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Gene: Pth1r MGI:97801

Gene Summary

Name:

parathyroid hormone 1 receptor

Synonyms:

PPR, PTH1R, Pthr1, PTH/PTHrP receptor, PTH-related peptide receptor

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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
increased total body fat amount	Pth1r^{tm1a(EUCOMM)Hmgu}	HET	Early adult	9.48×10^-05
preweaning lethality, complete penetrance	Pth1r^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	0.00
decreased bone mineral content	Pth1r^{tm1a(EUCOMM)Hmgu}	HET	Early adult	1.84×10^-06
decreased lean body mass	Pth1r^{tm1a(EUCOMM)Hmgu}	HET	Early adult	2.21×10^-05
increased grip strength	Pth1r^{tm1a(EUCOMM)Hmgu}	HET	Early adult	2.92×10^-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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DSS Histology

Images

8 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

20 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

Pth1r^{tm1a(EUCOMM)Hmgu}
HET, Male, WTSI

View all 94 images

Pth1r^{tm1a(EUCOMM)Hmgu}
HOM, Female, WTSI

Pth1r^{tm1a(EUCOMM)Hmgu}
HOM, Male, WTSI

Pth1r^{tm1a(EUCOMM)Hmgu}
abnormal cornea morphology, HET, Female, WTSI

Human diseases caused by Pth1r 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 Pth1r (7 diseases)
Human diseases predicted to be associated with Pth1r (1629 diseases)

The table below shows human diseases associated to Pth1r by orthology or direct annotation.

Disease	Matching phenotypes	Source
Blomstrand Lethal Chondrodysplasia	Short ribs, Short metacarpal, Mesomelia, Long philtrum, Abnormal epiphysis morphology, Aplastic c...	ORPHA:50945
Chondrodysplasia, Blomstrand Type	Stillbirth, Flared metaphysis, Generalized osteosclerosis, Short ribs, Micromelia, Micrognathia, ...	OMIM:215045
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hypoparathyroidism, Hip contracture, Hypercalcemia, Hypophosphatemia, Knee flexion co...	OMIM:156400
Ollier Disease	Abnormal metaphysis morphology, Micromelia, Joint stiffness, Abnormal cartilage morphology, Multi...	ORPHA:296
Eiken Syndrome	Fibular hypoplasia, Abnormal bone ossification, Cubitus valgus, Delayed epiphyseal ossification, ...	ORPHA:79106
Eiken Syndrome	Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a...	OMIM:600002
Failure Of Tooth Eruption, Primary	Hypodontia, Failure of eruption of permanent teeth, Persistence of primary teeth	OMIM:125350

The table below shows human diseases predicted to be associated to Pth1r by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Decreased circulating parathyroid hormone...	OMIM:618883
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Pseudohypoparath...	OMIM:203330
Hyperparathyroidism 1	Hypercalcemia, Primary hyperparathyroidism	OMIM:145000
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Hyperparathyroidism 4	Osteopenia, Parathyroid carcinoma, Hypercalcemia, Primary hyperparathyroidism	OMIM:617343
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Postnatal growth retardation, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Short lon...	OMIM:618728
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Parathyroid Carcinoma	Parathyroid carcinoma, Hypercalcemia, Hyperparathyroidism	OMIM:608266
Achondrogenesis, Type Ia	Hypoplastic sacrum, Abnormal hand bone ossification, Short ribs, Decreased skull ossification, Hy...	OMIM:200600
Lethal Osteosclerotic Bone Dysplasia	Retrognathia, Short nose, Gingival fibromatosis, Anteverted nares, Delayed cranial suture closure...	ORPHA:1832
Atelosteogenesis, Type Ii	Lacunar halos around chondrocytes, Stillbirth, Sandal gap, Bifid humerus, Respiratory insufficien...	OMIM:256050
Pseudohypoparathyroidism Type 2	Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Hypocalcemia, Pseudohypopa...	ORPHA:94090
Blomstrand Lethal Chondrodysplasia	Short ribs, Short metacarpal, Mesomelia, Long philtrum, Abnormal epiphysis morphology, Aplastic c...	ORPHA:50945
Raine Syndrome	Subperiosteal bone formation, Microdontia, Death in infancy, Wide mouth, Increased bone mineral d...	OMIM:259775
Metatropic Dysplasia	Narrow greater sciatic notch, Relatively short spine, Disproportionate short-limb short stature, ...	OMIM:156530
Familial Isolated Hyperparathyroidism	Osteopenia, Elevated circulating parathyroid hormone level, Primary hyperparathyroidism, Generali...	ORPHA:99879
Blue Diaper Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Hyperphosphatemia, Hypercalcemia,...	ORPHA:94086
Marshall-Smith Syndrome	Retrognathia, Short nose, Reduced bone mineral density, Slender long bone, Anteverted nares, Ging...	ORPHA:561
Hypocalcemia, Autosomal Dominant 2	Hypocalcemia, Abnormal blood phosphate concentration	OMIM:615361
Spondylometaphyseal Dysplasia, X-Linked	Short finger, Respiratory insufficiency, Hyperextensibility of the finger joints, Anteverted nare...	OMIM:313420
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Retrognathia, Thin vermilion border, Death in childhood, Anteverted nares, Protruding tongue, Bif...	OMIM:612938
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Short nose, Anteverted nares, Bronchiectasis, Sinusitis, Short stature, Micrognathia, Protruding ...	OMIM:242860
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Elevated circulating parathyroid hormone level, Hypophosphatemia, Osteopenia	OMIM:619073
17Q21.31 Microduplication Syndrome	Delayed puberty, Short nose, Clinodactyly of the 5th finger, Sandal gap, Short philtrum, Antevert...	ORPHA:217340
Ritscher-Schinzel Syndrome 2	Postnatal growth retardation, Convex nasal ridge, Clinodactyly of the 5th finger, Short philtrum,...	OMIM:300963
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal metaphysis morphology, Abnormal lung lobation, Retrognathia, Thin vermilion border, Abno...	ORPHA:2631
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Pseudohypoparath...	OMIM:603233
Chondrodysplasia With Joint Dislocations, Gpapp Type	Irregular epiphyses of the metacarpals, Short long bone, Short metacarpal, Patellar dislocation, ...	OMIM:614078
Hypophosphatemic Rickets And Hyperparathyroidism	Rickets, Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Parathyroid hy...	OMIM:612089
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemic seizures, Hypoparathyroidism, Hypocalcemia, Hyperphosphatemia, Decreased circulating...	OMIM:146200
Acrocallosal Syndrome	Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid distal phalanx of the thumb...	OMIM:200990
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost...	OMIM:241520
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal metaphysis morphology, Short nose, Thin vermilion border, Reduced bone mineral density, ...	ORPHA:2370
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Congenital hypoparathyroidism, Hypocalcemia, Hypomagnesemia, Hyperphosphat...	ORPHA:2239
Spondyloepimetaphyseal Dysplasia, Missouri Type	Disproportionate short stature, Small epiphyses, Flared metaphysis, Femoral bowing, Tibial bowing...	ORPHA:93356
Pseudoachondroplasia	Disproportionate short-limb short stature, Short long bone, Flat acetabular roof, Increased laxit...	ORPHA:750
Spinal Muscular Atrophy, Type I	Death in childhood, Respiratory insufficiency, Tongue fasciculations, Respiratory failure, Recurr...	OMIM:253300
Feingold Syndrome 2	Postnatal growth retardation, 2-3 toe syndactyly, Short middle phalanx of the 5th finger, Short s...	OMIM:614326
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Short nose, Abnormal palate morphology, Narrow mouth, Death in infancy, Short stature, Camptodact...	ORPHA:1495
Congenital Disorder Of Glycosylation, Type Iia	Postnatal growth retardation, Retrognathia, Osteopenia, Thin vermilion border, Proximal placement...	OMIM:212066
Intellectual Developmental Disorder, X-Linked 91	Short nose, Cubitus valgus, High palate, Short foot, Short 5th finger, Clinodactyly, Macrodontia,...	OMIM:300577
Odontochondrodysplasia 1	Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l...	OMIM:184260
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Tongue fasciculations, Short stature, Hypoplasia of the capital femoral epiphysis, Ankle clonus, ...	OMIM:600561
Congenital Disorder Of Glycosylation, Type Iie	Retrognathia, Short nose, Wide nose, Respiratory insufficiency, Neonatal asphyxia, Narrow mouth, ...	OMIM:608779
Pierre Robin Sequence With Facial And Digital Anomalies	Clinodactyly of the 5th finger, Easily subluxated first metacarpophalangeal joints, Glossoptosis,...	OMIM:311895
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Retrognathia, High palate, Hand clenching, Respiratory insufficiency due to m...	OMIM:611890
Peroxisome Biogenesis Disorder 1A (Zellweger)	Rocker bottom foot, High, narrow palate, Death in childhood, Cubitus valgus, Epiphyseal stippling...	OMIM:214100
Developmental And Epileptic Encephalopathy 80	Long philtrum, Triphalangeal thumb, High palate, Death in infancy, Growth delay, Protruding tongu...	OMIM:618580
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Lethal Congenital Contracture Syndrome 11	Retrognathia, Elbow flexion contracture, Camptodactyly, Bilateral talipes equinovarus, Pulmonary ...	OMIM:617194
Thymic Neuroendocrine Tumor	Osteopenia, Neoplasm of the endocrine system, Pancreatic islet cell adenoma, Neoplasm of the thym...	ORPHA:97289
Pallister-Hall-Like Syndrome	Occipital encephalocele, Short nose, Short ribs, Postaxial hand polydactyly, Micromelia, Short st...	OMIM:241800
Desbuquois Dysplasia 1	Sandal gap, Disproportionate short-limb short stature, Flat acetabular roof, Broad femoral neck, ...	OMIM:251450
Legg-Calvé-Perthes Disease	Short stature, Cartilage destruction, Abnormality of the dentition, Joint dislocation	ORPHA:2380
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Spondyloepiphyseal Dysplasia, Nishimura Type	Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Delayed epiphyse...	OMIM:618618
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Aplasia/Hypoplasia of metatarsal bones, Disproportionate short-limb short stature, Flared metaphy...	ORPHA:2502
Odontochondrodysplasia	Abnormal metaphysis morphology, Retrognathia, Square pelvis bone, Short nose, Delayed eruption of...	ORPHA:166272
Diastrophic Dysplasia	Proximal placement of thumb, Joint stiffness, Symphalangism affecting the phalanges of the hand, ...	ORPHA:628
Kleefstra Syndrome 1	U-Shaped upper lip vermilion, Anteverted nares, Mandibular prognathia, Tracheobronchomalacia, Eve...	OMIM:610253
Acromicric Dysplasia	Short nose, Long philtrum, Abnormal femur morphology, Thick lower lip vermilion, Anteverted nares...	ORPHA:969
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia, Hyperparathyroidism	ORPHA:2668
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Ulnar deviated club hands, Genu valgum, Arthralgia of ...	ORPHA:166002
Ring Chromosome 22 Syndrome	Wide nasal base, 2-3 toe syndactyly, Pleural effusion, Protruding tongue, Growth delay, Large han...	ORPHA:1446
Achondrogenesis Type 2	Abnormal bone ossification, Delayed pubic bone ossification, Short ribs, Short long bone, Hypopla...	ORPHA:93296
Larsen-Like Syndrome, Lethal Type	Multiple joint dislocation, Abnormal cartilage matrix, Joint dislocation, Tracheomalacia, Respira...	OMIM:245650
Pierre Robin Syndrome	Glossoptosis, Micrognathia, Pierre-Robin sequence, Cleft palate, Neonatal respiratory distress	OMIM:261800
Pontocerebellar Hypoplasia, Type 1C	Death in childhood, Respiratory insufficiency, Tongue fasciculations, Joint contracture, Respirat...	OMIM:616081
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Death in childhood, Clinodactyly of the 5th finger, Knee flexion contracture, Antever...	OMIM:616809
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Retrognathia, Stillbirth, Ankle flexion contracture, Dental crowding, Elbow flexion contracture, ...	OMIM:617468
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Abnormal thumb morphology, Mandibular prognathia, Everted lower lip vermilion, Protruding tongue,...	ORPHA:324410
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Elevated circulating parathyroid hormone level, Calvarial osteosclerosis, Parathyroid...	OMIM:617994
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal palate morphology, Abnormal shoulder morphology, Tooth agenesis, Micrognathia, Mesomelia...	ORPHA:1277
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Mandibular prognathia, Prominent fingertip pads, High palate, Everted lower lip vermilion, Protru...	OMIM:617804
Mesomelic Limb Shortening And Bowing	Retrognathia, Mesomelic arm shortening, Camptodactyly of finger, Mesomelic leg shortening, Microg...	OMIM:249710
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Depressed nasa...	OMIM:118651
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Ciliary Dyskinesia, Primary, 21	Atelectasis, Recurrent pneumonia, Bronchiectasis, Neonatal respiratory distress, Chronic sinusitis	OMIM:615294
Craniosynostosis, Herrmann-Opitz Type	Convex nasal ridge, Short nose, Finger syndactyly, Split hand, Micromelia, Short stature, Microgn...	ORPHA:2145
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia, Hyperparathyroidism	OMIM:239199
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short nose, Anteverted nares, Short stature, Micrognathia, Cleft palate, Thin upper lip vermilion	ORPHA:2015
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Hypercalce...	OMIM:614732
Short-Rib Thoracic Dysplasia 12	Anencephaly, Short ribs, Short long bone, Intestinal malrotation, Intrauterine growth retardation...	OMIM:269860
Hypercalcemia, Infantile, 1	Decreased circulating parathyroid hormone level, Hypercalcemia	OMIM:143880
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Disproportionate short-limb short stature, Pterygium, Respiratory insuff...	OMIM:224410
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Radial deviation of finger, Umbilical hernia, Clinodactyly, Coxa valga, Anteverted nares, Malar f...	OMIM:301040
Immunodeficiency 95	Ground-glass opacification, Recurrent viral upper respiratory tract infections, Recurrent viral p...	OMIM:619773
Fontaine Progeroid Syndrome	Retrognathia, Everted lower lip vermilion, Microdontia, Death in infancy, Recurrent aspiration pn...	OMIM:612289
Metaphyseal Chondrodysplasia, Schmid Type	Femoral bowing, Broad femoral neck, Abnormal proximal femoral metaphysis morphology, Distal tibia...	OMIM:156500
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Protruding tongue	DECIPHER:52
Dyssegmental Dysplasia, Silverman-Handmaker Type	Miscarriage, Short ribs, Short long bone, Hypoplastic ischia, Severe short stature, Encephalocele...	ORPHA:1865
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Multiple joint dislocation, Repeated pneumothoraces, Microdontia, Arachnodactyly, Slender long bo...	ORPHA:536467
Catel-Manzke Syndrome	Clinodactyly of the 5th finger, Glossoptosis, Abnormal epiphysis morphology, Oral synechia, Radia...	ORPHA:1388
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Short nose, Death in childhood, Anteverted nares, Short ribs, Short long bone, Coarse metaphyseal...	OMIM:618961
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Abnormality of cranial sutures, Abnormal bone ossification, Flat acetabular roof, Wide proximal f...	ORPHA:163649
Waardenburg Syndrome Type 3	Atelectasis, Narrow nasal bridge, Tracheomalacia, Abnormal finger morphology, Synostosis of carpa...	ORPHA:896
Poirier-Bienvenu Neurodevelopmental Syndrome	Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum	OMIM:618732
Icf Syndrome	Protruding tongue, Short stature, Micrognathia, Umbilical hernia, Recurrent respiratory infection...	ORPHA:2268
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, High palate, Protruding tongue, Short stature, Broad nasal tip, Wide mouth, Thic...	OMIM:618106
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Disproportionate short-...	ORPHA:174
Asbestos Intoxication	Ground-glass opacification, Abnormal pulmonary interstitial morphology, Pleural thickening, Atele...	ORPHA:2302
Congenital Myopathy 14	Elbow flexion contracture, High palate, Death in infancy, Hip contracture, Respiratory insufficie...	OMIM:618414
Lethal Recessive Chondrodysplasia	Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowth, Generalized...	ORPHA:1423
Hyperekplexia 4	Adducted thumb, High palate, Camptodactyly, Distal arthrogryposis, Flexion contracture, Umbilical...	OMIM:618011
Hyperparathyroidism 2 With Jaw Tumors	Parathyroid carcinoma, Hypercalcemia, Parathyroid adenoma, Hyperparathyroidism, Hurthle cell thyr...	OMIM:145001
Leukocyte Adhesion Deficiency Type Ii	Narrow palate, Severe periodontitis, Premature loss of teeth, Mandibular prognathia, Long upper l...	ORPHA:99843
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia, ...	OMIM:601198
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
Autosomal Recessive Omodysplasia	Abnormal metaphysis morphology, Short nose, Abnormal femur morphology, Rhizomelia, Pterygium, Ant...	ORPHA:93329
Combined Oxidative Phosphorylation Deficiency 51	Aspiration pneumonia, Growth delay, Severe short stature, Intrauterine growth retardation, Respir...	OMIM:619057
Tracheobronchopathia Osteochondroplastica	Atelectasis, Respiratory insufficiency, Bronchitis, Esophagitis, Recurrent pneumonia, Calcificati...	ORPHA:3348
Osseous Heteroplasia, Progressive	Ectopic ossification in muscle tissue, Ankylosis, Limb undergrowth	OMIM:166350
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Isolated Pierre Robin Syndrome	Neonatal respiratory distress, Micrognathia, Glossoptosis, Cleft palate	ORPHA:718
Achondrogenesis Type 1B	Short nose, Long philtrum, Talipes equinovarus, Anteverted nares, Abnormal enchondral ossificatio...	ORPHA:93298
Microcephaly 26, Primary, Autosomal Dominant	Short nose, Gingival overgrowth, Protruding tongue, Short stature, Recurrent pneumonia, Prominent...	OMIM:619179
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short nose, Rhizomelia, Short philtrum, Hypoplastic iliac wing, Abnormality of the calcaneus, Dep...	ORPHA:163966
Syndactyly Type 4	Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin...	ORPHA:93405
Otospondylomegaepiphyseal Dysplasia	Sandal gap, Tibial bowing, Glossoptosis, Short metacarpal, Abnormally ossified vertebrae, Bifid u...	ORPHA:1427
Mesomelia-Synostoses Syndrome	Abnormal femur morphology, Joint stiffness, Abnormal oral frenulum morphology, Mesomelia, Umbilic...	ORPHA:2496
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Femoral retroversion, Unilateral wrist flexion contracture, Micrognathia, Pulmonary hypoplasia, K...	OMIM:616531
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Postnatal growth retardation, Short nose, Death in childhood, Wide distal femoral metaphysis, Wid...	OMIM:613320
Achondrogenesis Type 1A	Short nose, Anteverted nares, Recurrent fractures, Abnormal enchondral ossification, Micromelia, ...	ORPHA:93299
Acrodysostosis	Abnormal femur morphology, Short metacarpal, Cone-shaped epiphysis, Coxa valga, Genu varum, Hypop...	ORPHA:950
Acromicric Dysplasia	Cone-shaped epiphysis, Thick lower lip vermilion, Anteverted nares, Short long bone, Narrow mouth...	OMIM:102370
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Short nose, Anteverted nares, Glossoptosis, High palate, Camptodactyly, Short stature, Growth del...	OMIM:613604
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Shor...	OMIM:250460
14Q11.2 Microdeletion Syndrome	Short nose, Exaggerated cupid's bow, High palate, Everted lower lip vermilion, Narrow mouth, Toe ...	ORPHA:261120
Meconium Aspiration Syndrome	Pneumothorax, Transient pulmonary infiltrates, Abnormal pulmonary thoracic imaging finding, Atele...	ORPHA:70588
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Ankle flexion contracture, Elevated circulating creatine kinase concentration	OMIM:615883
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Hypophosphatemia	OMIM:146350
Acute Interstitial Pneumonia	Ground-glass opacification, Atelectasis, Peribronchovascular interstitial thickening, Pleural eff...	ORPHA:79126
Renal-Hepatic-Pancreatic Dysplasia 1	Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, Splenomegaly, Pan...	OMIM:208540
Langer Mesomelic Dysplasia	Abnormal carpal morphology, Madelung deformity, Disproportionate short-limb short stature, Mesome...	ORPHA:2632
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Neonatal short-limb short stature, Stillbirth, Decreased cranial base ossification, Rhizomelia, S...	OMIM:151210
Ullrich Congenital Muscular Dystrophy	Abnormal palate morphology, Adducted thumb, Elbow flexion contracture, Slender finger, Micrognath...	ORPHA:75840
Achondrogenesis	Short nose, Anteverted nares, Abnormality of bone mineral density, Abnormal enchondral ossificati...	ORPHA:932
Microphthalmia, Syndromic 12	Retrognathia, Intestinal malrotation, Micrognathia, Neonatal death, Pulmonary hypoplasia, Broad n...	OMIM:615524
Fibrodysplasia Ossificans Progressiva	Abnormality of the first metatarsal bone, Widely spaced teeth, Clinodactyly of the 5th finger, Sh...	OMIM:135100
Maxillonasal Dysplasia	Abnormal nostril morphology, Short nose, Mandibular prognathia, Open bite, Depressed nasal ridge,...	ORPHA:1248
Neuropathy, Congenital Hypomyelinating, 3	Narrow palate, Retrognathia, Respiratory insufficiency, 2-3 toe syndactyly, Gingival overgrowth, ...	OMIM:618186
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Tracheomalacia, Anteverted nares, Gingival overgrowth, Protruding tongue, Wide mouth, Neonatal re...	OMIM:618797
Temtamy Preaxial Brachydactyly Syndrome	Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Microd...	ORPHA:363417
Down Syndrome	Delayed puberty, Sandal gap, Microdontia, Umbilical hernia, Joint hypermobility, Narrow palate, A...	ORPHA:870
Blount Disease	Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysis	ORPHA:2768
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short ribs, Decreased skull ossification, Multiple prenatal fractures, Unilateral cleft lip, Intr...	OMIM:616897
Primary Ciliary Dyskinesia	Atelectasis, Pulmonary situs ambiguus, Peribronchovascular interstitial thickening, Clubbing, Nas...	ORPHA:244
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Short nose, Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Hypoplasia...	OMIM:300863
Klippel-Trénaunay Syndrome	Congestive heart failure, Gastrointestinal hemorrhage, Hepatomegaly, Hydrops fetalis, Abnormal tr...	ORPHA:90308
Congenital Myopathy 10A, Severe Variant	Respiratory insufficiency, Tongue fasciculations, High palate, Camptodactyly of finger, Cleft pal...	OMIM:614399
Microcephaly-Micromelia Syndrome	Convex nasal ridge, Wide nose, Oligodactyly, Narrow mouth, Missing ribs, Micromelia, Forearm unde...	OMIM:251230
Geleophysic Dysplasia 3	Limited elbow movement, Long philtrum, Anteverted nares, Epiphyseal dysplasia, Short stature, Lim...	OMIM:617809
Surfactant Metabolism Dysfunction, Pulmonary, 3	Ground-glass opacification, Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb ...	OMIM:610921
Hypophosphatasia	Craniosynostosis, Hypercalcemia, Recurrent fractures	ORPHA:436
Sandestig-Stefanova Syndrome	Rocker bottom foot, Retrognathia, Convex nasal ridge, Orofacial cleft, High palate, Camptodactyly...	OMIM:618804
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia, Parathyroid adenoma, Hyperparathyroidism	OMIM:145980
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short ribs, Short long bone, Dumbbell-shaped long bone, Hypoplastic...	OMIM:228520
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Atelectasis, Chronic sinusitis	OMIM:300455
Vitamin K Antagonist Embryofetopathy	Short nose, Epiphyseal stippling, Respiratory insufficiency, Anteverted nares, Choanal atresia, M...	ORPHA:1914
Metatropic Dysplasia	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal cortical bone morphology...	ORPHA:2635
Bronchopulmonary Dysplasia	Respiratory failure requiring assisted ventilation, Emphysema, Atelectasis, Tracheobronchomalacia...	ORPHA:70589
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Chronic rhinitis...	OMIM:616726
Schneckenbecken Dysplasia	Stillbirth, Short nose, Disproportionate short-limb short stature, Snail-like ilia, Short ribs, S...	OMIM:269250
Teebi Hypertelorism Syndrome 2	Short nose, Clinodactyly of the 5th finger, Delayed eruption of teeth, Wide anterior fontanel, Hi...	OMIM:619736
Glutamine Deficiency, Congenital	Short nose, Thin vermilion border, Recurrent respiratory infections, Anteverted nares, Camptodact...	OMIM:610015
Acrocephalopolydactyly	Short nose, Genu recurvatum, Short long bone, Depressed nasal ridge, Limb undergrowth, Brachydactyly	ORPHA:221054
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Wide nasal base, Femoral bowing, Clubbing, Tibial bowing, Short long ...	OMIM:601559
Non-Distal Duplication 10Q	Short nose, High palate, Everted lower lip vermilion, Short stature, Micrognathia, Joint hypermob...	ORPHA:1695
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormality of the philtrum, Choanal atresia, Missing ribs, Arach...	ORPHA:2759
Chondrodysplasia, Blomstrand Type	Stillbirth, Flared metaphysis, Generalized osteosclerosis, Short ribs, Micromelia, Micrognathia, ...	OMIM:215045
Multiple Epiphyseal Dysplasia Type 1	Genu valgum, Knee joint hypermobility, Arthralgia of the hip, Delayed epiphyseal ossification, Sh...	ORPHA:93308
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Gm1-Gangliosidosis, Type Ii	Gingival overgrowth, Narrow mouth, Protruding tongue, Joint stiffness, Hypoplastic vertebral bodi...	OMIM:230600
Venous Malformations, Multiple Cutaneous And Mucosal	Venous malformation, Intestinal bleeding	OMIM:600195
Acrodysostosis 2 With Or Without Hormone Resistance	Short nose, Short metatarsal, Anteverted nares, Mandibular prognathia, Short metacarpal, Short ph...	OMIM:614613
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr...	OMIM:602347
Isolated Congenital Hypoglossia/Aglossia	Aplasia/Hypoplasia of fingers, Temporomandibular joint ankylosis, Aspiration pneumonia, Micrognat...	ORPHA:141152
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Camptodactyly Syndrome, Guadalajara Type 1	Short nose, Cubitus valgus, Dental malocclusion, Anteverted nares, Mandibular prognathia, Open bi...	ORPHA:1327
C1Q Deficiency 2	Atelectasis, Recurrent lower respiratory tract infections, Arthritis, Oral ulcer, Bronchiectasis	OMIM:620321
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo...	OMIM:201250
Gillessen-Kaesbach-Nishimura Syndrome	Abnormal lung lobation, Narrow greater sciatic notch, Retrognathia, Wide anterior fontanel, Short...	OMIM:263210
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Short long bone, Tooth agenesis, Flattened epiphysis, Joint hypermobility, Coxa valga, Small epip...	OMIM:618363
Heart-Hand Syndrome Type 2	Short 4th metacarpal, Abnormal palate morphology, Abnormal shoulder morphology, Abnormality of th...	ORPHA:1350
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Atelectasis, Recurrent lower respiratory tract infections, Abnormality of the temporomandibular j...	ORPHA:258
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Respiratory insufficiency, Respiratory failure, Death in infancy	OMIM:611722
Weiss-Kruszka Syndrome	Short nose, Clinodactyly of the 5th finger, Proximal placement of thumb, Prominent nasal tip, Exa...	ORPHA:502430
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ...	OMIM:612462
Craniofacial-Deafness-Hand Syndrome	Short nose, Abnormality of the wrist, Narrow mouth, Depressed nasal ridge, Hypoplasia of the maxi...	ORPHA:1529
Meckel Syndrome, Type 7	Situs inversus totalis, Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferat...	OMIM:267010
Pierpont Syndrome	Short finger, Short nose, Thin vermilion border, Widely spaced teeth, Wide nose, Long upper lip, ...	OMIM:602342
Platyspondylic Dysplasia, Torrance Type	Abnormal carpal morphology, Disproportionate short-limb short stature, Metaphyseal cupping, Bowin...	ORPHA:85166
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Short nose, Abnormal oral cavity morphology, Anteverted nares, Narrow mouth, Depressed nasal ridg...	ORPHA:1355
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Retrognathia, Long philtrum, Death in childhood, Emphysema, Atelectasis, Sandal gap, ...	OMIM:613177
Developmental And Epileptic Encephalopathy 100	Bilateral camptodactyly, Gingival overgrowth, Elbow flexion contracture, High palate, Microdontia...	OMIM:619777
Pde4D Haploinsufficiency Syndrome	Short metacarpal, Broad metatarsal, Intrauterine growth retardation, Joint hypermobility, Long ph...	ORPHA:439822
Radio-Renal Syndrome	Convex nasal ridge, Hypoplasia of the radius, Retrognathia, High, narrow palate, Chylothorax, Ple...	ORPHA:3015
Myotubular Myopathy With Abnormal Genital Development	Retrognathia, Atelectasis, High palate, Death in infancy, Neonatal death, Joint hypermobility	OMIM:300219
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplasia of the radius, Short ribs, Hypoplastic ilia, Micromelia, Postaxial polydactyly, Pulmon...	OMIM:617895
Hypophosphatemic Rickets, Autosomal Dominant	Rickets, Osteomalacia, Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Hyperparathyroidism, Neonatal Severe	Calcinosis, Elevated circulating parathyroid hormone level, Primary hyperparathyroidism, Hypercal...	OMIM:239200
Ruvalcaba Syndrome	Delayed puberty, Short nose, Thin vermilion border, Clinodactyly of the 5th finger, Proximal plac...	ORPHA:3121
Atelosteogenesis, Type I	Disproportionate short-limb short stature, Tibial bowing, Clubbing, Short metacarpal, Short humer...	OMIM:108720
Greenberg Dysplasia	Retrognathia, Disproportionate short-limb short stature, Short ribs, Short long bone, Short metac...	OMIM:215140
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Osteopenia, Atelectasis, Delayed eruption of teeth, Recurrent fractures, Abnormality of the denti...	ORPHA:2314
Robin Sequence-Oligodactyly Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Glossoptosis, Abnormality of the ...	ORPHA:3104
Ceroid Lipofuscinosis, Neuronal, 10	Respiratory insufficiency, Split hand, Neonatal death, Respiratory failure, Wide nasal bridge	OMIM:610127
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Stillbirth, Clinodactyly of the 5th finger, Hydranencephaly, Narrow nasal ridge, 2-3 toe syndacty...	OMIM:236500
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo...	ORPHA:3344
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Widely spaced teeth, Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the ...	OMIM:617102
Atelosteogenesis Type Ii	Wide nasal base, Sandal gap, Tracheobronchomalacia, Bilateral cleft palate, Short ribs, Short met...	ORPHA:56304
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Retrognathia, Small epiphyses, Joint hypermobility, Short long bone, Glossoptosis, Short stature,...	OMIM:620269
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Retrognathia, Short philtrum, Death in infancy, Growth delay, Camptodactyly of finger, Wide mouth...	ORPHA:1194
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating osteocalcin level, Reduced bone mineral density, Hypophosphatemic rickets, ...	ORPHA:157215
Thanatophoric Dysplasia	Abnormal metaphysis morphology, Abnormal ilium morphology, Disproportionate short-limb short stat...	ORPHA:2655
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Short ribs, Short long bone, Flat acetabular roof, Hypoplastic pelv...	OMIM:616300
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormal cortical bone morphology, Increased bone mineral density, Aplasia/Hypoplasia of the lung...	ORPHA:2204
Terminal Osseous Dysplasia	Mesomelic arm shortening, Abnormal hand bone ossification, Abnormal bone structure, Depressed nas...	OMIM:300244
Bone Dysplasia, Lethal Holmgren Type	Abnormal thumb morphology, Abnormal femur morphology, Rhizomelia, Abnormal diaphysis morphology, ...	ORPHA:1842
Whistling Face Syndrome, Recessive Form	Long philtrum, Knee flexion contracture, Shoulder flexion contracture, Underdeveloped nasal alae,...	OMIM:277720
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra...	ORPHA:85170
Hardikar Syndrome	Decreased liver function, Hematemesis, Elevated circulating hepatic transaminase concentration, I...	OMIM:301068
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures	OMIM:612287
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Disproportionate short-limb short statur...	ORPHA:240
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l...	OMIM:300106
Surfactant Metabolism Dysfunction, Pulmonary, 1	Ground-glass opacification, Clubbing, Intraalveolar phospholipid accumulation, Death in infancy, ...	OMIM:265120
Congenital Sialidosis Type 2	Polydactyly, Gingival overgrowth, Protruding tongue, Respiratory tract infection, Umbilical hernia	ORPHA:93400
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra...	OMIM:112910
Boomerang Dysplasia	Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca...	ORPHA:1263
Achondroplasia	Narrow greater sciatic notch, Limited elbow extension, Short proximal phalanx of finger, Rhizomel...	ORPHA:15
Otopalatodigital Syndrome, Type I	Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor...	OMIM:311300
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Respiratory insufficiency, Respiratory failure, Limited knee flexion/extension, Limited elbow fle...	ORPHA:266
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Bronchiectasis, Recurrent respiratory infections, Atelectasis	OMIM:619466
Verheij Syndrome	Retrognathia, Short nose, Long philtrum, Joint hypermobility, Anteverted nares, Branchial cyst, S...	OMIM:615583
Kaposi Sarcoma	Venous insufficiency, Neoplasm of the skin, Neoplasm by anatomical site, Lymphedema, Hemangioma, ...	ORPHA:33276
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating...	OMIM:613812
Rhizomelic Dysplasia, Patterson-Lowry Type	Short nose, Genu valgum, Rhizomelia, Wide nose, Mandibular prognathia, Deformed humeral heads, Sh...	ORPHA:2831
Achondrogenesis, Type Ib	Neonatal short-limb short stature, Stillbirth, Absent or minimally ossified vertebral bodies, Res...	OMIM:600972
Diastrophic Dysplasia	Neonatal short-limb short stature, Short finger, Genu valgum, Irregular epiphyses, Disproportiona...	OMIM:222600
Clark-Baraitser Syndrome	Short nose, Sandal gap, Low hanging columella, Short philtrum, Anteverted nares, Exaggerated cupi...	OMIM:617752
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Genu valgum, Fibular bowing, Generalized bone demineralization, Rickets of the lower lim...	OMIM:600785
Paget Disease Of Bone 2, Early-Onset	Osteosclerosis of the ulna, Fractures of the long bones, Hypercalcemia, Sclerosis of skull base, ...	OMIM:602080
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Dispro...	ORPHA:93351
Ring Chromosome 8 Syndrome	Deviation of finger, Short nose, Anteverted nares, Abnormal palate morphology	ORPHA:1450
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Femur fracture, Adducted thumb, Spina bifida occulta, Congenital hip dislocation, Arthrogryposis ...	OMIM:618291
Hypochondroplasia	Limited elbow extension, Disproportionate short-limb short stature, Flared metaphysis, Aplasia/hy...	OMIM:146000
Maxillonasal Dysplasia, Binder Type	Short nose, Short distal phalanx of finger, Dental malocclusion, Depressed nasal bridge, Short co...	OMIM:155050
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Primary hyperparathyroidism, Hypercalcemia, Hypophosphatemia, Osteomalacia	OMIM:600740
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Disproportionate short-limb short stature, Triangular shaped distal phalanges of the hand, Short ...	OMIM:271665
Laron Syndrome	Short long bone, Delayed menarche, Limb undergrowth, Severe short stature, Abnormal joint morphology	OMIM:262500
Pseudohypoparathyroidism Type 1B	Decreased response to growth hormone stimulation test, Hypocalcemic seizures, Elevated circulatin...	ORPHA:94089
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Short long bone, Prominent interphalangeal joints, Anteverted nares, Short stature, Short palm, S...	OMIM:215150
Autosomal Dominant Omodysplasia	Short nose, Rhizomelia, Short palm, Micrognathia, Short humerus, Malar flattening, Long philtrum,...	ORPHA:93328
Ruvalcaba Syndrome	Delayed puberty, Limited elbow extension, Short metatarsal, Dental crowding, Underdeveloped nasal...	OMIM:180870
Opsismodysplasia	Abnormal metaphysis morphology, Short nose, Squared iliac bones, Respiratory insufficiency, Hypop...	ORPHA:2746
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia, Primary hyperparathyroidism	OMIM:145981
Adenylosuccinate Lyase Deficiency	Short nose, Anteverted nares, Prominent metopic ridge, Smooth philtrum, Long philtrum, Thin upper...	ORPHA:46
Stuve-Wiedemann Syndrome 2	Stillbirth, Short long bone, Bowing of the long bones, Camptodactyly, Death in adolescence, Neona...	OMIM:619751
Multiple Endocrine Neoplasia Type 4	Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop...	ORPHA:276152
Congenital Muscular Dystrophy With Intellectual Disability	Respiratory insufficiency, Abnormality of the tongue muscle, Respiratory failure, Multiple joint ...	ORPHA:370968
Ophthalmomandibulomelic Dysplasia	Ulnar deviated club hands, Obtuse angle of mandible, Abnormality of bone mineral density, Temporo...	ORPHA:2741
Farber Disease	Short finger, Abnormality of the wrist, Atelectasis, Abnormality of the elbow, Respiratory insuff...	ORPHA:333
Uremic Pruritus	Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia	ORPHA:94059
Infantile Myofibromatosis	Limitation of joint mobility, Hypercalcemia, Osteolysis	ORPHA:2591
Kniest Dysplasia	Tibial bowing, Dumbbell-shaped long bone, Hypoplastic pelvis, Dumbbell-shaped femur, Umbilical he...	OMIM:156550
Nemaline Myopathy 8	Respiratory failure, Flexion contracture, Death in infancy	OMIM:615348
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Rocker bottom foot, Abnormal hip bone morphology, Short long bone, Short metacarpal, Prominent ca...	ORPHA:457395
Rhizomelic Chondrodysplasia Punctata	Abnormal metaphysis morphology, Rhizomelia, Spina bifida occulta, Epiphyseal stippling, Limitatio...	ORPHA:177
14Q24.1Q24.3 Microdeletion Syndrome	Short nose, Long philtrum, Dislocated radial head, Limited elbow extension and supination, Pulmon...	ORPHA:401935
Edinburgh Malformation Syndrome	Short nose, Thin vermilion border, Respiratory insufficiency, Anteverted nares, Narrow mouth, Cho...	ORPHA:1895
Chung-Jansen Syndrome	Short nose, Long philtrum, Thin vermilion border, Clinodactyly of the 5th finger, Short philtrum,...	OMIM:617991
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Short nose, Thin vermilion border, Craniosynostosis, Anteverted nares, Bowing of the long bones, ...	ORPHA:171839
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Short nose, Wide nose, Long philtrum	OMIM:125700
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Postnatal growth retardation, Retrognathia, Large placenta, Joint hypermobility, Long toe, Anteve...	ORPHA:254528
Kleefstra Syndrome Due To 9Q34 Microdeletion	Short nose, Anteverted nares, Everted lower lip vermilion, Protruding tongue, Growth delay, Downt...	ORPHA:96147
Gallbladder Disease 1	Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho...	OMIM:600803
Multiple Endocrine Neoplasia, Type I	Glucagonoma, Adrenocortical adenoma, Pancreatic islet cell adenoma, Pituitary prolactin cell aden...	OMIM:131100
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hypoparathyroidism, Hip contracture, Hypercalcemia, Hypophosphatemia, Knee flexion co...	OMIM:156400
Hall-Riggs Syndrome	Abnormal metaphysis morphology, Delayed eruption of teeth, Abnormal dental enamel morphology, Ant...	ORPHA:2107
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Ground-glass opacification, Atelectasis, Recurrent respiratory infections, Parenchymal consolidat...	OMIM:610978
Diaphanospondylodysostosis	Absent in utero rib ossification, Short nose, Hammertoe, Tracheomalacia, Respiratory insufficienc...	OMIM:608022
Degcags Syndrome	Retrognathia, Wide mouth, Syndactyly, Intrauterine growth retardation, Craniosynostosis, Long phi...	OMIM:619488
Multiple Pterygium Syndrome, X-Linked	Short finger, Multiple pterygia, Joint dislocation, Depressed nasal ridge, Cleft upper lip, Micro...	OMIM:312150
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal thumb morphology, Tarsal synostosis, Abnormal tibia morphology, Abnormal hip bone morpho...	ORPHA:2639
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Broad thumb, Mesomelia, Wide mouth, Umbilical hernia, Long philtrum, Short dista...	OMIM:616331
Okur-Chung Neurodevelopmental Syndrome	Clinodactyly of the 5th finger, Anteverted nares, High palate, Protruding tongue, Micrognathia, B...	OMIM:617062
Cleidocranial Dysplasia	Glossoptosis, Decreased skull ossification, Sinusitis, Abnormal epiphysis morphology, Abnormal me...	ORPHA:1452
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Decreased skull oss...	ORPHA:2141
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M...	OMIM:249700
Jeune Syndrome	Abnormal metaphysis morphology, Cone-shaped epiphysis, Respiratory insufficiency, Postaxial hand ...	ORPHA:474
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia	OMIM:620152
Greenberg Dysplasia	Abnormal bone ossification, Rhizomelia, Abnormal pelvis bone ossification, Anterior rib punctate ...	ORPHA:1426
Non-Functioning Paraganglioma	Hypercalcemia, Paraganglioma, Paraganglioma of head and neck	ORPHA:94080
Robinow Syndrome, Autosomal Recessive 2	Short nose, Sandal gap, Triangular mouth, Cleft soft palate, Anteverted nares, Gingival overgrowt...	OMIM:618529
Biliary Atresia, Extrahepatic	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:210500
Multiple Mitochondrial Dysfunctions Syndrome 3	Retrognathia, Respiratory insufficiency, High palate, Intrauterine growth retardation, Respirator...	OMIM:615330
Dysostosis, Stanescu Type	Tooth agenesis, Persistent open anterior fontanelle, Massively thickened long bone cortices, Abno...	ORPHA:1798
Microphthalmia With Limb Anomalies	Retrognathia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hypo...	OMIM:206920
Vitamin D-Dependent Rickets, Type 2A	Rickets, Fibular bowing, Delayed epiphyseal ossification, Delayed eruption of teeth, Enlargement ...	OMIM:277440
Tonne-Kalscheuer Syndrome	Widely spaced teeth, Narrow mouth, Broad thumb, Short stature, Micrognathia, Growth delay, Pulmon...	OMIM:300978
Late-Onset Isolated Acth Deficiency	Generalized bone demineralization, Hypoparathyroidism, Decreased circulating ACTH concentration, ...	ORPHA:199299
Recurrent Respiratory Papillomatosis	Atelectasis, Tracheomalacia, Respiratory insufficiency, Abnormal lung morphology, Recurrent pneum...	ORPHA:60032
Angelman Syndrome	Widely spaced teeth, Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mo...	OMIM:105830
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia, Reduced bone mineral density	ORPHA:172
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short nose, Abnormal palate morphology, Postaxial hand polydactyly, Short stature, Microretrognat...	ORPHA:1389
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in childhood, Respiratory insufficiency, Death in infancy, Growth delay, Neonatal death, In...	OMIM:245400
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Mandibular prognathia, Widely spaced teeth, Wide mouth, Protruding tongue	ORPHA:98795
Arthrogryposis, Distal, Type 2A	Rocker bottom foot, Flexion contracture of toe, Dental crowding, Wrist flexion contracture, Flexi...	OMIM:193700
Potocki-Shaffer Syndrome	Short nose, Short philtrum, 2-5 finger cutaneous syndactyly, Downturned corners of mouth, Brachyd...	OMIM:601224
Pontocerebellar Hypoplasia, Type 4	Respiratory failure, Congenital contracture, Death in infancy	OMIM:225753
Chromosome 6Q11-Q14 Deletion Syndrome	Short nose, Long philtrum, High palate, Short stature, Micrognathia, Broad nasal tip, Prominent n...	OMIM:613544
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone...	OMIM:250220
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Hypokalemia, Hypocalcemia, Osteomalacia, Elevated circulating creatinine con...	OMIM:179800
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures	OMIM:612286
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Postnatal growth retardation, Spontaneous neonatal pneumothorax, Recurrent mandibular subluxation...	OMIM:225410
Congenital Disorder Of Glycosylation, Type Iu	Short nose, High palate, Congenital contracture, Death in infancy, Micrognathia, Neonatal respira...	OMIM:615042
Mitochondrial Complex I Deficiency, Nuclear Type 35	Intrauterine growth retardation, Neonatal respiratory distress, Neonatal death, Pulmonary hypoplasia	OMIM:619003
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limited elbow extension, Disproportionate short-limb short stature, Short stature, Limb undergrow...	ORPHA:156728
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Widely spaced teeth, Mandibular prognathia, Protruding tongue, Limitation of movement at ankles, ...	ORPHA:98794
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short 4th metacarpal, High, narrow palate, Joint dislocation, Hypodontia, Tapered finger, Glossop...	ORPHA:3201
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop...	ORPHA:85188
Pycnodysostosis	Disproportionate short-limb short stature, Hypoplastic iliac wing, Acromelia, Persistent open ant...	ORPHA:763
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
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
Orofaciodigital Syndrome Type 4	Retrognathia, Abnormal oral frenulum morphology, Bifid uvula, Severe short stature, Intrauterine ...	ORPHA:2753
Fetal Akinesia Deformation Sequence	Pterygium, Respiratory insufficiency, Intestinal hypoplasia, Arthrogryposis multiplex congenita, ...	ORPHA:994
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia	OMIM:246570
Arthrogryposis Multiplex Congenita 6	Adducted thumb, Death in childhood, Death in infancy, Neonatal death, Respiratory failure, Arthro...	OMIM:619334
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Postnatal growth retardation, Short nose, Slender nose, Micrognathia, Joint contracture, Wide mou...	OMIM:615419
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Short nose, Anteverted nares, Micrognathia, Ulnar deviation of the wrist, Broad philtrum, Long ph...	OMIM:618577
Hypochondroplasia	Abnormal metaphysis morphology, Childhood onset short-limb short stature, Abnormal femur morpholo...	ORPHA:429
Down Syndrome	Aganglionic megacolon, Sandal gap, Hypoplastic iliac wing, Shallow acetabular fossae, Short middl...	OMIM:190685
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Decreased cervical spine flexion due to contractures of posterior cervical muscles, Atelectasis, ...	ORPHA:254361
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Neonatal respiratory distress, Atelectasis	OMIM:267450
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Multiple prenatal fractures, Pulmonary hypoplasia, Flexion contracture, Respiratory failure, Neon...	OMIM:616867
Oculoskeletodental Syndrome	Hypocalcemia, Hypercalcemia	ORPHA:557003
Fatty Acyl-Coa Reductase 1 Deficiency	Short nose, Short stature, Growth delay, Smooth philtrum, Long philtrum, Thin upper lip vermilion...	ORPHA:438178
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Rocker bottom foot, Short nose, Clinodactyly of the 5th finger, Anteverted nares, Exaggerated cup...	OMIM:618506
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hypercalcemia, Hyperphosphatemia, Hyperparathyroidism	OMIM:211900
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Disproportionate short-limb short stature, Aplasia/Hypopla...	ORPHA:2098
Fibrochondrogenesis 2	Short nose, Metaphyseal cupping, Hypoplastic pubic bone, Anteverted nares, Short ribs, Short long...	OMIM:614524
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Widely spaced teeth, Wide mouth, Protruding tongue	ORPHA:411511
Codas Syndrome	Short nose, Midline defect of the nose, Delayed eruption of teeth, Abnormal dental enamel morphol...	ORPHA:1458
Mulibrey Nanism	Recurrent lower respiratory tract infections, Wide nose, Absent frontal sinuses, Dental crowding,...	OMIM:253250
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Retrognathia, Radial deviat...	OMIM:227270
Autoimmune Hypoparathyroidism	Hypocalcemic seizures, Hypocalcemia, Increased bone mineral density, Autoimmune hypoparathyroidis...	ORPHA:36913
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,...	OMIM:127300
Hypophosphatasia, Infantile	Unossified vertebral bodies, Elevated plasma pyrophosphate, Decreased calvarial ossification, Hyp...	OMIM:241500
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Tibial bowing, Bowing of the long bones, Abnormally ossified vertebra...	ORPHA:3035
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Short nose, Clinodactyly of the 5th finger, 11 pairs of ribs, Sandal gap, Spina bifid...	OMIM:617877
Short Stature, Dauber-Argente Type	Postnatal growth retardation, Decreased fibular diameter, Arachnodactyly, Long fingers, Short sta...	OMIM:619489
Mitochondrial Complex I Deficiency, Nuclear Type 18	Respiratory failure, Wide anterior fontanel, Death in infancy	OMIM:618240
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Disproportionate short-limb short stature, Hypoplastic iliac wing, Short long bone, Short metacar...	OMIM:611717
Joubert Syndrome 1	Anteverted nares, Postaxial hand polydactyly, Protruding tongue, Occipital myelomeningocele, Tria...	OMIM:213300
Stickler Syndrome Type 1	Short nose, Long philtrum, Abnormal vertebral epiphysis morphology, Hypoplasia of the maxilla, Cl...	ORPHA:90653
Thoracomelic Dysplasia	Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg...	ORPHA:1803
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Diabetes mellitus, Hypercholesterolemia, Hypocalcemia	OMIM:612526
Desbuquois Dysplasia 2	Dental crowding, Short long bone, Flat acetabular roof, Short metacarpal, Broad thumb, Bifid uvul...	OMIM:615777
Ciliary Dyskinesia, Primary, 29	Bronchiectasis, Recurrent respiratory infections, Atelectasis	OMIM:615872
Dermatosparaxis Ehlers-Danlos Syndrome	Rickets, Retrognathia, Osteopenia, Joint dislocation, Hiatus hernia, Osteomalacia, Esophagitis, O...	ORPHA:1901
Ciliary Dyskinesia, Primary, 5	Respiratory insufficiency due to defective ciliary clearance, Recurrent respiratory infections, C...	OMIM:608647
Familial Nasal Acilia	Atelectasis, Chronic rhinitis, Recurrent upper respiratory tract infections, Bronchiectasis, Chro...	ORPHA:922
Periventricular Nodular Heterotopia 7	Short nose, 1-4 toe syndactyly, Clinodactyly of the 5th finger, Anteverted nares, 2-3 toe syndact...	OMIM:617201
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly, Short foot	OMIM:611263
Spondyloepimetaphyseal Dysplasia, Missouri Type	Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, Tibial bowing,...	OMIM:602111
Proteus Syndrome	Venous malformation, Lipoma, Hemangioma, Lymphangioma, Splenomegaly, Limbal dermoid, Multiple lip...	OMIM:176920
Peho-Like Syndrome	Retrognathia, Short nose, Tapered finger, Open mouth	OMIM:617507
Orofaciodigital Syndrome Ii	Bifid nasal tip, Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, P...	OMIM:252100
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Limited elbow extension, Long philtrum, Genu valgum, Monkey wrench femoral neck, Clinodactyly of ...	OMIM:618870
Kyphomelic Dysplasia	Abnormal metaphysis morphology, Flat acetabular roof, Bowing of the long bones, Missing ribs, Mic...	ORPHA:1801
Fibular Hemimelia	Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog...	ORPHA:93323
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Cheilitis, Dental crowding, Everted lower lip vermilion, Death in infancy, Joint...	ORPHA:534
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Delayed puberty, Long philtrum, Intrauterine growth retardation, Joint hypermobility, Clinodactyl...	ORPHA:391408
Atelosteogenesis Type I	Abnormal fibula morphology, Absent or minimally ossified vertebral bodies, Rhizomelia, Joint disl...	ORPHA:1190
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga...	ORPHA:1972
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Limitation of...	ORPHA:1486
Ollier Disease	Abnormal metaphysis morphology, Micromelia, Joint stiffness, Abnormal cartilage morphology, Multi...	ORPHA:296
Pheochromocytoma--Islet Cell Tumor Syndrome	Pheochromocytoma, Hypercalcemia	OMIM:171420
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Infant Acute Respiratory Distress Syndrome	Pulmonary edema, Atelectasis, Respiratory tract infection, Pneumonia, Respiratory failure	ORPHA:70587
Fibrous Dysplasia Of Bone	Rickets, Thyroid carcinoma, Precocious puberty in females, Abnormality of the endocrine system, I...	ORPHA:249
Thanatophoric Dysplasia, Type I	Disproportionate short-limb short stature, Flared metaphysis, Short greater sciatic notch, Femora...	OMIM:187600
Teebi Hypertelorism Syndrome 1	Short nose, Anteverted nares, Dental crowding, Short stature, Coronal craniosynostosis, Micrognat...	OMIM:145420
Rhiny	Thin vermilion border, Short nose, Anteverted nares	OMIM:180360
Distal Duplication 18Q	Short nose, Clinodactyly of the 5th finger, Anteverted nares, High palate, Choanal atresia, Devia...	ORPHA:1716
Femoral-Facial Syndrome	Abnormal fibula morphology, Short nose, Orofacial cleft, Abnormal pelvic girdle bone morphology, ...	ORPHA:1988
Bronchogenic Cyst	Bronchogenic cyst, Abnormal pulmonary thoracic imaging finding, Abnormal stomach morphology, Atel...	ORPHA:2357
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Respiratory insufficiency, Respiratory failure, Death in infancy	OMIM:613869
Pseudoachondroplasia	Disproportionate short-limb short stature, Short long bone, Short metacarpal, Metaphyseal irregul...	OMIM:177170
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Rickets, Hypophosphatemia, Osteomalacia	ORPHA:89937
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Aplasia/hypoplasia of the femur, Retrognathia, Broad distal phalanx of finger, Long nose, Abnorma...	ORPHA:2636
Otopalatodigital Syndrome Type 2	Glossoptosis, Flared iliac wing, Hypoplastic frontal sinuses, Myelomeningocele, Anodontia, Fibula...	ORPHA:90652
Marden-Walker Syndrome	Postnatal growth retardation, Long philtrum, High, narrow palate, Wide anterior fontanel, Antever...	OMIM:248700
Multiple Pterygium Syndrome, Lethal Type	Short finger, Multiple pterygia, Joint dislocation, Depressed nasal ridge, Micrognathia, Cleft pa...	OMIM:253290
Developmental And Epileptic Encephalopathy 73	Short nose, Narrow nasal bridge, Flexion contracture, Hip dysplasia	OMIM:618379
Osteoglophonic Dysplasia	Eruption failure, Short metacarpal, Broad metatarsal, Broad thumb, Severe short stature, Long phi...	OMIM:166250
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Retrognathia, Short nose, Broad nasal tip, Malar flattening, Open mouth	OMIM:613670
17P13.3 Microduplication Syndrome	Short nose, Clinodactyly of the 5th finger, Wide nose, High palate, Narrow mouth, Congenital hip ...	ORPHA:217385
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Radial deviation of finger, Hypoplastic philtrum, Wide mouth, Clinodactyly, Anteverted nares, Sho...	OMIM:309580
Surfactant Metabolism Dysfunction, Pulmonary, 2	Ground-glass opacification, Respiratory insufficiency, Clubbing, Intraalveolar phospholipid accum...	OMIM:610913
Weismann-Netter Syndrome	Fibular bowing, Anterior tibial bowing, Lateral femoral bowing, Severe short stature, Squared ili...	OMIM:112350
Brachydactyly, Type B1	Joint contracture of the hand, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of ...	OMIM:113000
Peroxisome Biogenesis Disorder 8A (Zellweger)	Death in infancy, Glossoptosis, Epiphyseal stippling	OMIM:614876
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short ribs, Short long bone, Flat acetabular roof, Microdontia, Mesomelia, Syndactyly, Short dist...	OMIM:614091
Sponastrime Dysplasia	Disproportionate short-limb short stature, Short long bone, Short dental root, Microdontia, Aplas...	ORPHA:93357
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Distal Deletion 17Q	Abnormal thumb morphology, Abnormal metacarpal morphology, Abnormal hip bone morphology, Aplasia/...	ORPHA:1597
Thoracic Dysplasia-Hydrocephalus Syndrome	Abnormal metaphysis morphology, Depressed nasal ridge, Short stature, Limb undergrowth, Respirato...	ORPHA:1861
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Abnormal cartilage matrix, Flared metaphysis, Wide anterior fontanel...	ORPHA:2347
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic seizures, Calvarial osteosclerosis, Congenital hypoparathyroidism, Hypocalcemia, Dec...	ORPHA:93324
Thanatophoric Dysplasia, Type Ii	Flared metaphysis, Respiratory insufficiency, Short greater sciatic notch, Short ribs, Hypoplasti...	OMIM:187601
Zollinger-Ellison Syndrome	Glucagonoma, Elevated circulating parathyroid hormone level, Neuroendocrine neoplasm, Adrenocorti...	ORPHA:913
Robinow Syndrome, Autosomal Recessive 1	Retrognathia, Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocate...	OMIM:268310
Achondroplasia	Narrow greater sciatic notch, Femoral bowing, Short ribs, Trident hand, Death in infancy, Genu va...	OMIM:100800
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Restricted large joint movement, Small epiphyses, Flared metaphysis, Hypoplastic pubic bone, Dela...	ORPHA:93346
Osteogenesis Imperfecta, Type Ii	Absent ossification of calvaria, Crumpled long bones, Disproportionate short-limb short stature, ...	OMIM:166210
C Syndrome	Radial deviation of finger, Dislocated radial head, Short metacarpal, Wide mouth, Accessory oral ...	OMIM:211750
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Retrognathia, Short nose, Recurrent lower respiratory tract infections, High palate, ...	OMIM:618005
Pseudohypoparathyroidism, Type Ia	Elevated circulating parathyroid hormone level, Osteoporosis, Subcutaneous ossification, Pseudohy...	OMIM:103580
Glycine Encephalopathy With Normal Serum Glycine	Retrognathia, Genu recurvatum, Anteverted nares, Elbow flexion contracture, Hand clenching, Hip c...	OMIM:617301
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Recurrent respiratory infections, Respiratory insufficiency, Hyperextensibility...	OMIM:618356
Spondyloepiphyseal Dysplasia Tarda	Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyses, Abnormally os...	ORPHA:93284
Familial Isolated Hypoparathyroidism	Hypocalcemia, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparath...	ORPHA:2238
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed puberty, Long nose, Short nose, Short philtrum, Delayed eruption of teeth, Low hanging co...	OMIM:615866
Ohdo Syndrome	Short nose, Long philtrum, Thin vermilion border, Clinodactyly of the 5th finger, Widely spaced t...	OMIM:249620
Scedosporiosis	Abnormal jejunum morphology, Pleuritis, Bronchitis, Pleural empyema, Apical pulmonary opacity, Si...	ORPHA:449280
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Aplasia of the distal phalanx of the 5th toe, Everted lower lip vermilion, Intrauterine growth re...	ORPHA:364577
Pfeiffer Syndrome	Short nose, 3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Fing...	OMIM:101600
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ...	OMIM:620663
Immunodeficiency 54	Postnatal growth retardation, Respiratory insufficiency, Short stature, Intrauterine growth retar...	OMIM:609981
Axial Spondylometaphyseal Dysplasia	Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short...	ORPHA:168549
Oculoskeletodental Syndrome	Hypocalcemia, Elbow flexion contracture, Hypercalcemia, Hypothyroidism	OMIM:618440
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing...	OMIM:608728
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Cholestasis, Portal hypertension, Elev...	OMIM:619662
Joubert Syndrome 18	Retrognathia, Occipital encephalocele, Bowing of the long bones, Camptodactyly, Postaxial polydac...	OMIM:614815
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Respiratory failure, Aspiration pneumonia	ORPHA:90117
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion	Abnormality of the parathyroid gland, Abnormal circulating calcium concentration, Secondary hyper...	ORPHA:140286
Robinow Syndrome, Autosomal Dominant 1	Retrognathia, Radial deviation of finger, Dislocated radial head, Dental crowding, Short long bon...	OMIM:180700
Kniest Dysplasia	Enlarged metaphyses, Short long bone, Dumbbell-shaped long bone, Joint stiffness, Dumbbell-shaped...	ORPHA:485
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Abnormal palate morphology, Thick lower lip vermilion, Cubitus valgus, Abnormal metatarsal morpho...	ORPHA:163654
Acrofacial Dysostosis, Catania Type	Short nose, Abnormal palate morphology, Clinodactyly of the 5th finger, Spina bifida occulta, Fin...	ORPHA:1786
Cenani-Lenz Syndrome	Oligodactyly, Hip dislocation, Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacar...	ORPHA:3258
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Limited elbow extension, Short nose, Carpal bone hypoplasia, Osteopenia, Small epiphyses, Cranios...	OMIM:616723
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Short nose, Thin vermilion border, Abnormal palate morphology, Thick lower lip vermilion, Antever...	ORPHA:2701
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Short ribs, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Umb...	OMIM:304120
Hereditary Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Thanatophoric Dysplasia Type 1	Abnormal metaphysis morphology, Short greater sciatic notch, Respiratory insufficiency, Wide ante...	ORPHA:1860
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Joint stiffness, Brachydactyly, Disproportionate short stature, Joint h...	ORPHA:40
Verloove Vanhorick-Brubakk Syndrome	Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ...	ORPHA:3429
Vacterl Association With Hydrocephalus	Stillbirth, Radial club hand, Respiratory insufficiency, Anal atresia, Absent thumb, Respiratory ...	OMIM:276950
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Disproportionate short-limb short stature, Delayed ossification of carpal bones, Short dental roo...	OMIM:271510
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Rhizomelia, Wide anterior fontanel, Femoral bowing, Tibial bowing, Mesomelia, Severe short statur...	OMIM:616482
Short Stature, Brussels Type	Delayed epiphyseal ossification, Growth delay, Short stature, Calcification of cartilage, Microre...	ORPHA:2867
Foxp1 Syndrome	Retrognathia, Short nose, Mandibular prognathia, Prominent fingertip pads, Downturned corners of ...	ORPHA:391372
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal lung lobation, Orofacial cleft, Short ...	ORPHA:958
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Upper limb undergrowth, Anteverted nares, Pulmonary hypoplasia	OMIM:613124
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Elevated circulating parathyroid hormone level, Hypophosphatemia, Osteomalac...	OMIM:613388
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormal hip bone morphology, Dental crowding, Tibial bowing, Microdontia, Broad thumb, Prominent...	ORPHA:251028
Burn-Mckeown Syndrome	Short nose, Abnormal palate morphology, Bilateral choanal atresia, Short stature, Prominent nasal...	ORPHA:1200
Mietens Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Short nose, Clinoda...	ORPHA:2557
Brachytelephalangic Chondrodysplasia Punctata	Short distal phalanx of toe, Short distal phalanx of finger, Calcaneal epiphyseal stippling, Nasa...	ORPHA:79345
3M Syndrome	Rocker bottom foot, Abnormal metaphysis morphology, Hypoplasia of the ulna, Long philtrum, Clinod...	ORPHA:2616
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Marshall Syndrome	Small proximal tibial epiphyses, Bifid uvula, Irregular femoral epiphysis, Long philtrum, Irregul...	OMIM:154780
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement ...	OMIM:600081
Tetrasomy 5P	Postnatal growth retardation, Short nose, Clinodactyly of the 5th finger, Short hallux, Wide ante...	ORPHA:3309
Gjc2-Related Late-Onset Primary Lymphedema	Facial edema, Edema of the dorsum of hands, Hypoplasia of lymphatic vessels, Venous insufficiency...	ORPHA:568051
Paternal Uniparental Disomy Of Chromosome 1	Delayed puberty, Increased blood urea nitrogen, Hypercalcemia, Craniosynostosis, Recurrent fractures	ORPHA:251004
Acrocapitofemoral Dysplasia	Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Hy...	OMIM:607778
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Abnormal cartilage matrix, Epiphyseal stippling, Abnormal bone structure, Short metacarpal, Pulmo...	ORPHA:86822
Beta-Mercaptolactate Cysteine Disulfiduria	Genu valgum, Sandal gap, Anteverted nares, High palate, Micromelia, Short stature, Arachnodactyly...	ORPHA:1035
Multiple Osteochondromas	Intestinal obstruction, Abnormal femur morphology, Cervical myelopathy, Limitation of knee mobili...	ORPHA:321
Spinocerebellar Ataxia-Dysmorphism Syndrome	Short nose, Reduced bone mineral density, Cubitus valgus, Spina bifida occulta, Slender long bone...	ORPHA:1185
Congenital Bile Acid Synthesis Defect Type 3	Cirrhosis, Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Bi...	ORPHA:79302
Cardioacrofacial Dysplasia 2	Genu valgum, Clinodactyly of the 5th finger, Short philtrum, Conical tooth, Mandibular prognathia...	OMIM:619143
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Narrow palate, Atelectasis, Hammertoe, Hydranencephaly, Respiratory insufficiency, Anteverted nar...	OMIM:620371
Craniodigital-Intellectual Disability Syndrome	Short nose, Spina bifida occulta, Narrow nasal bridge, Finger syndactyly, Short stature, Microgna...	ORPHA:1514
Smith-Kingsmore Syndrome	Short nose, Short proximal phalanx of finger, Long philtrum, Rhizomelia, Wide anterior fontanel, ...	OMIM:616638
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Ventricular septal hypertrophy...	OMIM:115197
Juvenile Sialidosis Type 2	Gingival overgrowth, Protruding tongue, Umbilical hernia	ORPHA:93399
Familial Isolated Restrictive Cardiomyopathy	Left atrial enlargement, Pulmonary edema, Hepatomegaly, Atrial fibrillation, Stroke, Supraventric...	ORPHA:75249
Addison Disease	Hyperkalemia, Delayed puberty, Generalized bone demineralization, Hypoparathyroidism, Hyperuricem...	ORPHA:85138
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Schwartz-Jampel Syndrome, Type 1	Flexion contracture of toe, Wrist flexion contracture, Umbilical hernia, Anterior bowing of long ...	OMIM:255800
Pallister-Hall Syndrome	Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Syndactyly, Intrauter...	OMIM:146510
Congenital Heart Defects And Skeletal Malformations Syndrome	Long nose, Short nose, Thin vermilion border, Clinodactyly of the 5th finger, Sandal gap, Repeate...	OMIM:617602
Lowry-Maclean Syndrome	Convex nasal ridge, Retrognathia, Short nose, Osteopenia, Widely patent coronal suture, High, nar...	ORPHA:2409
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Abnormal pelvic girdle bone morphology, Furrowed tongue, Micromelia, Short stature, Camptodactyly...	ORPHA:2928
Developmental And Epileptic Encephalopathy 71	Respiratory insufficiency, Respiratory failure	OMIM:618328
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Fibular bowing, Delayed epiphyseal ossification, Delayed eruption of teeth, Enlargement ...	OMIM:264700
Intermediate Nemaline Myopathy	High, narrow palate, Multiple prenatal fractures, Flexion contracture, Long philtrum, Respiratory...	ORPHA:171433
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory failure, Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneum...	ORPHA:2590
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Anteverted nares, Amelia, Decreased skull ossification, Intestina...	OMIM:601163
Calciphylaxis	Secondary hyperparathyroidism, Hyperphosphatemia, Ectopic ossification	ORPHA:280062
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Femur-Fibula-Ulna Complex	Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh...	ORPHA:2019
16P12.1P12.3 Triplication Syndrome	Retrognathia, Short nose, Long philtrum, Thin vermilion border, High, narrow palate, 2-3 toe synd...	ORPHA:485405
2P21 Microdeletion Syndrome	Hypocalcemia, Hypogonadism	ORPHA:163693
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Delayed cranial suture closure, Micromelia, Met...	ORPHA:2249
Metaphyseal Anadysplasia 2	Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg...	OMIM:613073
Capillary Malformation-Arteriovenous Malformation	Congestive heart failure, Arteriovenous malformation, Chylothorax, Arteriovenous fistula, Abnorma...	ORPHA:137667
Cardioacrofacial Dysplasia 1	Genu valgum, Short philtrum, Conical tooth, Postaxial polydactyly, Hypoplasia of the maxilla, Lim...	OMIM:619142
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Short nose, Long philtrum, Recurrent respiratory infections, Short philtrum, Anteverted nares, Ex...	OMIM:618316
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Hypophosphatemic Rickets, X-Linked Dominant	Enamel hypomineralization, Rickets, Genu valgum, Fibular bowing, Hypophosphatemic rickets, Cupped...	OMIM:307800
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short nose, Anteverted nares, Short distal phalanx of toe, Narrow mouth, Microdontia, Bilateral t...	OMIM:619356
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short nose, Death in early adulthood, Short clavicles, Delayed cranial suture closure, Osteolytic...	OMIM:608612
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Short nose, Clinodactyly of the 5th finger, Short philtrum, Anteverted nares, 2-3 toe syndactyly,...	OMIM:613443
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Retrognathia, Short nose, Anteverted nares, High palate, Growth delay, Recurrent upper respirator...	OMIM:614069
Caroli Syndrome	Hematemesis, Elevated circulating hepatic transaminase concentration, Conjunctival icterus, Leuko...	ORPHA:480520
Acute Adrenal Insufficiency	Hyperkalemia, Delayed puberty, Hyperuricemia, Adrenal hypoplasia, Androgen insufficiency, Increas...	ORPHA:95409
Hypophosphatasia, Adult	Rickets, Arthropathy, Osteomalacia, Carious teeth, Premature loss of primary teeth, Pathologic fr...	OMIM:146300
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Short nose, Widely spaced teeth, Mandibular prognathia, Arthrogryposis-like hand anomaly, High pa...	ORPHA:369891
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Narrow greater sciatic notch, Neonatal short-limb short stature, Encephalocele, Short ribs, Short...	OMIM:224400
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Short nose, Short philtrum, Mandibular prognathia, Everted lower lip vermilion, Wide mouth, Thin ...	ORPHA:2429
Perlman Syndrome	Retrognathia, Short nose, High, narrow palate, Anteverted nares, Broad alveolar ridges, Micrognat...	ORPHA:2849
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory insufficienc...	ORPHA:254875
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Postnatal growth retardation, Acromicria, Short foot, Intrauterine growth retardation, Clinodacty...	ORPHA:254525
Opsismodysplasia	Short nose, Long philtrum, Rhizomelia, Disproportionate short-limb short stature, Respiratory ins...	OMIM:258480
Arthrogryposis, Distal, Type 5D	Hypermobility of distal interphalangeal joints, Limited elbow movement, Anteverted nares, Limited...	OMIM:615065
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia, Protruding tongue	ORPHA:53351
Clark-Baraitser syndrome	Genu valgum, Thick lower lip vermilion, Genu recurvatum, Anteverted nares, Prominent median palat...	OMIM:300602
Congenital Gerbode Defect	Elevated right atrial pressure, Left-to-right shunt, Pulmonic stenosis, Constrictive pericarditis...	ORPHA:99095
Lethal Congenital Contracture Syndrome 10	Convex nasal ridge, Long philtrum, Narrow palate, Stiff neck, Femoral bowing, Short long bone, Hi...	OMIM:617022
Autosomal Recessive Robinow Syndrome	Abnormal hip bone morphology, Sandal gap, Disproportionate short-limb short stature, Death in inf...	ORPHA:1507
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Abnormal metacarpal morphology, Glossoptosis, Micrognathia, Cleft palate, Osteoarthritis, Malar f...	ORPHA:166100
Mitochondrial Myopathy And Sideroblastic Anemia	Delayed puberty, Short nose, High palate, Micrognathia, Long philtrum	ORPHA:2598
Image Syndrome	Intrauterine growth retardation, Metaphyseal dysplasia, Depressed nasal bridge, Micromelia	ORPHA:85173
Astley-Kendall Dysplasia	Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia	ORPHA:85175
Angelman Syndrome	Widely spaced teeth, Mandibular prognathia, Delayed menarche, Protruding tongue, Wide mouth	ORPHA:72
Neu-Laxova Syndrome	Retrognathia, Everted lower lip vermilion, Bifid uvula, Intrauterine growth retardation, Rickets,...	ORPHA:2671
Ulbright-Hodes Syndrome	Short ribs, Severe intrauterine growth retardation, Short metacarpal, Short humerus, Mesomelia, A...	ORPHA:3404
Acheiropodia	Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,...	ORPHA:931
Oculocerebrofacial Syndrome, Kaufman Type	Retrognathia, Thin vermilion border, High, narrow palate, Short philtrum, Microdontia, Growth del...	ORPHA:2707
Milroy Disease	Pedal edema, Predominantly lower limb lymphedema, Neoplasm of the skin, Lymphedema, Abnormal veno...	ORPHA:79452
Eiken Syndrome	Fibular hypoplasia, Abnormal bone ossification, Cubitus valgus, Delayed epiphyseal ossification, ...	ORPHA:79106
Aminopterin/Methotrexate Embryofetopathy	Anencephaly, Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Meningocele, Mand...	ORPHA:1908
Hypocalcemic Vitamin D-Resistant Rickets	Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Joint dislocation, Bon...	ORPHA:93160
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Fibular hypoplasia, Anterior tibial bowing, Dislocated radial head, Hypoplastic ...	OMIM:605274
Amyotrophic Lateral Sclerosis 28	Respiratory failure	OMIM:620452
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia, Osteomalacia, Renal hypophosphatemia	ORPHA:405
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wide anterior fontanel, Bilateral talipes equinovarus, Mesomelia, Limb undergrowth, Shortening of...	OMIM:601356
Congenital Neuronal Ceroid Lipofuscinosis	Respiratory failure, Neonatal respiratory distress, Split hand, Wide nasal bridge	ORPHA:168486
Miller-Dieker Syndrome	Short nose, Clinodactyly of the 5th finger, Anteverted nares, Growth delay, Abnormal upper lip mo...	ORPHA:531
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Short long bone, Metaphyseal irregularity, Joint hypermobility, Long philtrum, Hip dislocation, S...	OMIM:616007
Ear-Patella-Short Stature Syndrome	Retrognathia, Bifid uvula, Severe short stature, Joint hypermobility, Craniosynostosis, Intrauter...	ORPHA:2554
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat...	OMIM:613027
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia	OMIM:188740
Ciliary Dyskinesia, Primary, 1	Atelectasis, Absent frontal sinuses, Recurrent bronchitis, Anosmia, Chronic rhinitis, Bronchiecta...	OMIM:244400
Aortic Aneurysm, Familial Thoracic 4	Bicuspid aortic valve, Aortic regurgitation, Coronary artery atherosclerosis, Ascending tubular a...	OMIM:132900
Weyers Ulnar Ray/Oligodactyly Syndrome	Hypoplasia of the radius, Proximal radial head dislocation, Solitary median maxillary central inc...	OMIM:602418
Heterotaxy, Visceral, 4, Autosomal	Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia, Right aortic ar...	OMIM:613751
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Absent toe, Short ribs, Hypoplastic pelvis, Syndactyly, Umbilical hernia, 4-5 toe syndactyly, Sho...	OMIM:308050
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Rhizomelic arm shortening, Iliac crest serration, Short palm, Metaphyseal chond...	ORPHA:93317
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Narrow palate, Anteverted nares, Flexion contracture, Tented upper lip vermilion, Respiratory fai...	OMIM:616505
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Short nose, Hypoplastic ischia, Intrauterine growth retardation, Depressed nasal bridge	OMIM:616910
Intellectual Developmental Disorder, X-Linked 30	Short nose, Anteverted nares, Prominent fingertip pads, High palate, Short stature, Thick upper l...	OMIM:300558
Idiopathic Chronic Eosinophilic Pneumonia	Abnormal pulmonary thoracic imaging finding, Hypersensitivity pneumonitis, Atelectasis, Pleural e...	ORPHA:2902
Vipoma	Increased circulating gonadotropin level, Hypokalemia, Adrenocortical adenoma, Primary hyperparat...	ORPHA:97282
Pyruvate Dehydrogenase E1-Alpha Deficiency	Anteverted nares, Flared nostrils, Long philtrum, Respiratory failure, Wide nasal bridge	OMIM:312170
Acromesomelic Dysplasia, Hunter-Thompson Type	Tarsal synostosis, Abnormally shaped carpal bones, Cuboidal metacarpal, Short metacarpal, Abnorma...	ORPHA:968
Orofaciodigital Syndrome Xix	Retrognathia, Bifid nasal tip, Microdontia, Accessory oral frenulum, Tongue nodules, Narrow palat...	OMIM:620107
Microcephaly, Short Stature, And Limb Abnormalities	Hypoplasia of the radius, Clinodactyly of the 5th finger, 11 pairs of ribs, Patellar hypoplasia, ...	OMIM:617604
Mesomelic Dysplasia, Nievergelt Type	Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Clinodactyly of the 5th...	ORPHA:2633
ERI1-related disease	Limited elbow extension, Osteopenia, Clinodactyly of the 5th finger, Dislocated radial head, Worm...	OMIM:608739
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Short ribs, Short long bone, Esophageal diverticulum, Absent nasal ...	OMIM:617925
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Hypocalcemic seizures, Congenital hypopara...	OMIM:241410
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Postnatal growth retardation, Long nose, 11 pairs of ribs, Bicoronal synostosis, Tracheobronchoma...	OMIM:619184
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o...	OMIM:300554
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Neoplasm of the thyroid gland, Congestive heart failure, Arteriovenous malformation, Ovarian neop...	ORPHA:137608
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Femoral bowing, Glossoptosis, Micromelia, Dumbbell-shaped long bone, Micrognathia, Me...	ORPHA:440354
Acrocapitofemoral Dysplasia	Flared iliac wing, Micromelia, Abnormal femoral neck morphology, Short palm, Cone-shaped metacarp...	ORPHA:63446
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o...	OMIM:241530
Chondrodysplasia Punctata 1, X-Linked Recessive	Short nose, Short nasal septum, Epiphyseal stippling, Anosmia, Short stature, Short distal phalan...	OMIM:302950
Congenital Myopathy 21 With Early Respiratory Failure	Intrauterine growth retardation, Respiratory failure, Lipoid pneumonia	OMIM:620326
Chand Syndrome	Atelectasis, Agenesis of maxillary incisor, Short fifth metatarsal, Abnormal oral frenulum morpho...	ORPHA:1401
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure, Tongue fasciculations, Tongue atrophy	OMIM:613435
Cataract-Intellectual Disability-Hypogonadism Syndrome	Short philtrum, Tooth malposition, High palate, Everted lower lip vermilion, Furrowed tongue, Abn...	ORPHA:1387
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses	OMIM:166740
Primary Pulmonary Hypoplasia	Pneumothorax, Patellar hypoplasia, Recurrent respiratory infections, Micrognathia, Cleft palate, ...	ORPHA:2257
Cutis Laxa, Autosomal Recessive, Type Iia	Short nose, Long philtrum, Wide anterior fontanel, Anteverted nares, High palate, Narrow mouth, C...	OMIM:219200
Antley-Bixler Syndrome	Short nose, Anteverted nares, Delayed cranial suture closure, Femoral bowing, Narrow mouth, Choan...	ORPHA:83
Spondyloepiphyseal Dysplasia, Kimberley Type	Abnormal epiphysis morphology, Osteoarthritis, Proportionate short stature, Micromelia	ORPHA:93283
Aarskog-Scott Syndrome	Delayed puberty, Radial deviation of finger, Syndactyly, Broad philtrum, Joint hypermobility, Sho...	OMIM:305400
Bilateral Perisylvian Polymicrogyria	Choanal atresia, Protruding tongue, Micrognathia, Distal arthrogryposis, Flexion contracture, Int...	ORPHA:98889
Myhre Syndrome	Radial deviation of finger, Hypoplastic iliac wing, Short long bone, Joint stiffness, Intrauterin...	OMIM:139210
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
Melanocytic Nevus Syndrome, Congenital	Short nose, Narrow nasal ridge, Anteverted nares, Everted lower lip vermilion, Broad nasal tip, O...	OMIM:137550
Robin Sequence With Cleft Mandible And Limb Anomalies	Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp...	OMIM:268305
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Short thumb, Intrauterine growth retardation	OMIM:609054
Alg3-Cdg	Abnormality of the nose, Osteopenia, Neural tube defect, High palate, Abnormal uvula morphology, ...	ORPHA:79321
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Pulmonary hypoplasia	OMIM:615228
4Q21 Microdeletion Syndrome	Thin vermilion border, Short philtrum, Abnormality of the dentition, Micromelia, Growth delay, Sh...	ORPHA:238750
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Short nose, Proximal placement of thumb, Tracheomalacia, Wide anterior fontanel, Anteverted nares...	OMIM:217980
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Pneumocystosis	Respiratory failure requiring assisted ventilation, Acute infectious pneumonia, Respiratory insuf...	ORPHA:723
Meckel Syndrome, Type 3	Occipital encephalocele, Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of...	OMIM:607361
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Chromosome 13Q33-Q34 Deletion Syndrome	Anencephaly, Overlapping toe, Advanced eruption of teeth, Encephalocele, Short philtrum, Choanal ...	OMIM:619148
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Short nose, Long philtrum, Dental crowding, High palate, Narrow mouth, Camptodactyly, Bilateral t...	OMIM:615539
Familial Idiopathic Dilatation Of The Right Atrium	Cardiomegaly, Abnormal cardiac ventricular function, Abnormality of the hepatic vasculature, Mids...	ORPHA:1677
Chromosome 19Q13.11 Deletion Syndrome, Distal	Postnatal growth retardation, Retrognathia, Short nose, Thin vermilion border, Clinodactyly of th...	OMIM:613026
Developmental And Epileptic Encephalopathy 31B	Gingival overgrowth, Protruding tongue	OMIM:620352
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Short nose, Hammertoe, Exaggerated cupid's bow, High palate, Short stature, Micrognathia, Deep ph...	OMIM:619833
Osteogenesis Imperfecta, Type Vii	Crumpled long bones, Death in infancy, Multiple prenatal fractures, Dentinogenesis imperfecta, Lo...	OMIM:610682
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi...	OMIM:619534
Multiple Endocrine Neoplasia Type 1	Adrenocortical abnormality, Reduced bone mineral density, Pheochromocytoma, Pituitary growth horm...	ORPHA:652
Fetal Valproate Spectrum Disorder	Thin vermilion border, Short nose, Narrow mouth, Depressed nasal ridge, Downturned corners of mou...	ORPHA:1906
Facial Paresis, Hereditary Congenital, 3	Short nose, Short philtrum, Anteverted nares, High palate, Micrognathia, Downturned corners of mo...	OMIM:614744
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormal metaphysis morphology, Narrow greater sciatic notch, Short iliac bones, Genu valgum, Abn...	ORPHA:93316
Lethal Congenital Contracture Syndrome 9	Short umbilical cord, Axillary pterygium, Anteverted nares, Wrist flexion contracture, Congenital...	OMIM:616503
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr...	ORPHA:30391
Gomez-Lopez-Hernandez Syndrome	Short nose, Thin vermilion border, Wide anterior fontanel, Anteverted nares, High palate, Short s...	OMIM:601853
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Short nose, 2-3 toe syndactyly, High palate, Hypoplasia of the maxilla, Long fingers, Respiratory...	OMIM:218000
Phocomelia, Schinzel Type	Aplasia/Hypoplasia involving the pelvis, Tracheoesophageal fistula, Intrauterine growth retardati...	ORPHA:2879
Bainbridge-Ropers Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Retrognathia, Dental crowdin...	OMIM:615485
16P11.2P12.2 Microdeletion Syndrome	Long nose, Short nose, Orofacial cleft, Proximal placement of thumb, Anteverted nares, Short stat...	ORPHA:261211
Spondylodysplastic Ehlers-Danlos Syndrome	Subluxation of the small joints of the hand, Abnormal femoral head morphology, Abnormal finger mo...	ORPHA:536471
Bartsocas-Papas Syndrome	Popliteal pterygium, Short nose, Finger syndactyly, Narrow mouth, Synostosis of joints, Aplasia/H...	ORPHA:1234
Omodysplasia 1	Disproportionate short-limb short stature, Limited knee extension, Short humerus, Umbilical herni...	OMIM:258315
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hand clenching, Protruding tongue	OMIM:619580
Congenital Disorder Of Glycosylation, Type Iig	Short long bone, Glossoptosis, Broad femoral neck, Long philtrum, Intrauterine growth retardation...	OMIM:611209
Distal Limb Deficiencies-Micrognathia Syndrome	Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o...	ORPHA:1307
Pfeiffer Syndrome Type 1	Short nose, Short hallux, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Bicoronal synostosi...	ORPHA:93258
Even-Plus Syndrome	Short nose, Bifid nasal tip, High palate, Depressed nasal ridge, Anal atresia, Epiphyseal dysplas...	OMIM:616854
Mesomelic Dysplasia, Kantaputra Type	Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Cubitus valgus, Du...	ORPHA:1836
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Short nose, Growth delay, Shortening of all distal phalanges of the fingers, Cleft palate, Broad ...	OMIM:615716
Auriculocondylar Syndrome 2A	Short mandibular rami, Mandibular condyle hypoplasia, Dental crowding, Temporomandibular joint an...	OMIM:614669
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Short nose, Narrow nasal bridge, Low hanging columella, Anteverted nares, Delayed cranial suture ...	OMIM:619383
Orofaciodigital Syndrome Type 2	Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod...	ORPHA:2751
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Rhizomelia, Angulated humerus, Short long bone, Bowing of the long bones, Tooth agene...	OMIM:616229
Combined Oxidative Phosphorylation Deficiency 8	Death in childhood, Pulmonary hypoplasia, Neonatal death, Death in infancy	OMIM:614096
Cirrhotic Cardiomyopathy	Left atrial enlargement, Prolonged QT interval, Conjunctival icterus, Third heart sound, Ascites,...	ORPHA:57777
Fibrochondrogenesis	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Respiratory insufficiency, Wide an...	ORPHA:2021
Thanatophoric Dysplasia Type 2	Abnormal metaphysis morphology, Encephalocele, Respiratory insufficiency, Limitation of joint mob...	ORPHA:93274
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Respiratory failure, Death in infancy	OMIM:616277
X-Linked Hypophosphatemia	Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis,...	ORPHA:89936
Dyggve-Melchior-Clausen Disease	Abnormal hip bone morphology, Abnormal femoral head morphology, Short long bone, Limited knee ext...	ORPHA:239
Cardiomyopathy, Familial Restrictive, 3	Reduced left ventricular ejection fraction, Aortic aneurysm, Abnormal ST segment, Myocardial sarc...	OMIM:612422
Oculodentodigital Dysplasia	Broad alveolar ridges, Tooth agenesis, Umbilical hernia, Clinodactyly, Taurodontia, Cranial hyper...	ORPHA:2710
Desmosterolosis	Abnormality of the nose, Retrognathia, Short nose, Osteopetrosis, Increased bone mineral density,...	ORPHA:35107
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Short nose, Genu valgum, Abnormal metacarpal morphology, Anosmia, Jo...	ORPHA:1295
Tetrasomy 12P	Short nose, Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Anteverted...	ORPHA:884
Genitopatellar Syndrome	Long philtrum, Knee flexion contracture, Delayed eruption of teeth, Wide nose, Hypoplastic ilia, ...	ORPHA:85201
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia	OMIM:618913
Dent Disease 2	Hypophosphatemia, Elevated circulating creatine kinase concentration	OMIM:300555
Spondyloepimetaphyseal Dysplasia, Shohat Type	Narrow greater sciatic notch, Thin vermilion border, Disproportionate short-limb short stature, F...	OMIM:602557
Cystinosis	Rickets, Delayed puberty, Hypokalemia, Nephrogenic diabetes insipidus, Hypothyroidism, Hypophosph...	ORPHA:213
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Mesomelia, Syndactyly, Long philtrum, Clinodactyly, Triangular mouth, Anteverted nar...	OMIM:616894
Mosaic Variegated Aneuploidy Syndrome 2	Abnormal lung lobation, Short nose, Rhizomelia, Clinodactyly of the 5th finger, Severe intrauteri...	OMIM:614114
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Mesomelic short stature, Metatarsus adductus, Short stature, Radi...	OMIM:163400
Phosphoribosylaminoimidazole Carboxylase Deficiency	Short nose, Bilateral choanal atresia, Clinodactyly of the 5th finger, Esophageal atresia, Anteve...	OMIM:619859
20Q11.2 Microduplication Syndrome	Limited elbow extension, Retrognathia, Short nose, Tented philtrum, Clinodactyly of the 5th finge...	ORPHA:363659
Sporadic Pheochromocytoma/Secreting Paraganglioma	Adrenal pheochromocytoma, Paraganglioma of head and neck, Hypercalcemia, Paraganglioma, Extraadre...	ORPHA:276621
Maternal Uniparental Disomy Of Chromosome 2	Postnatal growth retardation, Respiratory infections in early life, Clinodactyly of the 5th finge...	ORPHA:96179
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Meige Disease	Facial edema, Edema of the dorsum of hands, Pedal edema, Predominantly lower limb lymphedema, Lym...	ORPHA:90186
Baker-Gordon Syndrome	Short nose, Prominent nasal tip, Smooth philtrum, Joint hypermobility, Thin upper lip vermilion	OMIM:618218
Acrofrontofacionasal Dysostosis	Dimple on nasal tip, Non-midline cleft of the upper lip, High palate, Abnormal epiphysis morpholo...	ORPHA:1784
Refractory Celiac Disease	Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia	ORPHA:398063
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Postnatal growth retardation, Short nose, Osteopenia, Pathologic fracture, Anteverted nares, Elbo...	OMIM:612394
Meckel Syndrome, Type 4	Anencephaly, Encephalocele, Meningocele, Bile duct proliferation, Atrial septal defect, Ventricul...	OMIM:611134
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Short finger, Rhizomelia, Irregular epiphyses, Mandibular prognathia, Broad thumb, Mesomelia, Met...	OMIM:612813
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Ventilator dependence with inability to wean, Camptodactyly of finger, Intrauterine growth retard...	OMIM:604320
Interstitial Pneumonitis, Desquamative, Familial	Respiratory failure, Recurrent upper respiratory tract infections, Desquamative interstitial pneu...	OMIM:263000
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Short nose, Long philtrum, Thin vermilion border, Clinodactyly of the 5th finger, Anteverted nare...	OMIM:614701
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Short nose, Growth delay, Camptodactyly of finger, Micrognathia, Prominent nasal bridge, Brachyda...	ORPHA:2083
22Q11.2 Deletion Syndrome	Multiple suture craniosynostosis, Intestinal malrotation, Arachnodactyly, Umbilical hernia, Intra...	ORPHA:567
Orofaciodigital Syndrome Type 10	Retrognathia, Mesomelic arm shortening, Oligodactyly, Prominent calcaneus, Long philtrum, Accesso...	ORPHA:2756
Acromesomelic Dysplasia 1	Limited elbow extension, Hypoplasia of the radius, Broad finger, Short nose, Short metatarsal, Di...	OMIM:602875
Pfeiffer Syndrome Type 2	Short nose, Deviation of the thumb, Short hallux, Finger syndactyly, Tracheomalacia, Limitation o...	ORPHA:93259
Marshall Syndrome	Short nose, Genu valgum, Thick lower lip vermilion, Anteverted nares, High palate, Abnormality of...	ORPHA:560
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins, Ventri...	OMIM:126320
Phace Syndrome	Abnormal carotid artery morphology, Retinal vascular malformation, Aortic root aneurysm, Capillar...	ORPHA:42775
Baller-Gerold Syndrome	Short nose, Abnormal carpal morphology, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the...	ORPHA:1225
Hyperparathyroidism-Jaw Tumor Syndrome	Thyroid carcinoma, Elevated circulating parathyroid hormone level, Osteoporosis, Primary hyperpar...	ORPHA:99880
3C Syndrome	Postnatal growth retardation, Short nose, Orofacial cleft, High, narrow palate, Abnormal hip bone...	ORPHA:7
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Fibular hypoplasia, Disproportionate short stature, Abnormal tibia morpho...	ORPHA:2634
Meier-Gorlin Syndrome 6	Delayed puberty, Short nose, Emphysema, Sandal gap, Anteverted nares, Underdeveloped nasal alae, ...	OMIM:616835
Spondylometaphyseal Dysplasia, A4 Type	Limitation of joint mobility, Coxa vara, Micromelia, Short palm, Severe short stature	ORPHA:168555
Multiple Pterygium Syndrome, Escobar Variant	Rocker bottom foot, Dislocated radial head, Arachnodactyly, Syndactyly, Umbilical hernia, Long ph...	OMIM:265000
Hypomandibular Faciocranial Dysostosis	Short nose, Anteverted nares, Maxillozygomatic hypoplasia, Narrow mouth, Death in infancy, Bifid ...	ORPHA:1790
Achondrogenesis, Type Ii	Short tubular bones of the hand, Stillbirth, Long philtrum, Disproportionate short-limb short sta...	OMIM:200610
Ppoma	Increased circulating gonadotropin level, Adrenocortical adenoma, Primary hyperparathyroidism, Pi...	ORPHA:97278
Fetal Alcohol Syndrome	Short nose, Anteverted nares, Non-midline cleft of the upper lip, Microdontia, Short stature, Joi...	ORPHA:1915
Intellectual Developmental Disorder, Autosomal Dominant 1	Retrognathia, Sandal gap, Everted lower lip vermilion, Microdontia, Wide mouth, Short stature, Sh...	OMIM:156200
Premature Aging Syndrome, Penttinen Type	Retrognathia, Tibial bowing, Aplasia of the nasal bone, Flexion contracture of finger, Short dist...	OMIM:601812
Meier-Gorlin Syndrome 4	Thick lower lip vermilion, Emphysema, Slender long bone, Genu recurvatum, Narrow mouth, Hypoplasi...	OMIM:613804
Grant Syndrome	Tibial bowing, Down-sloping shoulders	OMIM:138930
Non-Distal Duplication 13Q	Short nose, Thin vermilion border, Postaxial hand polydactyly, Everted lower lip vermilion, Abnor...	ORPHA:1702
Proteus-Like Syndrome	Venous insufficiency, Retinal detachment, Heterochromia iridis, Cataract, Subcutaneous lipoma, He...	ORPHA:2969
Phace Association	Optic atrophy, Subglottic hemangioma, Vascular dilatation, Aortic aneurysm, Optic nerve hypoplasi...	OMIM:606519
Osteopetrosis, Autosomal Recessive 5	Stillbirth, Hip subluxation, Cranial hyperostosis, Osteopetrosis, Flared metaphysis, Increased bo...	OMIM:259720
Keutel Syndrome	Wide nose, Underdeveloped nasal alae, Pulmonary artery stenosis, Short stature, Recurrent sinusit...	ORPHA:85202
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Abnormal metaphysis morphology, Retrognathia, Disproportionate short stature, Clinodactyly of the...	ORPHA:2637
Holzgreve Syndrome	Abnormal metacarpal morphology, Abnormally ossified vertebrae, Joint stiffness, Hand polydactyly,...	ORPHA:2167
Hereditary Pheochromocytoma-Paraganglioma	Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Elevated circulating calcitonin concentr...	ORPHA:29072
Osteogenesis Imperfecta, Type X	Osteopenia, Genu valgum, Fibular bowing, Rhizomelia, Death in childhood, Tibial bowing, Bowing of...	OMIM:613848
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Narrow greater sciatic notch, Limited elbow movement, Long nose, Enlarged metaphyses, Short metac...	ORPHA:508533
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Achilles tendon contracture, Respiratory failure, Macroglossia, Elbow contracture, Vertebral fusion	OMIM:606612
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Retrognathia, Short nose, Clinodactyly of the 5th finger, Sandal gap, Short philtrum, Dental crow...	OMIM:617061
Nicolaides-Baraitser Syndrome	Broad distal phalanx of finger, Wide nasal base, Sandal gap, Broad 2nd toe, Short metacarpal, Eve...	OMIM:601358
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of the lymphatic syst...	ORPHA:1414
Ophthalmomandibulomelic Dysplasia	Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Temporomandibu...	OMIM:164900
Linear Verrucous Nevus Syndrome	Reduced bone mineral density, Hypophosphatemia	ORPHA:2611
Idiopathic Pulmonary Hemosiderosis	Ground-glass opacification, Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Pul...	ORPHA:99931
Meckel Syndrome, Type 1	Occipital encephalocele, Large placenta, Vascular dilatation, Anencephaly, Accessory spleen, Abno...	OMIM:249000
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Genu valgum, Reduced bone mineral density, Small epiphyses, Upper limb un...	ORPHA:94068
Brachyolmia Type 1, Hobaek Type	Short iliac bones, Osteopenia, Flattened proximal radial epiphyses, Short long bone, Flat acetabu...	OMIM:271530
Difference Of Sex Development-Intellectual Disability Syndrome	Short nose, Thin vermilion border, Reduced bone mineral density, Genu valgum, Short philtrum, Spi...	ORPHA:2983
Parathyroid Carcinoma	Parathyroid carcinoma, Thyroid carcinoma, Elevated circulating parathyroid hormone level, Primary...	ORPHA:143
Agnathia-Otocephaly Complex	Wide nose, Tracheomalacia, Narrow mouth, Mandibular aplasia, Micrognathia, Cleft palate, Pulmonar...	OMIM:202650
Lethal Acantholytic Erosive Disorder	Clinodactyly of the 5th finger, 4-5 finger syndactyly, Camptodactyly of toe, Natal tooth, Cleft p...	ORPHA:158687
Somatostatinoma	Increased circulating gonadotropin level, Adrenocortical adenoma, Primary hyperparathyroidism, Pi...	ORPHA:97283
Spondyloepimetaphyseal Dysplasia, Shohat Type	Fibular overgrowth, Disproportionate short stature, Generalized bone demineralization, Flared met...	ORPHA:93352
Hypertrichosis Cubiti	Rhizomelia, Micromelia, Prominent nasal bridge, Severe short stature, Abnormality of the elbow, J...	ORPHA:2220
Coxoauricular Syndrome	Abnormal femur morphology, Reduced bone mineral density, Abnormal pelvic girdle bone morphology, ...	ORPHA:1508
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Jaundice, Cholangitis, Periportal fibrosis, Hypertension, Cholestasi...	ORPHA:731
Restrictive Dermopathy 1	Rocker bottom foot, Narrow nasal ridge, Temporomandibular joint ankylosis, Overtubulated long bon...	OMIM:275210
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Short nose, Limitation of joint mobility, Camptodactyly of finger, Micrognathia, Duodenal stenosi...	ORPHA:2547
Cranioectodermal Dysplasia 2	Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cholangit...	OMIM:613610
Orofaciodigital Syndrome Xv	Anteverted nares, Postaxial hand polydactyly, Duplication of phalanx of hallux, Midline notch of ...	OMIM:617127
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole...	ORPHA:567983
Liver Disease, Severe Congenital	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ...	OMIM:619991
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Protruding tongue	OMIM:614325
Joubert Syndrome 6	Hepatic fibrosis, Chorioretinal coloboma, Retinal degeneration, Bile duct proliferation	OMIM:610688
Arterial Tortuosity Syndrome	Rocker bottom foot, Short nose, Abnormal zygomatic bone morphology, Clinodactyly of the 5th finge...	ORPHA:3342
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Smith-Magenis Syndrome	Delayed puberty, Short nose, Clinodactyly of the 5th finger, Short philtrum, Anteverted nares, Ma...	ORPHA:819
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Respiratory failure, Depressed nasal bridge, Epiphyseal stippling	OMIM:614862
Arterial Calcification, Generalized, Of Infancy, 2	Congestive heart failure, Reduced left ventricular ejection fraction, Hypertension, Sinus tachyca...	OMIM:614473
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short nose, Aganglionic megacolon, Short philtrum, Anteriorly placed anus, Delayed ossification o...	OMIM:239300
Intellectual Disability-Strabismus Syndrome	Rocker bottom foot, Short nose, Narrow nasal ridge, Limitation of joint mobility, Abnormality of ...	ORPHA:363528
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Disproportionate short-limb short stature, Femoral bowing, Short long bone, Metaphyseal irregular...	OMIM:618019
Spinal Cord Injury	Hypercalcemia	ORPHA:90058
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, I...	OMIM:601678
Fetal Hydantoin Syndrome	Short nose, Triphalangeal thumb, Everted lower lip vermilion, Depressed nasal ridge, Short statur...	ORPHA:1912
Congenital Myopathy 10B, Mild Variant	High palate, Recurrent pneumonia, Knee contracture, Achilles tendon contracture, Cleft palate, Re...	OMIM:620249
Kagami-Ogata Syndrome	Retrognathia, Anteverted nares, Hypoplasia of the maxilla, Long fingers, Micrognathia, Pulmonary ...	OMIM:608149
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Thick lower lip vermilion, Anteverted nares, Long hallux, Tented upper lip vermilion,...	OMIM:619854
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Congenital bilateral hip dislocation, Tibial bowing, Micrognathia, Limb under...	ORPHA:453510
Acromesomelic Dysplasia 4	Sandal gap, Short metacarpal, Mesomelia, Umbilical hernia, Metaphyseal irregularity, Prominent de...	OMIM:619636
Marshall-Smith Syndrome	Short mandibular rami, Retrognathia, Prominent fingertip pads, Glossoptosis, Microdontia, Eclabio...	OMIM:602535
Trisomy 12P	Short nose, Clinodactyly of the 5th finger, Everted lower lip vermilion, Anal atresia, Short stat...	ORPHA:1699
Albers-Schönberg Osteopetrosis	Hypocalcemia, Arthritis, Recurrent fractures, Osteoarthritis, Generalized osteosclerosis, Mandibu...	ORPHA:53
Spondylospinal Thoracic Dysostosis	Multiple pterygia, Hypoplasia of the maxilla, Micrognathia, Pulmonary hypoplasia, Arthrogryposis ...	OMIM:601809
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Death in childhood, Chylothorax, Mandibular prognathia, High palate, Death in infancy, Knee contr...	OMIM:620278
Cartilage-Hair Hypoplasia	Abnormal bone ossification, Abnormal hip bone morphology, Disproportionate short-limb short statu...	ORPHA:175
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hepatic arteriovenous malformation, Gastrointestinal carcinoma, Anemia, Aortic aneurysm, Telangie...	OMIM:175050
Combined Oxidative Phosphorylation Deficiency 37	Decreased liver function, Optic atrophy, Elevated circulating hepatic transaminase concentration,...	OMIM:618329
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short stature, Short nose	OMIM:245570
Fetal Trimethadione Syndrome	Short nose, High palate, Micrognathia, Intrauterine growth retardation, Depressed nasal bridge	ORPHA:1913
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Thin vermilion border, Patellar hypoplasia, Recurrent respiratory infections, Flexion contracture...	ORPHA:3041
Proximal Spinal Muscular Atrophy	Multiple joint contractures, Tongue fasciculations, Elbow flexion contracture, Respiratory insuff...	ORPHA:70
Severe Congenital Nemaline Myopathy	Adducted thumb, Multiple prenatal fractures, Pulmonary hypoplasia, Flexion contracture, Respirato...	ORPHA:171430
Microphthalmia With Limb Anomalies	Sandal gap, Tibial bowing, Short long bone, Death in infancy, Broad thumb, Hypoplasia of the prem...	ORPHA:1106
Trigonocephaly 1	Short nose, High, narrow palate, Meckel diverticulum, Metopic synostosis, Long philtrum, Craniosy...	OMIM:190440
Staphylococcal Necrotizing Pneumonia	Pneumothorax, Pulmonary pneumatocele, Acute infectious pneumonia, Pleural empyema, Pleural effusi...	ORPHA:36238
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Postnatal growth retardation, Clinodactyly of the 5th finger, Hip dysplasia, Tapered finger, Tali...	OMIM:617219
Tarp Syndrome	Rocker bottom foot, Hypoplasia of the radius, Meckel diverticulum, Anteverted nares, Glossoptosis...	OMIM:311900
Carey-Fineman-Ziter Syndrome	Short nose, Long philtrum, Thin vermilion border, Anteverted nares, Glossoptosis, High palate, Sh...	ORPHA:1358
Distal Duplication 5Q	Hypoplasia of the ulna, Hypoplasia of the radius, Short nose, Thin vermilion border, Narrow mouth...	ORPHA:96097
Orofaciodigital Syndrome Iv	Short finger, Hamartoma of tongue, Tongue nodules, High palate, Foot polydactyly, Postaxial polyd...	OMIM:258860
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Finger syndactyly, Hypodontia, Adactyly, Split hand, High palate, ...	ORPHA:989
Grfoma	Increased circulating gonadotropin level, Adrenocortical adenoma, Pheochromocytoma, Neoplasm of t...	ORPHA:97261
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Rickets, Diabetes mellitus, Hypophosphatemia	OMIM:616026
Autosomal Recessive Multiple Pterygium Syndrome	Symphalangism affecting the phalanges of the hand, Umbilical hernia, Long philtrum, Intrauterine ...	ORPHA:2990
Gaucher Disease, Perinatal Lethal	Retrognathia, Short nose, Everted upper lip vermilion, Anteverted nares, Narrow mouth, Everted lo...	OMIM:608013
Kinsship Syndrome	Dislocated radial head, Death in infancy, Respiratory arrest, Mesomelia, Wide mouth, Coxa valga, ...	OMIM:619297
Combined Oxidative Phosphorylation Deficiency 4	Intrauterine growth retardation, Respiratory failure, Death in infancy	OMIM:610678
Fg Syndrome 5	Short nose, Anteverted nares, Long philtrum, Metopic synostosis, Diastema, Depressed nasal bridge	OMIM:300581
Fetal Akinesia Deformation Sequence 1	Rocker bottom foot, Wrist flexion contracture, Long philtrum, Intrauterine growth retardation, Sm...	OMIM:208150
Meckel Syndrome, Type 8	Polydactyly, Occipital encephalocele, Short nose, Encephalocele, Depressed nasal ridge, Cleft upp...	OMIM:613885
Mosaic Trisomy 1	Rocker bottom foot, Broad 2nd toe, Arachnodactyly, Wide mouth, Long toe, Deviation of the 5th toe...	ORPHA:1692
Infantile Systemic Hyalinosis	Osteopenia, Steatorrhea, Gingival overgrowth, Osteoporosis, Micromelia, Growth delay, Camptodacty...	ORPHA:2176
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Short nose, Aganglionic megacolon, Anal stenosis, Anal atresia, Growth delay, Shortening of all d...	OMIM:614749
Hypocalcemic Vitamin D-Dependent Rickets	Postnatal growth retardation, Rickets, Delayed epiphyseal ossification, Delayed eruption of teeth...	ORPHA:289157
Kenny-Caffey Syndrome, Type 1	Calvarial osteosclerosis, Congenital hypoparathyroidism, Hypocalcemia, Decreased skull ossificati...	OMIM:244460
3P25.3 Microdeletion Syndrome	Proximal placement of thumb, Broad thumb, Overlapping toe, Short philtrum, Anteverted nares, Clef...	ORPHA:435638
Prader-Willi Syndrome Due To Translocation	Retrognathia, Everted lower lip vermilion, Bifid uvula, Wide mouth, Intrauterine growth retardati...	ORPHA:177907
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Abnormal columella morphology, Abnormal finger morphology, Underdeveloped na...	ORPHA:436003
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia, Hypophosphatemia, Hypokalemia	OMIM:134600
Intellectual Developmental Disorder, X-Linked 21	Short nose, Dental crowding, Mandibular prognathia, Tented upper lip vermilion, Open mouth, Joint...	OMIM:300143
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Narrow palate, Tapered toe, Long toe, Respiratory insufficiency, Elbow flexion contracture, Nasal...	OMIM:608836
Congenital Myopathy 22B, Severe Fetal	Retrognathia, Short nose, Tapered toe, Triangular mouth, Slender long bone, Shoulder flexion cont...	OMIM:620369
Saul-Wilson Syndrome	Postnatal growth retardation, Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the...	OMIM:618150
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Narrow palate, Retrognathia, Short nose, Short philtrum, Hypodontia, Tapered finger, Narrow mouth...	OMIM:620250
8P23.1 Microdeletion Syndrome	Short nose, Thin vermilion border, Proximal placement of thumb, High palate, Broad thumb, Pulmona...	ORPHA:251071
Robinow Syndrome	Mesomelic arm shortening, Acromesomelia, Broad alveolar ridges, Dental crowding, Mesomelia, Bifid...	ORPHA:97360
Al-Raqad Syndrome	Short nose, Sandal gap, Narrow mouth, Brachydactyly, Joint hypermobility, Thin upper lip vermilion	OMIM:616459
Distal Deletion 10Q	Sandal gap, Prominent fingertip pads, Craniosynostosis, Clinodactyly, Hip dislocation, 2-3 toe cu...	ORPHA:96148
Severe X-Linked Intellectual Disability, Gustavson Type	Rocker bottom foot, Short nose, Triphalangeal thumb, Severe postnatal growth retardation, Calcane...	ORPHA:3078
Baraitser-Winter Syndrome 1	Postnatal growth retardation, Retrognathia, Short nose, Orofacial cleft, Anteverted nares, Duplic...	OMIM:243310
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Short nose, Death in childhood, Low insertion of columella, Anteverted nares, Underdeveloped nasa...	OMIM:619005
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cubitus valgus, Mandibular prognathia, High palate, Furrowed tongue, Hypoplasia of the maxilla, S...	OMIM:300534
Nabais Sa-De Vries Syndrome, Type 1	Short nose, Clinodactyly of the 5th finger, Prominent nasal bridge, Smooth philtrum, Neonatal res...	OMIM:618828
Meier-Gorlin Syndrome 1	Absent sternal ossification, Short ribs, Microdontia, Death in infancy, Intrauterine growth retar...	OMIM:224690
Dent Disease 1	Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement ...	OMIM:300009
Chromosome 1Q41-Q42 Deletion Syndrome	Widely spaced teeth, Sandal gap, Short philtrum, Anteverted nares, High palate, Short stature, Cl...	OMIM:612530
Gm1 Gangliosidosis	Abnormal metaphysis morphology, Long philtrum, Abnormal diaphysis morphology, Mandibular prognath...	ORPHA:354
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Malan Syndrome	Retrognathia, Advanced eruption of teeth, Short nose, Mandibular prognathia, Gingival overgrowth,...	OMIM:614753
Muscular Dystrophy, Congenital, 1B	Respiratory failure, Achilles tendon contracture	OMIM:604801
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Congestive heart failure, Jaundice, Hydrops fetalis, Anemi...	ORPHA:846
Cohen Syndrome	Delayed puberty, Abnormal hip bone morphology, Sandal gap, Tooth agenesis, Arachnodactyly, Intrau...	ORPHA:193
Campomelic Dysplasia	Disproportionate short-limb short stature, Absent sternal ossification, Dislocated radial head, H...	OMIM:114290
Combined Oxidative Phosphorylation Deficiency 52	Respiratory failure, Death in infancy	OMIM:619386
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly, Short nose, Anteverted nares, High palate, Aspiration pneumonia, Prominent metopic r...	ORPHA:314655
Alg9-Cdg	Narrow greater sciatic notch, Abnormal bone ossification, Low insertion of columella, Short long ...	ORPHA:79328
Autosomal Dominant Robinow Syndrome	Retrognathia, Severe short stature, Umbilical hernia, Long philtrum, Anodontia, Coxa valga, Hip d...	ORPHA:3107
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Hypocalcemia, Increased bone mineral density, Hyp...	OMIM:127000
Congenital Myopathy 17	Overlapping fingers, Respiratory insufficiency, Mandibular prognathia, High palate, Hand clenchin...	OMIM:618975
Oculodentodigital Dysplasia	Joint contracture of the 5th finger, Broad alveolar ridges, Microdontia, Clinodactyly, Narrow nos...	OMIM:164200
Pheochromocytoma	Pheochromocytoma, Hypercalcemia	OMIM:171300
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto...	OMIM:609441
Scimitar Syndrome	Mitral atresia, Left-to-right shunt, Abnormal heart morphology, Interrupted inferior vena cava wi...	ORPHA:185
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Ground-glass opacification, Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent lo...	OMIM:620233
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Carpal bone hypoplasia, Irregular epiphyses, Small epiphyses, Metaphyseal striations, Flared meta...	OMIM:610442
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Short nose, Osteopenia, Lambdoidal craniosynostosis, Anteverted nares, Hi...	OMIM:615398
Auriculocondylar Syndrome 4	Narrow mouth, Micrognathia, Cleft palate, Glossoptosis	OMIM:620457
Kyphomelic Dysplasia	Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Pterygium, Tibial bowing...	OMIM:211350
Multiple Endocrine Neoplasia Type 2	Elevated circulating parathyroid hormone level, Pheochromocytoma, Thyroid C cell hyperplasia, Pri...	ORPHA:653
Keutel Syndrome	Cartilaginous ossification of nose, Emphysema, Premature fusion of phalangeal epiphyses, Short ha...	OMIM:245150
Lethal Congenital Contracture Syndrome 1	Micrognathia, Neonatal death, Pulmonary hypoplasia, Arthrogryposis multiplex congenita	OMIM:253310
Trisomy 8Q	Orofacial cleft, Bone cyst, Non-midline cleft of the upper lip, High palate, Everted lower lip ve...	ORPHA:1752
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Polyhydramnios, Abnormal biliary tract morphology, Oligohyd...	ORPHA:3032
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Widely spaced teeth, Fractures of the long bo...	ORPHA:496641
Dyschondrosteosis-Nephritis Syndrome	Madelung deformity, Mesomelic short stature, Ulnar bowing, Microdontia, Micromelia, Short stature...	ORPHA:1765
Tarp Syndrome	Rocker bottom foot, Finger syndactyly, Anteverted nares, Glossoptosis, Alveolar ridge overgrowth,...	ORPHA:2886
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat...	ORPHA:99106
Dyggve-Melchior-Clausen Disease	Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape...	OMIM:223800
Autosomal Recessive Hypophosphatemic Rickets	Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Delayed eruption of teeth...	ORPHA:289176
Alkuraya-Kucinskas Syndrome	Overlapping fingers, Short nose, Anteverted nares, Pleural effusion, High palate, Camptodactyly, ...	OMIM:617822
Thymic Carcinoma	Palpebral edema, Mediastinal lymphadenopathy, Abnormal vena cava morphology, Neoplasm of the thym...	ORPHA:99868
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Dislocated radial head, Hypoplastic ischia, Aplasia/Hypoplasia o...	ORPHA:2839
Pontocerebellar Hypoplasia Type 1	Respiratory failure, Tongue fasciculations, Arthrogryposis multiplex congenita	ORPHA:2254
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short nose, Clinodactyly of the 5th finger, Meningocele, Respiratory insufficiency, Anteverted na...	ORPHA:2031
Campomelic Dysplasia	Fibular hypoplasia, 11 pairs of ribs, Poorly ossified cervical vertebrae, Tracheomalacia, Respira...	ORPHA:140
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Micromelia, Short stature, Shor...	ORPHA:2491
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Hypoplastic iliac wing, Tibial bowing, Intrauterine growth retardation, Short distal phalanx of f...	OMIM:210720
Foxg1 Syndrome Due To 14Q12 Microdeletion	Short nose, Mandibular prognathia, Everted lower lip vermilion, Prominent metopic ridge, Growth d...	ORPHA:261144
Congenital Multicore Myopathy With External Ophthalmoplegia	Joint hypermobility, Severe postnatal growth retardation, High palate, Flexion contracture, Tente...	ORPHA:98905
Poikiloderma With Neutropenia	Retrognathia, Short nose, Long philtrum, Underdeveloped nasal alae, Recurrent bronchopulmonary in...	OMIM:604173
Multiple Myeloma	Osteopenia, Hypercalcemia, Hyperproteinemia, Pathologic fracture, Elevated circulating creatinine...	ORPHA:29073
Donnai-Barrow Syndrome	Short nose, Wide anterior fontanel, Intestinal malrotation, Umbilical hernia, Depressed nasal bridge	ORPHA:2143
Monosomy 13Q34	Hypercalcemia	ORPHA:96168
Hereditary Hemorrhagic Telangiectasia	Tongue telangiectasia, Gastrointestinal hemorrhage, Arteriovenous malformation, Intestinal polypo...	ORPHA:774
Meckel Syndrome 14	Pneumothorax, Retrognathia, Occipital encephalocele, Anteverted nares, Postaxial hand polydactyly...	OMIM:619879
Heterotaxy, Visceral, 1, X-Linked	Biliary atresia, Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilat...	OMIM:306955
5Q14.3 Microdeletion Syndrome	Short nose, Short philtrum, Anteverted nares, Open mouth, Toe syndactyly	ORPHA:228384
Peho Syndrome	Short nose, Abnormal palate morphology, Anteverted nares, Gingival overgrowth, Limitation of join...	ORPHA:2836
Meckel Syndrome, Type 6	Occipital encephalocele, Anencephaly, Bile duct proliferation, Cystic liver disease, Absent gallb...	OMIM:612284
Combined Oxidative Phosphorylation Deficiency 11	Stillbirth, Death in childhood, Tongue fasciculations, Death in infancy, Neonatal death, Respirat...	OMIM:614922
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Cholelithiasis, Normochromic anemia, Bradycardia, Hypertrophic card...	OMIM:618775
Parkes Weber Syndrome	Spinal arteriovenous malformation, Hemangiomatosis, Arteriovenous malformation, Venous malformati...	ORPHA:90307
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe...	OMIM:208500
Leukodystrophy, Hypomyelinating, 10	Short nose, Thin vermilion border, Anteverted nares, Arachnodactyly, Malar flattening, Smooth phi...	OMIM:616420
Miller-Dieker Lissencephaly Syndrome	Polydactyly, Short nose, Clinodactyly of the 5th finger, Delayed eruption of teeth, Duodenal atre...	OMIM:247200
Lymphatic Malformation 7	Pulmonary edema, Facial edema, Atrial septal defect, Anemia, Chylothorax, Lymphedema, Pleural eff...	OMIM:617300
Glucagonoma	Increased circulating gonadotropin level, Adrenocortical adenoma, Primary hyperparathyroidism, Pi...	ORPHA:97280
Geleophysic Dysplasia 1	Short long bone, Wrist flexion contracture, Joint stiffness, Wide mouth, Long philtrum, Cone-shap...	OMIM:231050
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Short stature, Respiratory failure, Growth delay, Slender finger	OMIM:250940
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Short nose, Narrow nasal bridge, Hypodontia, Metacarpophalangeal joint contracture, Wrist hypermo...	ORPHA:544503
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	ORPHA:79095
Pontocerebellar Hypoplasia, Type 1B	Respiratory insufficiency, Tongue fasciculations, Growth delay, Flexion contracture, Tongue atrop...	OMIM:614678
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly, Bile duct proliferation	OMIM:611561
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Osteopenia, Hypoparathyroidism, Precocious puberty, Hypercalcemia, Joint hy...	ORPHA:369837
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypocalcemic seizures, Decreased response to growth hormone stimulation test, Elevate...	ORPHA:79444
Avian Influenza	Ground-glass opacification, Pneumothorax, Miscarriage, Pleural effusion, Pneumonia, Respiratory f...	ORPHA:454836
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l...	ORPHA:2256
Frank-Ter Haar Syndrome	Broad alveolar ridges, Short long bone, Wide mouth, Anteverted nares, Camptodactyly, Osteoporosis...	OMIM:249420
Meckel Syndrome, Type 2	Meningocele, Anencephaly, Encephalocele, Bile duct proliferation	OMIM:603194
Johanson-Blizzard Syndrome	Abnormal nostril morphology, Short nose, Delayed eruption of teeth, Oligodontia, Abnormality of t...	ORPHA:2315
Developmental And Epileptic Encephalopathy 89	Death in childhood, Anteverted nares, Neonatal death, Limb undergrowth, Depressed nasal bridge, M...	OMIM:619124
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Cousin Syndrome	Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, Me...	OMIM:260660
Coenzyme Q10 Deficiency, Primary, 8	Intrauterine growth retardation, Postnatal growth retardation, Pulmonary hypoplasia, Flexion cont...	OMIM:616733
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Postnatal growth retardation, Short nose, Long philtrum, Anteverted nares, High palate, Congenita...	ORPHA:357074
Neu-Laxova Syndrome 1	Rocker bottom foot, Radial deviation of finger, Swollen lip, Intrauterine growth retardation, Cli...	OMIM:256520
Stickler Syndrome	Reduced bone mineral density, Glossoptosis, Tooth agenesis, Arachnodactyly, Bifid uvula, Abnormal...	ORPHA:828
Ellis Van Creveld Syndrome	Microdontia, Abnormal oral frenulum morphology, Intrauterine growth retardation, Short distal pha...	ORPHA:289
Spondylocarpotarsal Synostosis Syndrome	Short metacarpal, Tarsal synostosis, Bowed humerus, Anteverted nares, Cleft palate, Block vertebr...	OMIM:272460
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Ane...	OMIM:613658
Trisomy 20P	Reduced bone mineral density, Abnormal hip bone morphology, Everted lower lip vermilion, Microdon...	ORPHA:261318
Pyruvate Dehydrogenase E1-Alpha Deficiency	Recurrent aspiration pneumonia, Limb undergrowth, Flexion contracture, Intrauterine growth retard...	ORPHA:79243
Czeizel-Losonci Syndrome	Spina bifida occulta, Hitchhiker thumb, High palate, Ectrodactyly, Myelomeningocele, Spina bifida...	ORPHA:2437
Pulmonary Alveolar Microlithiasis	Ground-glass opacification, Pneumothorax, Pleural thickening, Subpleural interstitial thickening,...	ORPHA:60025
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Short nose, Aganglionic megacolon, Interphalangeal thumb joint contracture, Prominent nasal bridg...	OMIM:613870
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Short nose, Dental malocclusion, High palate, Micrognathia, Recurrent respiratory inf...	ORPHA:329178
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Severe postnatal ...	ORPHA:319675
Genetic Recurrent Myoglobinuria	Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia	ORPHA:99845
1Q41Q42 Microdeletion Syndrome	Underdeveloped nasal alae, Short stature, Growth delay, Cleft palate, Broad nasal tip, Pulmonary ...	ORPHA:250999
Harel-Yoon Syndrome	Short nose, Micrognathia, Mandibular prognathia, Hip dysplasia	OMIM:617183
Acute Lung Injury	Abnormal pulmonary interstitial morphology, Diffuse alveolar hemorrhage, Pneumonia, Respiratory f...	ORPHA:178320
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Micromelia	OMIM:273680
Distal 22Q11.2 Microdeletion Syndrome	Sandal gap, Arachnodactyly, Joint hypermobility, Short distal phalanx of finger, Intrauterine gro...	ORPHA:261330
Pfeiffer Syndrome Type 3	Short nose, Short hallux, Finger syndactyly, Tracheomalacia, Limitation of joint mobility, Choana...	ORPHA:93260
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Disproportionate short-limb short stature, Micromelia, Decreased calvarial ossification, Intraute...	ORPHA:2772
D-Bifunctional Protein Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Polyhydramnios, Cholestasi...	OMIM:261515
Heterotaxy, Visceral, 7, Autosomal	Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor...	OMIM:616749
Nablus Mask-Like Facial Syndrome	Retrognathia, Short nose, Sandal gap, Short hallux, Anteverted nares, High palate, Everted lower ...	OMIM:608156
Zygomycosis	Pneumothorax, Atelectasis, Gastritis, Acute infectious pneumonia, Colon perforation, Pleural effu...	ORPHA:73263
Truncus Arteriosus	Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ...	ORPHA:3384
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormal cerebral vascular morphology, Pulmonary embolism, Retinopathy, Venous insufficiency	ORPHA:743
Colchicine Poisoning	Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con...	ORPHA:31824
Cardiomyopathy, Familial Hypertrophic, 26	Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br...	OMIM:617047
Combined Oxidative Phosphorylation Deficiency 25	Short nose, Anteverted nares, Aspiration pneumonia, Short stature, Syndactyly, Smooth philtrum, L...	OMIM:616430
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Short nose, Ankle flexion contracture, Recurrent lower respiratory tract infections, Micrognathia...	OMIM:617802
Stüve-Wiedemann Syndrome	Flexion contracture of finger, Intrauterine growth retardation, Elbow flexion contracture, Abnorm...	ORPHA:3206
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal shoulder morphology, Short metacarpal, Abnormal pelvic girdle bone morphology, Micromeli...	ORPHA:1422
Oncogenic Osteomalacia	Hypocalcemia, Pathologic fracture, Hypophosphatemia, Increased susceptibility to fractures	ORPHA:352540
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Respiratory insufficiency, Short long bone, Postaxial polydactyly, Brachydactyly, Recurrent respi...	OMIM:615633
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Short nose, Short philtrum, Anteverted nares, High palate, Broad hallux, Tented upper lip vermili...	OMIM:614105
Glycogen Storage Disease Due To Acid Maltase Deficiency	Atelectasis, Difficulty in tongue movements, Respiratory insufficiency, Osteoporosis, Respiratory...	ORPHA:365
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Femoral bowing, Short ribs, Short long bone, Acetabular spurs, Postaxial po...	OMIM:615503
Schwartz-Jampel Syndrome	Flexion contracture of toe, Wrist flexion contracture, Abnormally ossified vertebrae, Death in in...	ORPHA:800
Cutis Laxa-Marfanoid Syndrome	Emphysema, Limitation of joint mobility, Arachnodactyly, Flexion contracture, Hip dislocation	ORPHA:171719
Hypotonia-Cystinuria Syndrome	Hypocalcemia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism	OMIM:606407
Whim Syndrome	Atelectasis, Severe periodontitis, Parotitis, Bronchiectasis, Sinusitis, Recurrent pneumonia, Res...	ORPHA:51636
Linear Skin Defects With Multiple Congenital Anomalies 2	Short stature, Short nose, Sandal gap, Long philtrum	OMIM:300887
Boomerang Dysplasia	Fibular aplasia, Hypoplastic nasal septum, Hypoplastic iliac body, Neonatal death, Severe short s...	OMIM:112310
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia	ORPHA:476126
Acheiropody	Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to...	OMIM:200500
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Short nose, Clinodactyly of the 5th finger, Sandal gap, Downturned corners of mouth, Tented upper...	OMIM:618430
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Aplasia of the distal phalanx of the 5th toe, Everted lower lip vermilion, Long philtrum, Intraut...	OMIM:608670
Microcephaly-Capillary Malformation Syndrome	Short nose, Wide nose, Short stature, Hypoplasia of the maxilla, Cleft palate, Brachydactyly, Sho...	OMIM:614261
Lymphatic Malformation 6	Atrial septal defect, Facial edema, Intestinal lymphangiectasia, Polyhydramnios, Chylothorax, Gen...	OMIM:616843
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short nose, Short stature, Hypoplasia of the maxilla, Micrognathia, Cleft palate, Malar flattenin...	ORPHA:79113
Familial Multiple Nevi Flammei	Arteriovenous malformation, Venous insufficiency, Intracranial hemorrhage, Arrhythmia, Edema, Pul...	ORPHA:624
Mucolipidosis Ii Alpha/Beta	Short long bone, Flat acetabular roof, Flared iliac wing, Wide mouth, Bullet-shaped phalanges of ...	OMIM:252500
Aorta Coarctation	Bicuspid aortic valve, Perimembranous ventricular septal defect, Congestive heart failure, Cardio...	ORPHA:1457
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Tongue atrophy, Talipes equinovarus, Knee flexion contracture	ORPHA:496689
Faciodigitogenital Syndrome, Autosomal Recessive	Narrow palate, Short nose, Clinodactyly of the 5th finger, Anteverted nares, High palate, Camptod...	OMIM:227330
Cardiac Diverticulum	Abnormal coronary artery origin, Premature ventricular contraction, Aortic valve stenosis, Abnorm...	ORPHA:1686
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Rocker bottom foot, Delayed puberty, Proximal tibial and fibular fusion, Femoral bowing, Short me...	ORPHA:95699
Desmosterolosis	Short nose, Rhizomelia, Gingival fibromatosis, Anteverted nares, Total anomalous pulmonary venous...	OMIM:602398
Dpm1-Cdg	U-Shaped upper lip vermilion, High, narrow palate, Sandal gap, Camptodactyly, Long hallux, Microg...	ORPHA:79322
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Ground-glass opacification, Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Clubbing, Di...	ORPHA:79127
Catel-Manzke Syndrome	Low insertion of columella, Glossoptosis, Short metacarpal, Ulnar deviation of the 2nd finger, Sh...	OMIM:616145
Toriello-Carey Syndrome	Postnatal growth retardation, Short nose, Abnormal palate morphology, Aganglionic megacolon, Wide...	ORPHA:3338
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Retrognathia, Solitary median maxillary central incisor, Dental crowding, Contracture of the prox...	OMIM:301044
Congenital Varicella Syndrome	Intrauterine growth retardation, Micromelia	ORPHA:291
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Mandibular prognathia, Broad thumb, Mesomelia, Brachydactyly, Joint hypermobility, Ab...	ORPHA:171866
Encephalopathy Due To Sulfite Oxidase Deficiency	Long philtrum, Short nose, Thick vermilion border	ORPHA:833
Sanjad-Sakati Syndrome	Hypoparathyroidism, Congenital hypoparathyroidism, Hypocalcemia, Patchy osteosclerosis, Hyperphos...	ORPHA:2323
Alg1-Cdg	Respiratory failure, Protein-losing enteropathy, Limitation of joint mobility	ORPHA:79327
Osteogenesis Imperfecta	Intestinal obstruction, Abnormal femur morphology, Reduced bone mineral density, Abnormal hip bon...	ORPHA:666
Apert Syndrome	Convex nasal ridge, Narrow palate, Esophageal atresia, Aplasia/Hypoplasia of the thumb, Respirato...	ORPHA:87
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Difficulty in tongue movements, Mandibular condyle hy...	ORPHA:137888
Toluene Embryopathy	Short nose, Thin vermilion border, Short stature, Micrognathia, Smooth philtrum, Hypoplasia of th...	ORPHA:1920
Congenital Myopathy 1B, Autosomal Recessive	Respiratory insufficiency, High palate, Pulmonary hypoplasia, Joint hypermobility, Recurrent resp...	OMIM:255320
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Femoral bowing, Short ribs, Short long bone, Absent tibia, Intestinal malrotation, Cone-shaped ep...	OMIM:613091
Peho Syndrome	Retrognathia, Short nose, Tented upper lip vermilion, Open mouth, Tapered finger	OMIM:260565
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Short nose, Short stature, Downturned corners of mouth, Cleft palate, Deep philtrum, Microretrogn...	OMIM:618571
Mandibulofacial Dysostosis, Guion-Almeida Type	Short nose, Proximal placement of thumb, Esophageal atresia, Anteverted nares, Choanal atresia, S...	OMIM:610536
Geleophysic Dysplasia 2	Short nose, Respiratory insufficiency, Limitation of joint mobility, Short foot, Short stature, S...	OMIM:614185
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Stroke, Hypertension, Splenic infarction, Leukocytosis, R...	OMIM:603903
Caffey Disease	Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones	OMIM:114000
Mandibuloacral Dysplasia With Type B Lipodystrophy	Delayed puberty, Short nose, Osteolytic defects of the distal phalanges of the hand, Narrow mouth...	ORPHA:90154
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Long nose, Short nose, Slender long bone, High palate, Downturned corners of mouth, W...	OMIM:618590
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Death in infancy, ...	OMIM:210710
Developmental Malformations-Deafness-Dystonia Syndrome	Orofacial cleft, Death in early adulthood, Femoral retroversion, Micromelia, Short stature, Hypop...	ORPHA:79107
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio...	OMIM:619313
Moebius Syndrome	Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, High palate, ...	ORPHA:570
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hydroxyprolinemia, Hyperuricemia, Increased bone mineral density, Osteoporosis, Ankyl...	OMIM:239000
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Widely spaced teeth, Triangular mouth, Metopic synostosis, Anteverted nares, Elbow flexion contra...	OMIM:300868
Macrocephaly-Intellectual Disability-Autism Syndrome	Short nose, Lymphoid nodular hyperplasia, Intestinal polyposis, Foot polydactyly, Preaxial hand p...	ORPHA:210548
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Short stature, Pulmonary hypoplasia, Bilateral talipes equinovarus	OMIM:618174
Meier-Gorlin Syndrome 7	Dislocated radial head, Clubbing, Joint hypermobility, Craniosynostosis, Choanal atresia, Short s...	OMIM:617063
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly	OMIM:228250
Hereditary Motor And Sensory Neuropathy, Type Iic	Hammertoe, Short stature, Respiratory failure, Intercostal muscle weakness, Down-sloping shoulders	OMIM:606071
Au-Kline Syndrome	Retrognathia, Bifid nasal tip, Lipomyelomeningocele, Bifid uvula, Craniosynostosis, Overlapping t...	OMIM:616580
Autosomal Recessive Faciodigitogenital Syndrome	Short nose, Long philtrum, Clinodactyly of the 5th finger, Finger syndactyly, Anteverted nares, O...	ORPHA:1974
Angioosteohypotrophic Syndrome	Edema, Telangiectasia of the skin, Venous malformation, Prominent superficial veins	ORPHA:75508
Xylt1-Cdg	Long philtrum, Joint dislocation, Flared metaphysis, Short clavicles, Short long bone, Broad thum...	ORPHA:370930
Weiss-Kruszka Syndrome	Short nose, Clinodactyly of the 5th finger, Proximal placement of thumb, Anteverted nares, Exagge...	OMIM:618619
Mesomelia-Synostoses Syndrome	Short umbilical cord, Carpometacarpal synostosis, Short metatarsal, Mesomelic short stature, Meta...	OMIM:600383
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Dilatat...	OMIM:187300
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Postnatal growth retardation, Short first metatarsal, Ulnar bowing, Epiph...	OMIM:619135
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic seizures, Calvarial osteosclerosis, Abnormal circulating follicle-stimulating hormon...	ORPHA:93325
Mirizzi Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholelithiasis, ...	ORPHA:521219
Distal Deletion 15Q	Short distal phalanx of finger, Intrauterine growth retardation, Hip dislocation, Short finger, 2...	ORPHA:1596
Microphthalmia, Syndromic 9	Bilateral lung agenesis, Respiratory insufficiency, Pulmonary artery atresia, Short stature, Micr...	OMIM:601186
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Dislocated radial head, Malrotation of colon, Intrauterine growth re...	OMIM:122470
Cerebrooculonasal Syndrome	Postnatal growth retardation, Short nose, Narrow palate, Solitary median maxillary central inciso...	OMIM:605627
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Sc...	ORPHA:562639
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Elevated circulati...	OMIM:619525
Trisomy 10P	Abnormality of the nose, Retrognathia, Short nose, Orofacial cleft, Ulnar deviated club hands, Th...	ORPHA:171929
Mandibuloacral Dysplasia	Postnatal growth retardation, Abnormal tongue morphology, Short clavicles, Delayed cranial suture...	ORPHA:2457
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Carpal bone hypoplasia, Genu valgum, Disproportionate short-limb short stature, Metaphyseal cuppi...	OMIM:250420
Orofaciodigital Syndrome Vi	Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,...	OMIM:277170
Mccune-Albright Syndrome	Increased serum testosterone level, Abnormal endocrine physiology, Precocious puberty, Hypophosph...	ORPHA:562
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia, Hypothyroidism, Hypoparathyroidism	ORPHA:1563
Treacher-Collins Syndrome	Retrognathia, Glossoptosis, Tracheoesophageal fistula, Tooth agenesis, Wide mouth, Multiple encho...	ORPHA:861
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Short long bone, Vertebral fusion, Talipes equinovarus, Death in infancy	OMIM:618845
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure	ORPHA:70472
Diamond-Blackfan Anemia 8	Short nose, Growth delay, Short stature, Thick upper lip vermilion, Wide nasal bridge	OMIM:612563
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentration, Hypocalcemi...	OMIM:618183
Micro Syndrome	Delayed puberty, Short nose, Short philtrum, Anteverted nares, High palate, Short stature, Joint ...	ORPHA:2510
Auriculocondylar Syndrome 1	Anterior open-bite malocclusion, Mandibular condyle hypoplasia, Dental crowding, Glossoptosis, Na...	OMIM:602483
Absent Eyebrows And Eyelashes With Mental Retardation	Convex nasal ridge, Short nose, Encephalocele	OMIM:200130
Multiple Mitochondrial Dysfunctions Syndrome 1	Respiratory insufficiency, Respiratory failure, Neonatal death, Death in infancy	OMIM:605711
Bloom Syndrome	Esophageal neoplasm, Retrognathia, Cheilitis, Stomach cancer, Severe postnatal growth retardation...	ORPHA:125
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Macrovesicular hepatic steatosis, Coronary artery atherosclerosis, Acute hepatic steatosis, Chole...	ORPHA:209902
Isolated Right Ventricular Hypoplasia	Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec...	ORPHA:439
Meckel Syndrome, Type 9	Occipital encephalocele, Limb undergrowth, Talipes equinovarus	OMIM:614209
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Short finger, Postnatal growth retardation, Rhizomelia, Flared meta...	OMIM:608940
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory insufficiency, Respiratory failure, Death in infancy	OMIM:614299
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Postnatal growth retardation, Irregular epiphyses, Hypoplastic iliac wing, Coxa vara, Hypoplasia ...	OMIM:313400
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, Short ...	OMIM:271640
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Death in childhood, Atelectasis, Respiratory insufficiency, Pulmonary fibrosis, Respiratory failu...	OMIM:618278
9Q21.13 Microdeletion Syndrome	Polydactyly, Postnatal growth retardation, Abnormal tongue morphology, Downturned corners of mout...	ORPHA:531151
Pseudohypoparathyroidism Type 1A	Calcinosis, Hypocalcemic seizures, Reduced bone mineral density, Decreased response to growth hor...	ORPHA:79443
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Dental crowding, Elbow flexion contracture, High palate, Aspiration pn...	ORPHA:2020
Musculocontractural Ehlers-Danlos Syndrome	Pneumothorax, Short nose, Recurrent joint dislocation, High palate, Narrow mouth, Slender finger,...	ORPHA:2953
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Short nose, Bulbous nose, Wide nasal bridge, Mild short stature, Thin upper lip vermilion	OMIM:620292
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Ischemic stroke, Spinal arteriovenous malformation, High-output congestive...	OMIM:610655
Atrial Septal Defect, Ostium Secundum Type	Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric...	ORPHA:99103
Adult Acute Respiratory Distress Syndrome	Pneumonia, Respiratory failure, Pulmonary infiltrates, Pulmonary edema	ORPHA:70578
Osteopetrosis, Autosomal Recessive 1	Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Hypocalcemia, Increased bone mineral den...	OMIM:259700
Lathosterolosis	Short nose, Long philtrum, Meningocele, Anteverted nares, Gingival overgrowth, Postaxial hand pol...	ORPHA:46059
Rhombencephalosynapsis	Polydactyly, Short nose, Aganglionic megacolon, Esophageal atresia, Finger syndactyly, Anteverted...	ORPHA:59315
Frontofacionasal Dysplasia	Short nose, Encephalocele, Dimple on nasal tip, Non-midline cleft of the upper lip, Bifid nasal t...	ORPHA:1791
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Occipital Horn Syndrome	Large iliac wing, Absent tibia, Aplasia/hypoplasia of the humerus, Joint hypermobility, Long phil...	ORPHA:198
Coffin-Siris Syndrome	Postnatal growth retardation, Short nose, Thick lower lip vermilion, Wide nasal base, Joint hyper...	ORPHA:1465
Helsmoortel-Van Der Aa Syndrome	Sandal gap, Prominent fingertip pads, Everted lower lip vermilion, Microdontia, Short lower limbs...	OMIM:615873
Atrial Septal Defect, Coronary Sinus Type	Presyncope, Increased pulmonary vascular resistance, Stroke, Supraventricular arrhythmia, Transie...	ORPHA:99104
Ring Chromosome 7 Syndrome	Severe intrauterine growth retardation, Bifid uvula, Short 5th finger, Short philtrum, Anteverted...	ORPHA:1449
Spinal Muscular Atrophy With Congenital Bone Fractures 1	High palate, Narrow mouth, Multiple prenatal fractures, Pulmonary hypoplasia, Flexion contracture...	OMIM:616866
Bartsocas-Papas Syndrome 1	Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Absent thumb, Syndactyly, Absent radius, ...	OMIM:263650
Deeah Syndrome	Narrow palate, Retrognathia, Short nose, Death in childhood, Long philtrum, Short philtrum, Promi...	OMIM:619004
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Rickets, Osteopenia, Hypophosphatemia, Diabetes mellitus	ORPHA:2088
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Mandibular prognathia, Micromelia	ORPHA:2252
Jacobsen Syndrome	Death in infancy, Intestinal malrotation, Abnormality of the anus, Intrauterine growth retardatio...	ORPHA:2308
Lmna-Related Cardiocutaneous Progeria Syndrome	Congestive heart failure, Basal cell carcinoma, Coronary artery atherosclerosis, Aortic root aneu...	ORPHA:363618
Kleefstra Syndrome	Short nose, Advanced eruption of teeth, Delayed eruption of teeth, Tracheomalacia, Anteverted nar...	ORPHA:261494
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Congestive heart failure, Vascular dilatation, Aortic aneurysm, Retinal detachment, Microcornea, ...	ORPHA:1900
Microform Holoprosencephaly	Short nose, Orofacial cleft, Solitary median maxillary central incisor, Short philtrum, Narrow na...	ORPHA:280200
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Long fibula	ORPHA:935
Acrodysostosis 1 With Or Without Hormone Resistance	Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ...	OMIM:101800
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Respiratory failure, Ankle clonus	OMIM:613954
Orofaciodigital Syndrome Type 1	Reduced bone mineral density, Broad alveolar ridges, Accessory oral frenulum, Tongue nodules, Con...	ORPHA:2750
Tetrasomy 18P	Thin vermilion border, Short nose, Narrow mouth, Large hands, Long philtrum	ORPHA:3307
Spondyloepimetaphyseal Dysplasia, Krakow Type	Clinodactyly of the 5th finger, Rhizomelia, Delayed pubic bone ossification, Irregular epiphyses,...	OMIM:618162
Gm1 Gangliosidosis Type 1	Long philtrum, Broad long bone diaphyses, Gingival overgrowth, Short long bone, Broad metacarpals...	ORPHA:79255
Donnai-Barrow Syndrome	Short nose, Wide anterior fontanel, Intestinal malrotation, Short sternum, Broad nasal tip, Malar...	OMIM:222448
Costello Syndrome	Pneumothorax, Limited elbow movement, Thick lower lip vermilion, Tracheomalacia, Respiratory insu...	OMIM:218040
Hallermann-Streiff Syndrome	Reduced bone mineral density, Short ribs, Glossoptosis, Choanal atresia, Abnormality of the denti...	ORPHA:2108
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency	ORPHA:745
Telangiectasia, Hereditary Hemorrhagic, Type 2	Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na...	OMIM:600376
Seckel Syndrome 2	Clinodactyly of the 5th finger, Microdontia, Short stature, Growth delay, Micrognathia, Microglos...	OMIM:606744
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Narrow palate, Elbow flexion contracture, Split...	OMIM:200980
Nijmegen Breakage Syndrome	Convex nasal ridge, Retrognathia, Anal stenosis, Non-midline cleft of the upper lip, Anal atresia...	ORPHA:647
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Microvesicular h...	OMIM:203700
Roberts Syndrome	Radial deviation of finger, Mesomelic arm shortening, Proximal placement of thumb, Sandal gap, Se...	ORPHA:3103
Hydrolethalus	Retrognathia, Gingival cleft, Anencephaly, Postaxial hand polydactyly, Micromelia, Micrognathia, ...	ORPHA:2189
Van Esch-O'Driscoll Syndrome	Retrognathia, Short nose, Clinodactyly of the 5th finger, Esophageal atresia, Spina bifida occult...	OMIM:301030
Tbck-Related Intellectual Disability Syndrome	Broad finger, High, narrow palate, 11 pairs of ribs, Respiratory insufficiency, Broad toe, 2-3 to...	ORPHA:488632
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
Adams-Oliver Syndrome 5	Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Portal vein thro...	OMIM:616028
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Tooth agenesis, Mesomelia, Wide mouth, Intrauterine growth retardati...	ORPHA:818
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Arteriovenous malformation, Hamartomatous ...	ORPHA:2929
Nephronophthisis 2	Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia	OMIM:602088
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Delayed puberty, Short nose, Mandibular prognathia, Micrognathia, Hip dysplasia	ORPHA:496790
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Retrognathia, Wide nasal base, Spina bifida occulta, Depressed nasal tip, Broad femor...	ORPHA:488434
Lethal Congenital Contracture Syndrome 2	Respiratory failure, Micrognathia, Arthrogryposis multiplex congenita	OMIM:607598
Mosaic Trisomy 16	Abnormality of the nose, Large placenta, Meckel diverticulum, Intrauterine growth retardation, Ab...	ORPHA:1708
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Short nose, Severe postnatal growth retardation, Anteverted nares, Delayed cranial suture closure...	OMIM:613038
Femoral-Facial Syndrome	Aplasia/hypoplasia of the femur, Limited elbow movement, Short humerus, Syndactyly, Absent verteb...	OMIM:134780
Intellectual Developmental Disorder, X-Linked 98	Postnatal growth retardation, Long nose, Short nose, Thin vermilion border, Clinodactyly of the 5...	OMIM:300912
Riddle Syndrome	Abnormal pulmonary interstitial morphology, Bronchitis, Neonatal asphyxia, Arthritis, Short statu...	ORPHA:420741
Hartnup Disorder	Short stature, Glossitis	OMIM:234500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Short nose, Long philtrum, Thin vermilion border, Anal stenosis, Abnormal ilium morphology, Antev...	OMIM:614080
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Proximal placement of thumb, Esophageal atresia, Tracheoesophageal fistula, Anal atresia, Hand po...	OMIM:314390
Distal Triplication 15Q	Retrognathia, High palate, Camptodactyly, Arachnodactyly, Micrognathia, Pulmonary hypoplasia, Fle...	ORPHA:314588
Caudal Regression Syndrome	Aplasia/Hypoplasia of the sacrum, Orofacial cleft, Abnormal iliac wing morphology, Abnormal pelvi...	ORPHA:3027
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short nose, Short stature, Malar flattening, Hypoplasia of the zygomatic bone, Depressed nasal br...	ORPHA:2835
Ogden Syndrome	Everted upper lip vermilion, Sandal gap, Bifid nasal tip, Umbilical hernia, Intrauterine growth r...	OMIM:300855
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, 2-3 toe syndactyly, Short ribs, Missing ribs, Micromelia, Pos...	OMIM:617866
Warburg Micro Syndrome 3	Postnatal growth retardation, Short nose, Narrow palate, Clinodactyly of the 5th finger, Microgna...	OMIM:614222
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Spider hemangioma, Adenocarcinoma of the...	ORPHA:171
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Short nose, Advanced eruption of teeth, Widely spaced teeth, Talipes equinovarus, Everted lower l...	OMIM:617865
Fanconi-Bickel Syndrome	Rickets, Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubinemia, ...	OMIM:227810
Rothmund-Thomson Syndrome, Type 2	Supernumerary tooth, Short nose, Delayed eruption of teeth, Mandibular prognathia, High palate, O...	OMIM:268400
Hemifacial Atrophy, Progressive	Short mandibular rami, Dental malocclusion, Tongue atrophy, Delayed eruption of teeth	OMIM:141300
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Meningocele, Hydranencephaly, Tracheomalacia, Short hard palate, ...	ORPHA:1393
Timothy Syndrome	Hypocalcemia, Hypothyroidism	OMIM:601005
19P13.13 Microdeletion Syndrome	Short nose, Sandal gap, Anteverted nares, High palate, Narrow mouth, Long fingers, Malar flatteni...	ORPHA:357001
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Arachnodactyly, Bifid uvula, Absent thumb, Joint hypermobility, Intrauterine growth retardation, ...	ORPHA:500150
16P13.11 Microdeletion Syndrome	Short nose, Anteverted nares, Exaggerated cupid's bow, Short stature, Camptodactyly of finger, Cl...	ORPHA:261236
Renal Tubular Dysgenesis	Joint hypermobility, Pulmonary hypoplasia	ORPHA:3033
Igg4-Related Thyroid Disease	Euthyroid goiter, Hypocalcemia, Thyroiditis, Thyrotoxicosis with diffuse goiter, Abnormal pituita...	ORPHA:64744
Combined Oxidative Phosphorylation Deficiency 55	Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyp...	OMIM:619743
Gapo Syndrome	Short nose, Long philtrum, Thick lower lip vermilion, High, narrow palate, Wide anterior fontanel...	OMIM:230740
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory failure, Wide anterior fontanel, Cardiorespiratory arrest, Depressed nasal bridge	ORPHA:26791
Orofaciodigital Syndrome Type 5	Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ...	ORPHA:2919
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypocalcemia, Hypomagnesemia, Hypokalemia	OMIM:175500
Developmental Delay With Or Without Dysmorphic Facies And Autism	Short nose, 2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Short philtrum, Antever...	OMIM:618454
Fryns Syndrome	Long philtrum, Aganglionic megacolon, Clinodactyly of the 5th finger, Anteverted nares, Non-midli...	ORPHA:2059
Trisomy 8P	Clinodactyly of the 5th toe, Retrognathia, Clinodactyly of the 2nd finger, Bifid uvula, Malrotati...	ORPHA:264450
Absence Of The Pulmonary Artery	Abnormal inferior vena cava morphology, Abnormal heart morphology, Cardiomegaly, Abnormal cardiac...	ORPHA:980
Cebalid Syndrome	Short nose, Anteverted nares, High palate, Depressed nasal ridge, Depressed nasal bridge	OMIM:618774
Schinzel-Giedion Syndrome	Retrognathia, Stiff elbow, Broad alveolar ridges, Tibial bowing, Wide mouth, Umbilical hernia, Sh...	ORPHA:798
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Retrognathia, Short nose, Meckel diverticulum, Thick nasal alae, Micrognathia	ORPHA:163961
Waardenburg Syndrome Type 1	Short nose, Aganglionic megacolon, Meningocele, Mandibular prognathia, Spina bifida, Cleft upper ...	ORPHA:894
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Respiratory failure, Interstitial pneumonitis, Recurrent upper respiratory tract infections	OMIM:620296
C Syndrome	Dislocated radial head, Death in infancy, Abnormality of the anus, Long philtrum, Accessory oral ...	ORPHA:1308
Plaa-Associated Neurodevelopmental Disorder	Rocker bottom foot, Short nose, Respiratory insufficiency, Hyperextensibility of the finger joint...	ORPHA:521426
Prolidase Deficiency	Short nose, High palate, Micrognathia, Recurrent pneumonia, Depressed nasal bridge, Concave nasal...	OMIM:170100
Relapsing Polychondritis	Atelectasis, Recurrent aphthous stomatitis, Arthritis, Limitation of joint mobility, Chondritis, ...	ORPHA:728
Kaufman Oculocerebrofacial Syndrome	Short nose, Clinodactyly of the 5th finger, Anteverted nares, High palate, Narrow mouth, Congenit...	OMIM:244450
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory failure requiring assisted ventilation, Difficulty in tongue movements, Respiratory i...	ORPHA:308552
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Glossoptosis, Everted lower lip vermilion, Hypoplasia of the maxilla, Micrognath...	OMIM:616367
Mosaic Trisomy 9	Rocker bottom foot, Abnormal lung lobation, Elbow dislocation, Limitation of joint mobility, High...	ORPHA:99776
Chromosome 16P13.3 Duplication Syndrome	Rocker bottom foot, Proximal placement of thumb, Sandal gap, Tracheobronchomalacia, Microdontia, ...	OMIM:613458
Wiedemann-Steiner Syndrome	Postnatal growth retardation, Short nose, Long philtrum, Rhizomelia, Clinodactyly of the 5th fing...	ORPHA:319182
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Palpitations, Biliary trac...	ORPHA:100085
Ellis-Van Creveld Syndrome	Neonatal short-limb short stature, Genu valgum, Talipes equinovarus, Delayed eruption of teeth, D...	OMIM:225500
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Arachnodactyly, Micrognathia, Delayed cranial suture closure, Short nose	ORPHA:1129
Niemann-Pick Disease, Type C2	Death in childhood, Respiratory insufficiency, Death in infancy, Pulmonary fibrosis, Respiratory ...	OMIM:607625
Orofaciodigital Syndrome Iii	Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Microdontia, Short sternum, Bifi...	OMIM:258850
Ayme-Gripp Syndrome	Short nose, Long philtrum, Mandibular prognathia, Delayed cranial suture closure, Narrow mouth, A...	OMIM:601088
Chromosome 14Q11-Q22 Deletion Syndrome	Short nose, Hip subluxation, High palate, Narrow mouth, Proportionate short stature, Growth delay...	OMIM:613457
Schinzel-Giedion Midface Retraction Syndrome	Tibial bowing, Abnormal nasopharynx morphology, Short distal phalanx of finger, Increased density...	OMIM:269150
Spondyloenchondrodysplasia	Pneumonia, Juvenile rheumatoid arthritis, Delayed eruption of teeth, Arthritis, Hypoplastic ilia,...	ORPHA:1855
X-Linked Agammaglobulinemia	Hypocalcemia, Arthritis, Osteomyelitis	ORPHA:47
Ulnar Hypoplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis...	OMIM:191440
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Coronal craniosynostosis, Micrognathia, Choanal stenosis, Malar flatte...	OMIM:241310
Mosaic Variegated Aneuploidy Syndrome 1	Postnatal growth retardation, Short nose, Long philtrum, Wide nose, Triangular mouth, Anteverted ...	OMIM:257300
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Biliary atresia, Pancreatic aplasia, Pulmonic stenosis, Umbilical hernia, Oligohydramnios, Hypopl...	ORPHA:2255
Leigh Syndrome	Respiratory insufficiency, Respiratory failure	OMIM:256000
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory failure, Respiratory insufficiency due to muscle weakness	ORPHA:352447
Tetraamelia Syndrome 2	Bilateral lung agenesis, Hypoplastic pulmonary veins, Amelia, Glossoptosis, Ankyloglossia, Microg...	OMIM:618021
Cornelia De Lange Syndrome 6	Short nose, Long philtrum, Clinodactyly of the 5th finger, Anteverted nares, Pulmonary artery atr...	OMIM:620568
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Death in childhood	OMIM:615838
Postsynaptic Congenital Myasthenic Syndromes	Respiratory failure, High palate	ORPHA:98913
Autosomal Dominant Hypocalcemia	Hypocalcemia, Hyperphosphatemia, Reduced bone mineral density, Hypomagnesemia	ORPHA:428
Trisomy 18	Narrow palate, Short nose, Abnormal hip bone morphology, Anencephaly, Esophageal atresia, Non-mid...	ORPHA:3380
Snakebite Envenomation	Respiratory failure, Epistaxis, Gingival bleeding	ORPHA:449285
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Jaundice, Hypoparathyroidism, Hepatomegaly, Cholelithiasis, ...	ORPHA:231222
Zttk Syndrome	Bifid uvula, Joint hypermobility, Intrauterine growth retardation, Craniosynostosis, Short philtr...	OMIM:617140
Saethre-Chotzen Syndrome	Long nose, Partial duplication of the distal phalanx of the 2nd finger, Partial duplication of th...	OMIM:101400
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Hypophosphatemia	OMIM:605911
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Recurrent sinusitis, Joint hypermobility, Craniosynostosis, Overlapping toe, Anteverted nares, Po...	OMIM:213980
Myasthenic Syndrome, Congenital, 10	Respiratory insufficiency due to muscle weakness, Tongue atrophy	OMIM:254300
Von Willebrand Disease	Gastrointestinal hemorrhage, Muscle hemorrhage, Venous insufficiency, Gastrointestinal angiodyspl...	ORPHA:903
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concent...	ORPHA:65682
Severe Neurodegenerative Syndrome With Lipodystrophy	Respiratory failure	ORPHA:363400
Lenz-Majewski Hyperostotic Dwarfism	Syndactyly, Intrauterine growth retardation, Joint hypermobility, Elbow flexion contracture, Choa...	OMIM:151050
Lathosterolosis	2-4 toe cutaneous syndactyly, 2-3 toe cutaneous syndactyly, Short nose, Talipes equinovarus, Ante...	OMIM:607330
Pelviscapular Dysplasia	Elbow flexion contracture, Abnormality of the joint spaces of the elbow, Hypoplastic ilia, Congen...	ORPHA:93333
Carey-Fineman-Ziter Syndrome 1	Retrognathia, Respiratory insufficiency, Anteverted nares, Glossoptosis, High palate, Growth dela...	OMIM:254940
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Short nose, Respiratory insufficiency, High palate, Postaxial polydactyly, Lo...	OMIM:617527
Orofaciodigital Syndrome Type 6	Preaxial polydactyly, Midline notch of upper alveolar ridge, Mesoaxial polydactyly, Tongue nodule...	ORPHA:2754
Muscular Dystrophy, Duchenne Type	Hamstring contractures, Achilles tendon contracture, Respiratory insufficiency due to muscle weak...	OMIM:310200
Juvenile Nephropathic Cystinosis	Hypokalemia, Hypocalcemia, Hypouricemia, Hypothyroidism, Hyponatremia, Hypophosphatemia, Hypocalc...	ORPHA:411634
Developmental And Epileptic Encephalopathy 75	Short nose, Short philtrum, Anteverted nares, Open mouth, Wide nasal bridge	OMIM:618437
Lipoid Proteinosis	Thick lower lip vermilion, High palate, Nasal polyposis, Abnormality of the gingiva, Abnormal ora...	ORPHA:530
Pyknoachondrogenesis	Short iliac bones, Craniofacial hyperostosis, Abnormality of mouth shape, Abnormal iliac wing mor...	ORPHA:3003
Lujo Hemorrhagic Fever	Rhinitis, Stiff neck, Atelectasis	ORPHA:319213
Short Stature, Microcephaly, And Endocrine Dysfunction	Long nose, Disproportionate short-limb short stature, Tooth malposition, Short stature, Limb unde...	OMIM:616541
Digeorge Syndrome	High, narrow palate, Atelectasis, Intervertebral disk degeneration, Short philtrum, High palate, ...	OMIM:188400
Coffin-Lowry Syndrome	Short metacarpal, Everted lower lip vermilion, Thick nasal septum, Delayed closure of the anterio...	OMIM:303600
Myotonic Dystrophy 1	Atrial flutter, Polyhydramnios, Cholelithiasis, Atrial fibrillation, Cataract, First degree atrio...	OMIM:160900
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Left atrial enlargement, Hepatomegaly, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, R...	OMIM:619424
Generalized Pustular Psoriasis	Elevated circulating C-reactive protein concentration, Hypocalcemia, Arthritis, Hyponatremia, Hyp...	ORPHA:247353
Histiocytosis-Lymphadenopathy Plus Syndrome	Corneal arcus, Atrial septal defect, Decreased response to growth hormone stimulation test, Hepat...	OMIM:602782
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal bone ossification, Reduced bone mineral density, Hypoplastic iliac wing, Tibial bowing, ...	ORPHA:93315
Erythrocytosis, Familial, 2	Increased red blood cell mass, Stroke, Hypotension, Pulmonary arterial hypertension, Hemangioma, ...	OMIM:263400
Pontocerebellar Hypoplasia, Type 10	Short nose, Widely spaced teeth, Low hanging columella, Tapered finger, High palate, Growth delay...	OMIM:615803
Sarcoidosis, Susceptibility To, 2	Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Clubbing, Pleural effusion, ...	OMIM:612387
Acrocephalopolydactylous Dysplasia	Short nose, Extrapulmonary lobar sequestration, Hypoplasia of the small intestine, Postaxial hand...	OMIM:200995
Menke-Hennekam Syndrome 1	Everted upper lip vermilion, Sandal gap, Umbilical hernia, Long philtrum, Joint hypermobility, Ov...	OMIM:618332
Cardiofaciocutaneous Syndrome 1	Osteopenia, Short nose, Clinodactyly of the 5th finger, Cubitus valgus, Hyperextensibility of the...	OMIM:115150
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ...	ORPHA:69663
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Everted lower lip vermilion, Contracture of the proximal interphalangeal joint of t...	ORPHA:464738
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Short nose, Clinodactyly, Syndactyly, Mandibular prognathia	OMIM:618087
Multiple Acyl-Coa Dehydrogenase Deficiency	Wide anterior fontanel, Neonatal death, Pulmonary hypoplasia, Depressed nasal bridge	OMIM:231680
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Disproportionate short-limb short stature, Short ribs, Long philtrum, Postaxial hand polydactyly,...	ORPHA:93271
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Pinguecula, Anemia, Cholelithiasis, Pancytopenia, Biliary tract obstruct...	ORPHA:77259
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly...	ORPHA:848
Neurofibroma	Abnormal biliary tract morphology, Spinal meningioma, Peripheral schwannoma, Spinal neurofibroma,...	ORPHA:252183
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Broad alveolar ridges, Dental crowding, Death in infancy, Intestinal...	OMIM:270400
Cardiomyopathy, Dilated, 2D	Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov...	OMIM:619371
Orofaciodigital Syndrome I	Radial deviation of finger, Myelomeningocele, Syndactyly, Tongue nodules, Clinodactyly, Alveolar ...	OMIM:311200
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Retrognathia, Short nose, Long philtrum, Cubitus valgus, Short metatarsal, Thin vermilion border,...	OMIM:617157
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Annular pancreas, Pulmonary valve atresia, Atrioventricular canal defect, ...	ORPHA:210122
Clapo Syndrome	Venous malformation, Capillary hemangioma, Lymphedema, Lymphangioma, Ganglioneuroma, Varicose veins	ORPHA:168984
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Short nose, Wide anterior fontanel, High palate, Congenital hip dislocation, Contracture of the p...	ORPHA:457279
X-Linked Intellectual Disability, Cantagrel Type	Short nose, Tented upper lip vermilion, Short philtrum	ORPHA:85277
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Preaxial polydactyly, Anencephaly, Short ribs, Micromelia, Postaxial polydactyly, Occipital menin...	OMIM:616546
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Widely spaced teeth, Disproportionate short-limb short stature, Bowed humerus, Short lingual fren...	OMIM:619479
Enlarged Parietal Foramina	Occipital encephalocele, Venous malformation, Myelomeningocele, Multiple exostoses, Abnormal cere...	ORPHA:60015
Endocrine-Cerebroosteodysplasia	Preaxial polydactyly, Fibular bowing, Sandal gap, Hitchhiker thumb, Tibial bowing, Median cleft p...	OMIM:612651
Holoprosencephaly 9	Solitary median maxillary central incisor, Bilateral cleft palate, Hypoplasia of the premaxilla, ...	OMIM:610829
Fryns Syndrome	Rocker bottom foot, Proximal placement of thumb, Meckel diverticulum, Prominent fingertip pads, I...	OMIM:229850
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Short nose, Aganglionic megacolon, Anal stenosis, Short stature, Shortening of all distal phalang...	OMIM:614207
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Arachnodactyly, Emphysema, Hip dislocation	OMIM:614100
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Intrauterine growth retardation, Respiratory failure, Limb joint contracture	OMIM:620327
Chops Syndrome	Short nose, High, narrow palate, Cervical C2/C3 vertebral fusion, Tracheomalacia, Anteverted nare...	OMIM:616368
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Rocker bottom foot, Short nose, Narrow mouth, Camptodactyly, Growth delay, Cleft palate, Malar fl...	OMIM:601353
Alagille Syndrome 1	Elevated circulating hepatic transaminase concentration, Cholestasis, Prolonged neonatal jaundice...	OMIM:118450
Ciliary Dyskinesia, Primary, 20	Respiratory insufficiency due to defective ciliary clearance, Atelectasis, Pulmonary artery steno...	OMIM:615067
Congenital Disorder Of Glycosylation, Type Il	Short nose, Villous atrophy, Wide mouth, Long philtrum, Depressed nasal bridge, Hip dislocation	OMIM:608776
Neuroleptic Malignant Syndrome	Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hy...	ORPHA:94093
Deafness-Lymphedema-Leukemia Syndrome	Respiratory failure, Recurrent respiratory infections	ORPHA:3226
Pontocerebellar Hypoplasia, Type 2E	Short nose, Wide nose, Osteoporosis, Short stature, Micrognathia, Flexion contracture	OMIM:615851
Autosomal Erythropoietic Protoporphyria	Decreased liver function, Cirrhosis, Cholelithiasis, Edema, Microcytic anemia	ORPHA:79278
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Polyhydramnios, Peritoneal abscess, Ventricular septal defect, Hypop...	ORPHA:436252
Orofaciodigital Syndrome V	Aganglionic megacolon, Sandal gap, Postaxial hand polydactyly, High palate, Ankyloglossia, Postax...	OMIM:174300
Lymphangioleiomyomatosis	Pneumothorax, Atelectasis, Emphysema, Recurrent respiratory infections, Chylothorax, Pulmonary ly...	ORPHA:538
Spondylometaphyseal Dysplasia, Algerian Type	Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysis, Genu valgum, ...	OMIM:184253
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Short stature, Respiratory failure, Death in childhood	OMIM:619847
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Branchial anomaly, Oligodontia, Pleural effusion, Furrowed tongue, High palate, Promi...	ORPHA:453499
Brain-Lung-Thyroid Syndrome	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Short stature, Grow...	ORPHA:209905
Fraser Syndrome	Dental crowding, Myelomeningocele, Death in infancy, Umbilical hernia, Encephalocele, Cleft ala n...	ORPHA:2052
Vacterl With Hydrocephalus	Hypoplasia of the radius, Retrognathia, Esophageal atresia, Tracheoesophageal fistula, Spina bifi...	ORPHA:3412
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Abnormal fibula morphology, Retrognathia, Short nose, Sandal gap, Abnormal dental enamel morpholo...	ORPHA:1812
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short ribs, Postaxial...	OMIM:263520
Dermotrichic Syndrome	Short nose, Aganglionic megacolon, Depressed nasal bridge, Proportionate short stature	ORPHA:99688
Hyperparathyroidism, Transient Neonatal	Osteopenia, Subperiosteal bone formation, Anteverted nares, Recurrent fractures, Femoral bowing, ...	OMIM:618188
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short nose, Epiphyseal stippling, Joint hemorrhage, Epistaxis, Short distal phalanx of finger	OMIM:277450
Fanconi Renotubular Syndrome 3	Growth delay, Rickets, Bowing of the legs, Short stature	OMIM:615605
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Rocker bottom foot, Clinodactyly of the 5th finger, Knee flexion contracture, Joint hypermobility...	ORPHA:488642
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Respiratory failure, Achilles tendon contracture	OMIM:603689
Gracile Bone Dysplasia	Hypocalcemia, Decreased skull ossification	OMIM:602361
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Short nose, Absent cupid's bow, Choanal atresia, Celiac disease, Bulbous nose, Depressed nasal br...	ORPHA:284169
Campomelia, Cumming Type	Abnormal intestine morphology, Bowing of the long bones, Abnormally ossified vertebrae, Death in ...	ORPHA:1318
Ctcf-Related Neurodevelopmental Disorder	Sandal gap, Joint contracture of the 5th finger, Prominent fingertip pads, Microdontia, Long phil...	ORPHA:363611
Thyrotoxic Periodic Paralysis	Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Transient hypophosphatemia, Thyrot...	ORPHA:79102
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Short nose, Cleft soft palate, Anteverted nares, Short stature, Micrognathia, Submucous cleft sof...	ORPHA:2282
Jacobsen Syndrome	U-Shaped upper lip vermilion, Short nose, Clinodactyly of the 5th finger, Anteverted nares, Missi...	OMIM:147791
3Q29 Microdeletion Syndrome	Short nose, Orofacial cleft, Clinodactyly of the 5th finger, Short philtrum, Dental crowding, Hig...	ORPHA:65286
Adenylosuccinase Deficiency	Short nose, Anteverted nares, Prominent metopic ridge, Growth delay, Wide mouth, Smooth philtrum,...	OMIM:103050
Intellectual Developmental Disorder, Autosomal Dominant 73	Retrognathia, Long nose, Everted lower lip vermilion, Prominent interphalangeal joints, Broad phi...	OMIM:620450
Lymphedema-Distichiasis Syndrome	Fibrosarcoma, Corneal erosion, Predominantly lower limb lymphedema, Conjunctivitis, Arrhythmia, P...	ORPHA:33001
Pyruvate Kinase Deficiency Of Red Cells	Jaundice, Hepatomegaly, Chronic hemolytic anemia, Cholelithiasis, Reduced red cell pyruvate kinas...	OMIM:266200
Alg12-Cdg	Abnormal bone ossification, Proximal placement of thumb, Sandal gap, Short long bone, Intestinal ...	ORPHA:79324
Gcgr-Related Hyperglucagonemia	Glucagonoma, Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology	ORPHA:438274
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Respiratory failure, Cervical myelopathy, Myelopathy, Death in childhood	OMIM:617186
Infantile Nephropathic Cystinosis	Rickets, Abnormality of thyroid physiology, Hypokalemia, Hypophosphatemia, Abnormal blood ion con...	ORPHA:411629
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Rhizomelia, Flared metaphysis, Metaphyseal spurs, Short long bone, ...	ORPHA:85167
Cornelia De Lange Syndrome	Delayed puberty, Proximal placement of thumb, Oligodactyly, Joint stiffness, Intestinal malrotati...	ORPHA:199
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Rickets, Death in childhood, Death in adolescence, Osteoporosis	OMIM:560000
1Q21.1 Microdeletion Syndrome	Long philtrum, Clinodactyly of the 5th finger, Joint hypermobility, High palate, Ankyloglossia, B...	ORPHA:250989
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Wide mouth, Long philtrum, Craniosynostosis, Overlapping toe, Clinodactyly, Short philtrum, Oligo...	OMIM:309590
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity...	ORPHA:93322
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Granulomatous Disease, Chronic, X-Linked	Air bronchogram, Atelectasis, Rectal abscess, Pleural effusion, Recurrent pneumonia, Osteomyelitis	OMIM:306400
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Rectovaginal fistula, Bilateral talipes equinovarus, Inflammation of the large intestine, Microgn...	OMIM:619708
Primary Intestinal Lymphangiectasia	Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia	ORPHA:90362
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Peters Plus Syndrome	Disproportionate short-limb short stature, Wide mouth, Umbilical hernia, Intrauterine growth reta...	ORPHA:709
Dent Disease	Rickets, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement of the ankles, E...	ORPHA:1652
Lymphedema-Distichiasis Syndrome	Recurrent corneal erosions, Corneal ulceration, Predominantly lower limb lymphedema, Chylothorax,...	OMIM:153400
Microlissencephaly-Micromelia Syndrome	Short nose, 11 pairs of ribs, Micromelia, Long philtrum, Adducted thumb	ORPHA:50810
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormality of the endocrine system, Hypocalcemia, Thyroiditis, Decreased circulating prealbumin ...	ORPHA:37042
Choreoacanthocytosis	Arthritis, Temporomandibular joint crepitus, Protruding tongue	ORPHA:2388
Celiac Disease, Susceptibility To, 1	Rickets, Delayed puberty, Hypocalcemia, Thyroiditis, Osteoporosis, Type I diabetes mellitus	OMIM:212750
Witteveen-Kolk Syndrome	Radial deviation of finger, Proximal placement of thumb, Arachnodactyly, Intrauterine growth reta...	OMIM:613406
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Osteopetrosis, Diaphyseal sclerosis, Hypocalcemia, Increased skull ossification, Craniofacial ost...	OMIM:618476
3-Methylglutaconic Aciduria Type 7	Pneumothorax, Respiratory failure, Growth delay	ORPHA:445038
Cerebrocostomandibular Syndrome	Glossoptosis, Short humerus, Long philtrum, 10 pairs of ribs, Calcaneal epiphyseal stippling, Elb...	OMIM:117650
Frontorhiny	Encephalocele, Midline nasal groove, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Camp...	ORPHA:391474
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Postnatal growth retardation, Thin vermilion border, Sandal gap, Micromelia, Short stature, Broad...	OMIM:614800
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Intestinal malrotation, Arachnodactyly, Abnormal duodenum morphology, Umbilical hernia, Long phil...	OMIM:601776
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Short greater sciatic notch, Meckel diverticulum, Short ribs, Flare...	OMIM:312870
Yunis-Varon Syndrome	Rocker bottom foot, Broad secondary alveolar ridge, Absent sternal ossification, Abnormal finger ...	ORPHA:3472
Familial Adenomatous Polyposis	Lipoma, Congenital hypertrophy of retinal pigment epithelium, Odontoma, Pituitary adenoma, Neopla...	ORPHA:733
Spinocerebellar Ataxia Type 1	Respiratory failure	ORPHA:98755
Cadds	Intrauterine growth retardation, Short nose, Micrognathia	ORPHA:369942
Pallister-Hall Syndrome	Mesoaxial polydactyly, Oligodactyly, Broad thumb, Bifid uvula, Umbilical hernia, Intrauterine gro...	ORPHA:672
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Flexion contracture of toe, Recurrent aspiration pneumonia, Wide mouth, Rectovestibular fistula, ...	ORPHA:280633
Oculocerebral Hypopigmentation Syndrome, Cross Type	Abnormal thumb morphology, Short nose, Abnormal palate morphology, Anteverted nares, Limitation o...	ORPHA:2719
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Left ventricular systolic dysfunction, Polyhydramnios, Ventricular bigeminy, Patent foramen ovale...	OMIM:620519
Simpson-Golabi-Behmel Syndrome	Death in infancy, Broad thumb, Wide mouth, Umbilical hernia, Anteverted nares, Postaxial hand pol...	ORPHA:373
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Postnatal growth retardation, Short nose, High palate, Short stature, Micrognathia, Prominent nas...	OMIM:300749
Pterygium Colli, Isolated	Short nose	OMIM:177990
Bare Lymphocyte Syndrome, Type I	Emphysema, Recurrent bronchitis, Bronchiolitis, Nasal polyposis, Bronchiectasis, Chronic sinusitis	OMIM:604571
Joubert Syndrome 21	Occipital encephalocele, Single naris, Encephalocele, Short ribs, Pulmonary hypoplasia, Respirato...	OMIM:615636
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Short nose, Aganglionic megacolon, Short philtrum, Mandibular prognathia, Microretrognathia, Hypo...	OMIM:613603
Schisis Association	Anencephaly, Encephalocele, Anal atresia, Spina bifida, Micromelia, Tracheoesophageal fistula, Cl...	ORPHA:63862
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory failure, Respiratory insufficiency due to muscle weakness, High palate, Death in chil...	OMIM:220110
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure	OMIM:619483
Renal-Hepatic-Pancreatic Dysplasia 2	Abnormal lung lobation, Stillbirth, Femoral bowing, Pulmonary hypoplasia, Talipes equinovarus	OMIM:615415
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Calcification of the aorta, Anemia, Cholelithiasis, Pancytopenia, Bacterial endocarditis, Spontan...	ORPHA:2072
Distal Deletion 9P	Short nose, High, narrow palate, Abnormality of the dentition, Cleft palate, Brachydactyly, Wide ...	ORPHA:1642
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, Abnormality of primary teeth, Tooth agenesis, Bifid uvula, Joint h...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, Abnormality of primary teeth, Tooth agenesis, Bifid uvula, Joint h...	ORPHA:352665
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Eiken Syndrome	Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a...	OMIM:600002
Combined Oxidative Phosphorylation Deficiency 59	Congestive heart failure, Cholelithiasis, Hypertrophic cardiomyopathy, Cerebral edema, Severely r...	OMIM:620646
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing	OMIM:156232
Auriculocondylar Syndrome 3	Retrognathia, Micrognathia, Bifid uvula, Glossoptosis	OMIM:615706
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short stature, Short nose	ORPHA:289266
Holoprosencephaly 7	Short nose, Midline defect of the nose, Solitary median maxillary central incisor, Hypoplastic na...	OMIM:610828
Car T Cell Therapy-Associated Cytokine Release Syndrome	Respiratory failure, Pleural effusion, Pulmonary edema	ORPHA:542323
Aspartylglucosaminuria	Short nose, Abnormal cortical bone morphology, Arthritis, Mandibular prognathia, Gingival overgro...	ORPHA:93
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Pulmonic stenosis, Leukopenia, Splenomegaly, Lymphopenia, Neutropenia, Pulmonary arterial hyperte...	OMIM:612541
Cat Eye Syndrome	Tricuspid atresia, Biliary atresia, Total anomalous pulmonary venous return, Umbilical hernia, Pu...	OMIM:115470
Combined Oxidative Phosphorylation Deficiency 3	Death in childhood, Respiratory insufficiency, Death in infancy, Intrauterine growth retardation,...	OMIM:610505
Schneckenbecken Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Disproportionate ...	ORPHA:3144
Heart Defects, Congenital, And Other Congenital Anomalies	Perimembranous ventricular septal defect, Transposition of the great arteries, Double outlet left...	OMIM:600001
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemia, Hyperaldosteronism, Hypomagnesemia, Hypocalcemic tetany	ORPHA:73224
Cholera	Abnormal blood ion concentration, Hyponatremia, Hypokalemia, Hypocalcemia	ORPHA:173
Dend Syndrome	Short nose, Anteverted nares, Prominent metopic ridge, Downturned corners of mouth, Long philtrum...	ORPHA:79134
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Short nose, Fibular hypoplasia, Hip subluxation, Long philtrum, Cervical C2/C3 vertebral fusion, ...	ORPHA:444077
Protoporphyria, Erythropoietic, 1	Edema, Hemolytic anemia, Cholelithiasis, Hepatic failure	OMIM:177000
Sickle Cell Anemia	Ischemic stroke, Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Incr...	ORPHA:232
Double Outlet Right Ventricle	Hypocalcemia, Aplasia/Hypoplasia of the thymus, Hypoparathyroidism	ORPHA:3426
Hereditary Fructose Intolerance	Hypermagnesemia, Hypophosphatemia, Hyperuricemia	ORPHA:469
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Short philtrum, Anteverted nares, 2-3 toe syndactyly, High palate, Everted lower li...	OMIM:616449
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia...	ORPHA:26793
Aymé-Gripp Syndrome	Rocker bottom foot, Postnatal growth retardation, Short nose, Clinodactyly of the 5th finger, Del...	ORPHA:1272
Khan-Khan-Katsanis Syndrome	Short nose, Triangular mouth, Postaxial polydactyly, Short stature, Micrognathia, Joint contractu...	OMIM:618460
Brown-Vialetto-Van Laere Syndrome 1	Respiratory failure requiring assisted ventilation, Death in childhood, Respiratory insufficiency...	OMIM:211530
Tetrasomy 9P	Abnormal number of permanent teeth, Dental crowding, Aplasia/Hypoplasia of the clavicles, Bifid u...	ORPHA:3310
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory failure	OMIM:620166
Fraser Syndrome 2	Rectal atresia, Wide nose, Narrow mouth, Anal atresia, Intestinal malrotation, Respiratory failur...	OMIM:617666
Bannayan-Riley-Ruvalcaba Syndrome	Narrow palate, Short nose, Long philtrum, Intestinal polyposis, Wide nose, Anteverted nares, Abno...	ORPHA:109
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormality of the lymphatic system, Abnormal venous morphology, Telangiectasia of the skin, Abno...	ORPHA:276280
Jaberi-Elahi Syndrome	Short nose, Talipes equinovarus, Triangular mouth, Joint stiffness, Hand clenching, Joint hypermo...	OMIM:617988
8Q24.3 Microdeletion Syndrome	Rocker bottom foot, Intrauterine growth retardation, Short 5th finger, Long toe, Joint hypermobil...	ORPHA:508488
Dihydropyrimidine Dehydrogenase Deficiency	Respiratory failure requiring assisted ventilation, Retrognathia, Delayed eruption of teeth, Ante...	ORPHA:1675
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise	ORPHA:423
Livedoid Vasculopathy	Ischemic stroke, Abnormal capillary morphology, Anemia, Venous insufficiency, Pancytopenia, Hyper...	ORPHA:542643
Amyotrophic Lateral Sclerosis	Respiratory failure, Xerostomia, Tongue atrophy	ORPHA:803
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat...	ORPHA:3337
S-Adenosylhomocysteine Hydrolase Deficiency	Growth delay, Respiratory failure, Abnormality of the dentition	ORPHA:88618
Reactive Arthritis	Recurrent aphthous stomatitis, Respiratory insufficiency, Arthritis, Joint stiffness, Inflammatio...	ORPHA:29207
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Bilateral cleft palate, Bifid nasal tip, High palate, Ankyloglossia, Short stature, Enamel hypopl...	OMIM:618874
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating hepatic transaminase concentration, Cholelithiasis, Patent ductus arteriosus...	OMIM:614886
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure	OMIM:618233
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Venous malformation, Lipoma, Splenomegaly, Nephroblastoma, Spinal dysraphism	OMIM:612918
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Postnatal growth retardation, Retrognathia, Fused cervical vertebrae, Narrow mouth, Coronal crani...	ORPHA:83617
Hypomagnesemia 3, Renal	Rickets, Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Increased circula...	OMIM:248250
Burning Mouth Syndrome	Smooth tongue, Tongue pain, Abnormality of taste sensation, Parageusia, Strawberry tongue, Abnorm...	ORPHA:353253
Rhyns Syndrome	Osteopenia, Short long bone, Osteoporosis, Short stature, Radial bowing, Brachydactyly, Short fem...	OMIM:602152
Mucolipidosis Iii Alpha/Beta	Carpal bone hypoplasia, Mandibular prognathia, Short ribs, Split hand, Short long bone, Limitatio...	OMIM:252600
Rabson-Mendenhall Syndrome	Polydactyly, Advanced eruption of teeth, Wide nose, Severe postnatal growth retardation, Antevert...	ORPHA:769
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy	ORPHA:216873
Monosomy 9Q22.3	Polydactyly, Short nose, Long philtrum, Orofacial cleft, Delayed eruption of teeth, Odontogenic k...	ORPHA:77301
Deafness-Craniofacial Syndrome	Abnormal palate morphology, Short philtrum, Short lingual frenulum, Abnormality of the dentition,...	ORPHA:3241
Warburg Micro Syndrome 2	Postnatal growth retardation, Clinodactyly of the 5th toe, Short nose, Clinodactyly of the 4th to...	OMIM:614225
Moderate Hemophilia A	Arthropathy, Limitation of joint mobility, Gingival bleeding, Synovitis, Hip contracture, Joint h...	ORPHA:169805
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Bilateral lung agenesis, Pulmonary artery stenosis, Congenital pulmonary airway malformation, Cle...	OMIM:611812
Severe Generalized Junctional Epidermolysis Bullosa	Pneumothorax, Osteoporosis, Esophageal stricture, Growth delay, Enamel hypoplasia, Abnormal oral ...	ORPHA:79404
Restrictive Dermopathy	Osteopenia, Short umbilical cord, Large placenta, Small placenta, Temporomandibular joint ankylos...	ORPHA:1662
Chromosome 3Q29 Duplication Syndrome	Short nose, Bulbous nose, Wide nasal bridge	OMIM:611936
Trichothiodystrophy 1, Photosensitive	Retrognathia, Short nose, Intestinal obstruction, Triangular mouth, Death in infancy, Short statu...	OMIM:601675
Pentalogy Of Cantrell	Orofacial cleft, Abnormal tibia morphology, Anencephaly, Encephalocele, Non-midline cleft of the ...	ORPHA:1335
Triosephosphate Isomerase Deficiency	Respiratory insufficiency, Death in adolescence, Death in infancy, Respiratory insufficiency due ...	OMIM:615512
Cystinosis, Nephropathic	Rickets, Delayed puberty, Hypophosphatemic rickets, Male hypogonadism, Hypokalemia, Reduced blood...	OMIM:219800
White-Kernohan Syndrome	Retrognathia, Short nose, Rectovaginal fistula, Anteverted nares, Underdeveloped nasal alae, Wide...	OMIM:619426
Williams Syndrome	Abnormal circulating lipid concentration, Osteopenia, Increased bone mineral density, Elevated ci...	ORPHA:904
Orofaciodigital Syndrome Type 3	Postaxial hand polydactyly, Abnormality of the dentition, Irregular dentition, Short sternum, Bif...	ORPHA:2752
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypocalcemia, Hypoproteinemia, Thyroid lymphangiectasia	OMIM:235255
Bazex-Dupre-Christol Syndrome	Low hanging columella, Narrow nasal ridge, Furrowed tongue, Joint hypermobility, Underdeveloped n...	OMIM:301845
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Calcinosis, Hypokalemia, Hypocalcemia, Hyponatremia	OMIM:617913
Frontofacionasal Dysplasia	Short nose, Midline defect of the nose, Orofacial cleft, Hypoplasia of the frontal bone, Cleft up...	OMIM:229400
Cardiofaciocutaneous Syndrome	Short nose, Genu valgum, Cubitus valgus, Anteverted nares, High palate, Short stature, Submucous ...	ORPHA:1340
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Arthritis, Elevated circulating creatine kinase concentration, Septic arthritis, Hy...	ORPHA:36234
Fraser Syndrome 1	Dental crowding, Myelomeningocele, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the p...	OMIM:219000
Nestor-Guillermo Progeria Syndrome	Left atrial enlargement, Hypertension, Sinus tachycardia, Right bundle branch block, Pulmonary ar...	OMIM:614008
Monosomy 9P	Short nose, Proximal placement of thumb, Anteverted nares, Postaxial hand polydactyly, Choanal at...	ORPHA:261112
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Clinodactyly of the 5th finger, Bilateral cleft palate, Broad thumb, Intestinal malrotation, Micr...	ORPHA:2001
Homozygous Familial Hypercholesterolemia	Calcification of the aorta, Hypertension, Precocious atherosclerosis, Peripheral arterial stenosi...	ORPHA:391665
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Pulmonary insufficiency, Aortic regurgitation, Tricuspid regurgitation, Right atrial enlargement,...	ORPHA:555877
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Mercury Poisoning	Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Mitochondrial Trifunctional Protein Deficiency	Respiratory insufficiency, Respiratory failure, Equinus calcaneus	ORPHA:746
Hypercholanemia, Familial 1	Rickets, Steatorrhea, Fat malabsorption	OMIM:607748
Pallister-Killian Syndrome	Everted lower lip vermilion, Intestinal malrotation, Bifid uvula, Wide mouth, Umbilical hernia, L...	OMIM:601803
Autosomal Recessive Cutis Laxa Type 1	Pneumothorax, Emphysema, Pathologic fracture, Respiratory insufficiency, Joint subluxation, Pylor...	ORPHA:90349
Congenital Tracheomalacia	Pneumothorax, Emphysema, Esophageal atresia, Tracheomalacia, Respiratory insufficiency, Tracheobr...	ORPHA:95430
Boutonneuse Fever	Respiratory failure	ORPHA:83313
Renal Tubular Acidosis, Proximal	Short stature, Rickets, Osteomalacia	OMIM:179830
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Short nose, Anteverted nares, Growth delay, Hypoplasia of teeth	OMIM:234050
Phosphoribosylpyrophosphate Synthetase Superactivity	Short nose, Death in childhood, High palate, Short stature, Wide mouth, Gout, Convex nasal ridge,...	OMIM:300661
Leigh Syndrome	Intrauterine growth retardation, Respiratory failure, Multiple joint contractures, Growth delay	ORPHA:506
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Cholelithiasis, Normochromic anemia, Nonspherocytic hemolytic anemia...	OMIM:235700
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Atrioventricular canal defect, Cyst of the ductus choledochus, Spina bifida, Coarctation of aorta...	OMIM:619480
Brain Malformations With Or Without Urinary Tract Defects	Short nose, Anteverted nares, Narrow mouth, Metopic synostosis, Thin upper lip vermilion	OMIM:613735
Cog1-Cdg	Postnatal growth retardation, Osteopenia, Rhizomelia, Short long bone, Flat acetabular roof, High...	ORPHA:263508
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia	OMIM:607143
Becker Nevus Syndrome	Abnormal tibia morphology, Spina bifida occulta, Micromelia	ORPHA:64755
Charcot-Marie-Tooth Disease, Type 4C	Tongue fasciculations, Hammertoe, Talipes equinovarus, Tongue atrophy	OMIM:601596
Cutis Laxa, Autosomal Recessive, Type Ib	Retrognathia, Pulmonary artery aneurysm, Death in childhood, Emphysema, High palate, Bowing of th...	OMIM:614437
Gaucher Disease	Corneal opacity, Retinopathy, Leukopenia, Splenomegaly, Hydrops fetalis, Pancytopenia, Splenic in...	ORPHA:355
Myopathy, Myofibrillar, 7	Shoulder flexion contracture, Elbow flexion contracture, Achilles tendon contracture, Flexion con...	OMIM:617114
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous clef...	OMIM:192445
Loeys-Dietz Syndrome 6	Arterial tortuosity, Vertebral artery aneurysm, Ventricular hypertrophy, Transient ischemic attac...	OMIM:619656
Alport Syndrome 3A, Autosomal Dominant	Hypophosphatemia, Azotemia	OMIM:104200
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hypoparathyroidism, Hypokalemia, Hypocalce...	ORPHA:699
Acrofacial Dysostosis, Cincinnati Type	Retrognathia, Pulmonary artery aneurysm, Tracheobronchomalacia, Femoral bowing, Median pseudoclef...	OMIM:616462
Craniofacial-Deafness-Hand Syndrome	Short nose, Hypoplasia of the maxilla, Ulnar deviation of the hand, Malar flattening, Narrow nari...	OMIM:122880
Genitopatellar Syndrome	Hypoplastic ischia, Malrotation of small bowel, Patellar dislocation, Short phalanx of finger, Ra...	OMIM:606170
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Hypoparathyroidism, Hypocalcemia, Parathyroid hypoplasia, Diabetes mellitus	ORPHA:2237
Renal Agenesis, Bilateral	Sirenomelia, Non-midline cleft of the upper lip, Abnormal intestine morphology, Depressed nasal r...	ORPHA:1848
Protoporphyria, Erythropoietic, X-Linked	Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Cholelithiasis	OMIM:300752
Hypoglossia-Hypodactylia	Retrognathia, Adactyly, Narrow mouth, Split hand, Micrognathia, Microglossia, Aglossia	OMIM:103300
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Growth delay, Rickets	OMIM:602722
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Coronary artery atherosclerosi...	ORPHA:77293
Macrocephaly/Autism Syndrome	Short nose, Long philtrum, High palate, Joint hypermobility, Depressed nasal bridge	OMIM:605309
Hereditary Mucoepithelial Dysplasia	Gingival overgrowth, Furrowed tongue, Tracheoesophageal fistula, Pulmonary fibrosis, Recurrent re...	ORPHA:1839
Gitelman Syndrome	Delayed puberty, Hypermagnesemia, Maternal diabetes, Hypokalemia, Hypocalcemia, Graves disease, H...	ORPHA:358
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Renal Nutcracker Syndrome	Anemia, Orthostatic hypotension, Tachycardia, Syncope, Renal artery stenosis, Vulval varicose vei...	ORPHA:71273
Serkal Syndrome	Growth delay, Orofacial cleft, Pulmonary hypoplasia, Malrotation of small bowel	ORPHA:139466
Distal Deletion 12Q	Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Long philtrum, Overlapping toe, Antev...	ORPHA:96149
Cronkhite-Canada Syndrome	Intestinal polyposis, Stomach cancer, Furrowed tongue, Hamartomatous polyposis, Colon cancer, Hyp...	ORPHA:2930
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Respiratory insufficiency, Respiratory failure	OMIM:613845
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Long nose, Joint hypermobility, Intrauterine growth retardation, Short 5th finger, Short finger, ...	OMIM:619522
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short nose, Genu valgum, Cleft soft palate, Short stature, Intestinal malrotation, Downturned cor...	OMIM:619321
Chronic Thromboembolic Pulmonary Hypertension	Congestive heart failure, Increased pulmonary vascular resistance, Syncope, Right bundle branch b...	ORPHA:70591
Hereditary Acrokeratotic Poikiloderma	Abnormal metacarpal morphology, Abnormal hip bone morphology, Finger syndactyly, Open bite, Gingi...	ORPHA:2907
Diaphragmatic Hernia 4, With Cardiovascular Defects	Clinodactyly of the 5th finger, 11 pairs of ribs, Finger syndactyly, 2-3 toe syndactyly, Aortopul...	OMIM:620025
Facioscapulohumeral Muscular Dystrophy 1	Tongue atrophy	OMIM:158900
Infantile Krabbe Disease	Respiratory failure, Ankle clonus	ORPHA:206436
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Recurrent tonsillitis, Dehydration, Hypovolemic shock, Arrhythmia	ORPHA:171876
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Bifid uvula, Broad philtrum, Intrauterine growth retardation, Clinodactyly, Choanal atresia, Shor...	OMIM:620186
Combined Oxidative Phosphorylation Defect Type 23	Respiratory failure	ORPHA:444013
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Varicose veins, Lymphedema, Venous malformation	OMIM:613089
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Neoplasm of the nervous system, Intermittent jaundice, Ascites, Chroni...	ORPHA:100086
Renal Tubular Dysgenesis	Respiratory insufficiency, Widely patent fontanelles and sutures, Pulmonary hypoplasia	OMIM:267430
Renal And Mullerian Duct Hypoplasia	Severe postnatal growth retardation, Short nose, Micrognathia	OMIM:266810
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Talipes equinovarus, Tongue atrophy	OMIM:616155
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Conjunctival icterus, Increased mean corpuscular hemoglob...	OMIM:194380
Okamoto Syndrome	Polydactyly, Short nose, Anal stenosis, Severe postnatal growth retardation, Anteverted nares, Un...	ORPHA:2729
Pelizaeus-Merzbacher Disease, Connatal Form	Short stature, Respiratory failure	ORPHA:280210
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Growth delay, Respiratory failure	ORPHA:3240
Malignant Atrophic Papulosis	Respiratory failure, Intestinal fistula, Intestinal perforation, Pleural effusion	ORPHA:679
Poliomyelitis	Respiratory failure requiring assisted ventilation, Respiratory failure, Stiff neck, Paralytic ileus	ORPHA:2912
Specc1L-Related Hypertelorism Syndrome	Short nose, Advanced eruption of teeth, Orofacial cleft, Clinodactyly of the 5th finger, Thin ver...	ORPHA:1519
Hyperbiliverdinemia	Decreased liver function, Cholestasis, Cholelithiasis	OMIM:614156
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Keratoconjunctivitis, Asplenia, Cat...	OMIM:240300
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Polydactyly, Short 5th toe, 2-4 toe cutaneous syndactyly, Supernumerary tooth, Retrognathia, Oste...	ORPHA:268261
Tetraamelia Syndrome 1	Single naris, Choanal atresia, Anal atresia, Hypoplastic pelvis, Cleft upper lip, Micrognathia, T...	OMIM:273395
Esophageal Atresia	Bronchitis, Laryngotracheomalacia, Barrett esophagus, Choanal atresia, Tracheoesophageal fistula,...	ORPHA:1199
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Short stature, Rickets	OMIM:611590
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Short nose, Long philtrum, Sandal gap, Recurrent bronchitis, Mandibular prognathia, Prominent nas...	OMIM:620330
Microphthalmia With Linear Skin Defects Syndrome	Retrognathia, Wide nose, Abnormal dental enamel morphology, Abnormal rectum morphology, Mandibula...	ORPHA:2556
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory insufficiency, Respiratory failure	OMIM:609015
Menkes Disease	Abnormal carotid artery morphology, Gastrointestinal hemorrhage, Vascular dilatation, Venous insu...	ORPHA:565
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Autosomal Recessive Malignant Osteopetrosis	Osteopetrosis, Reduced bone mineral density, Hypocalcemia, Hypophosphatemia, Craniosynostosis, Re...	ORPHA:667
Matthew-Wood Syndrome	Intrauterine growth retardation, Abnormal lung morphology, Duodenal stenosis, Pulmonary hypoplasia	ORPHA:2470
Cerebrofaciothoracic Dysplasia	Short nose, Wide nose, Short stature, Cleft upper lip, Cleft palate, Wide mouth, Broad philtrum	ORPHA:1394
Renal Hypodysplasia/Aplasia 1	Retrognathia, Pulmonary hypoplasia, Talipes equinovarus	OMIM:191830
Sarcoidosis	Abnormality of the adrenal glands, Diabetes insipidus, Hypothyroidism, Hypercalcemia, Hyperthyroi...	ORPHA:797
Amyotrophic Lateral Sclerosis 27, Juvenile	Respiratory insufficiency, Tongue fasciculations, Tongue atrophy	OMIM:620285
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Pulmonary sequestration, Intestinal malrotation, Pulmonary hypoplasia, Neona...	ORPHA:2847
Williams-Beuren Syndrome	Osteopenia, Osteoporosis, Hypothyroidism, Early onset of sexual maturation, Hypercalcemia, Flexio...	OMIM:194050
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Polydactyly, Short long bone, Brachydactyly, Short stature	OMIM:613819
Cerebrotendinous Xanthomatosis	Optic atrophy, Premature coronary artery atherosclerosis, Cholelithiasis, Juvenile cataract, Opti...	ORPHA:909
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Aplasia/Hypoplasia of the phalanges of the toe...	ORPHA:1112
Mitochondrial Complex I Deficiency, Nuclear Type 1	Respiratory insufficiency, Tongue fasciculations, Death in infancy, Growth delay, Respiratory fai...	OMIM:252010
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Supernumerary tooth, Aplasia of the epiglottis, Short clavicles, Short ribs, Postaxial hand polyd...	OMIM:617088
Ramos-Arroyo Syndrome	Deviated nasal septum, Aganglionic megacolon, Smooth tongue, Anteverted nares, Xerostomia, Narrow...	ORPHA:1051
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Neurodegeneration With Brain Iron Accumulation 2A	Short nose, Micrognathia	OMIM:256600
Neonatal Marfan Syndrome	High, narrow palate, Emphysema, Long toe, Arachnodactyly, Long fingers, Micrognathia, Flexion con...	ORPHA:284979
Neurodegeneration And Seizures Due To Copper Transport Defect	Pneumothorax, Pulmonary hypoplasia, Short femur, Short tibia, Talipes equinovarus	OMIM:620306
Listeriosis	Stiff neck, Miscarriage, Septic arthritis, Pneumonia, Respiratory failure, Osteomyelitis	ORPHA:533
Congenital Diaphragmatic Hernia	Intestinal malrotation, Pulmonary hypoplasia	ORPHA:2140
Proteus Syndrome	Arteriovenous malformation, Lipoma, Lymphangioma, Splenomegaly, Neoplasm, Thymus hyperplasia, Cen...	ORPHA:744
Molybdenum Cofactor Deficiency, Complementation Group B	Short nose, Growth delay, Neonatal death, Thick vermilion border, Long philtrum	OMIM:252160
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Short nose, Everted upper lip vermilion, Conical tooth, Underdeveloped nasal alae, Everted lower ...	OMIM:305100
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypocalcemia, Hypoproteinemia	ORPHA:1655
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Retrognathia, Short philtrum, Short long bone, Downturned corners of mouth, Disproportionate shor...	OMIM:301110
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Slc39A8-Cdg	Osteopenia, Disproportionate short-limb short stature, Elbow flexion contracture, Short stature, ...	ORPHA:468699
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Clinodactyly of the 5th finger, Anteverted nares, Broad alveolar ridges, High palate, Choanal atr...	OMIM:616975
Ehlers-Danlos Syndrome, Vascular Type	Hypermobility of distal interphalangeal joints, Repeated pneumothoraces, Narrow nasal ridge, Join...	OMIM:130050
Congenital Bile Acid Synthesis Defect Type 2	Postnatal growth retardation, Rickets, Fat malabsorption, Steatorrhea	ORPHA:79303
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
Acromelic Frontonasal Dysostosis	U-Shaped upper lip vermilion, Midline defect of the nose, Patellar hypoplasia, Encephalocele, Bif...	OMIM:603671
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Growth delay, Respiratory arrest, Neonatal death, Respiratory failure	OMIM:617248
Cimdag Syndrome	Hepatomegaly, Retinal dystrophy, Cholelithiasis, Microvesicular hepatic steatosis, Developmental ...	OMIM:619273
Hereditary Elliptocytosis	Jaundice, Hydrops fetalis, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal ja...	ORPHA:288
Familial Cerebral Cavernous Malformation	Choroidal hemangioma, Retinal cavernous hemangioma, Venous malformation, Hemangioma, Meningioma, ...	ORPHA:221061
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Multiple joint dislocation, Dental crowding, Internally rotated shoulders, Agenesis of permanent ...	OMIM:619503
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Norrie Disease	Abnormal chorioretinal morphology, Optic atrophy, Abnormal vitreous humor morphology, Aplasia/Hyp...	ORPHA:649
Adult-Onset Still Disease	Pleuritis, Arthritis, Arthralgia/arthritis, Cartilage destruction, Joint swelling, Interstitial p...	ORPHA:829
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Short nose, 2-3 toe syndactyly, Prominent nasal tip, Bilateral talipes equinovarus, Equinus calca...	ORPHA:522077
Peripartum Cardiomyopathy	Respiratory failure	ORPHA:563
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly	OMIM:605479
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Micromelia, Short phalanx of finger, Severe short stature, Brachydactyly	OMIM:600092
Nocardiosis	Pneumothorax, Emphysema, Pleuritis, Pleural effusion, Pneumonia, Respiratory failure, Osteomyelitis	ORPHA:31204
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Broad philtrum, Intrauterine growth retardation, Joint hypermobility, Short uvul...	OMIM:619475
Trichohepatoneurodevelopmental Syndrome	Decreased liver function, Hepatomegaly, Astigmatism, Patent ductus arteriosus, Cholelithiasis, Po...	OMIM:618268
Abetalipoproteinemia	Osteopenia, Steatorrhea, Respiratory failure, Fat malabsorption, Talipes equinovarus	ORPHA:14
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Meacham Syndrome	Stillbirth, Death in childhood, Cardiac total anomalous pulmonary venous connection, Scimitar ano...	OMIM:608978
Toriello-Lacassie-Droste Syndrome	Short nose, Aganglionic megacolon, Anteverted nares, Growth delay, Short palm, Brachydactyly	ORPHA:3339
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Optic atrophy, Right atrial enlargement, Chorioretinal coloboma, Atrial septal defect, Macular hy...	OMIM:615219
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia	ORPHA:466650
Foix-Alajouanine Syndrome	Arteriovenous fistula, Myelopathy, Cervical myelopathy, Venous malformation	ORPHA:79093
Lowe Oculocerebrorenal Syndrome	Postnatal growth retardation, Wrist swelling, Joint contracture of the hand, Genu valgum, Rickets...	OMIM:309000
Sotos Syndrome	Ankle flexion contracture, Bilateral camptodactyly, Hypothyroidism, Hip contracture, Hypercalcemi...	ORPHA:821
Ethylene Glycol Poisoning	Hypocalcemia, Hyperkalemia	ORPHA:31826
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Hypocalcemia, Hyponatremia, Septic arthritis, Diabetes mellitus	ORPHA:544482
Velocardiofacial Syndrome	Hypocalcemia, Hypoparathyroidism	OMIM:192430
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Death in childhood, Patent urachus	OMIM:618252
Loeys-Dietz Syndrome 3	Arterial tortuosity, Ventricular hypertrophy, Tortuous cerebral arteries, Aortic tortuosity, Pulm...	OMIM:613795
Orofaciodigital Syndrome Type 14	Supernumerary tooth, Deviation of the hallux, Aplasia of the epiglottis, Postaxial hand polydacty...	ORPHA:434179
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Sialuria	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hepatosple...	ORPHA:3166
Hutchinson-Gilford Progeria Syndrome	Retrognathia, Abnormal nasal tip morphology, Reduced bone mineral density, Narrow nasal ridge, Na...	ORPHA:740
Cerebrotendinous Xanthomatosis	Cholelithiasis, Angina pectoris, Optic disc pallor, Cataract, Myocardial infarction	OMIM:213700
Arteriovenous Malformations Of The Brain	Cerebral arteriovenous malformation	OMIM:108010
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Respiratory failure, Pneumonia, Respiratory t...	ORPHA:79138
Lelis Syndrome	Hypodontia, Carious teeth, Mandibular prognathia, Furrowed tongue	ORPHA:140936
Glycogen Storage Disease Vii	Jaundice, Cholelithiasis, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentrati...	OMIM:232800
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperbilirubinemia, Hypophosphatemia, Hyperuricemia	OMIM:229600
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Steatorrhea, Fat malabsorption	OMIM:607765
8P Inverted Duplication/Deletion Syndrome	Dextrocardia, Abnormal heart morphology, Tetralogy of Fallot, Cryptorchidism, Aplasia/Hypoplasia ...	ORPHA:96092
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Short stature, Rickets, Recurrent fractures	OMIM:268315
Psoriasis 14, Pustular	Geographic tongue, Oligoarthritis, Furrowed tongue, Polyarticular arthritis	OMIM:614204
Cowden Syndrome 5	High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Hypoplasia of the maxilla, M...	OMIM:615108
Noonan Syndrome 3	Short nose, Anteverted nares, High palate, Short stature, Left unilambdoid synostosis, Hypoplasti...	OMIM:609942
1P21.3 Microdeletion Syndrome	Short nose, Micrognathia, Broad nasal tip, Wide mouth, Joint hypermobility	ORPHA:293948
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Hemorrhagic Fever-Renal Syndrome	Pulmonary edema, Pleural effusion, Epistaxis, Pneumonia, Respiratory failure	ORPHA:340
Orofaciodigital Syndrome Xiv	Supernumerary tooth, Preaxial polydactyly, Aplasia of the epiglottis, Occipital encephalocele, Sh...	OMIM:615948
Giant Cell Arteritis	Recurrent pharyngitis, Glossitis, Arthritis, Joint stiffness, Epistaxis, Abnormal pleura morphology	ORPHA:397
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Short nose, Joint stiffness, Thick vermilion border, Flexion contracture, Recurrent respiratory i...	ORPHA:505248
Branchiooculofacial Syndrome	Proximal placement of thumb, Malrotation of colon, Intrauterine growth retardation, Elbow flexion...	OMIM:113620
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Hyperbilirubinemia, Hyperextensibility of the finger joints	ORPHA:163979
Cowden Syndrome 6	High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Hypoplasia of the maxilla, M...	OMIM:615109
Encephalocraniocutaneous Lipomatosis	Osteochondrosis, Craniofacial hyperostosis, Bone cyst, Abnormal cartilage morphology, Osteolysis	ORPHA:2396
Steinert Myotonic Dystrophy	Respiratory failure requiring assisted ventilation, Intestinal pseudo-obstruction, Respiratory in...	ORPHA:273
Distal Renal Tubular Acidosis	Rickets, Reduced bone mineral density, Short stature, Growth delay, Respiratory insufficiency due...	ORPHA:18
Viss Syndrome	Rocker bottom foot, Retrognathia, Pulmonary artery aneurysm, Recurrent joint dislocation, Intesti...	OMIM:619472
Plummer-Vinson Syndrome	Cheilitis, Glossitis, Intra-oral hyperpigmentation, Narrow mouth, Esophageal web, Tongue atrophy	ORPHA:54028
Methylmalonic Acidemia With Homocystinuria Type Cblf	Stomatitis, Glossitis, Growth delay, Cleft palate, Intrauterine growth retardation	ORPHA:79284
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Esophageal varix, Neonatal death, Pulmonary hypoplasia	OMIM:263200
Osteopetrosis With Renal Tubular Acidosis	Osteopetrosis, Hypocalcemia, Elevated circulating creatine kinase concentration, Secondary hyperp...	ORPHA:2785
Oligomeganephronia	Pulmonary venous occlusion, Micrognathia, Pulmonary hypoplasia, Branchial cyst	ORPHA:2260
Acquired Hypertrichosis Lanuginosa	Glossitis, Macroglossia	ORPHA:2221
Pancreatic Colipase Deficiency	Megaloblastic anemia, Exocrine pancreatic insufficiency, Cholelithiasis	ORPHA:309108
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Astigmatism, Cyst of the ductus choledochus, Hypoplastic nipples, Cardiomyopathy, Patent ductus a...	ORPHA:480880
Sarcoidosis, Susceptibility To, 1	Abnormal pulmonary interstitial morphology, Abnormal salivary gland morphology, Emphysema, Arthri...	OMIM:181000
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
Hennekam Syndrome	Hypocalcemia, Craniosynostosis, Camptodactyly of finger	ORPHA:2136
Niemann-Pick Disease Type C	Respiratory insufficiency, Aspiration pneumonia, Abnormal lung morphology, Respiratory failure, P...	ORPHA:646
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Steatorrhea, Osteoporosis, Growth delay, Osteomalacia, Colitis	ORPHA:309031
Genitourinary And/Or Brain Malformation Syndrome	Ileal atresia, Short nose, Joint stiffness, Aplasia of the nasal bone, Micrognathia, Syndactyly, ...	OMIM:618820
Cranioectodermal Dysplasia 1	Hypocalcemia, Joint hypermobility, Sagittal craniosynostosis, Osteoporosis	OMIM:218330
Immunodeficiency 82 With Systemic Inflammation	Duodenal ulcer, Villous atrophy, Gastritis, Anoperineal fistula, Bronchitis, Arthritis, Osteomala...	OMIM:619381
Cowden Syndrome 1	High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Hypoplasia of the maxilla, M...	OMIM:158350
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Rectovaginal fistula, Postaxial hand polydactyly, Anal atresia, Congenital...	OMIM:236700
Charcot-Marie-Tooth Disease Type 4C	Difficulty in tongue movements, Hammertoe, Respiratory insufficiency, Tongue fasciculations, Hip ...	ORPHA:99949
Molybdenum Cofactor Deficiency, Complementation Group A	Growth delay, Short nose, Thick vermilion border, Long philtrum	OMIM:252150
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Short ribs, Missing ribs, Anal atresia, Block vertebrae, Pulmonary hypoplasia, Vertebral fusion	OMIM:271520
Bohring-Opitz Syndrome	Optic atrophy, Annular pancreas, Cardiomegaly, Cholelithiasis, Bradycardia, Retinal atrophy, Medu...	ORPHA:97297
Pagod Syndrome	Encephalocele, Meningocele, Pulmonary artery hypoplasia, Short stature, Spina bifida, Death in in...	ORPHA:991
Trichorhinophalangeal Syndrome, Type Ii	Astigmatism, Osteoma, Osteochondroma, Internal carotid artery dissection, Rib exostoses, Scapular...	OMIM:150230
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Stomatitis, Glossitis, High palate, Tracheoesophageal fistula, Short stature, Thin upper lip verm...	OMIM:277380
Meckel Syndrome	Anencephaly, Encephalocele, Postaxial hand polydactyly, Bowing of the long bones, Depressed nasal...	ORPHA:564
Alkaptonuria	Abnormality of the nose, Reduced bone mineral density, Joint dislocation, Arthritis, Joint stiffn...	ORPHA:56
Hartnup Disease	Short stature, Glossitis, Gingivitis	ORPHA:2116
T-Cell Immunodeficiency With Thymic Aplasia	Hypothyroidism, Thyroiditis, Hypocalcemic tetany, Aplasia of the thymus	ORPHA:83471
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology	ORPHA:293807
Mucoepithelial Dysplasia, Hereditary	Furrowed tongue, Erythematous oral mucosa, Recurrent pneumonia, Pneumonia, Fibrocystic lung disease	OMIM:158310
Tuberous Sclerosis Complex	Respiratory failure, Pulmonary lymphangiomyomatosis, Respiratory tract infection	ORPHA:805
Hereditary Folate Malabsorption	Glossitis, Recurrent respiratory infections, Cheilitis	ORPHA:90045
Ectodermal Dysplasia-Skin Fragility Syndrome	Cheilitis, Anoperineal fistula, Abnormal tongue morphology, Abnormality of the dentition, Short s...	ORPHA:158668
Glomuvenous Malformation	Arteriovenous malformation, Gastrointestinal arteriovenous malformation, Venous malformation	ORPHA:83454
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Cholelithiasis, Myopic astigmatism, Hepatosplenomegaly, Umbilical hernia, Cholecyst...	OMIM:301066
Microphthalmia, Syndromic 1	Radial deviation of finger, Dental crowding, Prominent fingertip pads, Syndactyly, Agenesis of ma...	OMIM:309800
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Cholelithiasis, Corneal scarring, Thrombocytopenia, Splenomegaly, Conjunc...	OMIM:263700
Acrodermatitis Enteropathica	Cheilitis, Glossitis, Furrowed tongue, Short stature, Abnormality of the tongue	ORPHA:37
Thoracoabdominal Syndrome	Cleft upper lip, Cleft palate, Pulmonary hypoplasia, Anencephaly	OMIM:313850
Spinocerebellar Ataxia Type 36	Tongue fasciculations, Tongue atrophy	ORPHA:276198
Wilson Disease	Hyposmia, Osteomalacia, Esophageal varix, Osteoporosis, Osteoarthritis, Joint hypermobility, Chon...	OMIM:277900
Hypermobile Ehlers-Danlos Syndrome	Venous insufficiency, Aortic root aneurysm, Keratoconus, Ascending tubular aorta aneurysm, Arteri...	ORPHA:285
Charcot-Marie-Tooth Disease Type 1F	Flexion contracture of finger, Tongue atrophy	ORPHA:101085
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Knee flexion contracture, Elbow flexion contracture, Furrowed tongue, Microdontia, Oral leukoplakia	OMIM:148210
Spinocerebellar Ataxia 36	Tongue fasciculations, Tongue atrophy	OMIM:614153
Cardiac-Urogenital Syndrome	Partial anomalous pulmonary venous return, Tracheomalacia, Scimitar anomaly, 2-3 toe syndactyly, ...	OMIM:618280
Dpagt1-Cdg	Osteoporosis, Camptodactyly, Arachnodactyly, Pulmonary hypoplasia, Flexion contracture, Clinodactyly	ORPHA:86309
Penile Agenesis	Short nose, Rectal fistula, Bilateral lung agenesis, Tracheoesophageal fistula, Bilateral talipes...	ORPHA:49
Charcot-Marie-Tooth Disease Type 4B2	Respiratory insufficiency, Difficulty in tongue movements, Tongue atrophy	ORPHA:99956
Melkersson-Rosenthal Syndrome	Cheilitis, Macroglossia, Furrowed tongue	ORPHA:2483
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Ileal atresia, Pulmonary hypoplasia, Microcolon	OMIM:619351
Renal Agenesis	Anal atresia, Pulmonary hypoplasia, Talipes equinovarus	ORPHA:411709
Metachromatic Leukodystrophy	Neoplasm of the gallbladder, Hemobilia, Abnormal gallbladder morphology	ORPHA:512
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Joint contracture of the hand, Congenital finger flexion contractures, Respiratory insufficiency ...	ORPHA:466768
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Smooth tongue, Growth delay, Enamel hypoplasia, Craniosynostosis, Oral mucosal blisters	ORPHA:79396
Agel Amyloidosis	Respiratory tract infection, Xerostomia, Tongue atrophy	ORPHA:85448
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Craniofacial Microsomia 1	Occipital encephalocele, Genu valgum, Transverse facial cleft, Branchial anomaly, Maxillozygomati...	OMIM:164210
Odontoonychodermal Dysplasia	Conical incisor, Smooth tongue, Abnormality of primary teeth, Hypodontia, Agenesis of permanent t...	OMIM:257980
Cowden Syndrome	Colorectal polyposis, Bone cyst, High palate, Furrowed tongue, Hamartomatous polyposis, Short sta...	ORPHA:201
Lipodystrophy, Familial Partial, Type 7	Short nose, Narrow nasal ridge, Pleural effusion, Narrow mouth, Spontaneous pneumothorax, Pulmona...	OMIM:606721
Kawasaki Disease	Abnormal pulmonary interstitial morphology, Cheilitis, Recurrent pharyngitis, Glossitis, Arthriti...	ORPHA:2331
Microsporidiosis	Glossitis, Bronchitis, Bronchiolitis, Sinusitis, Rhinitis, Pneumonia, Osteomyelitis	ORPHA:2552
Generalized Arterial Calcification Of Infancy	Stippled calcification of the elbow, Hypophosphatemic rickets, Fused cervical vertebrae, Abnormal...	ORPHA:51608
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Stomatitis, Glossitis, Growth delay, Smooth philtrum, Intrauterine growth retardation	ORPHA:79282
Charge Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Hypoparathyroidism, Hypoc...	OMIM:214800
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Anomalous origin of left pulmonary artery from ascending aorta, Anomalous origin of right pulmona...	ORPHA:99050
Johanson-Blizzard Syndrome	Hypocalcemia, Primary hypothyroidism, Increased VLDL cholesterol concentration, Hypothyroidism, C...	OMIM:243800
Peroxisome Biogenesis Disorder 4B	Short nose	OMIM:614863
Imerslund-Gräsbeck Syndrome	Glossitis, Angular cheilitis	ORPHA:35858
Plague	Acute infectious pneumonia, Arthritis, Glossitis, Inflammation of the large intestine, Enterocoli...	ORPHA:707
Pachyonychia Congenita 3	Furrowed tongue, Gingivitis, Chapped lip, Oral leukoplakia	OMIM:615726
Congenital Total Pulmonary Venous Return Anomaly	Respiratory failure requiring assisted ventilation, Infracardiac total anomalous pulmonary venous...	ORPHA:99125
Carney Complex	Esophageal neoplasm, Paranasal sinus neoplasm, Abnormal hard palate morphology, Neoplasm of the s...	ORPHA:1359
Failure Of Tooth Eruption, Primary	Hypodontia, Failure of eruption of permanent teeth, Persistence of primary teeth	OMIM:125350

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 Pth1r

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 Pth1r.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Pth1r^{tm1a(EUCOMM)Hmgu}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Pth1r^{tm1a(EUCOMM)Hmgu}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Pth1r^{tm1a(EUCOMM)Hmgu}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Pth1r^{tm1a(EUCOMM)Hmgu}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Pth1r^{tm1a(EUCOMM)Hmgu}	PMC5827107
Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice.	Wellcome open research (January 2016)	Pth1r^{tm1a(EUCOMM)Hmgu}	PMC5159622

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Pth1r^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Pth1r^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Pth1r^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

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: Pth1r MGI:97801

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

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X-ray

DSS Histology

Anti-nuclear antibody assay

X-ray

Eye Morphology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Pth1r mutations

Histopathology

IMPC related publications

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