfunction, Pulmonary, 3	Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Crazy paving pattern, ...	OMIM:610921
Chondrodysplasia, Blomstrand Type	Stillbirth, Narrow chest, Flared metaphysis, Generalized osteosclerosis, Short ribs, Micromelia, ...	OMIM:215045
Mueller-Weiss Syndrome	Knee osteoarthritis, Arthritis, Limitation of movement at ankles, Joint stiffness, Sclerosis of f...	ORPHA:566943
Anauxetic Dysplasia 3	Retrognathia, Hip subluxation, Genu valgum, Narrow chest, Broad middle phalanx of finger, Metaphy...	OMIM:618853
Autism Spectrum Disorder Due To Auts2 Deficiency	Retrognathia, Inguinal hernia, Joint contracture of the 5th finger, Congenital contracture, Micro...	ORPHA:352490
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Craniosynostosis, Pectus carinatum, Bowing of the long bones, Umbilical hernia, Short palm, Micro...	ORPHA:171839
Dyssegmental Dysplasia, Silverman-Handmaker Type	Narrow chest, Clubbing of fingers, Hypoplastic pubic bone, Respiratory insufficiency, Miscarriage...	ORPHA:1865
Trimethylaminuria	Trimethylaminuria, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Metatropic Dysplasia	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Narrow chest, Halberd-shaped pelv...	ORPHA:2635
Immunodeficiency 95	Respiratory failure, Recurrent respiratory infections, Recurrent viral upper respiratory tract in...	OMIM:619773
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ...	ORPHA:93351
Mucopolysaccharidosis-Plus Syndrome	Optic atrophy, Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal seg...	OMIM:617303
Silver-Russell Syndrome Due To 11P15 Microduplication	Intrauterine growth retardation, Severe intrauterine growth retardation, Clinodactyly of the 5th ...	ORPHA:231144
Tarp Syndrome	Rocker bottom foot, Finger syndactyly, Pectus excavatum, Postaxial polydactyly, Short sternum, Ha...	ORPHA:2886
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Intellectual Developmental Disorder, Autosomal Dominant 26	Clinodactyly of the 5th finger, Inguinal hernia, Micrognathia, Umbilical hernia, Intrauterine gro...	OMIM:615834
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Death in childhood, Clinodactyly of the 5th finger, Inguinal hernia, Knee flexion con...	OMIM:616809
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst...	OMIM:602088
Bone Dysplasia, Lethal Holmgren Type	Abnormal thumb morphology, Abnormal femur morphology, Abnormal diaphysis morphology, Rhizomelia, ...	ORPHA:1842
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Amelogenesis imperfecta, Genu valgum, Small epiphyses, Inguinal hernia, Short thorax, Mandibular ...	OMIM:618363
Greig Cephalopolysyndactyly Syndrome	1-3 toe syndactyly, Y-shaped metatarsals, Inguinal hernia, Craniosynostosis, Postaxial hand polyd...	OMIM:175700
Heart-Hand Syndrome Type 2	Abnormal clavicle morphology, Short 4th metacarpal, Abnormal shoulder morphology, Abnormal metaca...	ORPHA:1350
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Orofaciodigital Syndrome Type 3	Thoracic kyphosis, Postaxial hand polydactyly, Pectus excavatum, Short sternum, Postaxial foot po...	ORPHA:2752
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Renal amyloi...	OMIM:105200
Senior-Loken Syndrome	Nephronophthisis, Retinal dystrophy, Abnormality of bone mineral density, Abnormality of retinal ...	ORPHA:3156
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Craniosynostosis, Micrognathia, Clinodactyly of the 5th finger, Umbilical hernia	ORPHA:1516
Osteopetrosis, Autosomal Recessive 2	Optic atrophy, Cranial hyperostosis, Osteopetrosis, Anemia, Pancytopenia, Diaphyseal sclerosis, R...	OMIM:259710
Gillessen-Kaesbach-Nishimura Syndrome	Narrow greater sciatic notch, Abnormal lung lobation, Congenital diaphragmatic hernia, Retrognath...	OMIM:263210
Xp22.13P22.2 Duplication Syndrome	Congenital diaphragmatic hernia, 2-3 toe syndactyly, Mandibular prognathia, Pectus excavatum, Umb...	ORPHA:284180
Atelosteogenesis Type Ii	Sandal gap, Tracheobronchomalacia, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shap...	ORPHA:56304
Cardiocranial Syndrome, Pfeiffer Type	Plantar flexion contracture, Temporomandibular joint ankylosis, Slender finger, Micrognathia, Cut...	ORPHA:2872
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Aarskog-Scott Syndrome	Clinodactyly of the 5th finger, Inguinal hernia, Delayed eruption of teeth, Finger syndactyly, Pe...	ORPHA:915
Stuve-Wiedemann Syndrome 2	Stillbirth, Short long bone, Bowing of the long bones, Camptodactyly, Death in adolescence, Neona...	OMIM:619751
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Neuropathy, Congenital Hypomyelinating, 3	Retrognathia, Respiratory insufficiency, 2-3 toe syndactyly, Bilateral talipes equinovarus, Hand ...	OMIM:618186
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Retrognathia, Radial deviat...	OMIM:227270
Hypophosphatasia	Abnormal metaphysis morphology, Emphysema, Narrow chest, Respiratory insufficiency, Bowing of the...	ORPHA:436
Combined Saposin Deficiency	Optic atrophy, Hepatomegaly, Splenomegaly	OMIM:611721
Multiple Epiphyseal Dysplasia Type 1	Genu valgum, Knee joint hypermobility, Arthralgia of the hip, Delayed epiphyseal ossification, Sh...	ORPHA:93308
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular...	OMIM:232200
Beta-Mercaptolactate Cysteine Disulfiduria	Genu valgum, Sandal gap, Micromelia, Arachnodactyly, Umbilical hernia, Joint hypermobility	ORPHA:1035
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density	OMIM:241520
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Frank-Ter Haar Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Inguinal hernia, Delayed eruption...	ORPHA:137834
Fibrodysplasia Ossificans Progressiva	Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Short hallux, Respirato...	OMIM:135100
Weaver Syndrome	Abnormal metaphysis morphology, Retrognathia, Sandal gap, Inguinal hernia, Finger syndactyly, Bro...	ORPHA:3447
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Chondrodysplasia With Joint Dislocations, Gpapp Type	Limited elbow extension, Capitate-hamate fusion, Genu valgum, Irregular epiphyses of the metacarp...	OMIM:614078
Progressive Familial Intrahepatic Cholestasis	Reduced bone mineral density, Jaundice, Hepatomegaly, Cholestasis, Splenomegaly	ORPHA:172
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Respiratory insufficiency, Respiratory failure, Death in infancy	OMIM:611722
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limited elbow extension, Pectus excavatum, Limb undergrowth, Thoracic hypoplasia, Bowing of the legs	ORPHA:156728
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ...	OMIM:607778
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Abnormality of the uterus, Renal dysplasia...	OMIM:617805
Platyspondylic Dysplasia, Torrance Type	Abnormal carpal morphology, Narrow chest, Metaphyseal cupping, Short thorax, Bowing of the long b...	ORPHA:85166
Paternal Uniparental Disomy Of Chromosome 1	Macular dystrophy, Enlarged kidney, Abnormal retinal morphology on macular OCT, Episodic hemolyti...	ORPHA:251004
Diaphanospondylodysostosis	Absent in utero rib ossification, Enlarged kidney, Abnormal liver lobulation, Tracheomalacia, Nep...	OMIM:608022
Surfactant Metabolism Dysfunction, Pulmonary, 1	Clubbing, Intraalveolar phospholipid accumulation, Death in infancy, Neonatal death, Interlobular...	OMIM:265120
Ophthalmomandibulomelic Dysplasia	Ulnar deviated club hands, Obtuse angle of mandible, Abnormality of bone mineral density, Temporo...	ORPHA:2741
Arthrogryposis Multiplex Congenita 6	Adducted thumb, Death in childhood, Death in infancy, Neonatal death, Respiratory failure, Arthro...	OMIM:619334
Acrocephalopolydactyly	Short long bone, Limb undergrowth, Thoracic hypoplasia, Brachydactyly	ORPHA:221054
Greenberg Dysplasia	Abnormal bone ossification, Rhizomelia, Narrow chest, Abnormal pelvis bone ossification, Anterior...	ORPHA:1426
Combined Oxidative Phosphorylation Deficiency 51	Intrauterine growth retardation, Respiratory failure, Neonatal respiratory distress, Aspiration p...	OMIM:619057
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Absent toe, Short ribs, Hypoplastic pelvis, Syndactyly, Umbilical hernia, 4-5 toe syndactyly, Mil...	OMIM:308050
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Carpenter Syndrome 1	Flared iliac wing, Duplication of the proximal phalanx of the hallux, Umbilical hernia, Genu varu...	OMIM:201000
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Osteoporosis, Biliary tract abnormality, Splenomegaly, Neonata...	ORPHA:79301
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Cone/cone-rod dystrophy, Splenomegaly, Retinal degeneration, Rod-cone dystrophy	OMIM:602271
Fibrochondrogenesis 2	Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Cup...	OMIM:614524
Metaphyseal Anadysplasia 2	Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg...	OMIM:613073
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Shoulder dislocation, Arachnodactyly, Umbilical hernia, Joint hypermobility, Adducted thumb	ORPHA:2181
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Generalized joint hypermobility, Ventral hernia, Hammertoe, Inguinal hernia, Cervical...	OMIM:618000
Congenital Muscular Dystrophy With Intellectual Disability	Abnormality of connective tissue, Respiratory insufficiency, Respiratory failure, Multiple joint ...	ORPHA:370968
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
Langer Mesomelic Dysplasia	Abnormal carpal morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bones, Micro...	ORPHA:2632
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Respiratory insufficiency, Short long bone, Bowing of the long bones, Mi...	OMIM:224410
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Osteogenesis Imperfecta, Type Xiii	Reduced bone mineral density, Limitation of knee mobility, Wide distal femoral metaphysis, Disloc...	OMIM:614856
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria	OMIM:230350
Progeroid Syndrome, Petty Type	Lipoatrophy, Wide anterior fontanel, Mandibular prognathia, Decreased skull ossification, Reduced...	ORPHA:2963
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Clinodactyly of the 5th finger, Missing ribs, Abnormal rib morphology, Arachnodactyly, Joint hype...	ORPHA:2759
Carpenter Syndrome	Polydactyly, Genu valgum, Craniosynostosis, Finger syndactyly, Postaxial hand polydactyly, Broad ...	ORPHA:65759
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Lower-limb metaphyseal irregularity, Enlarged metaphyses, Short long bone, Upper-limb metaphyseal...	OMIM:618728
Ceroid Lipofuscinosis, Neuronal, 10	Respiratory insufficiency, Respiratory failure, Neonatal death, Split hand	OMIM:610127
Spondylometaphyseal Dysplasia, A4 Type	Limitation of joint mobility, Micromelia, Coxa vara, Short palm, Flared, irregular rib ends	ORPHA:168555
Roifman-Chitayat Syndrome	Osteopenia, Short metatarsal, Arthritis, Short metacarpal, Umbilical hernia, Pneumonia, Cone-shap...	OMIM:613328
Melorheostosis	Increased bone mineral density, Arthritis, Hyperostosis, Joint stiffness, Ectopic ossification in...	ORPHA:2485
Osteogenesis Imperfecta, Type Ii	Absent ossification of calvaria, Bell-shaped thorax, Crumpled long bones, Respiratory insufficien...	OMIM:166210
Microphthalmia, Syndromic 12	Congenital diaphragmatic hernia, Retrognathia, Micrognathia, Neonatal death, Pulmonary hypoplasia	OMIM:615524
Atelosteogenesis, Type I	Tibial bowing, Clubbing, Short metacarpal, Short humerus, Thoracic hypoplasia, Fibular aplasia, S...	OMIM:108720
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Ehlers-Danlos Syndrome, Periodontal Type, 2	Joint hypermobility, Atypical scarring of skin, Inguinal hernia, Umbilical hernia	OMIM:617174
Sandhoff Disease	Splenomegaly, Hepatomegaly, Cherry red spot of the macula	ORPHA:796
Hyperparathyroidism, Transient Neonatal	Osteopenia, Enlarged kidney, Subperiosteal bone formation, Unilateral renal agenesis, Splenic cys...	OMIM:618188
Arthrogryposis, Distal, Type 1A	Rocker bottom foot, Retrognathia, Trismus, Elbow flexion contracture, Ulnar deviation of the hand...	OMIM:108120
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Retrognathia, Small epiphyses, Short long bone, Joint hypermobility, Adducted thumb, Advanced oss...	OMIM:620269
Ehlers-Danlos Syndrome, Classic Type, 1	Recurrent lower respiratory tract infections, Inguinal hernia, Hyperextensibility of the finger j...	OMIM:130000
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Retrognathia, Clinodactyly of the 5th finger, Carious teeth, Malar flattening, Brachydactyly, Joi...	ORPHA:1390
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Split hand, Abnormal rib morphology, Micromelia, Micrognathia, Malar flattenin...	ORPHA:2145
Osteopetrosis, Autosomal Recessive 3	Cranial hyperostosis, Osteopetrosis, Anemia, Optic nerve compression, Diaphyseal sclerosis, Hepat...	OMIM:259730
Thanatophoric Dysplasia, Type I	Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costochondral junctions...	OMIM:187600
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Retrognathia, Hypoplastic iliac wing, Tibial bowing, Short distal phalanx of finger, Intrauterine...	OMIM:210720
Vascular Malformation, Primary Intraosseous	Ectopic tooth eruption, Diastasis recti, Supraumbilical raphe, Umbilical hernia	OMIM:606893
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short ribs, Short long bone, Hypoplastic ischia, Dumbbell-shaped lo...	OMIM:228520
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:610539
Cutis Laxa-Marfanoid Syndrome	Congenital diaphragmatic hernia, Emphysema, Limitation of joint mobility, Arachnodactyly, Flexion...	ORPHA:171719
Radio-Renal Syndrome	Hypoplasia of the radius, Retrognathia, Chylothorax, Pleural effusion, Abnormal rib morphology, M...	ORPHA:3015
Nemaline Myopathy 8	Respiratory failure, Flexion contracture, Death in infancy	OMIM:615348
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Spontaneous neonatal pneumothorax, Recurrent mandibular subluxations, Inguinal hernia...	OMIM:225410
Sialidosis Type 2	Inguinal hernia, Short thorax, Pectus carinatum, Osteoporosis, Flexion contracture, Umbilical hernia	ORPHA:87876
Schinzel-Giedion Midface Retraction Syndrome	Long clavicles, Short 1st metacarpal, Wide distal femoral metaphysis, Talipes equinovarus, Tibial...	OMIM:269150
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Respiratory insufficiency, Respiratory failure, Limited knee flexion/extension, Limited elbow fle...	ORPHA:266
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Ascites, Craniosynostosis, Hepatic fibrosi...	OMIM:200995
Mucopolysaccharidosis Type 7	Diaphyseal undertubulation, Abnormal hip bone morphology, Inguinal hernia, Epiphyseal stippling, ...	ORPHA:584
Larsen-Like Syndrome, Lethal Type	Abnormal cartilage matrix, Tracheomalacia, Respiratory insufficiency, Neonatal death, Pulmonary h...	OMIM:245650
Coffin-Siris Syndrome 3	Central diaphragmatic hernia, Inguinal hernia, Joint hypermobility, Short distal phalanx of the 5...	OMIM:614608
Short Stature, Brussels Type	Narrow chest, Calcification of cartilage, Microretrognathia, Delayed epiphyseal ossification	ORPHA:2867
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Femoral bowing, Bowing of the long bones, Generalized osteoporosis, Micrognathia, Umbi...	OMIM:617952
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Retrognathia, Sandal gap, Joint contracture of the 5th finger, Inguinal hernia, 2-3 toe syndactyl...	OMIM:618914
Achondrogenesis, Type Ia	Hypoplastic sacrum, Broad clavicles, Abnormal hand bone ossification, Short ribs, Decreased skull...	OMIM:200600
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Abnormal cartilage matrix, Narrow chest, Flared metaphysis, Wide ant...	ORPHA:2347
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Osteopetrosis, Hepatomegaly, Splenomegaly	OMIM:618541
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Idiopathic Congenital Hypothyroidism	Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Umbilical hernia	ORPHA:95717
Kagami-Ogata Syndrome	Retrognathia, Long clavicles, Bell-shaped thorax, Inguinal hernia, Thin ribs, Diastasis recti, Om...	OMIM:608149
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory insufficiency, Clubbing, Intraalveolar phospholipid accumulation, Nonspecific interst...	OMIM:610913
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Clubbing of fingers,...	ORPHA:2302
H Syndrome	Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Azoospermia, Recurrent fractures, Ca...	ORPHA:168569
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Severe Congenital Nemaline Myopathy	Adducted thumb, Thin ribs, Multiple prenatal fractures, Pulmonary hypoplasia, Increased connectiv...	ORPHA:171430
Thoracic Dysplasia-Hydrocephalus Syndrome	Abnormal metaphysis morphology, Respiratory failure, Limb undergrowth, Narrow chest	ORPHA:1861
Diastrophic Dysplasia	Short finger, Genu valgum, Irregular epiphyses, Hitchhiker thumb, Short long bone, Hip contractur...	OMIM:222600
Mosaic Variegated Aneuploidy Syndrome 1	Intrauterine growth retardation, Short sternum, Micrognathia, Malar flattening	OMIM:257300
Rhizomelic Chondrodysplasia Punctata	Abnormal metaphysis morphology, Rhizomelia, Spina bifida occulta, Epiphyseal stippling, Limitatio...	ORPHA:177
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomeg...	OMIM:607616
Osteopetrosis, Autosomal Dominant 1	Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteoscleros...	OMIM:607634
Laron Syndrome	Short long bone, Limb undergrowth	OMIM:262500
Pontocerebellar Hypoplasia, Type 4	Respiratory failure, Congenital contracture, Death in infancy	OMIM:225753
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Angioid streaks of the fundus, Hypercalciuria, Increased bone mineral density, Increa...	OMIM:239000
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Flared metaphysis, Short ribs, Pleural effusion, Decreased skull ossification, Decrea...	OMIM:616897
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
Short-Rib Thoracic Dysplasia 12	Anencephaly, Short long bone, Short ribs, Intrauterine growth retardation, Short finger, Inguinal...	OMIM:269860
Pallister-Hall-Like Syndrome	Occipital encephalocele, Short ribs, Postaxial hand polydactyly, Micromelia, Death in infancy, Mi...	OMIM:241800
Spondyloepiphyseal Dysplasia, Kimberley Type	Abnormal epiphysis morphology, Osteoarthritis, Short thorax, Micromelia	ORPHA:93283
Thanatophoric Dysplasia	Abnormal metaphysis morphology, Abnormal ilium morphology, Narrow chest, Joint hypermobility, Res...	ORPHA:2655
Weaver Syndrome	Retrognathia, Radial deviation of finger, Hypoplastic iliac wing, Short ribs, Prominent fingertip...	OMIM:277590
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Congenital diaphragmatic hernia, Short greater sciatic notch, Pectu...	OMIM:312870
Autosomal Recessive Multiple Pterygium Syndrome	Spina bifida occulta, Inguinal hernia, Finger syndactyly, Abnormal sternum morphology, Aplasia/Hy...	ORPHA:2990
Joint Laxity, Short Stature, And Myopia	Inguinal hernia, Pectus carinatum, Umbilical hernia, Joint hypermobility, Talipes equinovarus	OMIM:617662
Shprintzen-Goldberg Craniosynostosis Syndrome	Dislocated radial head, Pectus carinatum, Pectus excavatum, Arachnodactyly, Umbilical hernia, Joi...	OMIM:182212
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Glo...	OMIM:276700
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Thin ribs, Hypoplasia ...	OMIM:300863
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Joint contracture, Flexion contracture, Splenomegaly, Hypogonadism	OMIM:608540
Cantu Syndrome	Narrow chest, Short hallux, Osteoporosis, Metaphyseal widening, Broad hallux, Erlenmeyer flask de...	OMIM:239850
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u...	ORPHA:1046
Ollier Disease	Abnormal metaphysis morphology, Micromelia, Joint stiffness, Abnormal cartilage morphology, Multi...	ORPHA:296
Osteogenesis Imperfecta, Type X	Tibial bowing, Thoracic hypoplasia, Dentinogenesis imperfecta, Joint hypermobility, Broad ribs, F...	OMIM:613848
Ruvalcaba Syndrome	Limited elbow extension, Short metatarsal, Narrow chest, Inguinal hernia, Short metacarpal, Micro...	OMIM:180870
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Inguinal hernia, Umbilical hernia	ORPHA:1373
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Proteinuria, Splenomegaly	OMIM:620010
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Retrognathia, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac ...	ORPHA:96334
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Narrow chest, Femoral bowing, Dumbbell-shaped long bone, Micromelia, Micrognathia, Me...	ORPHA:440354
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Respiratory failure, Aspiration pneumonia	ORPHA:90117
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Hypoplastic iliac wing, Pectus carinatum, Flared iliac wing, Joint stiffness...	OMIM:253200
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Multiple prenatal fractures, Pulmonary hypoplasia, Flexion contracture, Respiratory failure, Neon...	OMIM:616867
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly	OMIM:614480
Hypochondroplasia	Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal pelvic girdle bone morphology...	ORPHA:429
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Tracheobronchomalacia, Recurrent pneumonia, Umbilical hernia, Joint hypermobility, Short 5th fing...	ORPHA:500159
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl...	ORPHA:2098
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Mucolipidosis Ii Alpha/Beta	Short long bone, Flat acetabular roof, Pectus excavatum, Flared iliac wing, Bullet-shaped phalang...	OMIM:252500
Chromosome 6Q11-Q14 Deletion Syndrome	Inguinal hernia, Micrognathia, Umbilical hernia, Joint hypermobility, Talipes equinovarus	OMIM:613544
Isolated Splenogonadal Fusion	Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt...	ORPHA:457083
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
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Fibular Hemimelia	Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog...	ORPHA:93323
Hereditary Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Achondroplasia	Narrow greater sciatic notch, Limited elbow extension, Short proximal phalanx of finger, Rhizomel...	ORPHA:15
Dyggve-Melchior-Clausen Disease	Abnormal hip bone morphology, Abnormal femoral head morphology, Pectus carinatum, Short long bone...	ORPHA:239
Farber Lipogranulomatosis	Lipogranulomatosis, Hepatomegaly, Limitation of knee mobility, Osteolytic defects of the phalange...	OMIM:228000
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Smith-Kingsmore Syndrome	Short proximal phalanx of finger, Rhizomelia, Wide anterior fontanel, Diastasis recti, Thoracic h...	OMIM:616638
Endove Syndrome, Limb-Only Type	Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ...	OMIM:619217
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Retrognathia, Clinodactyly of the 5th finger, Sandal gap, Spina ...	OMIM:135900
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Reduced bone mineral density, Abnormality of the lymphatic sys...	ORPHA:1414
Ophthalmomandibulomelic Dysplasia	Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Temporomandibu...	OMIM:164900
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Cortical thickening of long bone diaphyses	OMIM:166740
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal thumb morphology, Tarsal synostosis, Abnormal tibia morphology, Abnormal hip bone morpho...	ORPHA:2639
Legg-Calvé-Perthes Disease	Cartilage destruction	ORPHA:2380
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Anemia, Splenomegaly, Recurrent fractures	OMIM:618107
Astley-Kendall Dysplasia	Micromelia, Epiphyseal stippling	ORPHA:85175
Intermediate Nemaline Myopathy	Multiple prenatal fractures, Flexion contracture, Respiratory failure, Arthrogryposis multiplex c...	ORPHA:171433
Verloove Vanhorick-Brubakk Syndrome	Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ...	ORPHA:3429
Intellectual Developmental Disorder, Autosomal Recessive 41	Retrognathia, Clinodactyly of the 5th finger, Mandibular prognathia, Prominent fingertip pads, Re...	OMIM:615637
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Retrognathia, Death in childhood, Emphysema, Atelectasis, Sandal gap, Inguinal hernia...	OMIM:613177
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Joint contracture of the hand, Retrognathia, Spina bifida occulta, Delayed eruption of teeth, Con...	OMIM:235510
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Rocker bottom foot, Retrognathia, Arthrogryposis multiplex congenita	OMIM:619072
Joubert Syndrome 18	Occipital encephalocele, Retrognathia, Bowing of the long bones, Camptodactyly, Postaxial polydac...	OMIM:614815
Mucopolysaccharidosis, Type Vii	Narrow greater sciatic notch, Genu valgum, Thoracolumbar kyphosis, Spatulate ribs, Pectus carinat...	OMIM:253220
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Retrognathia, Death in infancy, Camptodactyly of finger, Flexion contracture, Intrauterine growth...	ORPHA:1194
Pseudoachondroplasia	Short long bone, Short metacarpal, Metaphyseal irregularity, Short distal phalanx of finger, Join...	OMIM:177170
Shprintzen-Goldberg Syndrome	Abnormal metaphysis morphology, Retrognathia, Osteopenia, Genu valgum, Narrow chest, Inguinal her...	ORPHA:2462
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Joint stiffness, Sprengel anomaly, Brachydactyly, Joint hypermobility, ...	ORPHA:40
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory failure, Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneum...	ORPHA:2590
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Developmental And Epileptic Encephalopathy 71	Respiratory insufficiency, Respiratory failure	OMIM:618328
Fibrochondrogenesis	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ...	ORPHA:2021
Hypochondroplasia	Limited elbow extension, Flared metaphysis, Short long bone, Aplasia/hypoplasia of the extremitie...	OMIM:146000
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Femoral bowing, Short ribs, Short metacarpal, Tibial bowing, Pectus excavatum...	OMIM:304120
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Pectus carinatum, Triangular shaped distal phalanges of the hand, Short long bone, Short ribs, Sh...	OMIM:271665
Albers-Schönberg Osteopetrosis	Optic atrophy, Anemia, Abnormal leukocyte morphology, Arthritis, Recurrent fractures, Osteoarthri...	ORPHA:53
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli...	ORPHA:240
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Intellectual Disability, Buenos-Aires Type	Reduced bone mineral density, Clinodactyly of the 5th finger, Pectus carinatum, Mandibular progna...	ORPHA:3079
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Brachydactyly, Type B1	Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplasti...	OMIM:113000
Multiple Mitochondrial Dysfunctions Syndrome 3	Retrognathia, Respiratory insufficiency, Intrauterine growth retardation, Respiratory failure, Ar...	OMIM:615330
Rubinstein-Taybi Syndrome 2	Short 5th toe, Retrognathia, Short first metatarsal, Prominent fingertip pads, Talon cusp, Broad ...	OMIM:613684
Hyperoxaluria, Primary, Type I	Optic atrophy, Hematuria, Choroidal neovascularization, Calcium oxalate nephrolithiasis, Increase...	OMIM:259900
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Narrow greater sciatic notch, Narrow chest, Encephalocele, Short ribs, Short long bone, Bowing of...	OMIM:224400
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Sandestig-Stefanova Syndrome	Rocker bottom foot, Retrognathia, Camptodactyly, Intrauterine growth retardation, Respiratory fai...	OMIM:618804
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Respiratory insufficiency, Respiratory failure, Death in infancy	OMIM:613869
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
Peho-Like Syndrome	Retrognathia, Tapered finger	OMIM:617507
Multiple Pterygium Syndrome, Escobar Variant	Rocker bottom foot, Congenital diaphragmatic hernia, Dislocated radial head, Arachnodactyly, Synd...	OMIM:265000
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Abnormality of the pulmonary vasculature, Short ribs, Hypoplasti...	ORPHA:2092
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory insufficienc...	ORPHA:254875
Arthrogryposis Multiplex Congenita 5	Rocker bottom foot, Limitation of knee mobility, 11 pairs of ribs, Hammertoe, Inguinal hernia, El...	OMIM:618947
Cutis Laxa, Autosomal Recessive, Type Iiia	Inguinal hernia, Joint hypermobility, Pectus excavatum, Congenital hip dislocation, Umbilical her...	OMIM:219150
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia	OMIM:614979
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Ureteral duplication, Long-chain...	OMIM:608836
Ck Syndrome	Retrognathia, Abnormal digit morphology, Micrognathia, Malar flattening, Joint hypermobility	OMIM:300831
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Brachyolmia Type 1, Hobaek Type	Short iliac bones, Osteopenia, Flattened proximal radial epiphyses, Pectus carinatum, Short long ...	OMIM:271530
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Ambiguous genitalia, Cryptorchidism, Thrombocytopenia	ORPHA:1237
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Congenital diaphragmatic hernia, Retrognathia, Bowed humerus, Short clavicles, Elbow flexion cont...	OMIM:618022
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute...	OMIM:277000
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Congenital diaphragmatic hernia, Arachnodactyly, Emphysema, Hip dislocation	OMIM:614100
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Abnormal bone ossification, Retinal detachment, Increased bone mineral density, Delayed patellar ...	ORPHA:163649
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Anemia, Myelofibrosis, Thrombocytopenia, Splenomegaly	OMIM:617441
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in childhood, Wide distal femoral metaphysis, Bell-shaped thorax, Delayed epiphyseal ossifi...	OMIM:613320
Acromicric Dysplasia	Short long bone, Short metacarpal, Short foot, Short palm, Short phalanx of finger, Fifth metacar...	OMIM:102370
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra...	OMIM:112910
Endove Syndrome, Limb-Brain Type	Aplasia of the 3rd finger, Talar aplasia, Triangular tibia, Umbilical hernia, Joint hypermobility...	OMIM:619218
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intr...	ORPHA:731
Mesomelic Dysplasia, Kantaputra Type	Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Dumbbell-shaped hu...	ORPHA:1836
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Cranial hyperostosis, Osteopetrosis, Hepatomegaly, Anemia, Hypochromic microcytic ...	OMIM:259720
Cog7-Cdg	Retrognathia, Abnormal finger morphology, Long fingers, Micrognathia, Adducted thumb	ORPHA:79333
Microcephaly-Micromelia Syndrome	Narrow chest, Oligodactyly, Missing ribs, Forearm undergrowth, Humeroradial synostosis, Micromeli...	OMIM:251230
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Amyotrophic Lateral Sclerosis 28	Respiratory failure	OMIM:620452
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R...	OMIM:249700
Congenital Myopathy 21 With Early Respiratory Failure	Intrauterine growth retardation, Respiratory failure, Lipoid pneumonia, Inguinal hernia	OMIM:620326
Infant Acute Respiratory Distress Syndrome	Pulmonary edema, Atelectasis, Respiratory tract infection, Pneumonia, Respiratory failure, Abnorm...	ORPHA:70587
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Retrognathia, Slender long bone, Thin ribs, Decreased calvarial ossification, Micrognathia, Brach...	OMIM:618265
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Atelosteogenesis Type I	Abnormal fibula morphology, Absent or minimally ossified vertebral bodies, Rhizomelia, Narrow che...	ORPHA:1190
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism, Hepatic fibrosis	OMIM:613313
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Retrognathia, Clinodactyly of the 5th finger, Oligodactyly, Umbilical hernia, Recurrent respirato...	OMIM:619758
Lymphatic Malformation 8	Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis	OMIM:618773
Otospondylomegaepiphyseal Dysplasia	Flared femoral metaphysis, Fibular bowing, Abnormal long bone morphology, Sandal gap, Abnormal il...	ORPHA:1427
X-Linked Ehlers-Danlos Syndrome	Joint hypermobility, Hernia, Inguinal hernia, Umbilical hernia	ORPHA:75497
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Myopathy, Centronuclear, 5	Respiratory insufficiency, Retrognathia, Hip contracture, Micrognathia	OMIM:615959
Beta-Thalassemia	Hepatomegaly, Anemia, Reduced bone mineral density, Cholelithiasis, Thrombocytopenia, Splenomegal...	ORPHA:848
Spondyloepimetaphyseal Dysplasia, Shohat Type	Narrow greater sciatic notch, Bell-shaped thorax, Flared metaphysis, Delayed epiphyseal ossificat...	OMIM:602557
Turner Syndrome Due To Structural X Chromosome Anomalies	Retrognathia, Reduced bone mineral density, Enlarged thorax, Pectus excavatum, Abnormal forearm b...	ORPHA:99413
Mosaic Monosomy X	Retrognathia, Reduced bone mineral density, Enlarged thorax, Pectus excavatum, Abnormal forearm b...	ORPHA:99228
Monosomy X	Retrognathia, Reduced bone mineral density, Enlarged thorax, Pectus excavatum, Abnormal forearm b...	ORPHA:99226
Turner Syndrome	Retrognathia, Reduced bone mineral density, Enlarged thorax, Pectus excavatum, Abnormal forearm b...	ORPHA:881
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Retrognathia, Death in childhood, Brachydactyly, Umbilical hernia, Intrauterine growth retardatio...	OMIM:612938
Pelger-Huet Anomaly	Polydactyly, Short 4th metacarpal, Upper limb undergrowth, Short 3rd metacarpal, Umbilical hernia...	OMIM:169400
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hematuria, Chronic kidney disease, Unilateral renal dysplasia, Aplasia of the vagina, Aplasia of ...	OMIM:146255
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
3M Syndrome	Rocker bottom foot, Hypoplasia of the ulna, Abnormal metaphysis morphology, Clinodactyly of the 5...	ORPHA:2616
Poland Syndrome	Congenital diaphragmatic hernia, Reduced bone mineral density, Asymmetry of the thorax, Abnormal ...	ORPHA:2911
Mucopolysaccharidosis, Type Iiia	Dense calvaria, Inguinal hernia, Joint stiffness, Umbilical hernia, Thickened ribs, Recurrent upp...	OMIM:252900
Primary Ciliary Dyskinesia	Atelectasis, Pulmonary situs ambiguus, Peribronchovascular interstitial thickening, Clubbing, Res...	ORPHA:244
Osteogenesis Imperfecta	Abnormal femur morphology, Reduced bone mineral density, Abnormal hip bone morphology, Dislocated...	ORPHA:666
Thanatophoric Dysplasia Type 1	Abnormal metaphysis morphology, Narrow chest, Short greater sciatic notch, Respiratory insufficie...	ORPHA:1860
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Arthritis, Splenomegaly, Hypogonadotropic hypogonadism	OMIM:602390
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Osteoporosis, Mastocytos...	ORPHA:98848
Dermatosparaxis Ehlers-Danlos Syndrome	Rickets, Scarring, Retrognathia, Osteopenia, Inguinal hernia, Hiatus hernia, Osteomalacia, Femora...	ORPHA:1901
Spinocerebellar Ataxia, Autosomal Recessive 31	Retrognathia, Death in childhood, Clinodactyly of the 5th finger, Pectus excavatum	OMIM:619422
Idiopathic Bronchiectasis	Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Clubbing, Re...	ORPHA:60033
Hemihyperplasia-Multiple Lipomatosis Syndrome	Enlarged kidney, Abnormality of the lymphatic system, Nephroblastoma, Ovarian serous cystadenoma,...	ORPHA:276280
Thanatophoric Dysplasia Type 2	Abnormal metaphysis morphology, Narrow chest, Encephalocele, Respiratory insufficiency, Short tho...	ORPHA:93274
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Enlarged kidney, Anemia, Nephrotic syndrome, Bone marrow hypocellularity, Joint st...	ORPHA:505248
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Anemia, Enlarged kidney, Increase...	ORPHA:79259
Ciliary Dyskinesia, Primary, 5	Respiratory insufficiency due to defective ciliary clearance, Recurrent respiratory infections, R...	OMIM:608647
Cutis Laxa, Autosomal Recessive, Type Ia	Congenital diaphragmatic hernia, Emphysema, Inguinal hernia, Pectus excavatum, Arachnodactyly, Um...	OMIM:219100
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Reduced bone mineral density, Recurrent urinary tract infections, Joint stiffness, ...	OMIM:620210
Schwartz-Jampel Syndrome	Flexion contracture of toe, Pectus carinatum, Pectus excavatum, Wrist flexion contracture, Death ...	ORPHA:800
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Tetraamelia, Umbilical hernia	OMIM:273390
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Short finger, Irregular epiphyses, Rhizomelia, Barrel-shaped chest, Mandibular prognathia, Broad ...	OMIM:612813
Robinow Syndrome, Autosomal Recessive 1	Retrognathia, Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocate...	OMIM:268310
Vacterl Association With Hydrocephalus	Stillbirth, Radial club hand, Respiratory insufficiency, Absent thumb, Respiratory failure	OMIM:276950
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Retrognathia, Thoracic kyphosis, Pectus excavatum, Arachnodactyly, Syndactyly, Clinodactyly	OMIM:619092
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in childhood, Respiratory insufficiency, Death in infancy, Neonatal death, Intrauterine gro...	OMIM:245400
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Abnormal femoral epiphysis morphology, Inguinal hernia, Short thorax, Brachydactyly, Umbilical he...	ORPHA:3218
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Jaundice, Hepatomegaly, Anemia of inadequate production, Calvarial hyperostosis, Exoc...	OMIM:612714
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly	ORPHA:100025
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Restricted large joint movement, Small epiphyses, Flared metaphysis, Hypoplastic pubic bone, Dela...	ORPHA:93346
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Short ribs, Flat acetabular roof, Short long bone, Hypoplastic pelv...	OMIM:616300
12Q14 Microdeletion Syndrome	Ectopic kidney, Osteopoikilosis, Renal hypoplasia, Abnormality of the spleen, Horseshoe kidney	ORPHA:94063
Distal Deletion 17Q	Abnormal thumb morphology, Abnormal hip bone morphology, Abnormal metacarpal morphology, Aplasia/...	ORPHA:1597
Congenital Neuronal Ceroid Lipofuscinosis	Respiratory failure, Neonatal respiratory distress, Split hand	ORPHA:168486
Joubert Syndrome 33	Cone/cone-rod dystrophy, Splenomegaly	OMIM:617767
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Genu valgum, Mandibular prognathia, Umbilical hernia, Joint hypermobility, Hypoplasia of the zygo...	ORPHA:1778
Orofaciodigital Syndrome Type 10	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Retrognathia,...	ORPHA:2756
Glycine Encephalopathy With Normal Serum Glycine	Retrognathia, Elbow flexion contracture, Hip contracture, Hand clenching, Flexion contracture, Jo...	OMIM:617301
Hypothyroidism, Congenital, Nongoitrous, 4	Umbilical hernia, Wide anterior fontanel, Omphalocele	OMIM:275100
Gaucher Disease Type 2	Flexion contracture, Hepatomegaly, Splenomegaly	ORPHA:77260
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra...	ORPHA:85170
Gracile Bone Dysplasia	Ascites, Decreased skull ossification, Asplenia, Hypoplastic spleen, Micropenis	OMIM:602361
Femur-Fibula-Ulna Complex	Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh...	ORPHA:2019
Ruvalcaba Syndrome	Clinodactyly of the 5th finger, Proximal placement of thumb, Narrow chest, Inguinal hernia, Abnor...	ORPHA:3121
Multiple Osteochondromas	Abnormal femur morphology, Cervical myelopathy, Limitation of knee mobility, Abnormal lower limb ...	ORPHA:321
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Visceromegaly, Sclerosis of hand bone, Ascites, Polycythemia, Papi...	ORPHA:2905
Spondyloepiphyseal Dysplasia Tarda	Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyses, Abnormally os...	ORPHA:93284
Becker Nevus Syndrome	Lipoatrophy, Abnormal tibia morphology, Spina bifida occulta, Pectus carinatum, Pectus excavatum,...	ORPHA:64755
Robinow Syndrome, Autosomal Dominant 2	Partial duplication of the phalanx of hand, Calvarial osteosclerosis, Camptodactyly, Broad thumb,...	OMIM:616331
Autosomal Recessive Omodysplasia	Abnormal metaphysis morphology, Abnormal femur morphology, Rhizomelia, Micromelia, Micrognathia, ...	ORPHA:93329
Lymphatic Malformation 14	Lymphedema	OMIM:620602
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Lymphatic Malformation 2	Lymphedema	OMIM:611944
Hurler-Scheie Syndrome	Inguinal hernia, Joint stiffness, Camptodactyly of finger, Micrognathia, Umbilical hernia, Contra...	OMIM:607015
Pfapa Syndrome	Arthritis, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Meacham Syndrome	Blind vagina, Enlarged kidney, Accessory spleen, Bicornuate uterus, Male pseudohermaphroditism, S...	OMIM:608978
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Rhizomelia, Narrow chest, Angulated humerus, Recurrent fractures, Short long bone, Bo...	OMIM:616229
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Osteopenia, Retrognathia, Short clavicles, Recurrent shoulder dislocation, Finger joint contractu...	OMIM:212112
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Retinopathy, Thrombocytopenia,...	ORPHA:158029
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wide anterior fontanel, Bilateral talipes equinovarus, Mesomelia, Limb undergrowth, Shortening of...	OMIM:601356
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Blomstrand Lethal Chondrodysplasia	Rhizomelia, Narrow chest, Flared metaphysis, Metaphyseal cupping, Broad clavicles, Short thorax, ...	ORPHA:50945
Gapo Syndrome	Abnormal metaphysis morphology, Abnormal clavicle morphology, Asymmetry of the thorax, Delayed er...	ORPHA:2067
Terminal Osseous Dysplasia	Mesomelic arm shortening, Abnormal hand bone ossification, Camptodactyly of toe, Camptodactyly of...	OMIM:300244
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Clinodactyly of the 5th finger, Inguinal hernia, Pectus excavatum, Slender finger, Broad thumb, U...	ORPHA:329224
Igg4-Related Kidney Disease	Enlarged kidney, Sclerosing cholangitis, Cholecystitis, Urinary bladder inflammation, Acute kidne...	ORPHA:449395
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ...	OMIM:620663
Microcephaly 8, Primary, Autosomal Recessive	Retrognathia	OMIM:614673
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Camptodactyly, Umbilical hernia, Syndactyly, Arthrogryposis-like hand anom...	ORPHA:369891
Nephronophthisis 9	Polyuria, Nephronophthisis, Anemia, Renal cortical microcysts, Retinal degeneration, Stage 5 chro...	OMIM:613824
Rin2 Syndrome	Abnormal sternum morphology, Brachydactyly, Umbilical hernia, Joint hypermobility, Increased susc...	ORPHA:217335
2Q37 Microdeletion Syndrome	Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Tracheomalacia, Finger syndactyl...	ORPHA:1001
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Acces Syndrome	Retrognathia, Clinodactyly of the 5th finger, Ectrodactyly, Split foot, Hip dysplasia, Recurrent ...	OMIM:619959
Achondrogenesis, Type Ii	Short tubular bones of the hand, Stillbirth, Barrel-shaped chest, Hypoplastic iliac wing, Short r...	OMIM:200610
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Chromosome 6Pter-P24 Deletion Syndrome	Rocker bottom foot, Clinodactyly of the 5th finger, Broad toe, Short 2nd toe, Pectus excavatum, U...	OMIM:612582
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Absent ossification of capital femoral epiphysis, Umbilical hernia, Abnormal epiphysis morphology...	ORPHA:226313
Myotubular Myopathy With Abnormal Genital Development	Retrognathia, Atelectasis, Thin ribs, Death in infancy, Neonatal death, Joint hypermobility	OMIM:300219
Beta-Thalassemia Intermedia	Reduced bone mineral density, Proximal tubulopathy, Anemia of inadequate production, Splenomegaly...	ORPHA:231222
Acrodysostosis	Abnormal femur morphology, Short metacarpal, Cone-shaped epiphysis, Coxa valga, Genu varum, Hypop...	ORPHA:950
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Carpal bone hypoplasia, Genu valgum, Metaphyseal cupping, Narrow iliac wing, Short long bone, Sho...	OMIM:250420
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Splenomegaly, Card...	OMIM:269920
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Micromelia, Metatarsus adductus, Broad thumb, J...	ORPHA:2249
Hurler Syndrome	Diaphyseal undertubulation, Inguinal hernia, Short clavicles, Flared iliac wing, Hypoplasia of th...	OMIM:607014
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
Meier-Gorlin Syndrome 1	Absent sternal ossification, Pectus carinatum, Short ribs, Death in infancy, Intrauterine growth ...	OMIM:224690
Osteoglophonic Dysplasia	Eruption failure, Short metacarpal, Broad metatarsal, Pectus excavatum, Broad thumb, Craniosynost...	OMIM:166250
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:79128
Mitochondrial Complex I Deficiency, Nuclear Type 18	Respiratory failure, Wide anterior fontanel, Death in infancy	OMIM:618240
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
6Q16 Microdeletion Syndrome	Retrognathia, Micrognathia, Tapered finger, Abnormal thorax morphology	ORPHA:171829
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol...	OMIM:130650
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Rhizomelia, Narrow chest, Wide anterior fontanel, Tibial bowing, Femoral bowing, Mesomelia, Neona...	OMIM:616482
Mesomelic Dysplasia, Nievergelt Type	Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Clinodactyly of the 5th...	ORPHA:2633
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Clubbing, Respiratory tract infection, B...	ORPHA:79127
Trichothiodystrophy 6, Nonphotosensitive	Increased bone mineral density, Coronal craniosynostosis, Increased HbA2 hemoglobin, Decreased me...	OMIM:616943
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
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,...	OMIM:127300
Intellectual Developmental Disorder With Or Without Peripheral Neuropathy	Retrognathia	OMIM:619844
Geleophysic Dysplasia 3	Limited elbow movement, Epiphyseal dysplasia, Limb undergrowth, Brachydactyly, Limited wrist move...	OMIM:617809
Schaaf-Yang Syndrome	Rocker bottom foot, Retrognathia, Mandibular prognathia, Tapered finger, Short foot, Camptodactyl...	OMIM:615547
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Death in childhood, Inguinal hernia, Micrognathia, Flexion contr...	OMIM:618651
Cantú Syndrome	Abnormal metaphysis morphology, Narrow chest, Short hallux, Finger syndactyly, Osteoporosis, Umbi...	ORPHA:1517
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
ERI1-related disease	Osteopenia, Limited elbow extension, Clinodactyly of the 5th finger, Narrow chest, Inguinal herni...	OMIM:608739
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Large placenta, Diastasis recti, Omphalocele, Coat hanger sign of ribs, Thoracic hypoplasia, Umbi...	ORPHA:254534
Cornelia De Lange Syndrome 5	Limited elbow extension, Retrognathia, Clinodactyly of the 5th finger, Proximal placement of thum...	OMIM:300882
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Mandibular prognathia, Micromelia	ORPHA:2252
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Neuraminidase Deficiency	Hepatomegaly, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Urin...	OMIM:256550
Meier-Gorlin Syndrome 6	Emphysema, Sandal gap, Tracheobronchomalacia, Umbilical hernia, Short middle phalanx of finger, P...	OMIM:616835
Interstitial Pneumonitis, Desquamative, Familial	Respiratory failure, Recurrent upper respiratory tract infections, Desquamative interstitial pneu...	OMIM:263000
Hypophosphatasia, Infantile	Stillbirth, Unossified vertebral bodies, Metaphyseal cupping, Short ribs, Micromelia, Death in in...	OMIM:241500
Arterial Tortuosity Syndrome	Congenital diaphragmatic hernia, Inguinal hernia, Pectus carinatum, Pectus excavatum, Pulmonary a...	OMIM:208050
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo...	OMIM:201250
Acute Interstitial Pneumonia	Atelectasis, Peribronchovascular interstitial thickening, Pleural effusion, Bronchiectasis, Inter...	ORPHA:79126
Intellectual Developmental Disorder, Autosomal Dominant 48	Tracheobronchomalacia, Recurrent pneumonia, Umbilical hernia, Intrauterine growth retardation, Jo...	OMIM:617751
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin...	OMIM:618892
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Generalized joint hypermobility, Hip subluxation, Inguinal hernia, Congenital bilater...	ORPHA:1900
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ...	OMIM:211600
Luo-Schoch-Yamamoto Syndrome	Intrauterine growth retardation, Umbilical hernia, Short foot, Small hand	OMIM:619460
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Abnormal pelvic girdle bone morphology, Micromelia, Camptodactyly of finger, Brachydactyly, Ulnar...	ORPHA:2928
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Salmonella osteomyelitis, Leukocytosis, Hepatosplenomega...	OMIM:209950
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Clinodactyly of the 5th finger, Inguinal hernia, Short distal phalanx of toe, Symphalangism affec...	ORPHA:1292
Scedosporiosis	Pleuritis, Bronchitis, Pleural empyema, Sinusitis, Arthralgia/arthritis, Septic arthritis, Pulmon...	ORPHA:449280
Myasthenic Syndrome, Congenital, 19	Retrognathia, Barrel-shaped chest, Recurrent lower respiratory tract infections, Respiratory insu...	OMIM:616720
Autosomal Recessive Robinow Syndrome	Abnormal hip bone morphology, Sandal gap, Pectus carinatum, Pectus excavatum, Death in infancy, B...	ORPHA:1507
Microcephaly, Short Stature, And Limb Abnormalities	Hypoplasia of the radius, Clinodactyly of the 5th finger, 11 pairs of ribs, Patellar hypoplasia, ...	OMIM:617604
Endosteal Hyperostosis, Autosomal Dominant	Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Metatarsal diaphys...	OMIM:144750
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Pectus carinatum, Fractures of the long bones...	ORPHA:496641
Bronchopulmonary Dysplasia	Respiratory failure requiring assisted ventilation, Emphysema, Atelectasis, Tracheobronchomalacia...	ORPHA:70589
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Respiratory failure, Death in infancy	OMIM:616277
Proximal Spinal Muscular Atrophy	Multiple joint contractures, Thoracic kyphosis, Elbow flexion contracture, Respiratory insufficie...	ORPHA:70
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Short long bone, Femoral bowing, Thoracic hypoplasia, Metaphyseal irregularity, Joint hypermobili...	OMIM:618019
Mulchandani-Bhoj-Conlin Syndrome	Intrauterine growth retardation, Retrognathia, 2-3 toe syndactyly, Clinodactyly	OMIM:617352
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
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
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Spondyloepimetaphyseal Dysplasia, Shohat Type	Fibular overgrowth, Generalized bone demineralization, Flared metaphysis, Delayed epiphyseal ossi...	ORPHA:93352
Desbuquois Dysplasia 2	Pectus carinatum, Short long bone, Flat acetabular roof, Short metacarpal, Pectus excavatum, Broa...	OMIM:615777
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis	OMIM:619658
Foxp1 Syndrome	Retrognathia, Mandibular prognathia, Prominent fingertip pads, Flexion contracture, Recurrent upp...	ORPHA:391372
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Retrognathia, Inguinal hernia, Tracheomalacia, Pectus carinatum, Umbilical hernia, Hypoplasia of ...	OMIM:620654
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Ventral hernia, Hammertoe, Sandal gap, Inguinal hernia, Hallux valgus, Shoulder dislo...	ORPHA:536532
Macs Syndrome	Pectus excavatum, Osteoporosis, Micrognathia, Brachydactyly, Umbilical hernia, Bronchiectasis, Jo...	OMIM:613075
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Glutamine Deficiency, Congenital	Recurrent respiratory infections, Camptodactyly, Micromelia, Neonatal death, Flexion contracture,...	OMIM:610015
Amme Complex	Sandal gap, Inguinal hernia, Joint hypermobility, Prominent fingertip pads, Diastasis recti, Umbi...	OMIM:300194
Primary Hyperoxaluria	Optic atrophy, Hematuria, Choroidal neovascularization, Aciduria, Calcium oxalate nephrolithiasis...	ORPHA:416
Meier-Gorlin Syndrome 4	Lateral clavicle hook, Emphysema, Slender long bone, Hypoplasia of the maxilla, Micrognathia, Pat...	OMIM:613804
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Rocker bottom foot, Retrognathia, Death in childhood, Camptodactyly, Micrognathia, Flexion contra...	OMIM:604273
Crisponi/Cold-Induced Sweating Syndrome 1	Limited elbow extension, Retrognathia, Radial deviation of finger, Elbow flexion contracture, Cam...	OMIM:272430
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Pycnodysostosis	Hypoplastic iliac wing, Acromelia, Mesomelia, Intrauterine growth retardation, Joint hypermobilit...	ORPHA:763
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Retrognathia, Preaxial polydactyly, Bilateral talipes equinovarus, Postaxial polydactyly, Microgn...	OMIM:618142
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Large tarsal bones, Flared metaphysis, Short long bone, Aplasia/Hypoplasia of the capital femoral...	OMIM:215150
Campomelic Dysplasia	Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Pectus carinatum, Fe...	OMIM:114290
Lymphatic Malformation 7	Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc...	OMIM:617300
Robinow Syndrome, Autosomal Dominant 1	Retrognathia, Radial deviation of finger, Dislocated radial head, Short long bone, Pectus excavat...	OMIM:180700
Craniofrontonasal Syndrome	Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Pectus excavatum, Coronal cranio...	OMIM:304110
Immunodeficiency 54	Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections, Intrauterine gr...	OMIM:609981
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Retrognathia, Pectus carinatum, Micrognathia, Short toe, Flexion contracture, Malar flattening, T...	ORPHA:98791
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Leukocytosis, Splenic infarction, Retinopathy,...	OMIM:603903
Wieacker-Wolff Syndrome	Retrognathia, Proximal placement of thumb, Narrow chest, Congenital foot contractures, Camptodact...	OMIM:314580
Babesiosis	Jaundice, Hepatomegaly, Limitation of joint mobility, Leukopenia, Splenomegaly, Thrombocytopenia,...	ORPHA:108
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome	Retrognathia, Prominent fingertip pads, Tapered finger	OMIM:615722
Orofaciodigital Syndrome Xvii	Polydactyly, Retrognathia, Clubbing of fingers, Central Y-shaped metacarpal, Partial duplication ...	OMIM:617926
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Ventilator dependence with inability to wean, Camptodactyly of finger, Intrauterine growth retard...	OMIM:604320
Congenital Myopathy 2A, Typical, Autosomal Dominant	Respiratory insufficiency, Retrognathia, Respiratory insufficiency due to muscle weakness, Arthro...	OMIM:161800
Free Sialic Acid Storage Disease	Hepatomegaly, Reduced bone mineral density, Ascites, Nephrotic syndrome, Proteinuria, Splenomegaly	ORPHA:834
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Wide anterior fontanel, Omphalocele, Umbilical hernia	ORPHA:2143
Familial Thyroid Dyshormonogenesis	Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Umbilical hernia	ORPHA:95716
9P13 Microdeletion Syndrome	Clinodactyly of the 5th finger, Joint stiffness, Microretrognathia, Umbilical hernia, Abnormality...	ORPHA:324313
Short Stature-Micrognathia Syndrome	Retrognathia, Rhizomelia, 2-3 toe syndactyly, Broad femoral neck, Micrognathia, Metaphyseal widen...	OMIM:617164
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Hepatomegaly, Pancreatitis, Anemia, Thrombocytopenia, Splenomegaly, Renal insuffic...	ORPHA:79312
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly	OMIM:214900
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Fg Syndrome Type 1	Abnormal thumb morphology, Clinodactyly of the 2nd finger, Inguinal hernia, Finger syndactyly, Br...	ORPHA:93932
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Arterial Tortuosity Syndrome	Rocker bottom foot, Abnormal zygomatic bone morphology, Clinodactyly of the 5th finger, Inguinal ...	ORPHA:3342
Gaucher Disease	Retinopathy, Joint stiffness, Leukopenia, Splenomegaly, Pathologic fracture, Osteolysis, Pancytop...	ORPHA:355
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen, Abnormal retinal morphology	ORPHA:89844
Chromosome 18Q Deletion Syndrome	Rocker bottom foot, Proximal placement of thumb, Inguinal hernia, Joint hypermobility, Mandibular...	OMIM:601808
Omodysplasia 1	Limited elbow extension, Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Limited ...	OMIM:258315
Image Syndrome	Intrauterine growth retardation, Metaphyseal dysplasia, Micromelia	ORPHA:85173
Cardiac-Urogenital Syndrome	Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Tracheomalacia, Aplasia of the uterus...	OMIM:618280
Muscular Dystrophy, Congenital, 1B	Respiratory failure, Achilles tendon contracture	OMIM:604801
Weyers Ulnar Ray/Oligodactyly Syndrome	Hypoplasia of the radius, Proximal radial head dislocation, Proximal placement of thumb, Finger a...	OMIM:602418
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:613101
Transient Neonatal Diabetes Mellitus	Intrauterine growth retardation, Umbilical hernia	ORPHA:99886
Hereditary Hyperekplexia	Joint stiffness, Umbilical hernia, Hernia, Hiatus hernia, Hip dislocation	ORPHA:3197
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Splenomegaly, Acholic stools	OMIM:619868
Oculodentodigital Dysplasia	Abnormal metaphysis morphology, Abnormal clavicle morphology, Clinodactyly of the 5th finger, Abn...	ORPHA:2710
Mucopolysaccharidosis, Type Ii	Inguinal hernia, Delayed eruption of teeth, Tracheobronchomalacia, Split hand, Recurrent pneumoni...	OMIM:309900
Kyphomelic Dysplasia	Lateral clavicle hook, Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, T...	OMIM:211350
Ear-Patella-Short Stature Syndrome	Retrognathia, Clinodactyly of the 5th finger, Joint hypermobility, Slender long bone, Craniosynos...	ORPHA:2554
Coffin-Siris Syndrome 6	Retrognathia, Pectus excavatum, Micrognathia, Brachydactyly, Clinodactyly	OMIM:617808
Insulin-Like Growth Factor I, Resistance To	Short finger, Retrognathia, Radial deviation of finger, Sandal gap, Short foot, Pectus excavatum,...	OMIM:270450
Osteogenesis Imperfecta, Type Vii	Osteopenia, Rhizomelia, Crumpled long bones, Narrow chest, Femoral retroversion, Wide anterior fo...	OMIM:610682
Hall-Riggs Syndrome	Abnormal metaphysis morphology, Delayed eruption of teeth, Abnormal dental enamel morphology, Joi...	ORPHA:2107
Sarcoidosis, Susceptibility To, 2	Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Clubbing, Pleural effusion, ...	OMIM:612387
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Retrognathia, Malar flattening	OMIM:613670
Familial Visceral Myopathy	Narrow chest, Aplasia/Hypoplasia of the abdominal wall musculature, Joint stiffness, Camptodactyl...	ORPHA:2604
Dysosteosclerosis	Optic atrophy, Craniofacial hyperostosis, Increased bone mineral density, Coarse metaphyseal trab...	ORPHA:1782
Meckel Syndrome 14	Pneumothorax, Occipital encephalocele, Retrognathia, Postaxial hand polydactyly, Bowing of the lo...	OMIM:619879
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Myelofibrosis, Splenomegaly, Extrame...	OMIM:254450
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto...	OMIM:609441
Kleefstra Syndrome Due To A Point Mutation	Inguinal hernia, Tracheomalacia, Natal tooth, Umbilical hernia, Tapered finger	ORPHA:261652
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Carpal bone hypoplasia, Tapered phalanx of finger, Small epiphyses, Single interphalangeal crease...	OMIM:611717
Intellectual Developmental Disorder, Autosomal Dominant 43	Umbilical hernia, Tapered finger, Hip dysplasia	OMIM:616977
De Barsy Syndrome	Osteopenia, Inguinal hernia, Delayed eruption of teeth, Pectus excavatum, Coxa vara, Congenital h...	ORPHA:2962
Mucolipidosis Type Ii	Respiratory failure requiring assisted ventilation, Abnormal long bone morphology, Narrow chest, ...	ORPHA:576
Acromesomelic Dysplasia, Hunter-Thompson Type	Tarsal synostosis, Abnormally shaped carpal bones, Cuboidal metacarpal, Short metacarpal, Abnorma...	ORPHA:968
Desmosterolosis	Osteopetrosis, Renal hypoplasia/aplasia, Increased bone mineral density, Renal agenesis, Splenome...	ORPHA:35107
Microphthalmia With Limb Anomalies	Metatarsal synostosis, Retrognathia, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Sandal gap...	OMIM:206920
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Hydronephrosis, Urethral atresia	OMIM:314390
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m...	ORPHA:90650
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga...	ORPHA:1972
Tatton-Brown-Rahman Syndrome	Mandibular prognathia, Short toe, Umbilical hernia, Joint hypermobility, Widely spaced toes	ORPHA:404443
Coxoauricular Syndrome	Reduced bone mineral density, Abnormal femur morphology, Abnormal pelvic girdle bone morphology, ...	ORPHA:1508
Classic Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Osteolysis	ORPHA:391
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly	ORPHA:664
Opsismodysplasia	Rhizomelia, Bell-shaped thorax, Narrow chest, Metaphyseal cupping, Hypoplastic pubic bone, Respir...	OMIM:258480
Gaucher Disease Type 3	Hepatomegaly, Anemia, Hematuria, Pancytopenia, Increased bone mineral density, Thrombocytopenia, ...	ORPHA:77261
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Wide anterior fontanel, Umbilical hernia	ORPHA:95715
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Copper accumulat...	OMIM:616828
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Short thorax, Short long bone, Death in infancy, Talipes equinovarus, Vertebral fusion	OMIM:618845
Developmental And Epileptic Encephalopathy 95	Short 4th metacarpal, Clinodactyly of the 5th finger, Inguinal hernia, Pectus carinatum, Short fo...	OMIM:618143
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Death in childhood, Inguinal hernia, Respiratory insufficiency, Neonatal death, Microretrognathia...	OMIM:614052
Lethal Congenital Contracture Syndrome 10	Stiff neck, Talipes equinovarus, Narrow chest, Short long bone, Femoral bowing, Omphalocele, Micr...	OMIM:617022
Camurati-Engelmann Disease	Anemia, Optic nerve compression, Diaphyseal sclerosis, Increased bone mineral density, Cortical t...	OMIM:131300
Hajdu-Cheney Syndrome	Partial absence of toe, Pectus carinatum, Decreased skull ossification, Umbilical hernia, Joint h...	ORPHA:955
Hereditary Motor And Sensory Neuropathy, Type Iic	Respiratory failure, Intercostal muscle weakness, Down-sloping shoulders, Hammertoe	OMIM:606071
Osteopetrosis, Autosomal Recessive 7	Optic atrophy, Femur fracture, Osteopetrosis, Hepatomegaly, Anemia, Optic nerve compression, Abno...	OMIM:612301
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis of mi...	ORPHA:85188
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Congenital bilateral hip dislocation, Tibial bowing, Micrognathia, Limb under...	ORPHA:453510
Hurler-Scheie Syndrome	Abnormality of the tonsils, Hepatomegaly, Limitation of joint mobility, Splenomegaly	ORPHA:93476
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Pneumocystosis	Respiratory failure requiring assisted ventilation, Acute infectious pneumonia, Respiratory insuf...	ORPHA:723
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Flexion contracture, Respiratory failure, Tapered finger	OMIM:616505
Autosomal Recessive Centronuclear Myopathy	Retrognathia, Respiratory insufficiency, Scapular winging, Long fingers, Hip contracture, Talipes...	ORPHA:169186
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ...	OMIM:266810
Uruguay Faciocardiomusculoskeletal Syndrome	Retrognathia, Hyperplasia of the maxilla, Limited elbow movement, Dislocation of toes, Camptodact...	OMIM:300280
Fetal Cytomegalovirus Syndrome	Optic atrophy, Jaundice, Anemia, Hepatomegaly, Chorioretinitis, Retinal hemorrhage, Thrombocytope...	ORPHA:294
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Osteopathia Striata-Cranial Sclerosis Syndrome	Abnormal metaphysis morphology, Retrognathia, Osteopetrosis, Spina bifida occulta, Asymmetry of t...	ORPHA:2780
Perlman Syndrome	Femoral hernia, Micrognathia, Retrognathia, Inguinal hernia	ORPHA:2849
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Camptodactyly of finger, Micrognathia, Retrognathia, Mandibular prognathia	ORPHA:2521
Intellectual Developmental Disorder, X-Linked 104	Retrognathia	OMIM:300983
Kniest Dysplasia	Fused cervical vertebrae, Bell-shaped thorax, Enlarged metaphyses, Abnormal cartilage collagen, D...	ORPHA:485
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly, Arthritis	OMIM:611762
Microphthalmia, Syndromic 9	Multilobulated spleen, Pelvic kidney, Bicornuate uterus, Cryptorchidism, Renal hypoplasia, Hypopl...	OMIM:601186
Menkes Disease	Abnormal metaphysis morphology, Tarsal synostosis, Narrow chest, Inguinal hernia, Joint hypermobi...	ORPHA:565
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal...	OMIM:616278
Catel-Manzke Syndrome	Genu valgum, Clinodactyly of the 5th finger, Inguinal hernia, Joint hypermobility, Pectus carinat...	OMIM:616145
Seckel Syndrome 5	Retrognathia, Clinodactyly of the 5th finger, 11 pairs of ribs, Enamel hypoplasia, Micrognathia, ...	OMIM:613823
Mirage Syndrome	Anemia, Hypospadias, Radial club hand, Recurrent urinary tract infections, Microphallus, Hypergon...	OMIM:617053
Aminopterin/Methotrexate Embryofetopathy	Anencephaly, Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Meningocele, Mand...	ORPHA:1908
C Syndrome	Radial deviation of finger, Dislocated radial head, Postaxial hand polydactyly, Short metacarpal,...	OMIM:211750
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Death in in...	OMIM:601559
Werner Syndrome	Renal neoplasm, Ovarian neoplasm, Aplasia/Hypoplasia of the testes, Increased bone mineral densit...	ORPHA:902
Cardioacrofacial Dysplasia 1	Genu valgum, Postaxial polydactyly, Hypoplasia of the maxilla, Limb undergrowth, Long thorax	OMIM:619142
Meier-Gorlin Syndrome 3	Patellar hypoplasia, Talipes equinovarus, Slender long bone, Absent sternal ossification, Aplasia...	OMIM:613803
Cardioacrofacial Dysplasia 2	Genu valgum, Clinodactyly of the 5th finger, Narrow chest, Mandibular prognathia, Clubbing, Posta...	OMIM:619143
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, 2-3 toe syndactyly, Short ribs, Missing ribs, Hypoplastic isc...	OMIM:617866
Congenital Myopathy 22B, Severe Fetal	Retrognathia, Tapered toe, Slender long bone, Shoulder flexion contracture, Thin ribs, Elbow flex...	OMIM:620369
Campomelic Dysplasia	Fibular hypoplasia, 11 pairs of ribs, Narrow chest, Poorly ossified cervical vertebrae, Respirato...	ORPHA:140
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Respiratory insufficiency, Retrognathia, Thin ribs, Joint hypermobility	ORPHA:456328
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Hepatocellular carcinoma, Splenomegaly	OMIM:613490
Gaba-Transaminase Deficiency	Retrognathia, Death in childhood	OMIM:613163
Malan Syndrome	Retrognathia, Advanced eruption of teeth, Mandibular prognathia, Pectus excavatum, Long fingers, ...	OMIM:614753
Snijders Blok-Campeau Syndrome	Inguinal hernia, Enamel hypoplasia, Umbilical hernia, Joint hypermobility, Taurodontia	OMIM:618205
Spondylometaphyseal Dysplasia, Schmidt Type	Narrow greater sciatic notch, Short iliac bones, Abnormal metaphysis morphology, Genu valgum, Abn...	ORPHA:93316
Immunodeficiency 109 With Lymphoproliferation	Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia	OMIM:620282
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Barrel-shaped chest, Mandibular prognathia, Broad thumb, Mesomelia, Brachydactyly, Jo...	ORPHA:171866
Lethal Acantholytic Erosive Disorder	Clinodactyly of the 5th finger, 4-5 finger syndactyly, Camptodactyly of toe, Natal tooth, 2-3 fin...	ORPHA:158687
Ciliary Dyskinesia, Primary, 21	Atelectasis, Recurrent pneumonia, Bronchiectasis, Neonatal respiratory distress, Chronic sinusitis	OMIM:615294
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Death in childhood, Chylothorax, Mandibular prognathia, Death in infancy, Joint contracture, Thor...	OMIM:620278
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormal rib morphology, Micromelia, Decreased calvarial ossification, Intrauterine growth retard...	ORPHA:2772
Oculoskeletodental Syndrome	Retrognathia, Thoracic kyphosis, Enamel hypoplasia, Hypoplasia of the capital femoral epiphysis, ...	ORPHA:557003
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Retrognathia, Tapered finger, Broad thumb, Flexion contracture, Intrauterine growth retardation, ...	OMIM:617452
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Dense calvaria, Joint stiffness, Splenomegaly, Cardiomegaly, Heparan sulfate excret...	OMIM:252920
Chromosome 17P13.1 Deletion Syndrome	Proximal placement of thumb, Knee flexion contracture, Elbow flexion contracture, Short foot, Spi...	OMIM:613776
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Trisomy 20P	Reduced bone mineral density, Abnormal hip bone morphology, Inguinal hernia, Finger syndactyly, S...	ORPHA:261318
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Finger syndacty...	ORPHA:3258
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Metatarsus adductus, Mesomelia, Radioulnar synostosis, Metatarsal...	OMIM:163400
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Aplasia/hypoplasia of the femur, Retrognathia, Broad distal phalanx of finger, Abnormal finger mo...	ORPHA:2636
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Ascites, Osteoporosis, Testicular...	OMIM:235200
Gorlin-Chaudhry-Moss Syndrome	Abnormal metacarpal morphology, Hypoplasia of the maxilla, Coronal craniosynostosis, Umbilical he...	ORPHA:2095
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Myelofibrosis, Leukocytosis, Ascites, Thrombocytopenia, Sp...	ORPHA:457077
Myhre Syndrome	Radial deviation of finger, Hypoplastic iliac wing, Short long bone, Joint stiffness, Intrauterin...	OMIM:139210
Alpha-Mannosidosis, Infantile Form	Osteopenia, Genu valgum, Abnormality of the sphenoid sinus, Craniosynostosis, Pectus carinatum, M...	ORPHA:309282
Alg9-Cdg	Enlarged kidney, Hepatomegaly, Abnormal bone ossification, Periportal fibrosis, Hypoplasia of the...	ORPHA:79328
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Respiratory failure, Slender finger	OMIM:250940
Dysostosis, Stanescu Type	Abnormal metaphysis morphology, Increased bone mineral density, Abnormal dental enamel morphology...	ORPHA:1798
Combined Oxidative Phosphorylation Deficiency 52	Respiratory failure, Death in infancy	OMIM:619386
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Clinodactyly of the 2nd finger, Broad middle phalanx of finger, Clinodactyly of the 3...	ORPHA:221139
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, S...	OMIM:618495
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal shoulder morphology, Narrow chest, Abnormal pelvic girdle bone morphology, Short metacar...	ORPHA:1422
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Osteoporo...	OMIM:257200
Congenital Sialidosis Type 2	Polydactyly, Respiratory tract infection, Inguinal hernia, Umbilical hernia	ORPHA:93400
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hypospadias, Microphallus, Hyperechogenic kidneys, Small scrotum, Ambiguous geni...	OMIM:612651
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Nephronophthisis, Cholestasis, Hepatic fibrosis, Splenomegaly, Chronic kidney disea...	OMIM:615630
Lateral Meningocele Syndrome	Inguinal hernia, Meningocele, Craniofacial hyperostosis, Pectus excavatum, Micrognathia, Malar fl...	ORPHA:2789
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones...	ORPHA:2634
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Ureteral duplication, Abnormal pancreas morphology, Congenital meg...	ORPHA:116
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Umbilical hernia	ORPHA:2349
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Abnormal metaphysis morphology, Retrognathia, Clinodactyly of the 5th finger, Hypoplastic iliac w...	ORPHA:2637
Cartilage-Hair Hypoplasia	Abnormal bone ossification, Abnormal hip bone morphology, Pectus carinatum, Tibial bowing, Abnorm...	ORPHA:175
Microcephaly-Microcornea Syndrome, Seemanova Type	Retrognathia	ORPHA:2528
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory failure, Arachnodactyly, Micrognathia, Retrognathia	ORPHA:2707
Adams-Oliver Syndrome 6	Renal hypoplasia, Hepatic fibrosis, Splenomegaly, Portal hypertension	OMIM:616589
Squalene Synthase Deficiency	Retrognathia, Slender long bone, 2-3 toe syndactyly, Elbow flexion contracture, Micrognathia, Kne...	OMIM:618156
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Arthritis, Splenomegaly	ORPHA:397596
Verheij Syndrome	Retrognathia, Joint hypermobility, Clinodactyly, Vertebral fusion, Intrauterine growth retardatio...	OMIM:615583
Gaucher Disease Type 1	Ascites, Leukopenia, Splenomegaly, Pathologic fracture, Osteolysis, Pancytopenia, Splenic infarct...	ORPHA:77259
Glycosylphosphatidylinositol Biosynthesis Defect 11	Inguinal hernia, Umbilical hernia	OMIM:616025
16P12.1P12.3 Triplication Syndrome	Retrognathia, 2-3 toe syndactyly, Prominent fingertip pads, Malar flattening, Brachydactyly, Intr...	ORPHA:485405
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Respiratory failure, Epiphyseal stippling	OMIM:614862
Muckle-Wells Syndrome	Optic atrophy, Hepatomegaly, Anemia, Arthritis, Nephrotic syndrome, Camptodactyly of finger, Sple...	ORPHA:575
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:75234
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Broad thumb, Large hands, Brachydactyly, Umbilical hernia	ORPHA:1770
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car...	OMIM:300106
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Abnormal cartilage matrix, Epiphyseal stippling, Short metacarpal, Pulmonary hypoplasia, Short di...	ORPHA:86822
Cryoglobulinemic Vasculitis	Glomerulopathy, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Arthritis, Viral hepatitis,...	ORPHA:91138
46,Xy Sex Reversal 11	Abnormal internal genitalia, Urogenital sinus anomaly, Aplasia of the uterus, Vanishing testis, G...	OMIM:273250
Pseudohypoparathyroidism Type 1B	Increased bone mineral density, Low urinary cyclic AMP response to PTH administration, Increased ...	ORPHA:94089
Lethal Congenital Contracture Syndrome 2	Respiratory failure, Micrognathia, Arthrogryposis multiplex congenita	OMIM:607598
Chromosome 3Pter-P25 Deletion Syndrome	Retrognathia, Postaxial polydactyly, Micrognathia, Intrauterine growth retardation, Overlapping t...	OMIM:613792
Cousin Syndrome	Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, Me...	OMIM:260660
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Distal Triplication 15Q	Retrognathia, Abnormal sternum morphology, Camptodactyly, Arachnodactyly, Micrognathia, Pulmonary...	ORPHA:314588
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hepatocellular carcinoma, Prostat...	ORPHA:158057
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Stormorken Syndrome	Anemia, Hematuria, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Retrognathia, Hyperextensibility of the finger joints, Broad thumb, Arachnodactyly, Toe syndactyl...	ORPHA:505237
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
X-Linked Intellectual Disability, Van Esch Type	Intrauterine growth retardation, Retrognathia, Clinodactyly of the 5th finger, Coronal craniosyno...	ORPHA:163976
Sponastrime Dysplasia	Short long bone, Mesomelia, Metaphyseal irregularity, Intrauterine growth retardation, Flattened ...	ORPHA:93357
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Lateral clavicle hook, Preaxial polydactyly, Narrow chest, Femoral bowing, Short ribs, Short long...	OMIM:615503
Ehlers-Danlos Syndrome, Periodontal Type, 1	Inguinal hernia, Atrophic scars, Arachnodactyly, Umbilical hernia, Joint hypermobility, Hiatus he...	OMIM:130080
Diamond-Blackfan Anemia 6	Retrognathia, Triphalangeal thumb, Tracheomalacia, Micrognathia, Short thumb	OMIM:612561
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Acrofacial Dysostosis, Rodríguez Type	Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Sp...	ORPHA:1788
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Autosomal Dominant Robinow Syndrome	Retrognathia, Supernumerary tooth, Clinodactyly of the 5th finger, Inguinal hernia, Finger syndac...	ORPHA:3107
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:612526
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Inguinal hernia, Mandibular prognathia, Pectus excavatum, Hypoplasia of the maxilla, Camptodactyl...	ORPHA:1101
Staphylococcal Necrotizing Pneumonia	Pneumothorax, Pulmonary pneumatocele, Acute infectious pneumonia, Pleural empyema, Pleural effusi...	ORPHA:36238
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Osteopenia, Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Mic...	OMIM:614837
Premature Aging Syndrome, Penttinen Type	Lipoatrophy, Retrognathia, Slender long bone, Delayed eruption of teeth, Recurrent fractures, Thi...	OMIM:601812
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi...	ORPHA:755
Opitz-Kaveggia Syndrome	Radial deviation of finger, Inguinal hernia, Wide anterior fontanel, Prominent fingertip pads, Sp...	OMIM:305450
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg...	OMIM:619463
Orofaciodigital Syndrome X	Fibular aplasia, Retrognathia, Finger aplasia, Preaxial hand polydactyly, Coalescence of tarsal b...	OMIM:165590
Hunter-Macdonald Syndrome	Clinodactyly of the 5th finger, Inguinal hernia, Pectus carinatum, 2-3 toe syndactyly, Premature ...	OMIM:611962
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l...	ORPHA:2256
3Mc Syndrome	Caudal appendage, Spina bifida occulta, Diastasis recti, Umbilical hernia, Limited pronation/supi...	ORPHA:293843
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Broad jaw, Broad thumb, Short palm, Micrognathia, Umbilical hernia, Tapered finger, Talipes equin...	OMIM:614501
Immunodeficiency 49	Pulmonary artery stenosis, Micrognathia, Natal tooth, Umbilical hernia	OMIM:617237
Distal 17P13.1 Microdeletion Syndrome	Retrognathia, Limited elbow movement, Limitation of knee mobility, Abnormal hand morphology, Arac...	ORPHA:319171
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Polycystic kidney dysplasia, Renal dysplasia, Ambiguous genitalia, Micropenis	OMIM:613091
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ...	OMIM:619313
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Respiratory failure, Achilles tendon contracture, Elbow contracture, Vertebral fusion	OMIM:606612
Erdheim-Chester Disease	Anemia, Renal insufficiency, Increased bone mineral density, Dysuria, Hydronephrosis, Osteomyelit...	ORPHA:35687
Ulnar Hypoplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis...	OMIM:191440
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Respiratory failure, Achilles tendon contracture, Scapular winging	OMIM:603689
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Sho...	OMIM:250220
Distal Deletion 19P	Vaginal hernia, Hypoplasia of the maxilla, Arachnodactyly, Umbilical hernia, Joint hypermobility,...	ORPHA:96129
Spondylometaphyseal Dysplasia, Algerian Type	Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysis, Genu valgum, ...	OMIM:184253
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Short thorax, Abnormal metatarsal morphology, Short long bone, Enlarged thorax, Aplasia/Hypoplasi...	ORPHA:163654
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Rocker bottom foot, Abnormal hip bone morphology, Abnormal sternum morphology, Short long bone, S...	ORPHA:457395
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Retrognathia, Distal shortening of limbs, Spina bifida occulta, Abnormal rib morpholo...	ORPHA:488434
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Dense calvaria, Joint stiffness, Splenomegaly, Rod-cone dystrophy, Heparan sulfate ...	OMIM:252930
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Micromelia	OMIM:273680
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Inguinal hernia, Umbilical hernia	ORPHA:2196
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Radial deviation of finger, Sandal gap, Inguinal hernia, Joint hypermobility, Pectus carinatum, C...	OMIM:618164
Trichothiodystrophy	Osteopenia, Retrognathia, Increased bone mineral density, Thoracic kyphosis, Clubbing, Recurrent ...	ORPHA:33364
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation...	OMIM:602347
Lateral Meningocele Syndrome	Inguinal hernia, Meningocele, Pectus excavatum, Micrognathia, Malar flattening, Sclerosis of skul...	OMIM:130720
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Respiratory failure, Generalized lipodystrophy, Reduced intr...	ORPHA:363400
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Meckel Syndrome, Type 9	Occipital encephalocele, Limb undergrowth, Talipes equinovarus	OMIM:614209
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Splen...	OMIM:607765
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Chronic neutropenia, Camptodactyly, Retinal coloboma, Transient neutropenia, Bif...	ORPHA:500095
Basilicata-Akhtar Syndrome	Retrognathia, Camptodactyly, Short palm, Adducted thumb, Short foot	OMIM:301032
Pyruvate Dehydrogenase E1-Alpha Deficiency	Recurrent aspiration pneumonia, Limb undergrowth, Flexion contracture, Intrauterine growth retard...	ORPHA:79243
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly, Flexion co...	ORPHA:85212
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Retrognathia, Recurrent lower respiratory tract infections, Joint contracture, Limb u...	OMIM:618005
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Pulmonary fibrosis, Nodular pat...	ORPHA:99931
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Abnormal abdomen morphology...	OMIM:216360
Developmental And Epileptic Encephalopathy 111	Inguinal hernia, Wide anterior fontanel, Pulmonary artery stenosis, Umbilical hernia, Recurrent r...	OMIM:620504
Congenital Varicella Syndrome	Intrauterine growth retardation, Atypical scarring of skin, Micromelia	ORPHA:291
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Pathologic fracture, Hyperspl...	OMIM:230800
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Midclavicular aplasia, Short ribs, Short metacarpal, Myelomening...	OMIM:305600
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Abnormal renal morphology, Biliary tract abnormality, Decreased number...	OMIM:137920
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Overlapping toe, Mandibular prognathia, Umbilical hernia	OMIM:620475
Silver-Russell Syndrome 3	Retrognathia, Clinodactyly of the 5th finger, Syndactyly, Elbow contracture, Small hand	OMIM:616489
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Elbow flexion contracture, Pectus excavatum, Aspiration pneumonia, Con...	ORPHA:2020
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of primary teeth, Recurrent pneumonia, Umbilical hernia, Hiatus hernia, Recurrent upp...	OMIM:619769
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Gm1 Gangliosidosis	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Inguinal hernia, Mandibular progna...	ORPHA:354
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Renal agenesis, Hypopl...	OMIM:601076
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities	Joint hypermobility, Retrognathia, Mandibular prognathia	OMIM:619595
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Aplasia of the ovary, Endom...	ORPHA:3109
Hyperekplexia 1	Umbilical hernia, Inguinal hernia, Hip dislocation	OMIM:149400
Robinow Syndrome, Autosomal Recessive 2	Ventral hernia, Sandal gap, Prominent fingertip pads, Camptodactyly, Omphalocele, Broad thumb, Mi...	OMIM:618529
Pontocerebellar Hypoplasia Type 1	Respiratory failure, Arthrogryposis multiplex congenita	ORPHA:2254
Ellis-Van Creveld Syndrome	Genu valgum, Talipes equinovarus, Narrow chest, Delayed eruption of teeth, Hypoplastic iliac wing...	OMIM:225500
Pyruvate Dehydrogenase E1-Alpha Deficiency	Respiratory failure	OMIM:312170
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Hepatomegaly, Biliary atresia, Polysplenia, Asplenia, Renal agenesis, Block vert...	OMIM:306955
Keutel Syndrome	Emphysema, Premature fusion of phalangeal epiphyses, Short hallux, Epiphyseal stippling, Recurren...	OMIM:245150
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Bilateral camptodactyly, Long hallux, Umbilical hernia, Joint hypermobility, Toe syndactyly, Tali...	OMIM:619234
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure	ORPHA:70472
Icf Syndrome	Micrognathia, Recurrent respiratory infections, Umbilical hernia	ORPHA:2268
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Genu valgum, Reduced bone mineral density, Inguinal hernia, Craniof...	ORPHA:581
Robinow Syndrome	Fused thoracic vertebrae, Mesomelic arm shortening, Dental malocclusion, Marked delay in eruption...	ORPHA:97360
Pelviscapular Dysplasia	Elbow flexion contracture, Hypoplastic ilia, Congenital hip dislocation, Humeroradial synostosis,...	ORPHA:93333
Schinzel-Giedion Syndrome	Retrognathia, Stiff elbow, Tibial bowing, Umbilical hernia, Short distal phalanx of finger, Overl...	ORPHA:798
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Incontinentia Pigmenti	Spina bifida occulta, Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morpho...	ORPHA:464
Weill-Marchesani Syndrome 2	Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the hand, Elbow fl...	OMIM:608328
Autoimmune Hypoparathyroidism	Increased bone mineral density, Calcium nephrolithiasis	ORPHA:36913
Oculocerebrorenal Syndrome Of Lowe	Death in infancy, Joint stiffness, Umbilical hernia, Joint hypermobility, Abnormal epiphysis morp...	ORPHA:534
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Na...	OMIM:617925
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Autosomal Recessive Hypophosphatemic Rickets	Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Renal phosphate wasting, ...	ORPHA:289176
Simpson-Golabi-Behmel Syndrome	Congenital diaphragmatic hernia, Pectus excavatum, Death in infancy, Broad thumb, Umbilical herni...	ORPHA:373
Mucolipidosis Iii Alpha/Beta	Carpal bone hypoplasia, Inguinal hernia, Mandibular prognathia, Short long bone, Short ribs, Spli...	OMIM:252600
Acrocallosal Syndrome	Clinodactyly of the 5th finger, Inguinal hernia, Finger syndactyly, Wide anterior fontanel, Mandi...	OMIM:200990
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Inguinal hernia, Death in infancy, Umbilical hernia, Intrauterine growth retardation, Elbow contr...	OMIM:620275
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Respiratory failure requiring assisted ventilation, Retrognathia, Flexion contracture	OMIM:619026
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Acrofacial Dysostosis 1, Nager Type	Congenital diaphragmatic hernia, Retrognathia, Radial deviation of finger, Temporomandibular join...	OMIM:154400
Pulmonary Alveolar Microlithiasis	Pneumothorax, Pleural thickening, Subpleural interstitial thickening, Clubbing of fingers, Respir...	ORPHA:60025
Cleft Lip/Palate	Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-...	ORPHA:199306
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Micrognathia, Malar flattening, Dental malocclusion, Umbilical hernia	ORPHA:85321
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci...	OMIM:265300
Meester-Loeys Syndrome	Pulmonary artery aneurysm, Broad distal phalanx of finger, Abnormal sternum morphology, Camptodac...	OMIM:300989
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Acute Lung Injury	Pneumonia, Respiratory failure, Diffuse alveolar hemorrhage, Abnormal pulmonary interstitial morp...	ORPHA:178320
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Retrognathia, Patellar hypoplasia, Brachydactyly, Short fourth metatarsal	ORPHA:464288
Braddock-Carey Syndrome 2	Retrognathia, Clinodactyly	OMIM:619981
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Reduced bone mineral density, Leukocytosis, Abnormal granu...	ORPHA:1451
Lambotte Syndrome	Intrauterine growth retardation, Retrognathia, Preaxial foot polydactyly	OMIM:245552
Loeys-Dietz Syndrome 6	Congenital diaphragmatic hernia, Hip osteoarthritis, Intervertebral disk degeneration, Inguinal h...	OMIM:619656
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Retrognathia, Finger syndactyly, Arachnodactyly, Short palm, Intrauterine growth retardation, Toe...	ORPHA:73246
Fanconi Renotubular Syndrome 5	Genu valgum, Emphysema, Hypophosphatemic rickets, Lung adenocarcinoma, Pulmonary fibrosis	OMIM:618913
Waardenburg Syndrome Type 3	Atelectasis, Tracheomalacia, Abnormal finger morphology, Synostosis of carpal bones, Joint stiffn...	ORPHA:896
19Q13.11 Microdeletion Syndrome	Retrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Congenital hip dislocation, Toe ...	ORPHA:217346
Adams-Oliver Syndrome 5	Inguinal hernia, Syndactyly, Brachydactyly, Umbilical hernia	OMIM:616028
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Retrognathia, Micrognathia, Supernumerary ribs	ORPHA:163961
Chromosome 2P16.1-P15 Deletion Syndrome	Retrognathia, Calcaneovalgus deformity, Camptodactyly, Pectus excavatum, Metatarsus adductus, Ara...	OMIM:612513
Schneckenbecken Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Lateral clavicle ...	ORPHA:3144
Fontaine Progeroid Syndrome	Pneumothorax, Retrognathia, Respiratory insufficiency, Wide anterior fontanel, Hypoplasia of the ...	OMIM:612289
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Joint hypermobility, Recurrent respiratory infections, Diastasis recti, Umbilical hernia	OMIM:616579
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Split hand, Postaxial hand polydactyly, Micromelia, Short humerus, Aplasia/Hypoplasia of the ulna	ORPHA:2491
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Genu valgum, Reduced bone mineral density, Barrel-shaped chest, Small epi...	ORPHA:94068
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Limited elbow extension, Genu valgum, Talipes equinovarus, Broad long bone diaphyses, Broad metac...	OMIM:301066
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Rhizomelia, Flared metaphysis, Short long bone, Metaphyseal spurs, ...	ORPHA:85167
Loeys-Dietz Syndrome 4	Pneumothorax, Retrognathia, Emphysema, Inguinal hernia, Abnormal sternum morphology, Arachnodacty...	OMIM:614816
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Loeys-Dietz Syndrome 2	Retrognathia, Pulmonary artery aneurysm, Abnormal sternum morphology, Pectus carinatum, Pectus ex...	OMIM:610168
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Arthritis, Splenomegaly, Juvenile rheumatoid arthritis	ORPHA:85414
Marshall-Smith Syndrome	Retrognathia, Reduced bone mineral density, Slender long bone, Bowing of the long bones, Joint hy...	ORPHA:561
15Q Overgrowth Syndrome	Retrognathia, Clinodactyly of the 5th finger, Joint hypermobility, Craniosynostosis, Abnormal ste...	ORPHA:314585
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Retrognathia, Clinodactyly of the 5th finger, Sandal gap, 2-3 toe syndactyly, Scapular winging, P...	OMIM:617061
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Acromesomelic Dysplasia 1	Limited elbow extension, Hypoplasia of the radius, Broad finger, Short metatarsal, Cone-shaped ep...	OMIM:602875
Proteus Syndrome	Retinal hamartoma, Cranial hyperostosis, Enlarged kidney, Ovarian neoplasm, Long penis, Hyperosto...	ORPHA:744
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Vacterl With Hydrocephalus	Hypoplasia of the radius, Retrognathia, Inguinal hernia, Femoral hernia, Spina bifida, Micrognath...	ORPHA:3412
Pyknoachondrogenesis	Short iliac bones, Craniofacial hyperostosis, Abnormal iliac wing morphology, Short thorax, Short...	ORPHA:3003
Congenital Multicore Myopathy With External Ophthalmoplegia	Joint hypermobility, Flexion contracture, Increased connective tissue, Pneumonia, Respiratory fai...	ORPHA:98905
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
20Q11.2 Microduplication Syndrome	Limited elbow extension, Retrognathia, Clinodactyly of the 5th finger, Inguinal hernia, Pectus ca...	ORPHA:363659
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Rocker bottom foot, Retrognathia, Talipes equinovarus, Postaxial hand polydactyly, Pulmonary arte...	OMIM:301056
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure	OMIM:613435
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, Cran...	ORPHA:508533
Developmental Malformations-Deafness-Dystonia Syndrome	Femoral retroversion, Hypoplastic scapulae, Death in early adulthood, Micromelia	ORPHA:79107
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Limited elbow extension, Genu valgum, Rhizomelia, Flat capital femoral epiphysis, Sma...	OMIM:271510
Hajdu-Cheney Syndrome	Osteopenia, Genu valgum, Fibular bowing, Osteolytic defects of the phalanges of the hand, Inguina...	OMIM:102500
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Renal insufficiency, Polycystic kidney dysplasia, Vesicoureteral reflu...	ORPHA:2237
Kenny-Caffey Syndrome, Type 2	Anemia, Retinal calcification, Increased bone mineral density, Papilledema, Thickened cortex of l...	OMIM:127000
Raine Syndrome	Increased bone mineral density, Mandibular prognathia, Bowing of the long bones, Pectus excavatum...	OMIM:259775
Allergic Bronchopulmonary Aspergillosis	Respiratory insufficiency, Emphysema, Bronchiectasis	ORPHA:1164
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hepatocellular carci...	ORPHA:64743
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
Congenital Myopathy 10B, Mild Variant	Respiratory failure, Recurrent pneumonia, Elbow contracture, Achilles tendon contracture	OMIM:620249
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Intellectual Developmental Disorder, Autosomal Recessive 78	Retrognathia, Clinodactyly of the 5th finger, Narrow chest, Pectus excavatum, Microretrognathia, ...	OMIM:620237
Alg1-Cdg	Respiratory failure, Limitation of joint mobility	ORPHA:79327
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lipoatrophy, Retrognathia, Generalized lipodystrophy, Narrow chest, Hyperextensibility of the fin...	OMIM:616914
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute...	OMIM:158330
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
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Tracheobronchopathia Osteochondroplastica	Atelectasis, Respiratory insufficiency, Bronchitis, Calcification of cartilage, Recurrent pneumon...	ORPHA:3348
Congenital Disorder Of Glycosylation, Type Iil	Retrognathia, Death in infancy, Postaxial polydactyly, Enamel hypoplasia, Hip dysplasia, Intraute...	OMIM:614576
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Mucolipidosis Type Iii Alpha/Beta	Diastasis recti, Joint stiffness, Generalized osteoporosis, Flexion contracture, Umbilical hernia...	ORPHA:423461
Aneurysm-Osteoarthritis Syndrome	Retrognathia, Intervertebral disk degeneration, Inguinal hernia, Joint hypermobility, Pectus cari...	ORPHA:284984
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
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wing, Short long bone, Wi...	ORPHA:2502
Postsynaptic Congenital Myasthenic Syndromes	Respiratory failure, Thoracic kyphoscoliosis	ORPHA:98913
Distal Deletion 3P	Clinodactyly of the 5th finger, Inguinal hernia, Postaxial hand polydactyly, Micrognathia, Umbili...	ORPHA:1620
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Myelofibrosis, Bone marrow hypocellularity, ...	ORPHA:86843
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory insufficiency, Respiratory failure, Death in infancy	OMIM:614299
Leprechaunism	Enlarged kidney, Hepatomegaly, Clitoral hypertrophy, Long penis, Hypercalciuria, Overgrowth of ex...	ORPHA:508
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Short finger, Rhizomelia, Flared metaphysis, Metaphyseal cupping, F...	OMIM:608940
Combined Oxidative Phosphorylation Deficiency 4	Intrauterine growth retardation, Respiratory failure, Death in infancy	OMIM:610678
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal fallopian tube morphology, Abnormal renal morphology, Pancreatic lymphangi...	ORPHA:1655
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Retrognathia, Chronic bronchitis, Recurrent upper respiratory tract infections	OMIM:614069
Wrinkly Skin Syndrome	Osteopenia, Inguinal hernia, Slender long bone, Delayed eruption of teeth, Wide anterior fontanel...	OMIM:278250
Chromosome 19Q13.11 Deletion Syndrome, Distal	Retrognathia, Clinodactyly of the 5th finger, Inguinal hernia, Cutaneous finger syndactyly, Micro...	OMIM:613026
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Atelectasis, Recurrent lower respiratory tract infections, Abnormality of the temporomandibular j...	ORPHA:258
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, In...	OMIM:618454
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Bilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Hyperechog...	OMIM:617914
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Clinodactyly of the 5th finger, Clubbing of fingers, Metaphyseal cupping, Short long ...	OMIM:156400
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Umbilical hernia	OMIM:614520
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Recurrent urinary tract infections, Arthritis, Abnormal ly...	ORPHA:47612
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Radial deviation of finger, Talipes equinovarus, Absent frontal sinuses, Mandibular prognathia, C...	OMIM:301040
Spondyloenchondrodysplasia	Pneumonia, Juvenile rheumatoid arthritis, Delayed eruption of teeth, Pectus carinatum, Arthritis,...	ORPHA:1855
Combined Oxidative Phosphorylation Deficiency 11	Stillbirth, Death in childhood, Death in infancy, Neonatal death, Respiratory failure	OMIM:614922
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Multiple Mitochondrial Dysfunctions Syndrome 1	Respiratory insufficiency, Respiratory failure, Neonatal death, Death in infancy	OMIM:605711
2P15P16.1 Microdeletion Syndrome	Retrognathia, Sandal gap, Inguinal hernia, Enlarged thorax, Pectus excavatum, Metatarsus adductus...	ORPHA:261349
Nicolaides-Baraitser Syndrome	Broad distal phalanx of finger, Short metatarsal, Sandal gap, Recurrent respiratory infections, I...	OMIM:601358
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Adnp Syndrome	Polydactyly, Advanced eruption of teeth, Sandal gap, Inguinal hernia, Abnormal finger morphology,...	ORPHA:404448
Van Der Woude Syndrome 1	Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit	OMIM:119300
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Bohring-Opitz Syndrome	Retrognathia, Dislocated radial head, Mesomelic/rhizomelic limb shortening, Camptodactyly, Microg...	OMIM:605039
Basel-Vanagaite-Smirin-Yosef Syndrome	Overlapping fingers, Retrognathia, Inguinal hernia, Finger syndactyly, Broad distal phalanx of th...	ORPHA:464738
Lowry-Maclean Syndrome	Congenital diaphragmatic hernia, Retrognathia, Osteopenia, Inguinal hernia, Talon cusp, Osteoporo...	ORPHA:2409
Pseudo-Torch Syndrome 1	Microretrognathia, Umbilical hernia	OMIM:251290
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu...	OMIM:308240
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Flexion contracture, Splenomegaly	OMIM:619183
Leukocyte Adhesion Deficiency Type Ii	Scarring, Mandibular prognathia, Recurrent pneumonia, Limb undergrowth, Umbilical hernia, Intraut...	ORPHA:99843
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Retrognathia, Micrognathia, Persistence of primary teeth	OMIM:618342
Osteopetrosis With Renal Tubular Acidosis	Optic atrophy, Osteopetrosis, Hepatomegaly, Anemia, Distal renal tubular acidosis, Pancytopenia, ...	ORPHA:2785
Mesomelia-Synostoses Syndrome	Short umbilical cord, Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal...	OMIM:600383
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
4Q21 Microdeletion Syndrome	Micromelia, Short palm, Intrauterine growth retardation, Toe syndactyly, Short foot, Small hand	ORPHA:238750
Ellis Van Creveld Syndrome	Genu valgum, Emphysema, Narrow chest, Delayed eruption of teeth, Short thorax, Conical incisor, S...	ORPHA:289
Ciliary Dyskinesia, Primary, 53	Cardiomegaly, Hypoplastic spleen, Polysplenia, Abdominal situs inversus	OMIM:620642
Monosomy 9Q22.3	Polydactyly, Delayed eruption of teeth, Pectus excavatum, Abnormal rib morphology, Umbilical hern...	ORPHA:77301
Campomelia, Cumming Type	Bowing of the long bones, Abnormal rib morphology, Micromelia, Death in infancy, Abnormally ossif...	ORPHA:1318
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Osteopetrosis	OMIM:617306
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Leigh Syndrome	Respiratory insufficiency, Respiratory failure	OMIM:256000
Holoprosencephaly-Postaxial Polydactyly Syndrome	Abnormal lung lobation, Encephalocele, Postaxial hand polydactyly, Omphalocele, Micrognathia, Hyp...	ORPHA:2166
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Repeated pneumothoraces, Pectus carinatum, Pectus excavatum, Arachnodactyly, Slender long bones w...	ORPHA:536467
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory failure, Respiratory insufficiency due to muscle weakness	ORPHA:352447
Lenz-Majewski Hyperostotic Dwarfism	Epispadias, Cranial hyperostosis, Osteopetrosis, External genital hypoplasia, Abnormal cortical b...	ORPHA:2658
Avian Influenza	Pneumothorax, Miscarriage, Pleural effusion, Pneumonia, Respiratory failure	ORPHA:454836
Apolipoprotein C-Ii Deficiency	Lipemia retinalis, Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Inguinal hernia, Shoulder dislocation, Pectus carinatum, Pectus excavatum, Osteoporos...	ORPHA:536545
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Rhizomelia, Short long bone, Posterior rib gap, Intrauterine growth retardation, Camp...	OMIM:611209
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Periostitis, Osteopenia, Hepatomegaly, Fused cervical vertebrae, Neutrophilia, Osteomyelitis, Spl...	OMIM:612852
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Pneumothorax, Scarring, Hiatus hernia, Atrophic scars, Diastasis recti, Pectus excavatum, Arachno...	OMIM:601776
Hydrolethalus	Retrognathia, Anencephaly, Postaxial hand polydactyly, Micromelia, Micrognathia	ORPHA:2189
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly	ORPHA:90037
Cohen-Gibson Syndrome	Osteopenia, Retrognathia, Flared metaphysis, Hypoplastic iliac wing, Camptodactyly, Broad thumb, ...	OMIM:617561
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos...	ORPHA:846
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Enamel hypoplasia, Retrognathia	OMIM:617915
Hypothyroidism Due To Tsh Receptor Mutations	Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Umbilical hernia	ORPHA:90673
Stankiewicz-Isidor Syndrome	Retrognathia, 2-3 toe syndactyly, Micrognathia, Absent thumb, Short thumb	OMIM:617516
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Meckel Syndrome, Type 3	Occipital encephalocele, Hepatomegaly, Bile duct proliferation, Cleft palate, Hepatic fibrosis, M...	OMIM:607361
Chromosome 9P Deletion Syndrome	Clinodactyly of the 5th toe, Retrognathia, Sandal gap, Inguinal hernia, Clinodactyly of the 4th t...	OMIM:158170
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He...	OMIM:618935
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly	OMIM:306000
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Retrognathia, Micrognathia, Prominent fingertip pads, Laryngotracheomalacia	OMIM:616875
Peho Syndrome	Retrognathia, Tapered finger	OMIM:260565
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia, Scarring, Pulmonary artery aneurysm, Death in childhood, Emphyse...	OMIM:614437
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Abnormal fibula morphology, Retrognathia, Inguinal hernia, Sandal gap, Abnormal dental enamel mor...	ORPHA:1812
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Urogenital s...	ORPHA:90797
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Retrognathia, Thoracic kyphosis, Hypoplasia of teeth, Micrognathia, Tapered finger	OMIM:620250
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Umbilical hernia, Syndactyly, Pectus excavatum, Congenital hip dislocation	OMIM:104350
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal reproductive system morphology, Abnormal testis m...	ORPHA:1916
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot...	OMIM:263520
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Retrognathia, Mandibular prognathia, Camptodactyly, Clinodactyly, Tapered finger	OMIM:619576
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Splenomegaly	ORPHA:2414
Scheie Syndrome	Hepatomegaly, Limitation of joint mobility, Mucopolysacchariduria, Joint stiffness, Splenomegaly	ORPHA:93474
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Increased bone mineral density, Thin bony cortex, Osteopenia	ORPHA:85184
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Osteopenia, Retrognathia, Clinodactyly of the 5th finger, Clubbing of fingers, Pectus carinatum, ...	OMIM:620083
Adult Acute Respiratory Distress Syndrome	Pneumonia, Respiratory failure, Pulmonary edema	ORPHA:70578
Developmental And Epileptic Encephalopathy 89	Death in childhood, Narrow chest, Omphalocele, Neonatal death, Limb undergrowth, Flexion contract...	OMIM:619124
Niemann-Pick Disease, Type C2	Death in childhood, Respiratory insufficiency, Death in infancy, Pulmonary fibrosis, Respiratory ...	OMIM:607625
Craniorachischisis	Congenital diaphragmatic hernia, Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Ompha...	ORPHA:63260
Pallister-Hall Syndrome	Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Syndactyly, Intrauter...	OMIM:146510
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Respiratory failure	OMIM:613954
Congenital Disorder Of Glycosylation, Type Iia	Osteopenia, Retrognathia, Proximal placement of thumb, Slender long bone, Mandibular prognathia, ...	OMIM:212066
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Contracture of the proximal interphalangeal joint of the 5th finger, Clinodactyly of the 5th fing...	OMIM:280000
Xylt1-Cdg	Flared metaphysis, Short clavicles, Short long bone, Broad thumb, Short femoral neck, Broad ribs,...	ORPHA:370930
Intellectual Developmental Disorder, Autosomal Dominant 1	Retrognathia, Clinodactyly of the 5th finger, Sandal gap, Short thorax, Mandibular prognathia, Sh...	OMIM:156200
Multiple Sulfatase Deficiency	Optic atrophy, Hepatomegaly, Mucopolysacchariduria, Joint stiffness, Abnormality of retinal pigme...	ORPHA:585
Lumbar Syndrome	Hypospadias, Vesicoureteral reflux, Bifid scrotum, Renal agenesis, Renal duplication, Bifid uteru...	ORPHA:83628
Floating-Harbor Syndrome	Ivory epiphyses of the distal phalanges of the hand, Clinodactyly of the 5th finger, 11 pairs of ...	OMIM:136140
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Inguinal hernia, Pectus carinatum, 2-3 toe syndactyly, Recurrent pneumonia	OMIM:616449
Orofacial Cleft 13	Retrognathia, Micrognathia, Malar flattening	OMIM:613857
Axenfeld-Rieger Syndrome, Type 2	Hypoplasia of the maxilla, Mandibular prognathia, Inguinal hernia, Umbilical hernia	OMIM:601499
Houge-Janssens Syndrome 3	Inguinal hernia, Umbilical hernia	OMIM:618354
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing	OMIM:156232
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Intrauterine growth retardation, Adducted thumb, Inguinal hernia, Umbilical hernia	ORPHA:79351
Phocomelia, Schinzel Type	Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna, Abnormal tibia morphology, Aplasi...	ORPHA:2879
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ...	OMIM:226990
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly	ORPHA:75233
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia, Splenomegaly, Cranial hyperostosis	OMIM:612918
Gapo Syndrome	Bell-shaped thorax, Wide anterior fontanel, Eruption failure, Micrognathia, Umbilical hernia, Joi...	OMIM:230740
Lymphatic Malformation 5	Facial edema, Cleft palate, Predominantly lower limb lymphedema	OMIM:153200
Paternal Uniparental Disomy Of Chromosome 6	Retrognathia, Micrognathia, Umbilical hernia, Intrauterine growth retardation, Joint hypermobilit...	ORPHA:96191
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Multiple Benign Circumferential Skin Creases On Limbs	Micrognathia, Inguinal hernia, Umbilical hernia	ORPHA:2505
Dpm1-Cdg	Sandal gap, Camptodactyly, Micrognathia, Long hallux, Limb undergrowth, Knee flexion contracture	ORPHA:79322
Birt-Hogg-Dubé Syndrome	Pneumothorax, Multiple lipomas, Pulmonary sequestration, Emphysema	ORPHA:122
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Broad finger, Retrognathia, Abnormal hand morphology, Short phalanx of finger, Small hand	OMIM:300845
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory failure, Wide anterior fontanel, Scapular winging, Cardiorespiratory arrest	ORPHA:26791
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
Thyroid Dyshormonogenesis 1	Umbilical hernia	OMIM:274400
Wrinkly Skin Syndrome	Osteopenia, Inguinal hernia, Delayed eruption of teeth, Pectus excavatum, Coxa vara, Congenital h...	ORPHA:2834
Intellectual Developmental Disorder, Autosomal Dominant 70	Retrognathia, Mandibular prognathia, Hypoplasia of the maxilla, Micrognathia, Malar flattening	OMIM:620157
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Fibular hypoplasia, Anterior tibial bowing, Dislocated radial head, Hypoplastic ...	OMIM:605274
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Death in childhood	OMIM:615838
Neonatal Marfan Syndrome	Lipoatrophy, Emphysema, Long toe, Pectus carinatum, Enlarged thorax, Arachnodactyly, Long fingers...	ORPHA:284979
Otopalatodigital Syndrome Type 2	Tarsal synostosis, Hypospadias, Increased bone mineral density, Synostosis of carpal bones, Campt...	ORPHA:90652
Spastic Paraplegia 23, Autosomal Recessive	Retrognathia, Micrognathia, Scapular winging	OMIM:270750
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Acute hepatitis, Arthritis, Hepatitis, Thrombocytopeni...	ORPHA:905
Joubert Syndrome 21	Occipital encephalocele, Bell-shaped thorax, Encephalocele, Short ribs, Pulmonary hypoplasia, Res...	OMIM:615636
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Cat Eye Syndrome	Absent radius, Micrognathia, Total anomalous pulmonary venous return, Umbilical hernia	OMIM:115470
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Diaphyseal cortical sclerosis, Osteopenia, Fractures of the long bones, Patchy osteosclerosis, Os...	OMIM:112250
Acrofrontofacionasal Dysostosis	Abnormal epiphysis morphology, Micromelia, Broad thumb, Camptodactyly of finger, Brachydactyly, S...	ORPHA:1784
Hyper-Igd Syndrome	Lymphadenopathy, Arthritis, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Spleno...	OMIM:260920
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
3P25.3 Microdeletion Syndrome	Proximal placement of thumb, Mandibular prognathia, Broad thumb, Postaxial polydactyly, Micrognat...	ORPHA:435638
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Bifid first metacarpal, Femoral bowing, Short metacarpal, Death in infancy, ...	OMIM:210710
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ...	OMIM:619802
Bloom Syndrome	Retrognathia, Bronchitis, Micrognathia, Respiratory tract infection, Adipose tissue loss, Malar f...	ORPHA:125
Spondyloepimetaphyseal Dysplasia, Krakow Type	Irregular epiphyses, Delayed pubic bone ossification, Clinodactyly of the 5th finger, Rhizomelia,...	OMIM:618162
Carpenter Syndrome 2	Retrognathia, Pectus carinatum, Pectus excavatum, Broad thumb, Umbilical hernia, Craniosynostosis...	OMIM:614976
Branchioskeletogenital Syndrome	Bladder exstrophy, Mandibular prognathia, Abnormal dentin morphology, Upper limb peromelia, Pectu...	ORPHA:1299
Congenital Disorder Of Glycosylation, Type Iie	Retrognathia, Respiratory insufficiency, Neonatal asphyxia, Death in infancy, Micrognathia, Intra...	OMIM:608779
Tatton-Brown-Rahman Syndrome	Sagittal craniosynostosis, Umbilical hernia	OMIM:615879
46,Xy Sex Reversal 4	Gonadal dysgenesis, Distal symphalangism, Hypoplastic labia majora, Hypergonadotropic hypogonadis...	OMIM:154230
Familial Tumoral Calcinosis	Hyperostosis, Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Polydactyly, Narrow chest, Short long bone, Brachydactyly	OMIM:613819
Bare Lymphocyte Syndrome, Type I	Emphysema, Recurrent bronchitis, Bronchiolitis, Bronchiectasis, Chronic sinusitis	OMIM:604571
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Transaldolase Deficiency	Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertrophy, Pancytopenia, Hepatosplenomegaly, Splenome...	OMIM:606003
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities	Intrauterine growth retardation, Retrognathia, Craniosynostosis	OMIM:620428
Bartsocas-Papas Syndrome 1	Ulnar bowing, Inguinal hernia, Hypoplasia of the maxilla, Hypoplastic iliac wing, Oligodactyly, S...	OMIM:263650
Okur-Chung Neurodevelopmental Syndrome	Clinodactyly of the 5th finger, Inguinal hernia, Micrognathia, Broad hallux, Brachydactyly, Umbil...	OMIM:617062
Proteus-Like Syndrome	Retinal detachment, Hyperostosis, Splenomegaly, Thymus hyperplasia, Polycystic ovaries	ORPHA:2969
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Genu valgum, Flared metaphysis, Delayed epiphyseal ossification, Short thorax, Mandib...	OMIM:616007
Ogden Syndrome	Pulmonary edema, Clinodactyly of the 5th finger, Sandal gap, Inguinal hernia, Wide anterior fonta...	OMIM:300855
Gm1 Gangliosidosis Type 1	Spatulate ribs, Broad long bone diaphyses, Pectus carinatum, Short long bone, Broad metacarpals, ...	ORPHA:79255
Riddle Syndrome	Abnormal pulmonary interstitial morphology, Bronchitis, Neonatal asphyxia, Arthritis, Recurrent s...	ORPHA:420741
Tbck-Related Intellectual Disability Syndrome	Broad finger, 11 pairs of ribs, Respiratory insufficiency, Broad toe, 2-3 toe syndactyly, Mandibu...	ORPHA:488632
Loeys-Dietz Syndrome 5	Retrognathia, Flexion contracture of toe, Inguinal hernia, Hiatus hernia, Pectus carinatum, Bilat...	OMIM:615582
Dent Disease 2	Umbilical hernia	OMIM:300555
Shashi-Pena Syndrome	Retrognathia, Cervical C2/C3 vertebral fusion, Short metacarpal, Osteoporosis, Intrauterine growt...	OMIM:617190
Meckel Syndrome 12	Bilateral renal agenesis, Ureteral hypoplasia, Renal hypoplasia, Vaginal atresia, Arthrogryposis ...	OMIM:616258
Pallister-Hall Syndrome	Mesoaxial polydactyly, Oligodactyly, Broad thumb, Umbilical hernia, Intrauterine growth retardati...	ORPHA:672
Loeys-Dietz Syndrome 3	Retrognathia, Abnormal sternum morphology, Pectus carinatum, Arachnodactyly, Umbilical hernia, Cy...	OMIM:613795
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Lymphopenia, Joint hypermobility, Penile freckling, Hydrocele testis	OMIM:605309
Gaucher Disease, Perinatal Lethal	Retrognathia, Micrognathia, Neonatal death, Pulmonary hypoplasia, Thoracic hypoplasia, Intrauteri...	OMIM:608013
Craniometaphyseal Dysplasia	Osteopetrosis, Craniofacial hyperostosis	ORPHA:1522
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Retrognathia, Micrognathia, Brachydactyly, Congenital contracture	OMIM:620156
Mucopolysaccharidosis Type 2, Severe Form	Diaphyseal undertubulation, Inguinal hernia, Arthritis, Temporomandibular joint ankylosis, Limita...	ORPHA:217085
Hypertrichosis Cubiti	Joint hypermobility, Rhizomelia, Micromelia	ORPHA:2220
Microphthalmia With Limb Anomalies	Sandal gap, Short long bone, Tibial bowing, Death in infancy, Broad thumb, Hypoplasia of the prem...	ORPHA:1106
Muscular Dystrophy, Duchenne Type	Hamstring contractures, Achilles tendon contracture, Respiratory insufficiency due to muscle weak...	OMIM:310200
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Arthritis, Splenomegaly, Lymphopenia,...	OMIM:616100
Autosomal Recessive Cutis Laxa Type 1	Pneumothorax, Emphysema, Pathologic fracture, Inguinal hernia, Respiratory insufficiency, Recurre...	ORPHA:90349
Alfadhel Syndrome	Joint hypermobility, Retrognathia, Talipes equinovarus	OMIM:620655
Nivelon-Nivelon-Mabille Syndrome	Bell-shaped thorax, Distal clavicular thinning, Narrow chest, Short metacarpal, Micromelia, Short...	OMIM:600092
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy...	ORPHA:39041
Neu-Laxova Syndrome	Rickets, Retrognathia, Osteopenia, Osteomalacia, Osteoporosis, Micromelia, Spina bifida, Microgna...	ORPHA:2671
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Splenomegaly, Hepatomegaly	OMIM:235555
Orofaciodigital Syndrome Xvi	Inguinal hernia, Retrognathia, Postaxial hand polydactyly, Postaxial foot polydactyly	OMIM:617563
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Retrognathia, Micrognathia, Prominent fingertip pads, Laryngotracheomalacia	ORPHA:480898
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Chole...	OMIM:610199
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Nephrocalcinosis, Splenom...	OMIM:616084
Mucopolysaccharidosis Type 2, Attenuated Form	Diaphyseal undertubulation, Inguinal hernia, Arthritis, Temporomandibular joint ankylosis, Limita...	ORPHA:217093
Auriculocondylar Syndrome 3	Retrognathia, Micrognathia	OMIM:615706
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ...	ORPHA:99429
Tetrasomy 9P	Amelogenesis imperfecta, Clinodactyly of the 5th finger, Abnormal dental enamel morphology, Arthr...	ORPHA:3310
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Retrognathia, Atrophic scars, Camptodactyly, Bilateral talipes equinovarus, Slender finger, Long ...	OMIM:618343
Costello Syndrome	Pneumothorax, Limited elbow movement, Barrel-shaped chest, Tracheomalacia, Respiratory insufficie...	OMIM:218040
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Osteopetrosis, Diaphyseal sclerosis, Increased skull ossification, Craniofacial os...	OMIM:618476
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Inguinal hernia, Tracheomalacia, Omphalocele, Micrognathia, Nata...	ORPHA:2745
Orofaciodigital Syndrome Type 2	Cone-shaped epiphyses of the phalanges of the hand, Taurodontia, Postaxial hand polydactyly, Talo...	ORPHA:2751
Gray Platelet Syndrome	Myelofibrosis, Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
Congenital Disorder Of Glycosylation, Type Iib	Retrognathia, Overlapping fingers, Hand clenching, Thoracic scoliosis, Recurrent fractures	OMIM:606056
Velocardiofacial Syndrome	Retrognathia, Inguinal hernia, Pulmonary artery atresia, Unilateral primary pulmonary dysgenesis,...	OMIM:192430
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Arthritis, Hepatocellular carcinoma, Testicular atrophy, Portal hyperten...	ORPHA:465508
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Death in childhood, Atelectasis, Respiratory insufficiency, Pectus excavatum, Pulmonary fibrosis,...	OMIM:618278
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly	OMIM:613027
Rajab Interstitial Lung Disease With Brain Calcifications 1	Rickets, Osteopenia, Abnormal pulmonary interstitial morphology, Reduced bone mineral density, Em...	OMIM:613658
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ovary, Ca...	ORPHA:432
Intellectual Developmental Disorder, Autosomal Recessive 45	Retrognathia	OMIM:615979
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Retrognathia	OMIM:619556
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, A...	OMIM:612783
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the...	OMIM:614841
22Q11.2 Deletion Syndrome	Abnormal lung lobation, Atelectasis, Inguinal hernia, Meningocele, Abnormal dental enamel morphol...	ORPHA:567
Orofaciodigital Syndrome Type 4	Retrognathia, Bilateral lung agenesis, Finger syndactyly, Postaxial hand polydactyly, Split hand,...	ORPHA:2753
Brittle Cornea Syndrome 2	Joint hypermobility, Recurrent fractures, Inguinal hernia, Umbilical hernia	OMIM:614170
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Spinocerebellar Ataxia Type 1	Respiratory failure	ORPHA:98755
Cranioectodermal Dysplasia 2	Polydactyly, Retrognathia, Rhizomelia, Narrow chest, Inguinal hernia, Short ribs, Postaxial hand ...	OMIM:613610
Marfan Syndrome	Pneumothorax, Retrognathia, Limited elbow extension, Emphysema, Hammertoe, Pectus carinatum, Inci...	OMIM:154700
Recurrent Respiratory Papillomatosis	Atelectasis, Tracheomalacia, Respiratory insufficiency, Abnormal lung morphology, Recurrent pneum...	ORPHA:60032
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Tricho-Dento-Osseous Syndrome	Increased bone mineral density	ORPHA:3352
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure	OMIM:619483
Pearson Syndrome	Hepatomegaly, Anemia, Pancytopenia, Lacticaciduria, Renal insufficiency, Renal cyst, Reticulocyto...	ORPHA:699
Autoimmune Hepatitis	Cirrhosis, Jaundice, Sclerosing cholangitis, Acute hepatitis, Arthritis, Fulminant hepatitis, Hep...	ORPHA:2137
Peters-Plus Syndrome	Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Short metacarpal, Pectus...	OMIM:261540
8P Inverted Duplication/Deletion Syndrome	Retrognathia, Abnormality of dental eruption, Clinodactyly of the 5th finger, Pectus excavatum, L...	ORPHA:96092
Car T Cell Therapy-Associated Cytokine Release Syndrome	Respiratory failure, Pleural effusion, Pulmonary edema	ORPHA:542323
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Neu-Laxova Syndrome 1	Rocker bottom foot, Radial deviation of finger, Intrauterine growth retardation, Clinodactyly, Sm...	OMIM:256520
Aspartylglucosaminuria	Inguinal hernia, Pectus carinatum, Mandibular prognathia, Arthritis, Joint stiffness, Carious tee...	ORPHA:93
Poikiloderma With Neutropenia	Retrognathia, Recurrent bronchopulmonary infections, Joint stiffness, Carious teeth, Micrognathia...	OMIM:604173
Intellectual Developmental Disorder, Autosomal Recessive 70	Retrognathia	OMIM:618402
Fraser Syndrome	Abnormal lung lobation, Encephalocele, Finger syndactyly, Abnormal rib morphology, Death in infan...	ORPHA:2052
Fanconi Anemia	Hypoplasia of the ulna, Abnormal thumb morphology, Aplasia/Hypoplasia of fingers, Abnormal femur ...	ORPHA:84
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Optic atrophy, Osteopenia, Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephro...	OMIM:617913
Mosaic Trisomy 9	Rocker bottom foot, Abnormal lung lobation, Limitation of joint mobility, Micromelia, Spina bifid...	ORPHA:99776
Mitochondrial Trifunctional Protein Deficiency	Respiratory insufficiency, Respiratory failure, Equinus calcaneus	ORPHA:746
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Renal tubular acidosis,...	ORPHA:264580
Zimmermann-Laband Syndrome 1	Spina bifida occulta, Delayed eruption of teeth, Hyperextensibility of the finger joints, Mandibu...	OMIM:135500
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, Recurrent urinary tract infections, Enuresis nocturna, Joint hypermobility, Cryp...	OMIM:615873
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Enlarged kidney, Ascites	OMIM:261740
Atypical Werner Syndrome	Renal neoplasm, Progressive clavicular acroosteolysis, Reduced bone mineral density, Osteolytic d...	ORPHA:79474
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Peritonitis, Chole...	ORPHA:131
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Umbilical hernia	ORPHA:90674
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia, Preaxial polydactyly, Anencephaly, Narrow chest, Short ribs, Mic...	OMIM:616546
Kinsship Syndrome	Polydactyly, Osteopenia, Fibular hypoplasia, Dislocated radial head, Mandibular prognathia, Death...	OMIM:619297
Trisomy 8P	Abnormal lung lobation, Clinodactyly of the 5th toe, Retrognathia, Clinodactyly of the 5th finger...	ORPHA:264450
Autosomal Recessive Malignant Osteopetrosis	Osteopetrosis, Hepatomegaly, Anemia, Lymphadenopathy, Optic nerve compression, Reduced bone miner...	ORPHA:667
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Retrognathia, Fused cervical vertebrae, Spina bifida occulta, Pectus excavatum, Sprengel anomaly	OMIM:619227
Radio-Tartaglia Syndrome	Retrognathia, Micrognathia, Tapered finger, Brachydactyly	OMIM:619312
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Retrognathia, Clinodactyly of the 5th finger, Tapered toe, Inguinal hernia, Rib fusion, Tapered f...	ORPHA:544488
Cog5-Cdg	Retrognathia, Genu valgum, Camptodactyly of finger, Intrauterine growth retardation, Finger clino...	ORPHA:263487
Dyschondrosteosis-Nephritis Syndrome	Ulnar bowing, Micromelia, Aplasia/Hypoplasia of the radius, Radial bowing, Intrauterine growth re...	ORPHA:1765
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary...	ORPHA:90033
Macrophage Activation Syndrome	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Thro...	ORPHA:158061
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Renal tubular acidosis, Myoglobinuria, H...	ORPHA:79240
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Reduced bone mineral density...	ORPHA:168558
Pontocerebellar Hypoplasia, Type 1F	Retrognathia	OMIM:619304
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat...	OMIM:613812
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Increased susceptibility to fractures, Abnormal bone ossification, Genu valgum, Reduced bone mine...	ORPHA:93315
Hypoglossia-Hypodactylia	Retrognathia, Micrognathia, Adactyly, Split hand	OMIM:103300
Hypotonia-Cystinuria Syndrome	Retrognathia	ORPHA:163690
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Retrognathia, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges ...	OMIM:619269
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Craniosynostosis, Hypoplasia of the zygomatic bone, Malar flattening, Umbilical hernia	ORPHA:1555
3-Methylglutaconic Aciduria Type 7	Pneumothorax, Respiratory failure	ORPHA:445038
Adult-Onset Still Disease	Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Leukocytosis, Bone marrow hypocellularity, Arth...	ORPHA:829
Developmental Delay, Dysmorphic Facies, And Brain Anomalies	Retrognathia, Mandibular prognathia	OMIM:620535
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory failure requiring assisted ventilation, Respiratory insufficiency, Respiratory insuff...	ORPHA:308552
Classical Ehlers-Danlos Syndrome	Osteopenia, Generalized joint hypermobility, Abnormality of the temporomandibular joint, Inguinal...	ORPHA:287
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Peters Plus Syndrome	Clinodactyly of the 5th finger, Rhizomelia, Spina bifida occulta, Inguinal hernia, Abnormal pulmo...	ORPHA:709
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Reduced bone mineral density...	ORPHA:289548
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory failure	OMIM:620166
Baraitser-Winter Syndrome 1	Duplication of phalanx of hallux, Retrognathia	OMIM:243310
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Retrognathia, Joint contracture of the 5th finger, 2-3 toe syndactyly, Prominent fingertip pads, ...	OMIM:620098
Snakebite Envenomation	Respiratory failure	ORPHA:449285
Van Der Woude Syndrome 2	Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit	OMIM:606713
Hennekam Syndrome	Retrognathia, Supernumerary tooth, Narrow chest, Delayed eruption of teeth, Finger syndactyly, Ch...	ORPHA:2136
Bamforth-Lazarus Syndrome	Retrognathia	ORPHA:1226
Specc1L-Related Hypertelorism Syndrome	Advanced eruption of teeth, Clinodactyly of the 5th finger, Finger syndactyly, Pectus excavatum, ...	ORPHA:1519
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Joint hypermobility, Retrognathia, Micrognathia	OMIM:617101
Osteogenesis Imperfecta, Type Xx	Retrognathia, Narrow chest, Asymmetry of the thorax, Mandibular prognathia, Multiple prenatal fra...	OMIM:618644
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Clinodactyly of the 5th finger, Short middle phalanx of the 5th finge...	ORPHA:319675
Schisis Association	Congenital diaphragmatic hernia, Anencephaly, Encephalocele, Omphalocele, Micromelia, Spina bifida	ORPHA:63862
Combined Oxidative Phosphorylation Deficiency 5	Retrognathia, Death in infancy	OMIM:611719
Orofaciodigital Syndrome Xix	Retrognathia, Postaxial hand polydactyly, Type A brachydactyly, Carious teeth, Broad hallux, Toe ...	OMIM:620107
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Respiratory failure, Death in childhood, Cervical myelopathy, Myelopathy	OMIM:617186
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure	OMIM:618233
Bainbridge-Ropers Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Retrognathia, Death in infan...	OMIM:615485
Multiple Myeloma	Osteopenia, Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Nephrotic s...	ORPHA:29073
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Cardiac Diverticulum	Partial anomalous pulmonary venous return, Diastasis recti, Pulmonary artery hypoplasia, Pulmonar...	ORPHA:1686
Restrictive Dermopathy 1	Rocker bottom foot, Temporomandibular joint ankylosis, Overtubulated long bones, Intrauterine gro...	OMIM:275210
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Myelomeningocele, Cutaneous finger syndactyly, Ap...	OMIM:219000
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Respiratory insufficiency, Delayed eruption o...	ORPHA:87
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Retrognathia, Camptodactyly, Carious teeth, Overlapping toe, Dental malocclusion	ORPHA:363444
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
Carey-Fineman-Ziter Syndrome 1	Retrognathia, Respiratory insufficiency, Micrognathia, Flexion contracture, Trismus, Tapered fing...	OMIM:254940
Martin-Probst Syndrome	Micrognathia, Malar flattening, Dental malocclusion, Umbilical hernia	OMIM:300519
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Intrauterine growth retardation, Respiratory failure, Limb joint contracture	OMIM:620327
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Death in childhood	OMIM:619847
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent...	ORPHA:231226
Juvenile Sialidosis Type 2	Inguinal hernia, Umbilical hernia	ORPHA:93399
Brain-Lung-Thyroid Syndrome	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Recurrent pneumonia...	ORPHA:209905
Diamond-Blackfan Anemia 1	Hypoplasia of the radius, Retrognathia, Triphalangeal thumb, 11 pairs of ribs, Hypoplastic coccyg...	OMIM:105650
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Elbow flexion contracture, Death in infancy, Hip contracture, Micrognathia, Thoracic hypoplasia, ...	OMIM:300868
Thrombocytopenia-Absent Radius Syndrome	Abnormality of the kidney, Fused cervical vertebrae, Aplasia of the uterus, Thrombocytopenia, Axi...	ORPHA:3320
Mixed Connective Tissue Disease	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Arthritis, Joint stiffness, Leukopeni...	ORPHA:809
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Cryptorchidism, Micropenis, Patchy osteosclerosis	OMIM:241410
X-Linked Hypophosphatemia	Rickets, Reduced bone mineral density, Vertebral hyperostosis, Renal phosphate wasting, Hypocalci...	ORPHA:89936
Mucopolysaccharidosis Type 2	Hip osteoarthritis, Inguinal hernia, Flexion contracture of digit, Temporomandibular joint ankylo...	ORPHA:580
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Absent tibia, My...	ORPHA:93322
Prader-Willi Syndrome Due To Translocation	Retrognathia, Clinodactyly of the 5th finger, Short foot, Bilateral talipes equinovarus, Carious ...	ORPHA:177907
Charge Syndrome	Polydactyly, Abnormal tibia morphology, Clinodactyly of the 5th finger, Delayed eruption of teeth...	ORPHA:138
Ehlers-Danlos Syndrome, Vascular Type	Hypermobility of distal interphalangeal joints, Repeated pneumothoraces, Pectus excavatum, Cigare...	OMIM:130050
Frank-Ter Haar Syndrome	Osteopenia, Flared metaphysis, Wide anterior fontanel, Broad clavicles, Short long bone, Bowing o...	OMIM:249420
Van Der Woude Syndrome	Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip...	ORPHA:888
Tolchin-Le Caignec Syndrome	Clinodactyly of the 5th finger, Diastasis recti, Arachnodactyly, Micrognathia, Umbilical hernia	OMIM:618971
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic steatosis	OMIM:618641
Down Syndrome	Clinodactyly of the 5th finger, Sandal gap, Brachydactyly, Umbilical hernia, Joint hypermobility	ORPHA:870
Mercury Poisoning	Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Hyperparathyroidism, Neonatal Severe	Polyuria, Hepatomegaly, Anemia, Hypercalciuria, Recurrent fractures, Hyperphosphaturia, Splenomeg...	OMIM:239200
Baraitser-Winter Syndrome 2	Retrognathia	OMIM:614583
Mosaic Trisomy 20	Retrognathia, Fused cervical vertebrae, Narrow chest, Craniofacial asymmetry, Micrognathia, Clino...	ORPHA:1724
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Abnormal lung lobation, Retrognathia, Pleural effusion, Diastasis recti, Pulmonary artery dilatat...	OMIM:265380
Williams Syndrome	Hypoplasia of penis, Joint stiffness, Nephrocalcinosis, Multiple renal cysts, Abnormal tubulointe...	ORPHA:904
Townes-Brocks Syndrome 2	Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia	OMIM:617466
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Retrognathia, Recurrent pneumonia, Recurrent aspiration pneumonia, Pectus excavatum	OMIM:300472
Marfan Syndrome	Osteopenia, Retrognathia, Limited elbow movement, Abnormal zygomatic bone morphology, Emphysema, ...	ORPHA:558
8Q24.3 Microdeletion Syndrome	Rocker bottom foot, Pectus excavatum, Cervical ribs, Intrauterine growth retardation, Short 5th f...	ORPHA:508488
8P11.2 Deletion Syndrome	Retinal dystrophy, Hypoplasia of penis, Azoospermia, Spherocytosis, Splenomegaly, Hypogonadism, C...	ORPHA:251066
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Aplasia of the vagina, Recurrent urinary tract infections, Aplasia of ...	OMIM:614527
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Abnormality of the kidney, Urinary incontinence, Bifid pen...	ORPHA:322
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Pneumothorax, Retrognathia, Inguinal hernia, Abnormality of connective tissue, Abnormal sternum m...	ORPHA:91387
Stüve-Wiedemann Syndrome	Abnormal metaphysis morphology, Osteopenia, Genu valgum, Trismus, Recurrent fractures, Elbow flex...	ORPHA:3206
Robinow Syndrome, Autosomal Dominant 3	Pulmonary artery atresia, Camptodactyly, Omphalocele, Broad thumb, Short phalanx of finger, Micro...	OMIM:616894
Oeis Complex	Epispadias, Ambiguous genitalia, male, Hydroureter, Duplicated collecting system, Vesicovaginal f...	OMIM:258040
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Retrognathia, Broad distal phalanx of finger, Genu valgum, Broad distal phalanx of the toes, Elbo...	OMIM:619194
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Decreased ...	ORPHA:231214
Menke-Hennekam Syndrome 1	Clinodactyly of the 5th finger, Sandal gap, Inguinal hernia, Umbilical hernia, Micrognathia, Broa...	OMIM:618332
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Hypoplastic vertebral bodies, Limb undergrowth, Thoracolumbar kyphosis, Coxa valga	OMIM:230600
Renal Hypodysplasia/Aplasia 1	Retrognathia, Pulmonary hypoplasia, Talipes equinovarus	OMIM:191830
Roberts Syndrome	Radial deviation of finger, Mesomelic arm shortening, Proximal placement of thumb, Sandal gap, Se...	ORPHA:3103
Autosomal Recessive Spastic Paraplegia Type 77	Retrognathia, Macrodontia of permanent maxillary central incisor, Hip dysplasia	ORPHA:466722
Boutonneuse Fever	Respiratory failure	ORPHA:83313
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Hepatosplenomegaly, Splenomegaly, Lipemia retinalis	OMIM:238600
Porphyria, Congenital Erythropoietic	Osteopenia, Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Thrombocytopenia, Splenomegaly, Os...	OMIM:263700
Rubinstein-Taybi Syndrome 1	Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Pro...	OMIM:180849
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Flexion contracture of toe, Lymphadenopathy, Joint contracture of the 5th finger, A...	OMIM:602782
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Thrombocytopenia, Splenomegaly, Flexion contrac...	OMIM:617591
Rhyns Syndrome	Osteopenia, Short long bone, Osteoporosis, Radial bowing, Brachydactyly, Short femoral neck	OMIM:602152
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis, Lipemia retinalis	OMIM:615947
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Metaphyseal chondromatosis of femur, Retrognathia, Abnormal bone ossification, Multiple joint con...	ORPHA:99646
Ablepharon Macrostomia Syndrome	Omphalocele, Hypoplasia of the maxilla, Camptodactyly of finger, Umbilical hernia, Toe syndactyly...	ORPHA:920
Cystinosis, Nephropathic	Generalized aminoaciduria, Retinopathy, Splenomegaly, Stage 5 chronic kidney disease, Rickets, Ne...	OMIM:219800
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hyperextensible hand joints, Emphysema, Joint hypermobility, Slender long bone, Hyperextensibilit...	ORPHA:500150
Opitz Gbbb Syndrome	Wide anterior fontanel, Inguinal hernia, Umbilical hernia	OMIM:300000
Bohring-Opitz Syndrome	Retrognathia, Fixed elbow flexion, Metacarpophalangeal joint contracture, Limitation of joint mob...	ORPHA:97297
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Chromosome 13Q14 Deletion Syndrome	Clinodactyly of the 5th finger, Inguinal hernia, Micrognathia, Umbilical hernia, Overlapping toe,...	OMIM:613884
Microphthalmia, Syndromic 2	Supernumerary tooth, 2-3 toe cutaneous syndactyly, Hammertoe, Sandal gap, Delayed eruption of tee...	OMIM:300166
Rabin-Pappas Syndrome	Retrognathia, Tracheomalacia, Mandibular prognathia, Micrognathia, Malar flattening	OMIM:620155
Chediak-Higashi Syndrome	Jaundice, Neutropenia, Hemophagocytosis, Hepatomegaly, Anemia, Lymphadenopathy, Leukopenia, Splen...	OMIM:214500
Desmosterolosis	Ambiguous genitalia, male, Generalized osteosclerosis, Arthrogryposis multiplex congenita, Ambigu...	OMIM:602398
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Retrognathia, 2-3 toe cutaneous syndactyly, Long fingers, Micrognathia, Down-sloping shoulders	OMIM:301091
Infantile Systemic Hyalinosis	Osteopenia, Osteoporosis, Micromelia, Joint stiffness, Camptodactyly of finger, Short palm, Brach...	ORPHA:2176
Dihydropyrimidine Dehydrogenase Deficiency	Respiratory failure requiring assisted ventilation, Retrognathia, Delayed eruption of teeth, Micr...	ORPHA:1675
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Micromelia, Broad hallux, Syndactyly, Brachydactyly, Hypoplasia of the zygomatic bone	OMIM:614800
Cutis Laxa, Autosomal Recessive, Type Iid	Pneumothorax, Retrognathia, Inguinal hernia, Camptodactyly, Reduced subcutaneous adipose tissue, ...	OMIM:617403
Familial Mediterranean Fever	Hepatomegaly, Arthritis, Leukocytosis, Nephrotic syndrome, Neutrophilia, Splenomegaly, Peritoniti...	OMIM:249100
Triosephosphate Isomerase Deficiency	Respiratory insufficiency, Death in adolescence, Death in infancy, Respiratory insufficiency due ...	OMIM:615512
Camptodactyly Syndrome, Guadalajara, Type Iii	Retrognathia, Spina bifida occulta, Absent phalangeal crease, Camptodactyly, Malar flattening, Jo...	OMIM:611929
Thyroid Hemiagenesis	Umbilical hernia	ORPHA:95719
Mogs-Cdg	Pulmonary edema, Retrognathia, Overlapping fingers, Thoracic scoliosis	ORPHA:79330
Viss Syndrome	Rocker bottom foot, Pneumothorax, Pulmonary artery aneurysm, Genu valgum, Emphysema, Retrognathia...	OMIM:619472
Pseudohypoparathyroidism Type 1A	Reduced bone mineral density, Low urinary cyclic AMP response to PTH administration, Increased bo...	ORPHA:79443
Microlissencephaly-Micromelia Syndrome	Adducted thumb, 11 pairs of ribs, Micromelia	ORPHA:50810
D-Bifunctional Protein Deficiency	Osteopenia, Retrognathia, Hammertoe, Split hand, Pectus excavatum, Micrognathia, Thoracic hypopla...	OMIM:261515
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Abnormal metaphysis morphology, Absent or minimally ossified vertebral bodies, Narrow chest, Abno...	ORPHA:93271
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Respiratory insufficiency, Respiratory failure	OMIM:613845
Diets-Jongmans Syndrome	Congenital diaphragmatic hernia, Inguinal hernia, Umbilical hernia, Joint hypermobility, Hip dysp...	OMIM:618846
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in childhood	OMIM:220110
Treacher-Collins Syndrome	Retrognathia, Encephalocele, Respiratory insufficiency, Abnormal dental enamel morphology, Abnorm...	ORPHA:861
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Sanjad-Sakati Syndrome	Cryptorchidism, Patchy osteosclerosis, Hypoplasia of penis	ORPHA:2323
Loeys-Dietz Syndrome 1	Retrognathia, Pulmonary artery aneurysm, Inguinal hernia, Abnormal sternum morphology, Pectus car...	OMIM:609192
Marden-Walker Syndrome	Retrognathia, Pectus carinatum, Pectus excavatum, Metatarsus adductus, Camptodactyly of finger, A...	ORPHA:2461
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Short finger, Delayed proximal femoral epiphyseal ossification, Hand polydactyly, Umbilical herni...	ORPHA:226307
Pseudohypoparathyroidism Type 1C	Increased bone mineral density, Low urinary cyclic AMP response to PTH administration, Ectopic os...	ORPHA:79444
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Respiratory failure, Anomalous pulmonary veno...	ORPHA:555874
Combined Oxidative Phosphorylation Defect Type 23	Respiratory failure	ORPHA:444013
Traboulsi Syndrome	Retrognathia, Short finger, Pectus excavatum, Arachnodactyly, Broad hallux, Malar flattening, Joi...	OMIM:601552
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Retrognathia, Long clavicles, Fused cervical vertebrae, Inguinal hernia, Thin ribs, Coronal crani...	ORPHA:83617
Hardikar Syndrome	Intrahepatic bile duct dilatation, Cholestasis, Prolonged neonatal jaundice, Splenomegaly, Hypers...	OMIM:301068
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Congenital diaphragmatic hernia, Retrognathia, Partial anomalous pulmonary venous return, Tapered...	OMIM:301044
Trichothiodystrophy 8, Nonphotosensitive	Retrognathia	OMIM:619691
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Bilateral talipes equinovarus, Micrognathia, Pulmonary hypoplasia, Knee flexion contracture, Bron...	OMIM:619708
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Sandal gap, Recurrent bronchitis, Mandibular prognathia, Toe clinodactyly, Long fingers, Recurren...	OMIM:620330
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Reduced ...	ORPHA:90796
Coffin-Lowry Syndrome	Inguinal hernia, Bifid sternum, Hyperextensibility of the finger joints, Narrow iliac wing, Pectu...	OMIM:303600
Van Esch-O'Driscoll Syndrome	Retrognathia, Clinodactyly of the 5th finger, Spina bifida occulta, Pulmonary artery stenosis, Sh...	OMIM:301030
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Osteomyelitis, Splenomegaly, Impaire...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Osteomyelitis, Splenomegaly, Impaire...	OMIM:233710
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Proximal placement of thumb, Mesomelia, Intrauterine growth reta...	ORPHA:818
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Umbilical hernia, Hip dislocation, Rhizomelia, Inguinal hernia, ...	OMIM:601803
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Retrognathia, Inguinal hernia, Tracheomalacia, Pectus excavatum,...	ORPHA:96121
Combined Oxidative Phosphorylation Deficiency 3	Death in childhood, Respiratory insufficiency, Death in infancy, Intrauterine growth retardation,...	OMIM:610505
Severe Generalized Junctional Epidermolysis Bullosa	Pneumothorax, Osteoporosis, Enamel hypoplasia, Abnormal fingertip morphology, Mitten deformity, P...	ORPHA:79404
Short Stature, Microcephaly, And Endocrine Dysfunction	Intrauterine growth retardation, Limb undergrowth, Clinodactyly, Inguinal hernia	OMIM:616541
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory insufficiency, Respiratory failure	OMIM:609015
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Retrognathia, Clinodactyly of the 5th finger, Proximal placement of thumb, Malar flattening, Addu...	OMIM:604314
Nablus Mask-Like Facial Syndrome	Retrognathia, Sandal gap, Short hallux, Camptodactyly, Hypoplasia of the maxilla, Clinodactyly, C...	OMIM:608156
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Arthritis, Episodic hemolytic anemia, Reticulo...	OMIM:210250
Au-Kline Syndrome	Retrognathia, Clinodactyly of the 5th finger, Craniosynostosis, Lipomyelomeningocele, Pectus exca...	OMIM:616580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retrognathia, Death in childhood, Encephalocele, Death in infancy, Adducted thumb	OMIM:614643
Glycogen Storage Disease Due To Acid Maltase Deficiency	Atelectasis, Respiratory insufficiency, Osteoporosis, Respiratory insufficiency due to muscle wea...	ORPHA:365
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Narrow chest, Bowed humerus, Short long bone, Short humerus, Thoracic hypoplasia, Brachydactyly, ...	OMIM:619479
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Inguinal hernia, Redundant umbilical skin, Atrophic scars, Large joint hypermobilty, ...	OMIM:614557
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Cystic angiomatosis of bone, Acute pancreatitis, N...	OMIM:608594
Leigh Syndrome	Intrauterine growth retardation, Respiratory failure, Multiple joint contractures	ORPHA:506
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema	OMIM:210050
Bladder Exstrophy	Umbilical hernia, Omphalocele, Inguinal hernia, Bladder exstrophy	ORPHA:93930
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Osteomyelitis, Splenomegaly, Impaire...	OMIM:233690
Yunis-Varon Syndrome	Rocker bottom foot, Absent sternal ossification, Abnormal finger morphology, Short ribs, Decrease...	ORPHA:3472
Lysinuric Protein Intolerance	Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemia, Oroticaciduria, Recurrent fractures, Osteop...	OMIM:222700
Pycnodysostosis	Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand	OMIM:265800
Fraser Syndrome 2	Short thorax, Respiratory failure, Cutaneous syndactyly	OMIM:617666
Nocardiosis	Pneumothorax, Emphysema, Pleuritis, Pleural effusion, Cellulitis, Pneumonia, Respiratory failure,...	ORPHA:31204
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Arthritis, Leukocytosis, Ascites, Nephrotic syndrome, Nephrocalcin...	ORPHA:342
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Retrognathia	ORPHA:280679
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia...	OMIM:278850
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Congenital Tracheomalacia	Pneumothorax, Emphysema, Tracheomalacia, Respiratory insufficiency, Tracheobronchomalacia, Bronch...	ORPHA:95430
Heart Defects, Congenital, And Other Congenital Anomalies	Congenital diaphragmatic hernia, Cervical ribs, Inguinal hernia, Aplasia of the left hemidiaphrag...	OMIM:600001
Deeah Syndrome	Retrognathia, Death in childhood, Death in adolescence, Death in infancy, Intrauterine growth ret...	OMIM:619004
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia, Hydronephrosis, Block ve...	OMIM:271520
Infantile Krabbe Disease	Respiratory failure	ORPHA:206436
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure	ORPHA:88618
Trisomy 10P	Retrognathia, Ulnar deviated club hands, Thumb contracture, Camptodactyly, Micrognathia, Short to...	ORPHA:171929
Poliomyelitis	Respiratory failure requiring assisted ventilation, Respiratory failure, Stiff neck	ORPHA:2912
Charge Syndrome	Hypoplasia of the ulna, Pulmonary artery atresia, Absent tibia, Hand monodactyly, Abnormal rib mo...	OMIM:214800
Nijmegen Breakage Syndrome	Retrognathia, Recurrent pneumonia, Recurrent sinopulmonary infections, Respiratory failure, Recur...	ORPHA:647
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Retrognathia, Pectus excavatum	ORPHA:52055
Primary Sclerosing Cholangitis	Osteopenia, Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis,...	ORPHA:171
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Cystic angiomatosis of bone, Acute pancreatitis, N...	OMIM:269700
Neuroocular Syndrome	Retrognathia, Clinodactyly of the 5th finger, Hyperextensibility of the finger joints, Prominent ...	OMIM:619539
Early Infantile Epileptic Encephalopathy	Broad finger, Short finger, Broad phalanx of the toes, Umbilical hernia	ORPHA:1934
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Retrognathia, Short long bone	OMIM:301110
Brucellosis	Intrarenal abscess, Leukopenia, Splenomegaly, Chorioretinitis, Septic arthritis, Thrombocytosis, ...	ORPHA:1304
Isolated Biliary Atresia	Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proliferation, Atr...	ORPHA:30391
Hermansky-Pudlak Syndrome 10	Retrognathia, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:617050
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Death in childhood, Inguinal hernia, Unilateral chest hypoplasia, Postaxial hand polydactyly, Ect...	OMIM:308205
Wilson Disease	Portal fibrosis, Ascites, Splenomegaly, Joint hypermobility, Hepatic steatosis, Jaundice, Hepatoc...	OMIM:277900
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Retrognathia, Chylothorax, Pectus excavatum, Joint hypermobility, Finger joint hypermobility	OMIM:613563
Amyotrophic Lateral Sclerosis	Respiratory failure	ORPHA:803
Malignant Atrophic Papulosis	Respiratory failure, Pleural effusion	ORPHA:679
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Retrognathia, Ankle flexion contracture, Knee flexion contracture, 4-5 finger syndactyly, Camptod...	ORPHA:468631
Peripartum Cardiomyopathy	Respiratory failure	ORPHA:563
Geleophysic Dysplasia 1	Osteopenia, Short long bone, Short foot, Pectus excavatum, Irregular capital femoral epiphysis, W...	OMIM:231050
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Supernumerary tooth, Aplasia of the epiglottis, Narrow chest, Short clavicles, Short ribs, Short ...	OMIM:617088
Combined Oxidative Phosphorylation Deficiency 37	Respiratory insufficiency, Respiratory failure	OMIM:618329
Monosomy 22Q13.3	Clinodactyly of the 5th finger, Large hands, Malar flattening, Umbilical hernia, Dental malocclusion	ORPHA:48652
Microcephalic Primordial Dwarfism, Montreal Type	Retrognathia	OMIM:210700
Digeorge Syndrome	Atelectasis, Intervertebral disk degeneration, Inguinal hernia, Femoral hernia, Micrognathia, Rec...	OMIM:188400
Isolated Cleft Lip	Supernumerary maxillary incisor, Talipes equinovarus, Umbilical hernia	ORPHA:199302
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Hidrotic Ectodermal Dysplasia, Halal Type	Retrognathia	ORPHA:1809
Baraitser-Winter Cerebrofrontofacial Syndrome	Joint stiffness, Duplication of thumb phalanx, Micrognathia, Retrognathia	ORPHA:2995
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Respiratory failure	ORPHA:3240
Townes-Brocks Syndrome 1	Clinodactyly of the 5th toe, Triphalangeal thumb, Short metatarsal, Pseudoepiphyses of second met...	OMIM:107480
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema	OMIM:618307
Bangstad Syndrome	Retrognathia	OMIM:210740
Blau Syndrome	Anemia, Lymphadenopathy, Nephropathy, Limitation of joint mobility, Abnormal optic nerve morpholo...	ORPHA:90340
Reactive Arthritis	Respiratory insufficiency, Arthritis, Joint stiffness, Enthesitis, Abnormal pleura morphology, Pu...	ORPHA:29207
Camurati-Engelmann Disease	Optic atrophy, Hepatomegaly, Anemia, Optic nerve compression, Hyperostosis, Limitation of joint m...	ORPHA:1328
Monosomy 22	Retrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Clubbing, Contractures of the la...	ORPHA:96123
Fanconi Anemia, Complementation Group L	Anemia, Unilateral renal agenesis, Aplasia of the uterus, Bone marrow hypocellularity, Renal hypo...	OMIM:614083
Intellectual Developmental Disorder, Autosomal Dominant 73	Limited elbow extension, Retrognathia, Clinodactyly of the 5th finger, Narrow chest, Inguinal her...	OMIM:620450
Williams-Beuren Syndrome	Osteopenia, Clinodactyly of the 5th finger, Inguinal hernia, Dental malocclusion, Pectus excavatu...	OMIM:194050
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Congenital diaphragmatic hernia, Cervical ribs, Pulmonary artery stenosis, Umbilical hernia, Intr...	ORPHA:2255
Saethre-Chotzen Syndrome	Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Absent first metatarsal, Abnormal pe...	OMIM:101400
Vascular Ehlers-Danlos Syndrome	Pneumothorax, Pulmonary artery aneurysm, Osteolysis, Inguinal hernia, Respiratory insufficiency, ...	ORPHA:286
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:153670
Hypocomplementemic Urticarial Vasculitis	Pleural effusion, Arthritis, Emphysema	ORPHA:36412
Treacher Collins Syndrome 2	Retrognathia, Fusion of middle ear ossicles, Micrognathia, Malar flattening, Microretrognathia, H...	OMIM:613717
Listeriosis	Stiff neck, Miscarriage, Septic arthritis, Pneumonia, Respiratory failure, Osteomyelitis	ORPHA:533
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Umbilical hernia, Omphalocele, Death in infancy	ORPHA:2241
Microphthalmia With Linear Skin Defects Syndrome	Congenital diaphragmatic hernia, Retrognathia, Abnormal dental enamel morphology, Mandibular apla...	ORPHA:2556
Moderate Hemophilia A	Limitation of joint mobility, Synovitis, Hip contracture, Joint hemorrhage, Cartilage destruction	ORPHA:169805
Alg11-Cdg	Retrognathia, Abnormal adipose tissue morphology	ORPHA:280071
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple...	ORPHA:567983
Intellectual Developmental Disorder, Autosomal Dominant 68	Retrognathia, Joint contracture of the 5th finger, 2-3 toe syndactyly, Broad hallux, Intrauterine...	OMIM:619934
Thrombocytopenia-Absent Radius Syndrome	Renal malrotation, Ureteral duplication, Anemia, Fused cervical vertebrae, Vesicoureteral reflux,...	OMIM:274000
Duplication Of The Pituitary Gland	Supernumerary tooth, Retrognathia, Abnormality of joint mobility, Encephalocele, Thoracic scoliosis	ORPHA:314621
Branchiootic Syndrome 1	Retrognathia, Branchial fistula	OMIM:602588
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Respiratory failure, Pneumonia, Respiratory t...	ORPHA:79138
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Adducted thumb, Retrognathia	ORPHA:293725
Hutchinson-Gilford Progeria Syndrome	Retrognathia, Reduced bone mineral density, Limitation of movement at ankles, Joint stiffness, Li...	ORPHA:740
Trichothiodystrophy 1, Photosensitive	Absence of subcutaneous fat, Retrognathia, Flexion contracture, Death in infancy	OMIM:601675
Degcags Syndrome	Polydactyly, Retrognathia, Pneumonia, Genu valgum, Osteopenia, Craniosynostosis, Tracheomalacia, ...	OMIM:619488
Autosomal Dominant Cutis Laxa	Osteopenia, Emphysema, Inguinal hernia, Joint hypermobility, Bronchiolitis, Bronchiectasis, Adduc...	ORPHA:90348
C Syndrome	Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Dislocated radial head, Limitati...	ORPHA:1308
Alpha-1-Antitrypsin Deficiency	Bronchiectasis, Bronchitis, Panniculitis, Emphysema	ORPHA:60
Webb-Dattani Syndrome	Retrognathia, Hip dislocation	OMIM:615926
Genetic Transient Congenital Hypothyroidism	Umbilical hernia	ORPHA:226316
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Osteomyelitis, Splenomegaly...	OMIM:306400
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Polydactyly, Short 5th toe, 2-4 toe cutaneous syndactyly, Supernumerary tooth, Retrognathia, Ingu...	ORPHA:268261
Sotos Syndrome	Ankle flexion contracture, Small cell lung carcinoma, Inguinal hernia, Craniosynostosis, Bilatera...	ORPHA:821
Chromosome 14Q11-Q22 Deletion Syndrome	Inguinal hernia, Hip subluxation, Mesomelia, Micrognathia	OMIM:613457
Sclerosteosis 1	Optic atrophy, Papilledema, Cortically dense long tubular bones, Facial palsy secondary to crania...	OMIM:269500
Smith-Lemli-Opitz Syndrome	Abnormal lung lobation, 2-3 toe cutaneous syndactyly, Hip subluxation, Proximal placement of thum...	OMIM:270400
Hypermobile Ehlers-Danlos Syndrome	Inguinal hernia, Joint hypermobility, Aplasia/Hypoplasia of the abdominal wall musculature, Genit...	ORPHA:285
Yunis-Varon Syndrome	Absent sternal ossification, Flat acetabular roof, Decreased skull ossification, Hypoplastic faci...	OMIM:216340
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Splenomegaly, Pancytopenia	OMIM:231005
Congenital Disorder Of Glycosylation, Type 2V	Retrognathia, Talipes equinovarus	OMIM:619493
Slc39A8-Cdg	Osteopenia, Elbow flexion contracture, Limb undergrowth, Cutaneous syndactyly of toes, Knee flexi...	ORPHA:468699
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Death in childhood, Patent urachus	OMIM:618252
Netherton Syndrome	Recurrent respiratory infections, Emphysema	ORPHA:634
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Mitochondrial Complex I Deficiency, Nuclear Type 1	Respiratory insufficiency, Respiratory failure, Death in infancy	OMIM:252010
T-Cell Immunodeficiency With Thymic Aplasia	Bronchiectasis, Recurrent pneumonia, Emphysema, Recurrent bronchopulmonary infections	OMIM:242700
Cleidocranial Dysplasia 1	Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac...	OMIM:119600
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, Osteoporosis, ...	ORPHA:77293
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Mediastinal lymphadenopathy, Pancytopenia, Hypercalciuria, Bone cyst, Arthritis, Ch...	OMIM:181000
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Emphysema, Pulmonary fibrosis	OMIM:620365
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus, ...	ORPHA:457284
Hepatoerythropoietic Porphyria	Osteopenia, Red urine, Purple urine, Red-brown urine, Osteoporosis, Splenomegaly, Osteolysis, Ery...	ORPHA:95159
Immunodeficiency 89 And Autoimmunity	Bronchiectasis, Pleural thickening, Recurrent lower respiratory tract infections, Pulmonary bulla	OMIM:619632
Abetalipoproteinemia	Osteopenia, Respiratory failure, Talipes equinovarus	ORPHA:14
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Retrognathia, Mandibular prognathia, Prominent fingertip pads, Reduced subcutaneous adipose tissu...	OMIM:619950
3-Methylglutaconic Aciduria, Type Viii	Respiratory failure, Respiratory arrest, Neonatal death, Death in infancy	OMIM:617248
Trichothiodystrophy 4, Nonphotosensitive	Hypoplasia of teeth, Retrognathia	OMIM:234050
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Retrognathia, Clinodactyly of the 5th finger, Camptodactyly of finger, Micrognathia, Joint hyperm...	ORPHA:3047
Hemorrhagic Fever-Renal Syndrome	Pneumonia, Respiratory failure, Pleural effusion, Pulmonary edema	ORPHA:340
Liver Disease, Severe Congenital	Pulmonary edema, Inguinal hernia, Micrognathia, Umbilical hernia, Pneumonia, Joint hypermobility,...	OMIM:619991
Niemann-Pick Disease Type C	Respiratory insufficiency, Aspiration pneumonia, Abnormal lung morphology, Aplasia/Hypoplasia of ...	ORPHA:646
Acrofacial Dysostosis, Cincinnati Type	Retrognathia, Pulmonary artery aneurysm, Clinodactyly of the 5th finger, Inguinal hernia, Flared ...	OMIM:616462
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Increased bone mineral density, Coarse metaphyseal trabecularization, Thickened cortex of long bones	OMIM:620558
Cog1-Cdg	Osteopenia, Rhizomelia, Talipes equinovarus, Short long bone, Posterior rib gap, Flat acetabular ...	ORPHA:263508
X-Linked Intellectual Disability, Seemanova Type	Retrognathia	ORPHA:85323
Wiedemann-Rautenstrauch Syndrome	Lipoatrophy, Retrognathia, Severe intrauterine growth retardation, Short humerus, Hypoplastic ver...	ORPHA:3455
Cornelia De Lange Syndrome	Congenital diaphragmatic hernia, Short 1st metacarpal, Proximal placement of thumb, Clinodactyly ...	ORPHA:199
Craniosynostosis 4	Retrognathia, Lambdoidal craniosynostosis, Bicoronal synostosis, Coronal craniosynostosis, Malar ...	OMIM:600775
Tuberous Sclerosis Complex	Respiratory failure, Pulmonary lymphangiomyomatosis, Shagreen patch, Respiratory tract infection	ORPHA:805
Fabry Disease	Abnormal femur morphology, Emphysema, Reduced bone mineral density, Respiratory insufficiency, Ar...	ORPHA:324
Okamoto Syndrome	Urinary incontinence, Ureteropelvic junction obstruction, Hydronephrosis, Splenomegaly, Bifid ute...	ORPHA:2729
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Intrauterine growth retardation, Retrognathia, Reduced bone mineral density	OMIM:620510
Pontocerebellar Hypoplasia Type 7	Optic atrophy, Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of th...	ORPHA:284339
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Retrognathia, Short metatarsal, Short metacarpal, Malar flattening, Brachydactyly, Short distal p...	OMIM:617157
White-Kernohan Syndrome	Joint hypermobility, Retrognathia, Hip dysplasia	OMIM:619426
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Renal salt wasting, Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long...	ORPHA:90794
Bor Syndrome	Retrognathia, Branchial cyst	ORPHA:107
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Retrognathia	ORPHA:457351
Cutis Laxa, Autosomal Dominant 1	Emphysema, Inguinal hernia, Uterine prolapse, Bronchiectasis, Peripheral pulmonary artery stenosis	OMIM:123700
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Abnormal cartilage morphology, Lipodystrophy, Multiple lipomas, Osteol...	ORPHA:2396
Lymphangioleiomyomatosis	Pneumothorax, Atelectasis, Emphysema, Recurrent respiratory infections, Chylothorax, Shagreen pat...	ORPHA:538
Steinert Myotonic Dystrophy	Respiratory failure requiring assisted ventilation, Respiratory insufficiency, Respiratory insuff...	ORPHA:273
Lethal Omphalocele-Cleft Palate Syndrome	Retrognathia, Omphalocele	ORPHA:2736
Common Variable Immunodeficiency	Emphysema, Recurrent bronchitis, Bronchiectasis, Pneumonia, Recurrent respiratory infections	ORPHA:1572
Hydrolethalus Syndrome 1	Hypospadias, Abnormal vagina morphology, Accessory spleen, Bifid uterus, Hydronephrosis	OMIM:236680
Neurocardiofaciodigital Syndrome	Polydactyly, Retrognathia, Syndactyly	OMIM:619869
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Retrognathia, Aspiration pneumonia, Osteoporosis, Uterine prolapse, Hip dysplasia, Jo...	ORPHA:438213
Wolf-Hirschhorn Syndrome	Abnormal sternal ossification, Hypospadias, Accessory spleen, Aplasia of the uterus, Precocious p...	OMIM:194190
Microphthalmia, Syndromic 6	Polydactyly, Retrognathia, Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Finger sy...	OMIM:607932
Thyroid Ectopia	Umbilical hernia	ORPHA:95712
Bardet-Biedl Syndrome	Retrognathia, Finger syndactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Joint hypermob...	ORPHA:110
Hypothyroidism, Congenital, Nongoitrous, 2	Umbilical hernia	OMIM:218700
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Craniosynostosis, Bifid uterus, Abnormal reproductive system morphology	ORPHA:1521
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormality of the pulmonary artery, Lipoatrophy, Emphysema	ORPHA:363618
Posterior Urethral Valve	Retrognathia	ORPHA:93110
Branchiooculofacial Syndrome	Clinodactyly of the 5th finger, Proximal placement of thumb, Branchial anomaly, Elbow flexion con...	OMIM:113620
Sarcoidosis	Pneumothorax, Scarring, Emphysema, Chylothorax, Pleural effusion, Abnormal lung morphology, Abnor...	ORPHA:797
Alkaptonuria	Reduced bone mineral density, Arthritis, Joint stiffness, Calcification of cartilage, Osteoarthri...	ORPHA:56
Norrie Disease	Abnormal chorioretinal morphology, Optic atrophy, Abnormal vitreous humor morphology, Retinal det...	ORPHA:649
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Hypospadias, Anteriorly displaced genitalia, Elbow flexion contracture, Aplasia of the uterus, De...	OMIM:276820
Limb-Mammary Syndrome	Aplasia of the uterus, Aplasia of the ovary	ORPHA:69085
Loeys-Dietz Syndrome	Joint hypermobility, Craniosynostosis, Uterine rupture, Camptodactyly of finger	ORPHA:60030
Pmm2-Cdg	Abnormal subcutaneous fat tissue distribution, Retrognathia, Osteopenia, Mandibular prognathia, A...	ORPHA:79318
Steel Syndrome	Limited elbow extension, Clinodactyly of the 5th finger, Dislocated radial head, Coxa vara, Carpa...	OMIM:615155

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 Col27a1

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 Col27a1.

No publications found that use IMPC mice or data for Col27a1.

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MGI Allele	Allele Type	Produced
Col27a1^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Col27a1^{tm36205(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Col27a1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Col27a1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Col27a1^{tm36205(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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: Col27a1 MGI:2672118

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Morphology Embryo E14.5-E15.5

X-ray

X-ray

MicroCT E14.5-E15.5

Human diseases caused by Col27a1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data