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

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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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DSS Histology

Images

8 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

20 Images

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X-ray

XRay Images Skull Lateral Orientation

14 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 (1606 diseases)

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

Disease	Matching phenotypes	Source
Blomstrand Lethal Chondrodysplasia	Micrognathia, Neonatal short-limb short stature, Distal shortening of limbs, Short metacarpal, In...	ORPHA:50945
Chondrodysplasia, Blomstrand Type	Depressed nasal bridge, Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones...	OMIM:215045
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Osteopenia, Hip contracture, Hypercalcemia, Knee flexion contracture, Hypopho...	OMIM:156400
Ollier Disease	Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis...	ORPHA:296
Eiken Syndrome	Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal trabecular ...	ORPHA:79106
Eiken Syndrome	Short stature, Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular...	OMIM:600002
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, 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	Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se...	OMIM:618883
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath...	OMIM:203330
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P...	OMIM:618728
Hyperparathyroidism 1	Primary hyperparathyroidism, Hypercalcemia	OMIM:145000
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Hyperparathyroidism 4	Osteopenia, Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia	OMIM:617343
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Anteverted nares, Micrognathia, Dyspnea, Depressed nasal ridge, Gingival fi...	ORPHA:1832
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Parathyroid Carcinoma	Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia	OMIM:608266
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Abnormal hand bone ossifi...	OMIM:200600
Atelosteogenesis, Type Ii	Death in infancy, Depressed nasal bridge, Sandal gap, Micromelia, Micrognathia, Bifid humerus, La...	OMIM:256050
Blomstrand Lethal Chondrodysplasia	Micrognathia, Neonatal short-limb short stature, Distal shortening of limbs, Short metacarpal, In...	ORPHA:50945
Raine Syndrome	Mandibular prognathia, Micromelia, Micrognathia, High palate, Choanal stenosis, Microdontia, Neon...	OMIM:259775
Familial Isolated Hyperparathyroidism	Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone ...	ORPHA:99879
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber...	OMIM:156530
Blue Diaper Syndrome	Decreased circulating T4 concentration, Hyperphosphatemia, Elevated circulating thyroid-stimulati...	ORPHA:94086
Marshall-Smith Syndrome	Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue,...	ORPHA:561
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat...	ORPHA:2302
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Depressed nasal bridge, Anteverted nares, Pneumonia, Protruding tongue, Malabsorption,...	OMIM:242860
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Par...	OMIM:617994
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Brachydactyly, Anteverted nares, Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Drum...	OMIM:612938
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Depressed nasal bridge...	OMIM:313420
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia	OMIM:619073
17Q21.31 Microduplication Syndrome	Toe syndactyly, Anteverted nares, Sandal gap, Abnormality of the dentition, Micrognathia, High pa...	ORPHA:217340
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Camptodactyly of finger, Intestinal malrotation, Protruding tongue, Ove...	OMIM:300963
Chondrodysplasia With Joint Dislocations, Gpapp Type	Micrognathia, Coronal craniosynostosis, Knee dislocation, Irregular epiphyses of the metacarpals,...	OMIM:614078
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath...	OMIM:603233
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Hypercalcemia, Parathyroid hyperplasia, Rickets, Elevated circulating parath...	OMIM:612089
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalce...	OMIM:146200
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal lung lobation, Cle...	ORPHA:2631
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short stature, Abnormal metacarpal morphology, Reduced bone mineral density, Abnormal pelvic gird...	ORPHA:2370
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroid...	ORPHA:2239
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Osteoarthritis, Delayed epiphyseal ossification, Meta...	ORPHA:750
Spondyloepimetaphyseal Dysplasia, Missouri Type	Disproportionate short stature, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bo...	ORPHA:93356
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Death in infancy, Short stature, Camptodactyly of finger, Micrognathia, Recurrent pneumonia, Grow...	ORPHA:1495
Feingold Syndrome 2	Short stature, Postnatal growth retardation, Short thumb, Short middle phalanx of the 2nd finger,...	OMIM:614326
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Respiratory insufficiency, Respiratory failure, Tongue fascicul...	OMIM:253300
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Joint laxity, Short stature, Ankle clonus, Respiratory failure, Tongue fasciculations, Hypoplasia...	OMIM:600561
Odontochondrodysplasia 1	Respiratory distress, Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger,...	OMIM:184260
Odontochondrodysplasia	Delayed eruption of teeth, Respiratory distress, Bowing of the long bones, Death in infancy, Depr...	ORPHA:166272
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Intellectual Developmental Disorder, X-Linked 91	Macrodontia, Small hand, Short foot, High palate, Short 5th finger, Cubitus valgus, Clinodactyly,...	OMIM:300577
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Osteopenia, Macrodontia, Prominent nasal bridge, Proximal placement of thu...	OMIM:212066
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate...	OMIM:311895
Congenital Disorder Of Glycosylation, Type Iie	Death in infancy, Wide nose, Overlapping fingers, Short stature, Protruding tongue, Micrognathia,...	OMIM:608779
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Micrognathia, Respiratory insufficiency due to muscle weakness, Hip dysplasia...	OMIM:611890
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Developmental And Epileptic Encephalopathy 80	Death in infancy, Tented upper lip vermilion, Protruding tongue, Tapered finger, Micrognathia, Wi...	OMIM:618580
Peroxisome Biogenesis Disorder 1A (Zellweger)	Neonatal respiratory distress, Ulnar deviation of the hand, Anteverted nares, Rocker bottom foot,...	OMIM:214100
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br...	OMIM:615294
Pierre Robin Syndrome	Neonatal respiratory distress, Micrognathia, Pierre-Robin sequence, Upper airway obstruction, Cle...	OMIM:261800
Down Syndrome	Joint laxity, Depressed nasal bridge, Aganglionic megacolon, Sandal gap, Protruding tongue, Abnor...	ORPHA:870
Pallister-Hall-Like Syndrome	Occipital encephalocele, Death in infancy, Median cleft lip, Depressed nasal bridge, Toe syndacty...	OMIM:241800
Legg-Calvé-Perthes Disease	Joint dislocation, Short stature, Cartilage destruction, Abnormality of the dentition	ORPHA:2380
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening,...	OMIM:251450
Thymic Neuroendocrine Tumor	Osteopenia, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm o...	ORPHA:97289
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Lethal Recessive Chondrodysplasia	Respiratory distress, Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short l...	ORPHA:1423
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Recurrent respiratory infections, Anteverted nares, Protrudin...	OMIM:610253
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ...	ORPHA:2502
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Necrotizing enterocolitis, Toe syndactyly, Anteverted nares, Depress...	OMIM:616809
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Hypoplasia of the radius, Mesomelic short stature, Short tibia, Neonatal short-limb short stature...	OMIM:156230
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the knee, Abnormality of the epiphyses of the elbow, Short stature, Osteoarthritis...	ORPHA:166002
Acromicric Dysplasia	Short palm, Short metacarpal, Brachydactyly, Anteverted nares, Severe short stature, Joint stiffn...	ORPHA:969
Meconium Aspiration Syndrome	Respiratory distress, Abnormal pulmonary thoracic imaging finding, Neonatal asphyxia, Wheezing, P...	ORPHA:70588
Pseudohypoparathyroidism Type 2	Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone...	ORPHA:94090
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Aplasia/Hypoplasi...	ORPHA:141152
Ring Chromosome 22 Syndrome	Protruding tongue, Bulbous nose, 2-3 toe syndactyly, Growth delay, Pleural effusion, Large hands,...	ORPHA:1446
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hyperparathyroidism, Hypercalcemia	ORPHA:2668
Diastrophic Dysplasia	Joint dislocation, Proximal placement of thumb, Micromelia, Micrognathia, Symphalangism affecting...	ORPHA:628
Pontocerebellar Hypoplasia, Type 1C	Respiratory insufficiency, Respiratory failure, Tongue fasciculations, Death in childhood, Joint ...	OMIM:616081
Lethal Congenital Contracture Syndrome 11	Microretrognathia, Flexion contracture, Elbow flexion contracture, Retrognathia, Distal arthrogry...	OMIM:617194
Spondyloepiphyseal Dysplasia, Nishimura Type	Recurrent respiratory infections, Osteoarthritis, Delayed epiphyseal ossification, Small hand, Co...	OMIM:618618
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f...	OMIM:619773
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Recurrent upper respiratory tract infections...	ORPHA:60032
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Ground-...	ORPHA:79126
Isolated Pierre Robin Syndrome	Neonatal respiratory distress, Micrognathia, Upper airway obstruction, Cleft palate, Glossoptosis	ORPHA:718
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Mandibular prognathia, Depressed nasal bridge, Joint hypermobility, Protruding tongue, Prominent ...	OMIM:617804
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Depressed nasal bridge, Prominent nasal bridge, Protruding tongue, Abnorma...	ORPHA:324410
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Convex nasal ridge, Abnorm...	ORPHA:1277
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Micromelia, Deep philtrum, Delayed epiphyseal ossification, Tachypnea, Death in childhood, Death ...	OMIM:613320
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Cleft palate...	OMIM:249710
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Short stature, Craniosynostosis, Micromelia, Micrognathia, Split hand, Cleft p...	ORPHA:2145
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Thin upper lip vermilion, Anteverted nares, Short stature, Micrognathia, Cleft palate, Short nose	ORPHA:2015
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Hypercalcemia, Craniosynostosis, Adrenal hypoplasia, Decreased response to growth hor...	OMIM:614732
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hyperparathyroidism, Hypercalcemia	OMIM:239199
Congenital Myopathy 14	Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi...	OMIM:618414
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir...	OMIM:616726
Hypercalcemia, Infantile, 1	Hypercalcemia, Decreased circulating parathyroid hormone level	OMIM:143880
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening...	ORPHA:536467
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Hamartoma of tongue, Atelectasi...	OMIM:269860
Waardenburg Syndrome Type 3	Narrow nasal bridge, Tented upper lip vermilion, Camptodactyly of finger, Joint stiffness, Atelec...	ORPHA:896
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Malar flattening, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Short...	OMIM:118651
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Widely-spaced maxillary central incisors, Depresse...	OMIM:301040
Fontaine Progeroid Syndrome	Mandibular prognathia, Micrognathia, High, narrow palate, Anteriorly placed anus, Oligodontia, Mi...	OMIM:612289
Metaphyseal Chondrodysplasia, Schmid Type	Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral bowing, Metaphyseal cuppin...	OMIM:156500
Catel-Manzke Syndrome	Short stature, Camptodactyly of finger, Metatarsus valgus, Micrognathia, Joint stiffness, Radial ...	ORPHA:1388
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Neonatal respiratory distress, Depressed nasal bridge, Ante...	OMIM:618961
Hyperekplexia 4	Flexion contracture, Respiratory failure, Distal arthrogryposis, High palate, Talipes equinovarus...	OMIM:618011
Dyssegmental Dysplasia, Silverman-Handmaker Type	Micromelia, Bowing of the legs, Micrognathia, Flexion contracture, Pterygium, Encephalocele, Wide...	ORPHA:1865
Larsen-Like Syndrome, Lethal Type	Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Respiratory insufficien...	OMIM:245650
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Micrognathia, Downturned corners of mouth, High palate, Abnormal bone ossification, Abnormal femo...	ORPHA:163649
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Poirier-Bienvenu Neurodevelopmental Syndrome	Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum	OMIM:618732
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ...	ORPHA:93296
Icf Syndrome	Recurrent respiratory infections, Depressed nasal bridge, Short stature, Malabsorption, Protrudin...	ORPHA:2268
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Short stature, Broad nasal tip, Protruding tongue, Submucous cleft hard palate, ...	OMIM:618106
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Depressed nasal bridge, Severe periodontitis, Overlapping toe, Protruding ...	ORPHA:99843
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Camptodactyly of finger, Cleft palate, Respiratory insufficiency, Restricti...	OMIM:614399
Hypocalcemia, Autosomal Dominant 1	Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul...	OMIM:601198
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Intestinal ma...	ORPHA:244
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory insufficiency due to muscle weakness, Respiratory failure, Flexion contracture, Death...	OMIM:300717
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Hypercalcemia, Hurthle cell thyroid adenoma, Parathyroid carcinoma, Parathyr...	OMIM:145001
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Dental crowding, Internally rotated shoulders, Ankle flexion contracture, Microg...	OMIM:617468
Microcephaly 26, Primary, Autosomal Dominant	Short stature, Prominent nasal bridge, Protruding tongue, Recurrent pneumonia, Wide nasal bridge,...	OMIM:619179
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Craniosynostosis, Mi...	ORPHA:93329
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Ground-glass opacification, Dyspnea, Desq...	OMIM:265120
Osseous Heteroplasia, Progressive	Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue	OMIM:166350
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Micromelia, Neonatal short-limb short stature, Severe limb shortening, Radi...	OMIM:151210
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Bowing of the long bones, Severe short stature, Micromelia, Micrognathia...	OMIM:224410
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Protruding tongue	DECIPHER:52
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Achondrogenesis Type 1B	Severe short stature, Anteverted nares, Micromelia, Micrognathia, Abnormal enchondral ossificatio...	ORPHA:93298
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Death in infancy, Rhizomelia, Short stature, Micrognathia, Hypoplastic iliac wing, Metaphyseal ch...	ORPHA:163966
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormality of the philtrum, Aplasia/Hypo...	ORPHA:2759
Achondrogenesis Type 1A	Severe short stature, Anteverted nares, Recurrent fractures, Micromelia, Micrognathia, Abnormal e...	ORPHA:93299
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Limite...	ORPHA:266
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Severe short stature, Growth delay, Respiratory failure, Aspiratio...	OMIM:619057
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Anteverted nares, Short stature, Micrognathia, Bulbous nose, Pierre-Rob...	OMIM:613604
Pseudopseudohypoparathyroidism	Abnormality of the endocrine system, Hyperphosphatemia, Elevated circulating parathyroid hormone ...	ORPHA:79445
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Metaphyseal Dysplasia Without Hypotrichosis	Joint laxity, Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of th...	OMIM:250460
14Q11.2 Microdeletion Syndrome	Toe clinodactyly, Toe syndactyly, Depressed nasal bridge, Exaggerated cupid's bow, Micrognathia, ...	ORPHA:261120
Acromicric Dysplasia	Short palm, Short metacarpal, Severe short stature, Anteverted nares, Bulbous nose, Thick lower l...	OMIM:102370
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture	OMIM:615883
Langer Mesomelic Dysplasia	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Aplasia/...	ORPHA:2632
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi...	OMIM:208540
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Hypophosphatemia	OMIM:146350
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Micrognathia, Flexion contracture, Elbow flexion contracture, Hip dislocation, Hyperext...	ORPHA:75840
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Protruding tongue, Gingi...	OMIM:618797
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Limited elbow movement, Limited w...	OMIM:617809
Achondrogenesis	Severe short stature, Anteverted nares, Micromelia, Micrognathia, Abnormal enchondral ossificatio...	ORPHA:932
Stuve-Wiedemann Syndrome 2	Respiratory distress, Bowing of the long bones, Death in adolescence, Pulmonary arterial hyperten...	OMIM:619751
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto...	OMIM:135100
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Atelectasis, High palate, Neonatal death, Retrognathia, J...	OMIM:300219
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Glutamine Deficiency, Congenital	Recurrent respiratory infections, Neonatal respiratory distress, Depressed nasal bridge, Antevert...	OMIM:610015
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Edema, Pulmonary emb...	ORPHA:90308
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Micrognathia, Flexion contracture, Gingival overgrowth, Narrow palate, 2-...	OMIM:618186
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Abnormality of the temporomandibular joint, Protruding tongue, Atelectasis, Flex...	ORPHA:258
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
Chondrodysplasia, Blomstrand Type	Depressed nasal bridge, Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones...	OMIM:215045
Metaphyseal Acroscyphodysplasia	Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Sev...	ORPHA:1240
Radio-Renal Syndrome	Respiratory distress, Severe short stature, Depressed nasal bridge, Micromelia, Micrognathia, Hig...	ORPHA:3015
Idiopathic Chronic Eosinophilic Pneumonia	Abnormal pulmonary thoracic imaging finding, Crackles, Dyspnea, Nonproductive cough, Wheezing, As...	ORPHA:2902
Blount Disease	Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowing	ORPHA:2768
Hypophosphatasia	Recurrent fractures, Hypercalcemia, Craniosynostosis	ORPHA:436
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Micrognathia, Multiple prenatal fractures, Flexion contracture, Decreased skull ossif...	OMIM:616897
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping, Depressed nasal ridge, Metaphys...	OMIM:300863
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Achondroplasia	Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat...	ORPHA:15
Hypocalciuric Hypercalcemia, Familial, Type I	Parathyroid adenoma, Hyperparathyroidism, Hypermagnesemia, Hypercalcemia	OMIM:145980
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e...	OMIM:267450
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Osteopenia, Recurrent respiratory infections, Osteomyelitis, Recurrent...	ORPHA:2314
Metatropic Dysplasia	Severe short stature, Depressed nasal bridge, Camptodactyly of finger, Micromelia, Abnormal encho...	ORPHA:2635
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1248
Vitamin K Antagonist Embryofetopathy	Brachydactyly, Anteverted nares, Choanal atresia, Depressed nasal bridge, Myelomeningocele, Respi...	ORPHA:1914
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ...	OMIM:228520
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ...	OMIM:610913
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Depressed nasal bridge, Broad na...	OMIM:619736
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Short metacarpal, Brachydactyly, Depressed nasal bridge, Sandal gap, Postax...	OMIM:617102
Sandestig-Stefanova Syndrome	Prominent metopic ridge, Rocker bottom foot, Wide nasal bridge, Orofacial cleft, Respiratory fail...	OMIM:618804
Developmental And Epileptic Encephalopathy 100	Recurrent respiratory infections, Tented upper lip vermilion, Depressed nasal bridge, Broad nasal...	OMIM:619777
Acrocephalopolydactyly	Genu recurvatum, Depressed nasal ridge, Short long bone, Limb undergrowth, Short nose, Brachydactyly	ORPHA:221054
Ceroid Lipofuscinosis, Neuronal, 10	Apnea, Split hand, Wide nasal bridge, Respiratory insufficiency, Respiratory failure, Neonatal death	OMIM:610127
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Cleft pal...	OMIM:269250
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Femoral retroversion, Micrognathia, Knee flexion contractur...	OMIM:616531
Acrodysostosis	Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Depressed nasal ridge, Short metata...	ORPHA:950
Diastrophic Dysplasia	Hip contracture, Costal cartilage calcification, Cleft palate, Genu valgum, Ulnar deviation of fi...	OMIM:222600
C1Q Deficiency 2	Atelectasis, Bronchiectasis, Oral ulcer, Arthritis, Recurrent lower respiratory tract infections	OMIM:620321
Non-Distal Duplication 10Q	Depressed nasal bridge, Short stature, Micrognathia, Joint hyperflexibility, High palate, Everted...	ORPHA:1695
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding, Venous malformation	OMIM:600195
Gm1-Gangliosidosis, Type Ii	Protruding tongue, Coxa valga, Joint stiffness, Gingival overgrowth, Hypoplastic vertebral bodies...	OMIM:230600
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital...	ORPHA:93308
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Recurrent fractures, Primary hyperparathyroidism, Elevated circulating...	OMIM:239200
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent...	ORPHA:1350
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abn...	ORPHA:1427
Familial Nasal Acilia	Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Knee dislocation, High palate, Amelogenesis imperfecta, Micr...	OMIM:618363
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Depressed nasal bridge, Anteverted nares, Malar flatteni...	OMIM:614613
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Mandibular prognathia, Brachydactyly, Toe syndactyly, Anteverted nares, Camptodact...	ORPHA:1327
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Joint laxity, Death in infancy, Sandal gap, Micrognathia, Pyloric stenosis, Rectal pr...	OMIM:613177
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Micromelia, Hypo...	OMIM:617895
Microcephaly-Micromelia Syndrome	Wide nose, Craniosynostosis, Absent thumb, Absent radius, Micromelia, Short tibia, Humeroradial s...	OMIM:251230
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Pseudohypoparathyro...	OMIM:612462
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Camptodactyly of finger, Dep...	ORPHA:1529
Meckel Syndrome, Type 7	Portal hypertension, Pancreatic cysts, Situs inversus totalis, Patent ductus arteriosus, Biliary ...	OMIM:267010
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Anteverted nares, Short stature, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morpho...	ORPHA:1355
Microphthalmia, Syndromic 12	Intestinal malrotation, Micrognathia, Broad nasal tip, Wide nasal bridge, Cleft palate, Pulmonary...	OMIM:615524
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Short metatarsal,...	ORPHA:439822
Stuve-Wiedemann Syndrome 1	Enlarged joints, Apnea, Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Sm...	OMIM:601559
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft...	ORPHA:3104
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Broad metacarpals, Hypo...	ORPHA:56304
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen...	OMIM:301068
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia	OMIM:193100
Pierpont Syndrome	Smooth philtrum, Wide nose, Short stature, Broad nasal tip, Short toe, Broad philtrum, Prominent ...	OMIM:602342
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Abnorm...	ORPHA:3121
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypopl...	OMIM:108720
Weismann-Netter Syndrome	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h...	ORPHA:3344
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Short metacarpal...	OMIM:300106
Kniest Dysplasia	Respiratory distress, Enlarged joints, Delayed epiphyseal ossification, Coxa vara, Tibial bowing,...	OMIM:156550
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia	OMIM:612287
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Short stature, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossif...	OMIM:620269
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating osteocalcin level, Osteomalacia, Decreased circulating parathyroid hormone ...	ORPHA:157215
Terminal Osseous Dysplasia	Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm...	OMIM:300244
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Camptodactyly of finger, Flexion contracture, Wide mouth, Growth delay, Respira...	ORPHA:1194
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Short stature, Glenoid fossa hypoplasia, Hip d...	ORPHA:85170
Bone Dysplasia, Lethal Holmgren Type	Joint dislocation, Metaphyseal dysplasia, Recurrent respiratory infections, Anteverted nares, Rhi...	ORPHA:1842
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Depressed nasal ridge, Knee flexion contracture, Ab...	OMIM:271665
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Short stature, Abnormal limb bone morphology, Aplasia/Hypoplasia ...	ORPHA:2204
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc...	OMIM:602080
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Short stature, Tarsal syno...	OMIM:112910
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor...	ORPHA:1263
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Congenital hip dislocation, Femur fracture, Ulnar deviation of the hand, Multiple ...	OMIM:618291
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Respiratory insufficiency, Stillbirth, Short ribs, Absent or minima...	OMIM:600972
Verheij Syndrome	Branchial cyst, Vertebral fusion, Thin upper lip vermilion, Joint laxity, Anteverted nares, Short...	OMIM:615583
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Kaposi Sarcoma	Generalized lymphadenopathy, Lymphoproliferative disorder, Abnormal retinal morphology, Lymphedem...	ORPHA:33276
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ri...	ORPHA:2831
Congenital Sialidosis Type 2	Protruding tongue, Respiratory tract infection, Gingival overgrowth, Polydactyly, Umbilical hernia	ORPHA:93400
Farber Disease	Respiratory distress, Abnormality of the knee, Short stature, Nodular pattern on pulmonary HRCT, ...	ORPHA:333
Joubert Syndrome 1	Central apnea, Anteverted nares, Episodic tachypnea, Protruding tongue, Postaxial hand polydactyl...	OMIM:213300
Whistling Face Syndrome, Recessive Form	Prominent nasal bridge, Shoulder flexion contracture, Underdeveloped nasal alae, Micrognathia, Wh...	OMIM:277720
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira...	ORPHA:70587
Bronchogenic Cyst	Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog...	ORPHA:2357
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Abnormal joint morphology, Osteoarthritis, Abnormal carpal morpholo...	ORPHA:93351
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p...	OMIM:200700
Clark-Baraitser Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Sand...	OMIM:617752
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia, Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Hypophosphatemia	OMIM:600740
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Abnormal carp...	ORPHA:85166
Ring Chromosome 8 Syndrome	Deviation of finger, Short nose, Anteverted nares, Abnormal palate morphology	ORPHA:1450
Degcags Syndrome	Osteopenia, Prominent nose, Micrognathia, High palate, Syndactyly, Anteverted nares, Hiatus herni...	OMIM:619488
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Dental malocclusion, Short columella, Short nose, Short distal phalanx of...	OMIM:155050
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Laron Syndrome	Severe short stature, Abnormal joint morphology, Short long bone, Limb undergrowth, Delayed menarche	OMIM:262500
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of j...	ORPHA:2741
Autosomal Dominant Omodysplasia	Short palm, Short humerus, Depressed nasal bridge, Rhizomelia, Micrognathia, Elbow dislocation, P...	ORPHA:93328
Hypocalciuric Hypercalcemia, Familial, Type Ii	Primary hyperparathyroidism, Hypermagnesemia, Hypercalcemia	OMIM:145981
Ruvalcaba Syndrome	Short metacarpal, Dental crowding, Short stature, Micromelia, Underdeveloped nasal alae, Short me...	OMIM:180870
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Adenylosuccinate Lyase Deficiency	Thin upper lip vermilion, Prominent metopic ridge, Anteverted nares, Long philtrum, Short nose, S...	ORPHA:46
Infantile Myofibromatosis	Limitation of joint mobility, Osteolysis, Hypercalcemia	ORPHA:2591
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of...	ORPHA:254361
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Enlarged joints, Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hyp...	OMIM:215150
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Short stature, Abnormality of the dentition, Limitation of joint mobility, Growth del...	ORPHA:177
Nemaline Myopathy 8	Death in infancy, Respiratory failure, Flexion contracture	OMIM:615348
Congenital Muscular Dystrophy With Intellectual Disability	Multiple joint contractures, Abnormality of the tongue muscle, Hip dislocation, Respiratory insuf...	ORPHA:370968
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Underdeveloped nasal alae, Micrognathia, Wide anterior fontanel, Met...	OMIM:263210
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Thin upper lip vermilion, Neonatal respiratory distress, Death in infancy, ...	OMIM:615042
Hypochondroplasia	Brachydactyly, Depressed nasal bridge, Aplasia/hypoplasia of the extremities, Flared metaphysis, ...	OMIM:146000
Opsismodysplasia	Recurrent respiratory infections, Abnormally ossified vertebrae, Severe short stature, Depressed ...	ORPHA:2746
Diaphanospondylodysostosis	Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b...	OMIM:608022
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,...	ORPHA:457395
Greenberg Dysplasia	Micromelia, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Patchy variatio...	OMIM:215140
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Hypercalcemia, Pituitary ...	ORPHA:199299
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Osteopenia, Hip contracture, Hypercalcemia, Knee flexion contracture, Hypopho...	OMIM:156400
Multiple Endocrine Neoplasia, Type I	Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, ...	OMIM:131100
Brachyolmia Type 1, Hobaek Type	Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short...	OMIM:271530
Pycnodysostosis	Obtuse angle of mandible, Persistent open anterior fontanelle, Prominent nose, Micrognathia, Hypo...	ORPHA:763
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Micrognathia, Joint stiffness, Long fingers, Respiratory insuf...	ORPHA:1895
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Anteverted nares, Broad hallux, Protruding tongue, Micrognathia, Wide n...	OMIM:617062
Chung-Jansen Syndrome	Anteverted nares, Tapered finger, Micrognathia, Hip dysplasia, Thin vermilion border, High palate...	OMIM:617991
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Short palm, Bowing of the long bones, Toe syndactyly, Anteverted nares, Depressed nasal bridge, C...	ORPHA:171839
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu...	ORPHA:90117
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Postnatal growth retardation, Metaphyseal widening, Coxa vara, Femo...	OMIM:608940
Fibular Aplasia-Complex Brachydactyly Syndrome	Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Short stature, Tarsal syno...	ORPHA:2639
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Short stature, Spontaneous neonatal pneumothorax, Delayed closure of th...	OMIM:225410
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Wide nose, Short nose, Long philtrum	OMIM:125700
Hall-Riggs Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Short stature, Pr...	ORPHA:2107
Thanatophoric Dysplasia	Depressed nasal bridge, Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Respir...	ORPHA:2655
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f...	OMIM:600803
Kleefstra Syndrome Due To 9Q34 Microdeletion	Anteverted nares, Protruding tongue, Downturned corners of mouth, Macroglossia, Growth delay, Eve...	ORPHA:96147
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Joint laxity, Anteverted nares, Depressed nasal bridge, Exaggerated cupid's bow, Overla...	ORPHA:254528
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia...	OMIM:616300
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Jeune Syndrome	Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, Respiratory insufficiency,...	ORPHA:474
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Hypercalcemia, Paraganglioma	ORPHA:94080
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Anteverted nares, Narrow nasal ridge, Bulbous nose, 2-3 toe syndactyly, Cutane...	OMIM:236500
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Flar...	ORPHA:93346
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Multiple Mitochondrial Dysfunctions Syndrome 3	Respiratory insufficiency, Respiratory failure, High palate, Intrauterine growth retardation, Ret...	OMIM:615330
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contracture, Short...	OMIM:611717
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia	OMIM:612286
Scedosporiosis	Bronchial breath sound, Sinusitis, Arthralgia/arthritis, Osteomyelitis, Pneumonia, Bronchitis, Ab...	ORPHA:449280
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi...	OMIM:105830
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Deep ...	ORPHA:96334
Microphthalmia With Limb Anomalies	Deep philtrum, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Hig...	OMIM:206920
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Enlargement of the ankles, Bulging epiphyses, Thin bony cortex, Recurr...	OMIM:277440
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Wide mouth, Widely spaced teeth, Mandibular prognathia, Protruding tongue	ORPHA:98795
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Growth delay, Respira...	OMIM:245400
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Underdeveloped nasal alae, Wide nasal bridge, Downturned corners...	OMIM:601224
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing...	OMIM:250220
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Enlarged joints, Short stature, Bowing of the legs, Disproportionate short-limb short stature, Li...	ORPHA:156728
Chromosome 6Q11-Q14 Deletion Syndrome	Joint laxity, Thin upper lip vermilion, Short stature, Prominent nasal bridge, Broad nasal tip, M...	OMIM:613544
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Joint dislocation, Short stature, Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of ...	ORPHA:3201
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Limitation of movement at ankles, Mandibular prognathia, Protruding tongue, Wide mouth, Widely sp...	ORPHA:98794
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Congenital contracture, Respiratory failure	OMIM:225753
Dysostosis, Stanescu Type	Persistent open anterior fontanelle, Micromelia, Hypoplasia of the maxilla, Increased bone minera...	ORPHA:1798
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi...	OMIM:179800
14Q24.1Q24.3 Microdeletion Syndrome	Joint laxity, Limited elbow extension and supination, Thin upper lip vermilion, Brachydactyly, Pr...	ORPHA:401935
Arthrogryposis, Distal, Type 2A	Joint dislocation, Mandibular prognathia, Dental crowding, Knee flexion contracture, High palate,...	OMIM:193700
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia, Reduced bone mineral density	ORPHA:172
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Recurrent respiratory infections, Short stature, Postaxial hand polydactyly, L...	ORPHA:1389
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Osteoarthritis, Abnormality of th...	ORPHA:429
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi...	OMIM:608647
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Arthrogryposis Multiplex Congenita 6	Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Arthrogryposis multipl...	OMIM:619334
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Anteverted nares, Exaggerated cupid's bow, Rocker bottom foot, Wide mouth, Delayed eruption of pe...	OMIM:618506
Osteoglophonic Dysplasia	Mandibular prognathia, Osteopenia, Respiratory distress, Hypoplasia of the maxilla, Short metatar...	OMIM:166250
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Depressed nasal bridge, Wi...	OMIM:616482
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific...	ORPHA:1426
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Depressed nasal bridge, Ant...	OMIM:616331
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Thin upper lip vermilion, Micrognathia, Postnatal growth retardation, Wide mouth, J...	OMIM:615419
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Angelman Syndrome Due To A Point Mutation	Wide mouth, Widely spaced teeth, Mandibular prognathia, Protruding tongue	ORPHA:411511
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Depressed nasal bridge, ...	ORPHA:1458
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Increased susceptibility to fract...	OMIM:241500
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Micrognathia, Short thumb, Hypoplasia of th...	OMIM:227270
Mulibrey Nanism	Wide nose, Depressed nasal bridge, Dental crowding, Short stature, Thickened cortex of long bones...	OMIM:253250
Autoimmune Hypoparathyroidism	Increased bone mineral density, Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, H...	ORPHA:36913
Fatty Acyl-Coa Reductase 1 Deficiency	Thin upper lip vermilion, Depressed nasal bridge, Short stature, Growth delay, Long philtrum, Sho...	ORPHA:438178
Thoracomelic Dysplasia	Elbow dislocation, Abnormal fibula morphology, Genu valgum, Joint hyperflexibility, Abnormal pelv...	ORPHA:1803
Proteus Syndrome	Splenomegaly, Limbal dermoid, Multiple lipomas, Lipoma, Lymphangioma, Hemangioma, Venous malforma...	OMIM:176920
Down Syndrome	Short palm, Joint laxity, Aganglionic megacolon, Sandal gap, Short stature, Protruding tongue, Pu...	OMIM:190685
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Joint hyperflexibility, Abnormal epiphys...	ORPHA:90653
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Short Stature, Dauber-Argente Type	Long toe, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth retardation...	OMIM:619489
Pneumocystosis	Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough...	ORPHA:723
Orofaciodigital Syndrome Type 4	Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate...	ORPHA:2753
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Prominent nose, Long nose, Micrognathia, Abnormal finger morphology, Shor...	ORPHA:2636
Mitochondrial Complex I Deficiency, Nuclear Type 18	Wide anterior fontanel, Respiratory failure, Death in infancy	OMIM:618240
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Anteverted nares, Overlapping toe, Short ...	ORPHA:3309
Desbuquois Dysplasia 2	Dental crowding, Metaphyseal widening, Knee dislocation, Short phalanx of finger, Bifid uvula, Ge...	OMIM:615777
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ulnar deviation of the wrist, Anteverted nares, Micrognathia, Clinodactyly, Unilambdoid synostosi...	OMIM:618577
Kyphomelic Dysplasia	Bowing of the long bones, Micromelia, Missing ribs, Micrognathia, Joint stiffness, Limitation of ...	ORPHA:1801
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Robinow Syndrome, Autosomal Recessive 2	Anteverted nares, Cleft soft palate, Broad hallux, Broad nasal tip, Abnormality of the dentition,...	OMIM:618529
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly	OMIM:611263
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o...	ORPHA:93323
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Thin upper lip vermilion, Crackles, Ground-glass opacification, Dyspnea, Asthma, Wheezing, Atelec...	OMIM:620233
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, D...	ORPHA:534
Brachytelephalangic Chondrodysplasia Punctata	Hypoplasia of the maxilla, Tachypnea, Depressed nasal ridge, Thick nasal alae, Hypoplastic cervic...	ORPHA:79345
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Clinodactyly, Short palm, Duplication ...	OMIM:268310
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Hyperextensibility of the finger joints, Neonatal respiratory distress, Recurre...	OMIM:618356
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Multiple prenatal fractures, Flexion contracture, Respiratory fail...	OMIM:616867
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Thin upper lip vermilion, Osteopenia, Anteverted nares, Dental crowding, Sandal...	OMIM:617877
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Glycine Encephalopathy With Normal Serum Glycine	Joint laxity, Hip contracture, Anteverted nares, Genu recurvatum, Depressed nasal bridge, Overlap...	OMIM:617301
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu...	OMIM:263000
Pheochromocytoma--Islet Cell Tumor Syndrome	Pheochromocytoma, Hypercalcemia	OMIM:171420
Dermatosparaxis Ehlers-Danlos Syndrome	Joint dislocation, Osteopenia, Severe short stature, Depressed nasal bridge, Osteomalacia, Hiatus...	ORPHA:1901
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte...	OMIM:617201
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Micrognathia, Asthma, Tac...	ORPHA:2257
Fibrous Dysplasia Of Bone	Hyperthyroidism, Precocious puberty in females, Hypercalcemia, Elevated circulating growth hormon...	ORPHA:249
Peho-Like Syndrome	Short nose, Retrognathia, Open mouth, Tapered finger	OMIM:617507
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short tibia, Hypoplasia ...	ORPHA:1972
Auriculocondylar Syndrome 2A	Respiratory distress, Dental crowding, Apnea, Micrognathia, Microglossia, Dental malocclusion, Cl...	OMIM:614669
Fibrochondrogenesis 2	Anteverted nares, Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypop...	OMIM:614524
Ollier Disease	Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis...	ORPHA:296
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Micrognathia, Downturned corners of mouth, Oligodontia, Short philtrum, Joint laxity, Anteverted ...	ORPHA:391408
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Broad nasal tip, Clinodactyly, Recurrent upper respiratory tract infection...	ORPHA:391372
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal respiratory distress, Pulmonary arterial hypertension, Pulmonary hypoplasia, Neonatal de...	OMIM:619003
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Pneumonia, Absent frontal sinuses, Atelectasis, Anosmia, Bronchiectasis, Immotil...	OMIM:244400
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Rickets, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Distal Duplication 18Q	Anteverted nares, Prominent nasal bridge, Camptodactyly of finger, Choanal atresia, Abnormal dent...	ORPHA:1716
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Multiple pterygia, Cleft upper lip, Micrognathia, Flexion co...	OMIM:312150
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Short stature, Micrognathia, Cleft palate, Orofacial cleft...	ORPHA:1988
Pseudoachondroplasia	Genu recurvatum, Limited hip extension, Osteoarthritis, Delayed epiphyseal ossification, Metaphys...	OMIM:177170
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg...	ORPHA:90652
17P13.3 Microduplication Syndrome	Wide nose, Congenital hip dislocation, High palate, Narrow mouth, Clinodactyly of the 5th finger,...	ORPHA:217385
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Intrauterine growth re...	OMIM:620326
Rhiny	Short nose, Thin vermilion border, Anteverted nares	OMIM:180360
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Abnormality of the philtrum, Short stat...	ORPHA:1597
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Arachnodactyly, Micrognathia, High, narrow palate, Dyspnea, Wide mouth, Abn...	ORPHA:2707
Brachydactyly, Type B1	Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Aplasia/Hypoplasia of the...	OMIM:113000
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Weismann-Netter Syndrome	Severe short stature, Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibula...	OMIM:112350
Achondroplasia	Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora...	OMIM:100800
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ...	ORPHA:2141
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Malar flattening, Short nose, Retrognathia, Open mouth	OMIM:613670
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Joint dislocation, Microretrognathia, Joint laxity, Neonatal respiratory distress, Anteverted nar...	OMIM:618870
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Hyperparathyroidism, Hypercalcemia, Pituitary null cell adenoma...	ORPHA:913
Bilateral Perisylvian Polymicrogyria	Apnea, Choanal atresia, Micrognathia, Protruding tongue, Flexion contracture, Aspiration, Distal ...	ORPHA:98889
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Depressed nasal bridge, Anteverted nares, Sagittal cranios...	OMIM:145420
Atelosteogenesis Type I	Joint dislocation, Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossifica...	ORPHA:1190
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os...	ORPHA:93357
Familial Isolated Hypoparathyroidism	Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypo...	ORPHA:2238
C Syndrome	Micromelia, Micrognathia, High palate, Thick anterior alveolar ridges, Dislocated radial head, Sh...	OMIM:211750
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Micrognathia, Widely-spaced maxillary central incisors, High palate, ...	OMIM:309580
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Respiratory in...	OMIM:187601
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis, Death in infancy, Epiphyseal stippling	OMIM:614876
Tonne-Kalscheuer Syndrome	Short stature, Prominent nasal bridge, Prominent nose, Micrognathia, Velopharyngeal insufficiency...	OMIM:300978
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Genu v...	OMIM:271510
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Multiple prenatal fractures, Absent o...	OMIM:166210
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Autosomal Recessive Kenny-Caffey Syndrome	Decreased skull ossification, Hypocalcemia, Hypocalcemic tetany, Congenital hypoparathyroidism, C...	ORPHA:93324
Pseudohypoparathyroidism, Type Ia	Osteoporosis, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormo...	OMIM:103580
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S...	OMIM:608728
Thoracic Dysplasia-Hydrocephalus Syndrome	Short stature, Depressed nasal ridge, Respiratory failure, Limb undergrowth, Abnormal metaphysis ...	ORPHA:1861
Ohdo Syndrome	Joint laxity, Depressed nasal bridge, Anteverted nares, Short stature, Micrognathia, Wide nasal b...	OMIM:249620
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Oligodontia, Aplasia of the distal phalanx of the 5th finger, Promine...	ORPHA:364577
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Short stature, Hip dislocation, Wide nasal bridge, Joint contracture, High palate, Li...	OMIM:618005
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Mild postnatal growth retardation, Proximal femo...	ORPHA:168549
Spondyloepiphyseal Dysplasia Tarda	Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e...	ORPHA:93284
Fetal Akinesia Deformation Sequence	Intestinal hypoplasia, Multiple joint contractures, Depressed nasal bridge, Camptodactyly of fing...	ORPHA:994
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Short philtrum, Foot oligodactyly, Synostosis of carpal bones, H...	ORPHA:3258
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Hypoplasia of the radius, Mesomelic short stature, Short f...	OMIM:249700
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Short nose, Flexion contracture, Hip dysplasia	OMIM:618379
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Respiratory failure, Flexion contracture, Recur...	ORPHA:2590
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Depressed nasal bridge, Joint stiffness, Disproportionate short stature...	ORPHA:40
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Depressed nasal bridge, Short me...	OMIM:616723
Joubert Syndrome 18	Joint laxity, Occipital encephalocele, Trident pelvis, Bowing of the long bones, Postaxial polyda...	OMIM:614815
Ear-Patella-Short Stature Syndrome	Respiratory distress, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly ...	ORPHA:2554
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol...	ORPHA:3429
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion	Abnormal circulating calcium concentration, Abnormality of the parathyroid gland, Secondary hyper...	ORPHA:140286
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Clinodactyly, Orofacial cleft, Downturned ...	OMIM:180700
Burn-Mckeown Syndrome	Short stature, Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia, Short nose, ...	ORPHA:1200
Acrofacial Dysostosis, Catania Type	Smooth philtrum, Finger syndactyly, Microretrognathia, Short stature, Abnormality of the dentitio...	ORPHA:1786
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Depressed nasal bridge, Micromelia, Joint stiffness, Hypop...	ORPHA:1860
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Brachydactyly, Broad long bones, Depressed nasal bridge, Anteverted nares, Abnormal metatarsal mo...	ORPHA:163654
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli...	ORPHA:440354
Paternal Uniparental Disomy Of Chromosome 1	Recurrent fractures, Hypercalcemia, Craniosynostosis, Increased blood urea nitrogen, Delayed puberty	ORPHA:251004
Mietens Syndrome	Hypoplasia of the ulna, Wide nose, Severe short stature, Coxa valga, Elbow dislocation, Metatarsu...	ORPHA:2557
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Anteverted nares, Short stature, Carious teeth, Deep philtrum, Abnormality of the elbow, Thick lo...	ORPHA:2701
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, Micrognathia, Generalized joint laxity, Tibial bowing, High palate, ...	ORPHA:251028
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti...	OMIM:304120
Congenital Heart Defects And Skeletal Malformations Syndrome	Smooth philtrum, Anal atresia, Dental crowding, Intestinal malrotation, Arachnodactyly, Sandal ga...	OMIM:617602
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Immunodeficiency 54	Recurrent respiratory infections, Short stature, Postnatal growth retardation, Respiratory insuff...	OMIM:609981
Beta-Mercaptolactate Cysteine Disulfiduria	Anteverted nares, Arachnodactyly, Sandal gap, Micromelia, Short stature, Genu valgum, Joint hyper...	ORPHA:1035
Pfeiffer Syndrome	Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Osteoarthritis, En...	OMIM:307800
Vacterl Association With Hydrocephalus	Absent thumb, Radial club hand, Respiratory insufficiency, Respiratory failure, Stillbirth, Anal ...	OMIM:276950
Gjc2-Related Late-Onset Primary Lymphedema	Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Venous insuffic...	ORPHA:568051
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Micromelia, Bowing of the legs, Micrognathia, Deep philtrum, Metaphys...	OMIM:255800
Oculoskeletodental Syndrome	Elbow flexion contracture, Hypercalcemia, Hypothyroidism, Hypocalcemia	OMIM:618440
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Short stature, Underdevelope...	OMIM:615866
Short Stature, Brussels Type	Microretrognathia, Short stature, Delayed epiphyseal ossification, Growth delay, Calcification of...	ORPHA:2867
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Enlargement of the ankles, Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:600081
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Split hand, Wide nasal bridge, Respiratory failure	ORPHA:168486
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Pulmonary...	ORPHA:36238
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Short stature, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, A...	ORPHA:2928
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Finger syndactyly, Short stature, Micrognathia, Short nose, Spina bifida occ...	ORPHA:1514
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Elevated circulating parathyroid hormone ...	OMIM:613388
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Abnorma...	ORPHA:2019
Calciphylaxis	Ectopic ossification, Hyperphosphatemia, Secondary hyperparathyroidism	ORPHA:280062
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Anteverted nares, Pneumonia, Recurrent upper respiratory tract infections...	OMIM:614069
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, M...	ORPHA:3035
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Addison Disease	Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Hypercalcemia, Adrenal ca...	ORPHA:85138
Spinocerebellar Ataxia-Dysmorphism Syndrome	Anteverted nares, Genu recurvatum, Short stature, Reduced bone mineral density, Downturned corner...	ORPHA:1185
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Juvenile Sialidosis Type 2	Umbilical hernia, Gingival overgrowth, Protruding tongue	ORPHA:93399
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Micromelia, Joint stiffness, ...	ORPHA:2249
Lowry-Maclean Syndrome	Osteopenia, Choanal atresia, Craniosynostosis, Delayed eruption of primary teeth, Micrognathia, H...	ORPHA:2409
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia, Protruding tongue	ORPHA:53351
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo...	OMIM:115197
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Deep p...	OMIM:619143
3M Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Congenital hip dislocation, Anteverted nares, ...	ORPHA:2616
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus...	ORPHA:210110
Idiopathic Pulmonary Hemosiderosis	Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Ground-glass o...	ORPHA:99931
2P21 Microdeletion Syndrome	Hypogonadism, Hypocalcemia	ORPHA:163693
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Enlargement of the ankles, Bulging epiphyses, Thin bony cortex, Recurr...	OMIM:264700
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Pyruvate Dehydrogenase E1-Alpha Deficiency	Anteverted nares, Flared nostrils, Wide nasal bridge, Apneic episodes precipitated by illness, fa...	OMIM:312170
Ulbright-Hodes Syndrome	Respiratory distress, Micrognathia, High palate, Phocomelia, Short metacarpal, Depressed nasal br...	ORPHA:3404
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Tapered finger, High, narrow palate, Bulbous nose, 2-3 toe syndactyly, Wide mouth,...	ORPHA:485405
Intermediate Nemaline Myopathy	Multiple prenatal fractures, High, narrow palate, Flexion contracture, Respiratory failure, Long ...	ORPHA:171433
Capillary Malformation-Arteriovenous Malformation	Peripheral arteriovenous fistula, Nonimmune hydrops fetalis, Cerebral arteriovenous malformation,...	ORPHA:137667
Acute Adrenal Insufficiency	Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Adrenal hypoplasia, Hyperkalem...	ORPHA:95409
Smith-Kingsmore Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Rhizomelia, Short proximal phalanx of finger, W...	OMIM:616638
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Dental crowding, Narrow nasal ridge, Micrognathia, Premature loss of te...	OMIM:608612
Orofaciodigital Syndrome Type 2	Apnea, Micrognathia, Tachypnea, Finger clinodactyly, High palate, Short tibia, Finger syndactyly,...	ORPHA:2751
Pseudohypoparathyroidism Type 1B	Calcinosis, Increased bone mineral density, Decreased response to growth hormone stimulation test...	ORPHA:94089
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Fused teeth, High palate, Microdontia, Syndactyly, Short stat...	OMIM:614091
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short distal phalanx of toe, Anteverted nares, Micrognathia, Bilateral triphalangeal thumbs, Dela...	OMIM:619356
Caroli Syndrome	Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,...	ORPHA:480520
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hand clenching, Apnea, Protruding tongue	OMIM:619580
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventric...	ORPHA:75249
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Hypoplasia of the maxilla, Long fingers, Respiratory tract infection, Flexion con...	OMIM:218000
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, 2-3 toe syndactyly, Downturne...	OMIM:613443
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Depressed nasal bridge, Polydactyly, Intrauterine growth retardation, Short nose, Hypoplastic ischia	OMIM:616910
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Postnatal growth retardation, Acromicria, Small hand, Short foot, Intrauterine growth retardation...	ORPHA:254525
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Osteoarthritis, Cleft palate, Glossoptosis, Abnormal metacarpal morphology, Malar f...	ORPHA:166100
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, Short p...	ORPHA:2429
Hypophosphatasia, Adult	Arthropathy, Premature loss of permanent teeth, Osteomalacia, Premature loss of primary teeth, Re...	OMIM:146300
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Apnea, Pulmonary hypoplasia	OMIM:615228
Astley-Kendall Dysplasia	Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia	ORPHA:85175
Lethal Congenital Contracture Syndrome Type 1	Short stature, Recurrent fractures, Micrognathia, Abnormality of the elbow, Limitation of joint m...	ORPHA:1486
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Congenital hip dislocation, Anteverted nares, Short stature, Limited elbow moveme...	OMIM:615065
Perlman Syndrome	Anteverted nares, Micrognathia, High, narrow palate, Open mouth, Wide nasal bridge, Abnormal uppe...	ORPHA:2849
Image Syndrome	Intrauterine growth retardation, Depressed nasal bridge, Metaphyseal dysplasia, Micromelia	ORPHA:85173
Marden-Walker Syndrome	Anteverted nares, Arachnodactyly, Micrognathia, Postnatal growth retardation, Wide anterior fonta...	OMIM:248700
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Multiple pterygia, Micrognathia, Flexion contracture, Depres...	OMIM:253290
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Dental crowding, Prominent nasal bridge, Joint hypermobility, Joint stiffness, ...	OMIM:619184
Mitochondrial Myopathy And Sideroblastic Anemia	Micrognathia, High palate, Delayed puberty, Short nose, Long philtrum	ORPHA:2598
Opsismodysplasia	Short palm, Recurrent respiratory infections, Short metacarpal, Depressed nasal bridge, Anteverte...	OMIM:258480
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Thin upper lip vermilion, Recurrent respiratory infections, Depressed nasal bridge, Ant...	OMIM:618316
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Syndactyly, Neonatal respiratory distress, Depressed nasal bridge, Antevert...	OMIM:217980
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Anteverted nares, Genu recurvatum, Broad nasal ti...	OMIM:300602
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Micr...	OMIM:224400
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Wide mouth, Widely spaced teeth, Delayed menarche	ORPHA:72
Muscular Dystrophy, Congenital, 1B	Achilles tendon contracture, Respiratory failure	OMIM:604801
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Eiken Syndrome	Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal trabecular ...	ORPHA:79106
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Li...	OMIM:601356
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea	OMIM:616277
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi...	ORPHA:1507
Hypocalcemic Vitamin D-Resistant Rickets	Joint dislocation, Coarse metaphyseal trabecularization, Short stature, Osteomalacia, Premature l...	ORPHA:93160
Congenital Gerbode Defect	Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho...	ORPHA:99095
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Camptodactyly of finger, Tachypnea, Respiratory failure, Talipes equinovarus, Intrauterine growth...	OMIM:604320
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Cleft upper lip, Absent thumb, Micrognathia, Hypoplasia of the radiu...	OMIM:602418
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Tarsal synostosis, Camptodactyly of finger, Abnormal morphology of ulna, Elbow...	ORPHA:2633
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Hypopl...	OMIM:187600
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Diastema, Postaxial polydactyly, Hypoplasia of the maxill...	OMIM:619142
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Syndactyly, Depressed nasal bridge, Short stature, Bulbous nose, Clinodact...	ORPHA:369891
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Mandibular prognathia, Short s...	ORPHA:1908
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Hyperventilation, Protruding tongue	OMIM:614325
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Joint laxity, Rhizomelia, Metaphyseal widening, Irregular epiphyses, Bronc...	OMIM:612813
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d...	ORPHA:968
Pallister-Hall Syndrome	Abnormal lung lobation, Anteriorly placed anus, Neonatal death, Distal shortening of limbs, Synda...	OMIM:146510
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr...	OMIM:132900
Pfeiffer Syndrome Type 2	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal br...	ORPHA:93259
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Respiratory distress, Recurrent respiratory infections, Tented upper lip ver...	OMIM:619383
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Patellar aplasia, Hypoplasia of...	OMIM:617604
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Disproportionate short sta...	ORPHA:93317
Miller-Dieker Syndrome	Anteverted nares, Growth delay, Abnormal upper lip morphology, Clinodactyly of the 5th finger, Sh...	ORPHA:531
Milroy Disease	Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Angiosarcoma, Varicose veins, Hydro...	ORPHA:79452
Neu-Laxova Syndrome	Osteopenia, Micromelia, Micrognathia, Flexion contracture, Depressed nasal ridge, Pterygium, Bifi...	ORPHA:2671
Intellectual Developmental Disorder, X-Linked 30	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Short stature, High palate, P...	OMIM:300558
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Nonpr...	ORPHA:454836
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o...	OMIM:616007
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Venous insufficiency, Visceral angiomatosis, Congestive heart failure, Ovarian neoplasm, Arteriov...	ORPHA:137608
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Short stature, Micromelia, Co...	ORPHA:63446
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ...	OMIM:241410
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue atrophy, Tongue fasciculations, Respiratory failure	OMIM:613435
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Short stature, Anosmia, Epiphyseal stippling, Short nose, Short nasal sep...	OMIM:302950
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Prominent metopic ridge, Tented upper lip vermilion, Antev...	ORPHA:314655
Hypophosphatemic Rickets, X-Linked Recessive	Enlargement of the ankles, Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures...	OMIM:300554
Spondyloepiphyseal Dysplasia, Kimberley Type	Proportionate short stature, Osteoarthritis, Abnormal epiphysis morphology, Micromelia	ORPHA:93283
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue...	ORPHA:958
Osteogenesis Imperfecta, Type X	Osteopenia, Respiratory distress, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowi...	OMIM:613848
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Tented upper lip vermilion, Anteverted nares, Tapered finger, Bulbous nose, Flexion contracture, ...	OMIM:616505
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Pulmonary...	ORPHA:86822
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Enlargement of the ankles, Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:241530
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Prominent nose, Micrognathia, Aplasia of the epiglottis, High palate...	OMIM:268305
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys...	ORPHA:1677
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing	OMIM:166740
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Hypoplasia of the maxilla, Short palm, Joint laxity, Syn...	OMIM:305400
Antley-Bixler Syndrome	Anteverted nares, Camptodactyly of finger, Craniosynostosis, Choanal atresia, Arachnodactyly, Rec...	ORPHA:83
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Osteoporosis, U...	ORPHA:94068
4Q21 Microdeletion Syndrome	Toe syndactyly, Depressed nasal bridge, Micromelia, Abnormality of the dentition, Small hand, Dow...	ORPHA:238750
Vipoma	Diabetes mellitus, Hypercalcemia, Follicular thyroid carcinoma, Elevated circulating growth hormo...	ORPHA:97282
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Severe short stature, Bowing of the legs, Metaphyseal widening, Delayed epiphyseal ...	ORPHA:93352
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Hypocalcemic seizures	ORPHA:405
Meckel Syndrome, Type 3	Hepatomegaly, Occipital encephalocele, Malformation of the hepatic ductal plate, Bile duct prolif...	OMIM:607361
Cutis Laxa, Autosomal Recessive, Type Iia	Congenital hip dislocation, Anteverted nares, Carious teeth, Wide anterior fontanel, High palate,...	OMIM:219200
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Intrauterine growth retardation, Short thumb	OMIM:609054
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru...	OMIM:137550
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Dispro...	OMIM:609616
Developmental And Epileptic Encephalopathy 31B	Gingival overgrowth, Protruding tongue	OMIM:620352
Chromosome 19Q13.11 Deletion Syndrome, Distal	Anteverted nares, Overlapping toe, Short stature, Underdeveloped nasal alae, Carious teeth, Micro...	OMIM:613026
Cataract-Intellectual Disability-Hypogonadism Syndrome	Depressed nasal bridge, Abnormal distal phalanx morphology of finger, Short stature, Micrognathia...	ORPHA:1387
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, Short stature, Coxa ...	OMIM:619833
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in...	ORPHA:60025
22Q11.2 Deletion Syndrome	Micrognathia, Abnormal lung lobation, Short philtrum, Arachnodactyly, Abnormal dental enamel morp...	ORPHA:567
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Edema, Polyhydramnios, Secundum atrial septal defect, Primum atria...	OMIM:619534
Chand Syndrome	Short fifth metatarsal, Depressed nasal bridge, Atelectasis, Cleft palate, Agenesis of permanent ...	ORPHA:1401
Spondylodysplastic Ehlers-Danlos Syndrome	Joint dislocation, Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contrac...	ORPHA:536471
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ...	ORPHA:261211
Phocomelia, Schinzel Type	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Foot oligodactyly, Radi...	ORPHA:2879
Mesomelic Dysplasia, Kantaputra Type	Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal f...	ORPHA:1836
Gomez-Lopez-Hernandez Syndrome	Anteverted nares, Short stature, Craniosynostosis, Wide anterior fontanel, Thin vermilion border,...	OMIM:601853
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Short stature, Prominent nasal bridge, Tarsal...	ORPHA:1307
Osteogenesis Imperfecta, Type Vii	Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Death in infa...	OMIM:610682
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia, Anteverted nares, Upper limb undergrowth	OMIM:613124
Fetal Valproate Spectrum Disorder	Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Short no...	ORPHA:1906
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Vertebr...	OMIM:139210
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Syndactyly, Toe syndactyly, Anteverted nares, Intestinal malrotation, Pulmonary hypoplasia, Clino...	OMIM:601163
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest...	ORPHA:30391
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Right atrial enlargement, Reduced left ventr...	OMIM:612422
Fibrochondrogenesis	Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Micromel...	ORPHA:2021
Bartsocas-Papas Syndrome	Finger syndactyly, Median cleft lip, Toe syndactyly, Underdeveloped nasal alae, Aplasia/Hypoplasi...	ORPHA:1234
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft p...	OMIM:615716
Bainbridge-Ropers Syndrome	Dental crowding, Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finge...	OMIM:615485
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Short stature, Osteom...	ORPHA:289157
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Wide nose, Short palm, Apnea, Prominent nasal bridge,...	ORPHA:85201
Omodysplasia 1	Micrognathia, Limited elbow flexion, Short tibia, Depressed nasal bridge, Increased fibular diame...	OMIM:258315
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Joint laxity, Persistent open anterior fontanelle, Dental crowding, Arachnodactyly, Adducted thum...	OMIM:615539
Facial Paresis, Hereditary Congenital, 3	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Open mouth, D...	OMIM:614744
Gaucher Disease, Perinatal Lethal	Respiratory distress, Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Apne...	OMIM:608013
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone...	ORPHA:89936
Lethal Congenital Contracture Syndrome 10	Overlapping fingers, Stiff neck, Micrognathia, Narrow palate, Femoral bowing, Macroglossia, Short...	OMIM:617022
Thanatophoric Dysplasia Type 2	Encephalocele, Depressed nasal bridge, Short stature, Micromelia, Limitation of joint mobility, R...	ORPHA:93274
Cystinosis	Nephrogenic diabetes insipidus, Rickets, Hypophosphatemia, Hypokalemia, Delayed puberty, Type I d...	ORPHA:213
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Micrognathia, Glossoptosis, High palate, Anteverted nares, Rhizomelia, Short stature,...	OMIM:611209
Meige Disease	Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Lymphedema, Peri...	ORPHA:90186
Acute Lung Injury	Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon...	ORPHA:178320
Orofaciodigital Syndrome Xix	Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Broad ...	OMIM:620107
Oculodentodigital Dysplasia	Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Broad columella, Finger synd...	ORPHA:2710
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Thin upper lip vermilion, Brachydactyly, Joint stiffness, Anosmia, Genu valgum, Hypoplasia of the...	ORPHA:1295
Dent Disease 2	Elevated circulating creatine kinase concentration, Hypophosphatemia	OMIM:300555
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Coxa vara, Thin ver...	OMIM:602557
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Short stature, Abnormal so...	ORPHA:884
Even-Plus Syndrome	Epiphyseal dysplasia, Severe short stature, Bifid nasal tip, Depressed nasal ridge, Dysplasia of ...	OMIM:616854
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Achilles tendon contracture, Macroglossia, Restrictive venti...	OMIM:606612
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromoc...	ORPHA:276621
Kagami-Ogata Syndrome	Depressed nasal bridge, Anteverted nares, Coxa valga, Micrognathia, Long fingers, Hypoplasia of t...	OMIM:608149
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the knee, Metaphyseal dysplasia, Irregular iliac crest, Severe short stature, Clef...	ORPHA:93316
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Desmosterolosis	Increased bone mineral density, Severe short stature, Depressed nasal bridge, Intestinal malrotat...	ORPHA:35107
Keutel Syndrome	Recurrent respiratory infections, Wide nose, Depressed nasal bridge, Short stature, Underdevelope...	ORPHA:85202
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Respiratory insuffic...	ORPHA:70
20Q11.2 Microduplication Syndrome	Prominent metopic ridge, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Te...	ORPHA:363659
Marshall-Smith Syndrome	Irregular dentition, Large sternal ossification centers, Apnea, Distal widening of metacarpals, C...	OMIM:602535
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Rhizomelia, Craniosynostosis, Micrognathia, Short stature, Bulbous nose, ...	OMIM:614114
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Micrognathia, Absent middle phalanx of 3rd fin...	OMIM:308050
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Rocker bottom foot, Micrognathia, Calcaneovalgus deformity, Recurrent...	ORPHA:3078
Baller-Gerold Syndrome	Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Short stature, Pr...	ORPHA:1225
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Microretrognathia, Bowing of the long bones, Osteopenia, Rhizomelia, Recurrent...	OMIM:616229
Baker-Gordon Syndrome	Joint laxity, Thin upper lip vermilion, Prominent nasal tip, Short nose, Smooth philtrum	OMIM:618218
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia	OMIM:618913
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micrognathia, Preaxial polydactyly, Absent nasal bridge, Narrow greater sciatic notch, Neonatal d...	OMIM:617925
Refractory Celiac Disease	Hypomagnesemia, Osteoporosis, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Choanal atresia, Depressed nasal bridge, Missing ribs, Short stature, Esophagea...	OMIM:619859
Arterial Tortuosity Syndrome	Respiratory distress, Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Hiatus hernia, P...	ORPHA:3342
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Bile duct proliferation, Atri...	OMIM:611134
Robinow Syndrome, Autosomal Dominant 3	Micrognathia, Anteriorly placed anus, Downturned corners of mouth, Pulmonary artery atresia, Shor...	OMIM:616894
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares...	OMIM:612394
Orofaciodigital Syndrome Type 10	Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ...	ORPHA:2756
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Syndactyly, Brachydactyly, Anteverted nares, Intestinal malrotation, Sh...	OMIM:614701
Phace Syndrome	Cataract, Optic nerve hypoplasia, Cerebral arteriovenous malformation, Sclerocornea, Visceral ang...	ORPHA:42775
Cirrhotic Cardiomyopathy	Cardiomegaly, Global systolic dysfunction, Hepatomegaly, Elevated pulmonary artery pressure, Asci...	ORPHA:57777
Pfeiffer Syndrome Type 1	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,...	ORPHA:93258
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Prominent nasal bridge, Camptodactyly of finger, Underdeveloped nasal alae, Micrognathia, Growth ...	ORPHA:2083
Spondylometaphyseal Dysplasia, A4 Type	Severe short stature, Micromelia, Limitation of joint mobility, Coxa vara, Short palm	ORPHA:168555
Meier-Gorlin Syndrome 6	Microretrognathia, Recurrent respiratory infections, Severe short stature, Anteverted nares, Depr...	OMIM:616835
Acromesomelic Dysplasia 1	Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Limited elbow extensi...	OMIM:602875
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Primary hyperparathyroidism, Osteoporosis, Abnormal parathyroid morphology, Elevat...	ORPHA:99880
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S...	OMIM:126320
Ppoma	Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality of the thyroid glan...	ORPHA:97278
Marshall Syndrome	Anteverted nares, Depressed nasal bridge, Short stature, Abnormality of the dentition, Micrognath...	ORPHA:560
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Radial head s...	ORPHA:2634
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Congenital hip dislocation, Anteverted nares, Short stature, Delayed closure of the anterior font...	ORPHA:357074
3C Syndrome	Finger syndactyly, Death in infancy, Recurrent respiratory infections, Depressed nasal bridge, In...	ORPHA:7
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of...	OMIM:200610
Acrofrontofacionasal Dysostosis	Brachydactyly, Short stature, Camptodactyly of finger, Micromelia, Broad nasal tip, Non-midline c...	ORPHA:1784
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Mandibular prognathia, Respiratory distress, Death in infancy, Knee contracture, Respiratory fail...	OMIM:620278
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,...	OMIM:606519
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Long nose, Narrow greater sciatic notch, Short phalanx of f...	ORPHA:508533
Proteus-Like Syndrome	Retinal detachment, Thymus hyperplasia, Cataract, Venous insufficiency, Splenomegaly, Abnormality...	ORPHA:2969
Fetal Alcohol Syndrome	Thin upper lip vermilion, Anteverted nares, Short stature, Micrognathia, Joint stiffness, Non-mid...	ORPHA:1915
Non-Distal Duplication 13Q	Arachnodactyly, Abnormality of the dentition, Micrognathia, Postaxial hand polydactyly, Thin verm...	ORPHA:1702
Meckel Syndrome, Type 1	Accessory spleen, Occipital encephalocele, Malformation of the hepatic ductal plate, Asplenia, Sp...	OMIM:249000
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Short stature, Micrognathia, Cranial hyperostosis, Flared metaphy...	OMIM:259720
Stüve-Wiedemann Syndrome	Osteopenia, Respiratory distress, Apnea, Micromelia, Metaphyseal widening, Flexion contracture, K...	ORPHA:3206
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Reduced forced vital capacity, Achilles tendon contracture, Knee contracture, ...	OMIM:620249
Agnathia-Otocephaly Complex	Respiratory distress, Wide nose, Tracheomalacia, Micrognathia, Aglossia, Cleft palate, Pulmonary ...	OMIM:202650
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Temporomandibular joint ankylosis, Lateral humeral ...	OMIM:164900
Coxoauricular Syndrome	Short stature, Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral densi...	ORPHA:1508
Hypertrichosis Cubiti	Severe short stature, Rhizomelia, Prominent nasal bridge, Micromelia, Abnormality of the elbow, J...	ORPHA:2220
Linear Verrucous Nevus Syndrome	Reduced bone mineral density, Hypophosphatemia	ORPHA:2611
Somatostatinoma	Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality ...	ORPHA:97283
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Lymphedema, Splenomegaly, Jaundic...	ORPHA:1414
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromoc...	ORPHA:29072
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Recurrent respiratory infections, Micromelia, Underdeveloped nasal alae, Prominent nose, Dispropo...	ORPHA:2637
Parathyroid Carcinoma	Hypercalcemia, Primary hyperparathyroidism, Osteoporosis, Abnormal parathyroid morphology, Elevat...	ORPHA:143
Grant Syndrome	Down-sloping shoulders, Tibial bowing	OMIM:138930
Holzgreve Syndrome	Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Joi...	ORPHA:2167
Difference Of Sex Development-Intellectual Disability Syndrome	Genu valgum, Downturned corners of mouth, Reduced bone mineral density, Thin vermilion border, Sh...	ORPHA:2983
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperp...	ORPHA:731
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Hip contracture, Tented upper lip vermilion, Dental crowding, Shoulder flex...	OMIM:620369
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Lymphocytosis,...	OMIM:619991
Peroxisome Biogenesis Disorder 4A (Zellweger)	Epiphyseal stippling, Respiratory failure, Depressed nasal bridge, Death in infancy	OMIM:614862
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, High palat...	OMIM:619148
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Campomelic Dysplasia	Respiratory distress, Irregular dentition, Apnea, Anterior tibial bowing, Micrognathia, Delayed e...	OMIM:114290
Lethal Congenital Contracture Syndrome 9	Thin upper lip vermilion, Elbow extension contracture, Ulnar deviation of the hand, Anteverted na...	OMIM:616503
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Symphalangism affecting the ...	ORPHA:2547
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Prominent nose, Micrognathia, Clinodactyly, Downturned corners of mouth, Hi...	ORPHA:177907
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Hyperextensibility of the knee, Micrognathia, Hypoplasia of the maxill...	OMIM:601812
Albers-Schönberg Osteopetrosis	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar...	ORPHA:53
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Prominent nose, Micrognathia, Depressed nasal ridge, Downturned corners of...	OMIM:156200
Alg3-Cdg	Osteopenia, Abnormality of the nose, Metaphyseal chondrodysplasia, Abnormal limb bone morphology,...	ORPHA:79321
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemi...	OMIM:601678
Orofaciodigital Syndrome Xv	Broad hallux, Anteverted nares, Postaxial hand polydactyly, Duplication of phalanx of hallux, Wid...	OMIM:617127
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Coronary artery calcification, Cardiomegaly, Cong...	OMIM:614473
Lethal Acantholytic Erosive Disorder	Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Respiratory failure, Cli...	ORPHA:158687
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thin upper lip vermilion, Depressed nasal bridge, Dental crowding, Sandal gap, Tapered finger, Mi...	OMIM:617061
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose, Thick vermilion border, Abnormal pattern of respiration, Long philtrum	ORPHA:833
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome...	ORPHA:846
Fetal Hydantoin Syndrome	Short stature, Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip vermilion, Trip...	ORPHA:1912
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dela...	ORPHA:819
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis, Chorioretinal coloboma, Retinal degeneration	OMIM:610688
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Polyhydramnios, Splenomegaly, Patent du...	OMIM:613610
Acromesomelic Dysplasia 4	Mandibular prognathia, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, R...	OMIM:619636
Carey-Fineman-Ziter Syndrome	Anteverted nares, Aplasia/Hypoplasia of the tongue, Short stature, Micrognathia, Pierre-Robin seq...	ORPHA:1358
Hypomandibular Faciocranial Dysostosis	Death in infancy, Recurrent respiratory infections, Anteverted nares, Aplasia/Hypoplasia of the t...	ORPHA:1790
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of the odontoi...	ORPHA:239
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Rocker bottom foot, Narrow nasal ridge, Prominent nose, Abnormality of th...	ORPHA:363528
Nicolaides-Baraitser Syndrome	Enlarged joints, Short lingual frenulum, High, narrow palate, Short metatarsal, Prominent interph...	OMIM:601358
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Rocker bottom foot, Recurrent fractures, Micrognathia, Prominent nose, Tibial bowi...	ORPHA:453510
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Death in infancy, Neonatal respiratory distress, Tapered toe, Apnea, Tapered finger, Lo...	OMIM:608836
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo...	OMIM:239300
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Tapered finger, Thick low...	OMIM:619854
Trisomy 12P	Short stature, Micrognathia, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Large ...	ORPHA:1699
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Elbow dislocation, Absent radius, ...	OMIM:171480
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Chorioretinal hyperpigmentation, Optic atrophy, Bile duct prolifer...	OMIM:618329
Pontocerebellar Hypoplasia Type 1	Arthrogryposis multiplex congenita, Respiratory failure, Tongue fasciculations, Congenital laryng...	ORPHA:2254
Trigonocephaly 1	Craniosynostosis, High, narrow palate, Wide nasal bridge, Metopic synostosis, Long philtrum, Shor...	OMIM:190440
Orofaciodigital Syndrome Iv	Toe syndactyly, Short stature, Hamartoma of tongue, Accessory oral frenulum, Postaxial polydactyl...	OMIM:258860
Infantile Systemic Hyalinosis	Short palm, Osteopenia, Severe short stature, Abnormal dental morphology, Camptodactyly of finger...	ORPHA:2176
Grfoma	Hypercalcemia, Elevated circulating growth hormone concentration, Neoplasm of the thymus, Abnorma...	ORPHA:97261
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Tapered finger, Postnatal growth retardation, Hip dysplasia, Talipes equinovarus, Clinodactyly of...	OMIM:617219
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Depressed nasal ridge, Tibial bowing, Short palm, Abnor...	ORPHA:175
Tarp Syndrome	Anteverted nares, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Hypoplasia of the radi...	OMIM:311900
Alg9-Cdg	Villous atrophy, Micrognathia, Abnormal lung lobation, Narrow greater sciatic notch, Abnormal bon...	ORPHA:79328
Distal Duplication 5Q	Hypoplasia of the ulna, Brachydactyly, Short stature, Prominent nasal bridge, Craniosynostosis, A...	ORPHA:96097
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, High pa...	ORPHA:1106
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose, Short stature	OMIM:245570
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to...	ORPHA:989
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Thin upper lip vermilion, Hyperextensibility of the finger joints, Recurrent respiratory infectio...	ORPHA:3041
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Death in infancy, Pulmonary hypoplasia, Death in childhood	OMIM:614096
Severe Congenital Nemaline Myopathy	Multiple prenatal fractures, Flexion contracture, Respiratory failure, Pulmonary hypoplasia, Arth...	ORPHA:171430
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypouricemia, Rickets, Hypophosphatemia	OMIM:616026
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Cleft upper lip, Depressed nasal ridge, Cleft palate, Pol...	OMIM:613885
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Prominent nose, Micrognathia, High, narrow pa...	ORPHA:435638
Kinsship Syndrome	Mandibular prognathia, Osteopenia, Micrognathia, Downturned corners of mouth, Short philtrum, Wid...	OMIM:619297
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroidism, Decreased skull ossification, Calvar...	OMIM:244460
Fetal Trimethadione Syndrome	Depressed nasal bridge, Micrognathia, High palate, Intrauterine growth retardation, Short nose	ORPHA:1913
Fanconi Renotubular Syndrome 1	Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia	OMIM:134600
Combined Oxidative Phosphorylation Deficiency 4	Intrauterine growth retardation, Respiratory failure, Death in infancy	OMIM:610678
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory tr...	ORPHA:365
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Respiratory distress, Tapered finger, Flexion contracture, Hyperextensibilit...	ORPHA:544503
Gm1 Gangliosidosis	Mandibular prognathia, Recurrent respiratory infections, Coarse metaphyseal trabecularization, De...	ORPHA:354
Nievergelt Syndrome	Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Mesomelic short s...	OMIM:163400
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Diastema, Metopic synostosis, Long philtrum, Short nose	OMIM:300581
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Thin upper lip vermilion, Respiratory distress, Recurrent respiratory infections, Mic...	ORPHA:329178
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Short stature, Pseudoepiphyses of the metacarpals, Coxa val...	OMIM:618150
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Tapered finger, Micrognathia, Narrow mouth, Wide nasal bridge, Narrow palate, Hypoplasia of teeth...	OMIM:620250
Distal Deletion 10Q	Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, High palate, Clinod...	ORPHA:96148
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Joint hypermobility, Short no...	OMIM:300143
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Maternal Uniparental Disomy Of Chromosome 2	Neonatal respiratory distress, Miscarriage, Postnatal growth retardation, Preaxial hand polydacty...	ORPHA:96179
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Peripheral pulmonary artery stenosis, Anal stenosis, Tented upper lip vermilion, Aganglionic mega...	OMIM:614749
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Thick nasal alae, Episodic tachypnea, Micrognathia, Retrognathia, Apneic episodes in infancy, Sho...	ORPHA:163961
Spondylocarpotarsal Synostosis Syndrome	Coxa vara, Clinodactyly of the 5th finger, Vertebral fusion, Short metacarpal, Anteverted nares, ...	OMIM:272460
Dent Disease 1	Enlargement of the ankles, Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures...	OMIM:300009
Al-Raqad Syndrome	Joint laxity, Thin upper lip vermilion, Sandal gap, Narrow mouth, Short nose, Brachydactyly	OMIM:616459
Contractures-Developmental Delay-Pierre Robin Syndrome	Arachnodactyly, Overlapping toe, Underdeveloped nasal alae, Metatarsus adductus, High, narrow pal...	ORPHA:436003
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Epistaxis, Pulmonary arteriovenous malformation, Cerebral ar...	OMIM:175050
Robinow Syndrome	Dental crowding, Micrognathia, Orofacial cleft, Fused thoracic vertebrae, Syndactyly, Depressed n...	ORPHA:97360
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Joint laxity, Rhizomelia, Abnormal respiratory system physiology, Absent n...	ORPHA:171866
Linear Skin Defects With Multiple Congenital Anomalies 2	Sandal gap, Short stature, Long philtrum, Pulmonary arterial hypertension, Short nose	OMIM:300887
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
Pheochromocytoma	Pheochromocytoma, Hypercalcemia	OMIM:171300
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Short stature, Prominent nasal bridge, Proximal placement of thumb, Tapered...	ORPHA:251071
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev...	ORPHA:70578
Scimitar Syndrome	Heart block, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus a...	ORPHA:185
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Anteverted nares, Short stature, Cleft upper lip, Postnatal growth reta...	OMIM:243310
Pfeiffer Syndrome Type 3	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal br...	ORPHA:93260
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Micrognathia, Flexion contracture, Knee flexion contracture, Downtur...	OMIM:265000
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the...	ORPHA:193
Nabais Sa-De Vries Syndrome, Type 1	Neonatal respiratory distress, Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Clin...	OMIM:618828
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Respiratory failure	OMIM:619386
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Depressed nasal bridge, Short femur, Bowed humeru...	OMIM:211350
Geleophysic Dysplasia 1	Short palm, Osteopenia, Anteverted nares, Camptodactyly of finger, Short stature, Coxa valga, Joi...	OMIM:231050
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Dental crowding, Underde...	OMIM:619005
Congenital Multicore Myopathy With External Ophthalmoplegia	Joint laxity, Recurrent respiratory infections, Tented upper lip vermilion, Pneumonia, Flexion co...	ORPHA:98905
Multiple Endocrine Neoplasia Type 2	Joint laxity, Paraganglioma of head and neck, Hypercalcemia, Thyroid C cell hyperplasia, Primary ...	ORPHA:653
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Short stature, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Ir...	OMIM:610442
Alkuraya-Kucinskas Syndrome	Depressed nasal bridge, Anteverted nares, Overlapping toe, Micrognathia, Cutaneous syndactyly, Pl...	OMIM:617822
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Depressed nasal bridge, Anteverted nares, Abnormality of the ...	OMIM:615398
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Depressed nasal b...	ORPHA:140
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Thin upper lip vermilion, Brachydactyly, Recurrent respiratory infections,...	OMIM:300534
Nphp3-Related Meckel-Like Syndrome	Polyhydramnios, Abnormality of the pancreas, Abnormal liver parenchyma morphology, Abnormal bilia...	ORPHA:3032
Restrictive Dermopathy 1	Micrognathia, Flexion contracture, Overtubulated long bones, Neonatal death, Depressed nasal brid...	OMIM:275210
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned ...	ORPHA:3107
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Short stature, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of...	ORPHA:1765
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow...	OMIM:614753
Auriculocondylar Syndrome	Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of t...	ORPHA:137888
Trisomy 8Q	Camptodactyly of finger, Micrognathia, Joint stiffness, Myelomeningocele, Non-midline cleft lip, ...	ORPHA:1752
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Short stature, Micromelia, Postaxial hand polydactyly, Abnormality of the elbow, S...	ORPHA:2491
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow...	OMIM:223800
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, High pala...	ORPHA:98913
Oculodentodigital Dysplasia	Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Microdontia, Prematur...	OMIM:164200
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Retinal telangiectasia, Pulmo...	ORPHA:774
Auriculocondylar Syndrome 1	Dental crowding, Apnea, Micrognathia, Ankylosis, Dental malocclusion, Cleft palate, Mandibular co...	OMIM:602483
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathi...	OMIM:610536
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Anteverted nares, Short stature, Underdeveloped nasal alae, Meningocele, Respiratory insufficienc...	ORPHA:2031
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Radial bowing, ...	OMIM:210720
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Postnatal growth retardation, Flexion contracture, Pulmonary hypoplasia, In...	OMIM:616733
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Thymic Carcinoma	Palpebral edema, Edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Abnormal vena cava m...	ORPHA:99868
Multiple Myeloma	Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Hyperproteinemia, Patho...	ORPHA:29073
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Depressed nasal bridg...	ORPHA:261144
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Congenital hip dislocation, Micrognathia, Fra...	ORPHA:496641
Tarp Syndrome	Apnea, Micrognathia, Glossoptosis, Finger syndactyly, Anteverted nares, Wide nasal bridge, Widely...	ORPHA:2886
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Death in infancy, Short stature, Underdeveloped nasal alae, Abnormalit...	ORPHA:2315
Pseudohypoparathyroidism Type 1C	Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to...	ORPHA:79444
Zygomycosis	Sinusitis, Gastritis, Epistaxis, Atelectasis, Pneumothorax, Enterocolitis, Osteolysis, Pulmonary ...	ORPHA:73263
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Micrognathia, Wide nasal b...	OMIM:247200
Poikiloderma With Neutropenia	Joint laxity, Depressed nasal bridge, Short stature, Underdeveloped nasal alae, Carious teeth, Mi...	OMIM:604173
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Respiratory failure, Stillbirth, Tongue fasciculations, Death in childhood, Neo...	OMIM:614922
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious...	ORPHA:369837
Donnai-Barrow Syndrome	Depressed nasal bridge, Intestinal malrotation, Wide anterior fontanel, Umbilical hernia, Short nose	ORPHA:2143
Schwartz-Jampel Syndrome	Apnea, Micromelia, Micrognathia, Coxa vara, High palate, Wrist flexion contracture, Pursed lips, ...	ORPHA:800
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Conical incisor, Microdontia, Emphysema, Neonatal sh...	ORPHA:289
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia...	OMIM:127000
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Papilledema, Ventricular septal defect, Pericardial effusion, Normo...	OMIM:618775
Pontocerebellar Hypoplasia, Type 1B	Tongue atrophy, Flexion contracture, Hip dislocation, Respiratory insufficiency, Growth delay, To...	OMIM:614678
Relapsing Polychondritis	Chondritis of pinna, Dyspnea, Atelectasis, Limitation of joint mobility, Anteriorly placed anus, ...	ORPHA:728
Glucagonoma	Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality ...	ORPHA:97280
Meckel Syndrome, Type 6	Absent gallbladder, Occipital encephalocele, Anencephaly, Cystic liver disease, Bile duct prolife...	OMIM:612284
Heterotaxy, Visceral, 1, X-Linked	Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arterie...	OMIM:306955
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ...	ORPHA:99106
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Stroke-like episode, Hematochezia,...	ORPHA:79095
Monosomy 13Q34	Hypercalcemia	ORPHA:96168
Meckel Syndrome, Type 5	Anencephaly, Occipital encephalocele, Bile duct proliferation	OMIM:611561
Hereditary Motor And Sensory Neuropathy, Type Iic	Short stature, Down-sloping shoulders, Stridor, Hammertoe, Respiratory failure, Intercostal muscl...	OMIM:606071
5Q14.3 Microdeletion Syndrome	Toe syndactyly, Anteverted nares, Short philtrum, Short nose, Open mouth	ORPHA:228384
Parkes Weber Syndrome	Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V...	ORPHA:90307
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Flexion co...	OMIM:619124
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger...	OMIM:260660
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure	OMIM:614299
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Fetal Akinesia Deformation Sequence 1	Elbow contracture, Micrognathia, High, narrow palate, Congenital contracture, High palate, Wrist ...	OMIM:208150
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Leukodystrophy, Hypomyelinating, 10	Anteverted nares, Arachnodactyly, Bulbous nose, Thin vermilion border, Long philtrum, Malar flatt...	OMIM:616420
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Depressed nasal bridge, Aplasia/Hypoplasia of the fibu...	ORPHA:2256
Meckel Syndrome, Type 2	Encephalocele, Anencephaly, Meningocele, Bile duct proliferation	OMIM:603194
Frank-Ter Haar Syndrome	Osteopenia, Micrognathia, High palate, Short palm, Short phalanx of finger, Cortical irregularity...	OMIM:249420
Spondylospinal Thoracic Dysostosis	Multiple pterygia, Micrognathia, Hypoplasia of the maxilla, Pulmonary hypoplasia, Arthrogryposis ...	OMIM:601809
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Depressed nasal bridge, Anteverted nares, Short stature, Wide nasal bridge, Aspiratio...	OMIM:616430
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Recurrent respiratory infections, Congenital hip dislocation, Dental crowding, A...	ORPHA:2020
Aorta Coarctation	Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Pa...	ORPHA:1457
Autosomal Recessive Multiple Pterygium Syndrome	Multiple pterygia, Micrognathia, Orofacial cleft, Symphalangism affecting the phalanges of the ha...	ORPHA:2990
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Micromelia	OMIM:273680
Microcephalic Primordial Dwarfism, Dauber Type	Short stature, Prominent nose, Abnormal carpal morphology, Madelung deformity, Severe postnatal g...	ORPHA:319675
Neu-Laxova Syndrome 1	Micromelia, Swollen lip, Micrognathia, Calcaneovalgus deformity, Depressed nasal ridge, Neonatal ...	OMIM:256520
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Recurrent fractures, Micromelia, Joint hyperflexibility, Decreased calvarial ossification, Dispro...	ORPHA:2772
Peho Syndrome	Recurrent respiratory infections, Anteverted nares, Tapered finger, Open mouth, Flexion contractu...	ORPHA:2836
Mosaic Trisomy 1	Orofacial cleft, Finger clinodactyly, Pulmonary artery atresia, Absent distal interphalangeal cre...	ORPHA:1692
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Broad hallux, Bulbous nose,...	OMIM:614105
Heterotaxy, Visceral, 7, Autosomal	Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl...	OMIM:616749
Geleophysic Dysplasia 2	Thin upper lip vermilion, Short stature, Joint stiffness, Limitation of joint mobility, Respirato...	OMIM:614185
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, S...	ORPHA:289176
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Pyruvate Dehydrogenase E1-Alpha Deficiency	Neonatal respiratory distress, Flexion contracture, Limb undergrowth, Intrauterine growth retarda...	ORPHA:79243
Harel-Yoon Syndrome	Mandibular prognathia, Short nose, Hip dysplasia, Micrognathia	OMIM:617183
Trisomy 20P	Micrognathia, Reduced bone mineral density, Downturned corners of mouth, Short philtrum, Microdon...	ORPHA:261318
Stickler Syndrome	Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge...	ORPHA:828
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Severe short stature, Micromelia, Increased skull ossificatio...	ORPHA:1422
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Polyhydramnios, Fetal ascites, Splenomegaly, Cholest...	OMIM:261515
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Prominent nasal bridge, Tapered finger, Bulbous nose, Flexion contracture,...	OMIM:613870
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Nablus Mask-Like Facial Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Craniosynostosis, Abnormality...	OMIM:608156
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Venous insufficiency, Retinopathy, Abnormal cerebral vascular morphology, Pulmonary embolism	ORPHA:743
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia	ORPHA:476126
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Pancytopenia, Portal hypertension, Cholestasis, Dilatation of the ...	OMIM:613658
Spondyloepimetaphyseal Dysplasia, Krakow Type	Ulnar deviation of the wrist, Allergic rhinitis, Rhizomelia, Elbow contracture, Asthma, 2-3 toe s...	OMIM:618162
Oncogenic Osteomalacia	Increased susceptibility to fractures, Pathologic fracture, Hypocalcemia, Hypophosphatemia	ORPHA:352540
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Hypocalcemia, Decreased response to growth hormone stimulation test	OMIM:606407
Mandibuloacral Dysplasia With Type B Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Short stature, Acroosteolysis of distal phalanges (feet), Ab...	ORPHA:90154
Familial Multiple Nevi Flammei	Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformat...	ORPHA:624
Whim Syndrome	Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac...	ORPHA:51636
Boomerang Dysplasia	Severe short stature, Underdeveloped nasal alae, Absent radius, Wide nasal bridge, Hypoplastic na...	OMIM:112310
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, S...	OMIM:612530
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr...	OMIM:616843
Acheiropody	Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab...	OMIM:200500
Von Willebrand Disease	Venous insufficiency, Abnormal mitral valve morphology	ORPHA:903
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Death in infancy, Aplasia/Hypo...	ORPHA:570
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short stature, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand po...	ORPHA:79113
Microcephaly-Capillary Malformation Syndrome	Wide nose, Brachydactyly, Short stature, Hypoplasia of the maxilla, Cleft palate, Clinodactyly, S...	OMIM:614261
Congenital Varicella Syndrome	Intrauterine growth retardation, Micromelia	ORPHA:291
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Short palm, Clinodactyly of the 5th finger, Branchial fistula, Arachnodactyl...	ORPHA:261330
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Sandal gap, Tapered...	OMIM:618430
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Overlapping toe, Tapered finger, Respiratory t...	OMIM:618975
Sanjad-Sakati Syndrome	Hypoparathyroidism, Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Congenital hypoparath...	ORPHA:2323
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Recurrent respiratory infections, Postaxial polydactyly, Respiratory insufficiency, Short long bo...	OMIM:615633
Dpm1-Cdg	Tented upper lip vermilion, Depressed nasal bridge, Sandal gap, Micrognathia, High, narrow palate...	ORPHA:79322
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, P...	OMIM:227330
Microform Holoprosencephaly	Narrow nasal bridge, Tented upper lip vermilion, Midnasal stenosis, Anteverted nares, Choanal atr...	ORPHA:280200
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Recurrent lower res...	OMIM:617802
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Thin upper lip vermilion, Depressed nasal bridge, Joint hypermobility, Long nose, Dow...	OMIM:618590
Toriello-Carey Syndrome	Neonatal respiratory distress, Aganglionic megacolon, Short stature, Micrognathia, Postnatal grow...	ORPHA:3338
Catel-Manzke Syndrome	Joint dislocation, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid...	OMIM:616145
Peho Syndrome	Tented upper lip vermilion, Tapered finger, Short nose, Retrognathia, Open mouth	OMIM:260565
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Oligodontia, Aplasia of the distal phalanx of the 5th f...	OMIM:608670
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter...	OMIM:605711
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Arachnodactyly, Apnea, Micrognathia, Short nose, Delayed cranial suture closure	ORPHA:1129
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Metaphyseal widening, Death in childhood, Progressive alveolar ridge hy...	OMIM:252500
Developmental Malformations-Deafness-Dystonia Syndrome	Death in early adulthood, Hypoplastic scapulae, Short stature, Femoral retroversion, Micromelia, ...	ORPHA:79107
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ...	OMIM:618278
Toluene Embryopathy	Short stature, Micrognathia, Tapered finger, Thin vermilion border, Hypoplasia of the zygomatic b...	ORPHA:1920
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Prominent nose, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, P...	OMIM:210710
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Hydroxyprolinemia, Os...	OMIM:239000
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of the ulna, Short stature...	OMIM:613091
Apert Syndrome	Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, De...	ORPHA:87
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Death in infancy, Anteverted nares, Depressed nasal bridge, Micrognathia, Pierre...	OMIM:300868
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Clinodactyly, Flexion contracture, Femoral bowing, Anteriorly placed anus, C...	ORPHA:95699
Alg1-Cdg	Respiratory failure, Limitation of joint mobility, Protein-losing enteropathy	ORPHA:79327
Desmosterolosis	Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, Micrognathia, Generalized osteosclerosis,...	OMIM:602398
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Overlapping toe, Short stature, Cleft lip, Bulbous nose, Deep philtrum, Wide n...	OMIM:618571
Kleefstra Syndrome	Delayed eruption of teeth, Mandibular prognathia, Recurrent respiratory infections, Tented upper ...	ORPHA:261494
Angioosteohypotrophic Syndrome	Prominent superficial veins, Telangiectasia of the skin, Venous malformation, Edema	ORPHA:75508
Prolidase Deficiency	Depressed nasal bridge, Micrognathia, Asthma, Recurrent pneumonia, Concave nasal ridge, High pala...	OMIM:170100
Lethal Congenital Contracture Syndrome 1	Neonatal death, Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Micrognathia	OMIM:253310
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Leukocy...	OMIM:603903
Bloom Syndrome	Pneumonia, Stomach cancer, Micrognathia, Esophageal neoplasm, Bronchitis, Respiratory tract infec...	ORPHA:125
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio...	OMIM:208500
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Micromelia, Micrognathia, High, narrow palate, Downturned corners of...	OMIM:122470
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, High palate, Clinodactyly of the 5th finger, Bifid uvul...	OMIM:616580
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Dental crowding, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Anteverted nar...	OMIM:301044
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Xylt1-Cdg	Joint dislocation, Joint laxity, Short stature, Coxa valga, Flared metaphysis, Cleft palate, Grow...	ORPHA:370930
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Micrognathia...	ORPHA:1974
Ogden Syndrome	Congenital hip dislocation, Apnea, Micrognathia, Deep philtrum, Short philtrum, High palate, Clin...	OMIM:300855
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Postnatal growth retardation, Wide anterior fontanel, Ulnar bowing, Short...	OMIM:619135
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Caffey Disease	Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs	OMIM:114000
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Depressed nasal bridge, Preaxial hand polydactyly, Foot polydactyly, Lympho...	ORPHA:210548
Weiss-Kruszka Syndrome	Prominent metopic ridge, Exaggerated cupid's bow, Anteverted nares, Proximal placement of thumb, ...	OMIM:618619
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Keutel Syndrome	Sinusitis, Cartilaginous ossification of nose, Deep philtrum, Pulmonary artery hypoplasia, Emphys...	OMIM:245150
Autosomal Dominant Kenny-Caffey Syndrome	Decreased skull ossification, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany, Cong...	ORPHA:93325
Mirizzi Syndrome	Elevated hepatic transaminase, Tachycardia, Pancreatitis, Jaundice, Cholesterol gallstones, Chole...	ORPHA:521219
Seckel Syndrome 2	Short stature, Micrognathia, Prominent nose, Growth delay, Clinodactyly of the 5th finger, Microd...	OMIM:606744
Trisomy 10P	Thumb contracture, Wide cranial sutures, Anteverted nares, Depressed nasal bridge, Abnormality of...	ORPHA:171929
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Hypothyroidism, Hypocalcemia	ORPHA:1563
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia...	OMIM:619313
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile...	ORPHA:562639
Cerebrooculonasal Syndrome	Encephalocele, U-Shaped upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proboscis,...	OMIM:605627
Lujo Hemorrhagic Fever	Respiratory distress, Stiff neck, Crackles, Nonproductive cough, Atelectasis, Rhinitis	ORPHA:319213
Mccune-Albright Syndrome	Hyperthyroidism, Osteomalacia, Elevated circulating growth hormone concentration, Recurrent fract...	ORPHA:562
Orofaciodigital Syndrome Type 6	Apnea, Episodic tachypnea, Micrognathia, Preaxial polydactyly, Finger clinodactyly, Lobulated ton...	ORPHA:2754
Pseudohypoparathyroidism Type 1A	Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to...	ORPHA:79443
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Short stature, Accessory oral frenulu...	OMIM:277170
Multiple Acyl-Coa Dehydrogenase Deficiency	Depressed nasal bridge, Dyspnea, Wide anterior fontanel, Cardiorespiratory arrest, Restrictive ve...	ORPHA:26791
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Mandibuloacral Dysplasia	Dental crowding, Delayed cranial suture closure, Micrognathia, Postnatal growth retardation, Abno...	ORPHA:2457
Musculocontractural Ehlers-Danlos Syndrome	Microretrognathia, Thin upper lip vermilion, Recurrent joint dislocation, Craniosynostosis, Taper...	ORPHA:2953
Meckel Syndrome, Type 9	Limb undergrowth, Occipital encephalocele, Talipes equinovarus	OMIM:614209
Meckel Syndrome 14	Microretrognathia, Occipital encephalocele, Syndactyly, Bowing of the long bones, Anteverted nare...	OMIM:619879
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Transient ischemic attack, Abn...	ORPHA:99104
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure	ORPHA:70472
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Joint laxity, Anteverted nares, Prominent nasal bridge, Tracheobronchomalacia, Recurrent pneumoni...	ORPHA:500159
Absent Eyebrows And Eyelashes With Mental Retardation	Encephalocele, Short nose, Convex nasal ridge	OMIM:200130
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona...	OMIM:610655
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Abnormality of bone mineral d...	ORPHA:861
Micro Syndrome	Anteverted nares, Short stature, Micrognathia, Joint stiffness, Wide nasal bridge, High palate, S...	ORPHA:2510
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Postnatal growth retardation, Disproportionate short-trunk short stature, Coxa vara, Hypoplasia o...	OMIM:313400
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Depressed nasal bridge, Anteve...	ORPHA:1465
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Tongue atrophy, Talipes equinovarus, Knee flexion contracture	ORPHA:496689
Diamond-Blackfan Anemia 8	Short stature, Wide nasal bridge, Growth delay, Short nose, Thick upper lip vermilion	OMIM:612563
Muscular Dystrophy, Duchenne Type	Hypoventilation, Respiratory insufficiency due to muscle weakness, Achilles tendon contracture, F...	OMIM:310200
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa...	OMIM:619525
Lymphangioleiomyomatosis	Recurrent respiratory infections, Dyspnea, Atelectasis, Pneumothorax, Pulmonary infiltrates, Rest...	ORPHA:538
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, ...	OMIM:250420
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Short long bone, Talipes equinovarus, Death in infancy	OMIM:618845
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Prominent metopic ridge, Tented upper lip vermilion, Mandibular prog...	ORPHA:488632
Occipital Horn Syndrome	Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormal...	ORPHA:198
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hypoplastic iliac wing, Pterygium, ...	OMIM:263650
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Anteverted nares, Aganglionic megacolon, Esophageal atresia...	ORPHA:59315
Czeizel-Losonci Syndrome	Hitchhiker thumb, Spina bifida, Micrognathia, Myelomeningocele, 2-3 finger syndactyly, Tracheoeso...	ORPHA:2437
9Q21.13 Microdeletion Syndrome	Wide nasal ridge, Craniosynostosis, Postnatal growth retardation, Abnormal tongue morphology, Dow...	ORPHA:531151
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con...	OMIM:271640
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Pulmonary carcinoi...	ORPHA:363618
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Myasthenic Syndrome, Congenital, 10	Respiratory insufficiency due to muscle weakness, Tongue atrophy, Reduced vital capacity	OMIM:254300
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Convex nasal ridge, Micromelia, Micrognathia, Osteoarthr...	ORPHA:666
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentratio...	OMIM:618183
Ring Chromosome 7 Syndrome	Mandibular prognathia, Short philtrum, Clinodactyly of the 5th finger, Median cleft palate, Bifid...	ORPHA:1449
Fanconi-Bickel Syndrome	Osteopenia, Diabetes mellitus, Hypertriglyceridemia, Rickets, Hypophosphatemia	ORPHA:2088
Developmental Delay With Or Without Dysmorphic Facies And Autism	Micrognathia, 2-3 toe cutaneous syndactyly, Short philtrum, Clinodactyly of the 5th finger, Depre...	OMIM:618454
1Q41Q42 Microdeletion Syndrome	Depressed nasal bridge, Short stature, Underdeveloped nasal alae, Broad nasal tip, Submucous clef...	ORPHA:250999
Hydrolethalus	Micromelia, Micrognathia, Postaxial hand polydactyly, Submucous cleft hard palate, Anencephaly, G...	ORPHA:2189
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	ORPHA:308552
Riddle Syndrome	Short stature, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary ...	ORPHA:420741
Hartnup Disorder	Glossitis, Short stature	OMIM:234500
Deeah Syndrome	Death in infancy, Neonatal respiratory distress, Overlapping fingers, Short stature, Malabsorptio...	OMIM:619004
Lathosterolosis	Prominent metopic ridge, Toe syndactyly, Anteverted nares, Micrognathia, Bulbous nose, Meningocel...	ORPHA:46059
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Mild short stature, Short nose	OMIM:620292
Orofaciodigital Syndrome Type 1	Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t...	ORPHA:2750
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Craniosynostosis, Hypocalcemia, Osteopetrosis, Pat...	OMIM:259700
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Ankle clonus, Respiratory failure	OMIM:613954
Leigh Syndrome	Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency	OMIM:256000
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Retinal detachment, Congestive heart failure, Arterial rupture, Mitral valve prolapse, Microcorne...	ORPHA:1900
Tetrasomy 18P	Large hands, Thin vermilion border, Narrow mouth, Short nose, Long philtrum	ORPHA:3307
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Depressed nasal bridge, Short stature, Postaxial polydactyly, Preaxial polydactyly, F...	OMIM:615503
Acrodysostosis 1 With Or Without Hormone Resistance	Elevated circulating thyroid-stimulating hormone concentration, Neonatal epiphyseal stippling, Co...	OMIM:101800
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Nephronophthisis 2	Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:602088
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism	ORPHA:745
Frontofacionasal Dysplasia	Encephalocele, Depressed nasal bridge, Choanal atresia, Short stature, Bifid nasal tip, Non-midli...	ORPHA:1791
Jacobsen Syndrome	Long hallux, Broad columella, Abnormality of the anus, Broad hallux phalanx, Finger syndactyly, D...	ORPHA:2308
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Interstitial pneumonitis, Restrictive ventilatory defect, Respiratory failure, Recurrent upper re...	OMIM:620296
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ...	ORPHA:99103
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Advanced eruption of teeth,...	OMIM:615873
Schinzel-Giedion Syndrome	Respiratory distress, Micrognathia, Abnormality of the gingiva, Tibial bowing, Anteriorly placed ...	ORPHA:798
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Achilles tendon contracture, Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation	OMIM:603689
Costello Syndrome	Hyperextensibility of the finger joints, Depressed nasal bridge, Anteverted nares, Limited elbow ...	OMIM:218040
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Donnai-Barrow Syndrome	Depressed nasal bridge, Intestinal malrotation, Broad nasal tip, Wide anterior fontanel, Short st...	OMIM:222448
Mesomelic Dysplasia, Savarirayan Type	Short stature, Delayed closure of the anterior fontanelle, Hip dislocation, Mesomelia, Short tibi...	OMIM:605274
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Tented upper lip vermilion, Apnea, Rocker bottom foot, M...	ORPHA:521426
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Broad nasal tip, Thickened cortex of long bones, Small hand, Retrognathia, Depressed ...	ORPHA:488434
Lethal Congenital Contracture Syndrome 2	Arthrogryposis multiplex congenita, Respiratory failure, Micrognathia	OMIM:607598
Hallermann-Streiff Syndrome	Micrognathia, High, narrow palate, Reduced bone mineral density, Glossoptosis, Clinodactyly of th...	ORPHA:2108
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Long fibula	ORPHA:935
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Postaxial polydactyly, Micromeli...	OMIM:617866
Cerebrocostomandibular Syndrome	Death in infancy, Neonatal respiratory distress, Short stature, Spina bifida, Micrognathia, Trach...	ORPHA:1393
Van Esch-O'Driscoll Syndrome	Depressed nasal bridge, Short stature, Esophageal atresia, Pulmonary artery stenosis, Tracheoesop...	OMIM:301030
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Accelerated atherosclerosis, Hepatitis, Cholestasis, Acute hepatic steatosis, Aortic atherosclero...	ORPHA:209902
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Tachypnea, Death in childhood	OMIM:615838
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prom...	OMIM:300912
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Micrognathia, Hip dysplasia, Delayed puberty, Short nose	ORPHA:496790
Warburg Micro Syndrome 3	Micrognathia, Postnatal growth retardation, Flexion contracture, Narrow palate, Ankle clonus, Dow...	OMIM:614222
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Anal stenosis, Depressed nasal bridge, Anteverted nares, Micrognathia, Open mouth, Cleft palate, ...	OMIM:614080
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Hypersplenism, Cavernous hemangioma, Pulmonary arterial hyp...	OMIM:616028
Nijmegen Breakage Syndrome	Recurrent sinopulmonary infections, Anal stenosis, Recurrent respiratory infections, Depressed na...	ORPHA:647
Digeorge Syndrome	Short stature, Micrognathia, High, narrow palate, Asthma, Chronic pulmonary obstruction, Recurren...	OMIM:188400
Rothmund-Thomson Syndrome, Type 2	Delayed eruption of teeth, Mandibular prognathia, Congenital hip dislocation, Depressed nasal bri...	OMIM:268400
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Short stature, Hypoplasia of the zygomatic bone, Malar flattening, Short ...	ORPHA:2835
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Recurre...	OMIM:211530
Gm1 Gangliosidosis Type 1	Depressed nasal bridge, Broad nasal tip, Gingival overgrowth, Hypoplastic vertebral bodies, Macro...	ORPHA:79255
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Neopl...	ORPHA:171
Fanconi-Bickel Syndrome	Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased ...	OMIM:227810
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha...	OMIM:619743
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermi...	OMIM:617865
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Tracheobronchomalacia, Mic...	OMIM:613458
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Anteverted nares, Camp...	ORPHA:261236
Congenital Myopathy 1B, Autosomal Recessive	Joint laxity, Recurrent respiratory infections, Respiratory insufficiency, High palate, Pulmonary...	OMIM:255320
Gapo Syndrome	Anteverted nares, Depressed nasal bridge, Delayed closure of the anterior fontanelle, Micrognathi...	OMIM:230740
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato...	OMIM:203700
Snakebite Envenomation	Respiratory failure, Respiratory paralysis, Epistaxis, Gingival bleeding	ORPHA:449285
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Anteverted nares, Short stature, Macroglossia, Severe postnatal growth re...	OMIM:613038
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Recurrent respiratory infections, Anteverted nares, Cleft soft palate, Short stature, Micrognathi...	ORPHA:2282
19P13.13 Microdeletion Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Sandal gap, Long fingers, Cli...	ORPHA:357001
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora...	ORPHA:980
Congenital Disorder Of Glycosylation, Type Il	Depressed nasal bridge, Hip dislocation, Wide mouth, Long philtrum, Short nose	OMIM:608776
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Respiratory distress, Micromelia, Long philtrum, Short nose, Adducted thumb	ORPHA:50810
Meier-Gorlin Syndrome 7	Bowing of the legs, Anteriorly placed anus, High palate, Dislocated radial head, 2-4 finger synda...	OMIM:617063
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Short stature, Pneumonia, Bowing of the legs, H...	ORPHA:1855
Waardenburg Syndrome Type 1	Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Underdeve...	ORPHA:894
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Atrial septal defect, Pancreatic hypoplas...	ORPHA:2255
Tibial Muscular Dystrophy	Respiratory failure	ORPHA:609
Timothy Syndrome	Hypothyroidism, Hypocalcemia	OMIM:601005
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure	ORPHA:352447
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Bilateral talipes equinovarus, Pulmonary hypoplasia, Short stature	OMIM:618174
C Syndrome	Joint dislocation, Micromelia, Micrognathia, High palate, Clinodactyly of the 5th finger, Abnorma...	ORPHA:1308
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Neonatal respiratory distress, Congenital hip dislocation, Depressed na...	OMIM:244450
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Abnormal lung lobation, Clinodactyly of the...	ORPHA:264450
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Short stat...	ORPHA:209905
Carey-Fineman-Ziter Syndrome 1	Depressed nasal bridge, Anteverted nares, Broad nasal tip, Tapered finger, Micrognathia, Trismus,...	OMIM:254940
Mosaic Trisomy 9	Camptodactyly of finger, Spina bifida, Intestinal malrotation, Elbow dislocation, Rocker bottom f...	ORPHA:99776
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Short stature, Epistaxis, Wheezing, Rickets, Fat malabsorption	OMIM:211600
Igg4-Related Thyroid Disease	Nodular goiter, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Thyroidi...	ORPHA:64744
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Apnea, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long ...	OMIM:617527
Chops Syndrome	Anteverted nares, Short stature, High, narrow palate, Anomalous pulmonary venous return, Downturn...	OMIM:616368
Wiedemann-Steiner Syndrome	Thin upper lip vermilion, Aplasia/Hypoplasia of the ribs, Hyperextensibility at elbow, Rhizomelia...	ORPHA:319182
Cebalid Syndrome	Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, High palate, Short nose	OMIM:618774
Distal Deletion 15Q	Micrognathia, 2-3 toe cutaneous syndactyly, Generalized joint laxity, Finger clinodactyly, Short ...	ORPHA:1596
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Hypoplasia of the maxilla, Downturned corners of mouth, Short philtrum,...	ORPHA:500150
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Chromosome 14Q11-Q22 Deletion Syndrome	Prominent metopic ridge, Depressed nasal bridge, Proportionate short stature, Micrognathia, Wide ...	OMIM:613457
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi...	OMIM:225500
Orofaciodigital Syndrome Iii	Supernumerary tooth, Bulbous nose, Postaxial hand polydactyly, Tongue nodules, Postaxial foot pol...	OMIM:258850
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Microphthalmia, Syndromic 9	Severe short stature, Short stature, Micrognathia, Agenesis of pulmonary vessels, Wide nasal brid...	OMIM:601186
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
X-Linked Agammaglobulinemia	Arthritis, Osteomyelitis, Hypocalcemia	ORPHA:47
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperphosphatemia	OMIM:211900
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ...	OMIM:607625
Autosomal Dominant Hypocalcemia	Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
3Q29 Microdeletion Syndrome	Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Tapered finger, Orofacial ...	ORPHA:65286
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, High, narrow palate, Short philtrum, Finger sy...	ORPHA:464738
Hyperparathyroidism, Transient Neonatal	Osteopenia, Respiratory distress, Wide cranial sutures, Short femur, Anteverted nares, Depressed ...	OMIM:618188
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Increased density of long bones, Tibial bowing, Hypoplasia of fi...	OMIM:269150
Ayme-Gripp Syndrome	Smooth philtrum, Thin upper lip vermilion, Brachydactyly, Mandibular prognathia, Depressed nasal ...	OMIM:601088
Trisomy 18	Microretrognathia, Short stature, Choanal atresia, Camptodactyly of finger, Spina bifida, Esophag...	ORPHA:3380
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, High palate, Ve...	OMIM:213980
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Depressed nasal bridge, Anteverted nares, Short stature, Micrognathia, Postnatal growt...	OMIM:257300
Saethre-Chotzen Syndrome	Long nose, Hypoplasia of the maxilla, Partial duplication of the distal phalanx of the 3rd finger...	OMIM:101400
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Tetraamelia Syndrome 2	Microretrognathia, Bilateral cleft lip, Micrognathia, Hypoplastic pulmonary veins, Cleft palate, ...	OMIM:618021
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Hypoplastic ilia, H...	ORPHA:93333
Severe Neurodegenerative Syndrome With Lipodystrophy	Respiratory failure	ORPHA:363400
Granulomatous Disease, Chronic, X-Linked	Osteomyelitis, Atelectasis, Recurrent pneumonia, Air bronchogram, Rectal abscess, Cough, Pleural ...	OMIM:306400
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Abnormal lung lobation, Advanced eruption of teeth, Fi...	ORPHA:818
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia...	ORPHA:231222
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Atrial septal defect, Ventricular septal defect, Decreased response to growth hormo...	OMIM:602782
Zttk Syndrome	Unilateral lung agenesis, Hypoplasia of the maxilla, Flexion contracture, Downturned corners of m...	OMIM:617140
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Clinodactyly, Syndactyly, Short nose, Mandibular prognathia	OMIM:618087
Mosaic Trisomy 16	Syndactyly, Abnormality of the nose, Large placenta, Short thumb, Abnormal lung morphology, Anter...	ORPHA:1708
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h...	OMIM:200980
Short Stature, Microcephaly, And Endocrine Dysfunction	Short stature, Prominent nasal bridge, Broad nasal tip, Long nose, Clinodactyly, Disproportionate...	OMIM:616541
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Short stature, Humeroradial synost...	OMIM:134780
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra...	OMIM:151050
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Choanal stenosis, Malar flattenin...	OMIM:241310
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Arthritis, Hypoalbuminemia, ...	ORPHA:247353
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Rectal prolapse, Thick nasal sept...	OMIM:303600
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Short philtrum, Joint contracture of the 5th finger, Prominent fingertip pads, Microd...	ORPHA:363611
Developmental And Epileptic Encephalopathy 75	Anteverted nares, Wide nasal bridge, Short philtrum, Open mouth, Short nose	OMIM:618437
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Single naris, Respiratory failure, Short ...	OMIM:615636
Hypoglossia With Situs Inversus	Respiratory distress, Micrognathia, Upper airway obstruction, High palate, Hypodontia, Narrow mou...	OMIM:612776
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Coxa vara, Tibial bowing, Reduced bone mineral density, High palate, Abnormal bone ossification, ...	ORPHA:93315
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Depressed nasal bridge, Anteverted nares, Sh...	OMIM:115150
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,...	OMIM:263400
Lipoid Proteinosis	Recurrent respiratory infections, Nasal polyposis, Abnormal oral mucosa morphology, Abnormality o...	ORPHA:530
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, High...	OMIM:220110
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Depressed nasal bridge, Wide anterior fontanel, Pulmonary hypoplasia, Neona...	OMIM:231680
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Atrioventricular ...	ORPHA:210122
Clapo Syndrome	Lymphedema, Varicose veins, Capillary hemangioma, Lymphangioma, Ganglioneuroma, Venous malformation	ORPHA:168984
Enlarged Parietal Foramina	Occipital encephalocele, Multiple exostoses, Myelomeningocele, Abnormal cerebral vein morphology,...	ORPHA:60015
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Proximal placement of thumb, Absent radius, Esophageal atresia, Tracheoesophageal ...	OMIM:314390
Myotonic Dystrophy 1	Atrial flutter, Atrial fibrillation, Cataract, First degree atrioventricular block, Polyhydramnio...	OMIM:160900
Pontocerebellar Hypoplasia, Type 10	Thin upper lip vermilion, Underdeveloped nasal alae, Tapered finger, Bulbous nose, Wide nasal bri...	OMIM:615803
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Myelopathy, Cervical myelopathy, Respiratory failure, Bradypnea, Death in childhood	OMIM:617186
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Craniosynostosis, Micromelia, Postaxial hand polydactyly, Hypoplasia of the sm...	OMIM:200995
Alagille Syndrome 1	Microcornea, Papillary thyroid carcinoma, Atrial septal defect, Abnormal anterior chamber morphol...	OMIM:118450
Menke-Hennekam Syndrome 1	Micrognathia, Deep philtrum, Flexion contracture, Depressed nasal ridge, Cutaneous syndactyly of ...	OMIM:618332
Caudal Regression Syndrome	Missing ribs, Joint stiffness, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, ...	ORPHA:3027
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Intermittent hyperventilation, Prominent nasal bridge, Short stature, Broad nasal tip, Micrognath...	OMIM:300749
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Cardiogenic...	OMIM:619424
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Brachydactyly, Depressed nasal bridge, Anteverted nares, Dental crowding, Broad...	OMIM:617157
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Microretrognathia, Neonatal respiratory distress, Multiple prenatal fractures, Flexion contractur...	OMIM:616866
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Epiphyseal stippling, Short nose, Joint hemorrhage, Short distal phalanx of finger	OMIM:277450
X-Linked Intellectual Disability, Cantagrel Type	Short nose, Tented upper lip vermilion, Short philtrum	ORPHA:85277
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Wide anterior fontanel, Pyloric stenosis, S...	ORPHA:457279
Fanconi Renotubular Syndrome 3	Growth delay, Rickets, Short stature, Bowing of the legs	OMIM:615605
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Apnea, Central hypoventilation	OMIM:618233
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Short stature, Broad nasal tip,...	OMIM:614207
Distal Triplication 15Q	Arachnodactyly, Craniosynostosis, Micrognathia, Flexion contracture, High palate, Pulmonary hypop...	ORPHA:314588
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, High palate, Recurrent aspiration pneumonia, Prominent palatine ridge...	ORPHA:280633
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Neonatal respiratory distress, Short lingual frenulum, Depressed n...	OMIM:619479
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He...	ORPHA:65682
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Thin upper lip vermilion, Brachydactyly, Depressed nasal bridge, Rocker bottom foot, Tapered fing...	OMIM:601353
Endocrine-Cerebroosteodysplasia	Natal tooth, Syndactyly, Median cleft lip, Bowed forearm bones, Bilateral cleft lip, Sandal gap, ...	OMIM:612651
Spinocerebellar Ataxia Type 1	Respiratory failure	ORPHA:98755
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Prominent metopic ridge, Craniosynostosis, Underdeveloped nasal alae, Wide nasal brid...	ORPHA:453499
Autosomal Erythropoietic Protoporphyria	Edema, Microcytic anemia, Decreased liver function, Cirrhosis, Cholelithiasis	ORPHA:79278
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Syndactyly, Short stature, Hamartoma of tongue,...	OMIM:311200
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Ventricular septal defect, Polyhydramnios, Hepatitis, Hypoplasia of ...	ORPHA:436252
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia...	ORPHA:94093
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Short stature, Micrognathia, Flexion contracture, Osteoporosis, Short nose	OMIM:615851
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Downturned corners of mouth, Glossoptosis, High palate, Aspiration pneumonia, Antev...	ORPHA:444077
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Severe short stature, Bowed humerus, Short tubular bones of the hand, Tibi...	OMIM:184253
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Intrauterine growth retardation, Respiratory failure, Limb joint contracture	OMIM:620327
Fryns Syndrome	Tented upper lip vermilion, Anteverted nares, Median cleft lip, Aganglionic megacolon, Intestinal...	ORPHA:2059
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema	ORPHA:542323
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Short stature, Death in childhood	OMIM:619847
Orofaciodigital Syndrome V	Thin upper lip vermilion, Recurrent respiratory infections, Median cleft lip, Aganglionic megacol...	OMIM:174300
Lathosterolosis	Toe syndactyly, Anteverted nares, Micrognathia, Myelomeningocele, Postaxial hand polydactyly, Ost...	OMIM:607330
Neurofibroma	Neoplasm of the trachea, Symmetric spinal nerve root neurofibromas, Paraspinal neurofibroma, Neur...	ORPHA:252183
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Microretrognathia, Hip contracture, Joint laxity, Overlapping toe, Rocker bottom foot, Short stat...	ORPHA:488642
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Depressed nasal bridge, Abnormal dental enamel morphology, Sandal gap, Cleft palate, Abnormal fib...	ORPHA:1812
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Hi...	ORPHA:3472
Dermotrichic Syndrome	Aganglionic megacolon, Short nose, Depressed nasal bridge, Proportionate short stature	ORPHA:99688
Adult-Onset Still Disease	Cartilage destruction, Recurrent pharyngitis, Joint swelling, Restrictive ventilatory defect, Art...	ORPHA:829
Adenylosuccinase Deficiency	Thin upper lip vermilion, Prominent metopic ridge, Anteverted nares, Wide mouth, Growth delay, Lo...	OMIM:103050
Renal Tubular Dysgenesis	Joint hyperflexibility, Pulmonary hypoplasia	ORPHA:3033
Campomelia, Cumming Type	Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Clubbing o...	ORPHA:1318
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Micrognathia, Flexion contracture, Oligodontia, High palate, Short philtrum, Depressed nasal brid...	OMIM:309590
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Respiratory failure	ORPHA:3226
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Celiac disease, Bulbous nose, Absent cupid's bow, Short ...	ORPHA:284169
Gracile Bone Dysplasia	Decreased skull ossification, Hypocalcemia	OMIM:602361
Jacobsen Syndrome	Recurrent respiratory infections, Depressed nasal bridge, Anteverted nares, Micrognathia, Missing...	OMIM:147791
Lymphedema-Distichiasis Syndrome	Cataract, Predominantly lower limb lymphedema, Patent ductus arteriosus, Corneal erosion, Varicos...	ORPHA:33001
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Bifi...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Bifi...	ORPHA:352665
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Short stature, Craniosynos...	OMIM:252600
Amyotrophic Lateral Sclerosis	Dyspnea, Respiratory failure, Xerostomia, Abnormal respiratory system physiology	ORPHA:803
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Nonimmune hydrops fetalis, Red...	OMIM:266200
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Infantile Nephropathic Cystinosis	Abnormality of thyroid physiology, Rickets, Abnormal blood ion concentration, Hypokalemia, Hypoph...	ORPHA:411629
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Micrognathia, Absent or minimally ossified vertebral bodies, Short palm, Depressed na...	ORPHA:93271
Alg12-Cdg	Proximal placement of thumb, Micrognathia, Short philtrum, Abnormal bone ossification, Clinodacty...	ORPHA:79324
Peripartum Cardiomyopathy	Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial...	ORPHA:563
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Edema, Anemia of inadequate production, Por...	ORPHA:3202
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Ventricular septal defect, Lymphe...	OMIM:153400
Celiac Disease, Susceptibility To, 1	Osteoporosis, Thyroiditis, Rickets, Hypocalcemia, Delayed puberty, Type I diabetes mellitus	OMIM:212750
Solar Urticaria	Dyspnea, Abnormal lip morphology, Abnormal tongue morphology, Wheezing	ORPHA:97230
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, H...	OMIM:618476
Smith-Lemli-Opitz Syndrome	Dental crowding, Proximal placement of thumb, Micromelia, Micrognathia, 2-3 toe cutaneous syndact...	OMIM:270400
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Anteverted nares, Recurrent pneumonia, 2-3 toe syndactyly, Cleft pala...	OMIM:616449
Juvenile Polyposis Syndrome	Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformation, Edema, Hamartomatous po...	ORPHA:2929
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Death in childhood, Death in adolescence, Osteoporosis, Rickets	OMIM:560000
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Frontorhiny	Encephalocele, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, C...	ORPHA:391474
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Sever...	ORPHA:85167
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Clin...	OMIM:117650
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Accessory oral frenulum, Hamartoma of tongue, Aplastic clavicle, Postaxia...	OMIM:616546
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Short stature, Bulbous nose, Wide nasal bridge, Short foot,...	ORPHA:250989
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Pericardial effusion, Thrombocytopenia, ...	ORPHA:77259
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Sandal gap, Micromelia, Short stature, Postnatal growth retardation, Th...	OMIM:614800
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil...	OMIM:619656
Cornelia De Lange Syndrome	Proximal placement of thumb, Micromelia, Micrognathia, Downturned corners of mouth, Widely spaced...	ORPHA:199
Trichothiodystrophy 1, Photosensitive	Death in infancy, Intestinal obstruction, Short stature, Malabsorption, Asthma, Flexion contractu...	OMIM:601675
Dent Disease	Enlarged epiphyses, Enlargement of the ankles, Bulging epiphyses, Thin bony cortex, Osteomalacia,...	ORPHA:1652
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
8Q24.3 Microdeletion Syndrome	Branchial cyst, Respiratory distress, Congenital hip dislocation, Micromelia, Abnormal lung lobat...	ORPHA:508488
Witteveen-Kolk Syndrome	Proximal placement of thumb, High, narrow palate, Clinodactyly, Short philtrum, High palate, Shor...	OMIM:613406
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Abnormal lung lobation, Narrow greater sciatic notch, Short palm, Exaggera...	OMIM:312870
Fryns Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Prominent fingertip pads, Microretrognat...	OMIM:229850
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint dislocation, Generalized joint laxity, High palate, Long philtrum, Microretrognathia, Joint...	OMIM:601776
Pallister-Hall Syndrome	Depressed nasal ridge, Abnormal lung lobation, Bifid uvula, Microretrognathia, Mesoaxial polydact...	ORPHA:672
Cadds	Intrauterine growth retardation, Short nose, Micrognathia	ORPHA:369942
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood, In...	OMIM:610505
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Congenital hip dislocation, High, narrow palate, Clinodactyly of the 5th f...	ORPHA:373
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Spontaneous, recurrent epistaxis, Pancytopenia, Mitral valve calcification, Corneal ...	ORPHA:2072
Schisis Association	Encephalocele, Spina bifida, Micromelia, Anencephaly, Tracheoesophageal fistula, Cleft palate, Un...	ORPHA:63862
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Flat nasal alae, Unilateral cleft ...	OMIM:610828
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hyperthyroidism, Osteomyelitis, Abnormality of the endocrine system, Abnormal blood ion concentra...	ORPHA:37042
Oculocerebral Hypopigmentation Syndrome, Cross Type	Depressed nasal bridge, Anteverted nares, Arachnodactyly, Short stature, Abnormal thumb morpholog...	ORPHA:2719
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Peters Plus Syndrome	Micromelia, Micrognathia, Abnormal pulmonary vein morphology, Widely spaced teeth, Clinodactyly o...	ORPHA:709
3-Methylglutaconic Aciduria Type 7	Growth delay, Respiratory failure, Pneumothorax	ORPHA:445038
Choreoacanthocytosis	Arthritis, Temporomandibular joint crepitus, Protruding tongue	ORPHA:2388
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Microretrognathia, Mandibular prognathia, Aganglionic megacolon, Tapered finger, Wide nasal bridg...	OMIM:613603
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxi...	OMIM:263520
Cat Eye Syndrome	Ventricular septal defect, Patent ductus arteriosus, Biliary atresia, Hypoplastic left heart, Tot...	OMIM:115470
Aspartylglucosaminuria	Mandibular prognathia, Recurrent respiratory infections, Abnormal morphology of ulna, Abnormality...	ORPHA:93
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Erosion of oral mucosa, Abnormal oral mucosa morphology, Abnormal fingertip...	ORPHA:79404
Pterygium Colli, Isolated	Short nose	OMIM:177990
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Facioscapulohumeral Muscular Dystrophy 1	Restrictive ventilatory defect, Tongue atrophy	OMIM:158900
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Atrial septal defect, Hypoplastic tricuspid valve, Double outlet left ventric...	OMIM:600001
Auriculocondylar Syndrome 3	Glossoptosis, Retrognathia, Bifid uvula, Micrognathia	OMIM:615706
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, C...	OMIM:612541
Primary Fanconi Renotubular Syndrome	Hypouricemia, Osteomalacia, Bicarbonaturia, Hypophosphatemia, Increased susceptibility to fractur...	ORPHA:3337
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Distal Deletion 9P	Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, Short nose, B...	ORPHA:1642
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Anteverted nares, Dental crow...	ORPHA:261323
Double Outlet Right Ventricle	Hypoparathyroidism, Aplasia/Hypoplasia of the thymus, Hypocalcemia	ORPHA:3426
Hereditary Fructose Intolerance	Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Vacterl With Hydrocephalus	Absence of the sacrum, Spina bifida, Micrognathia, Esophageal atresia, Hypoplasia of the radius, ...	ORPHA:3412
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Respiratory failure, Paroxysmal dyspnea	ORPHA:444013
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose, Short stature	ORPHA:289266
Aymé-Gripp Syndrome	Thin upper lip vermilion, Prominent metopic ridge, Depressed nasal bridge, Rocker bottom foot, Cr...	ORPHA:1272
Khan-Khan-Katsanis Syndrome	Tented upper lip vermilion, Short stature, Delayed closure of the anterior fontanelle, Postaxial ...	OMIM:618460
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Micrognathia, Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Inflammation of t...	OMIM:619708
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure, Hemolytic anemia, Edema	OMIM:177000
Eiken Syndrome	Short stature, Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular...	OMIM:600002
Cog1-Cdg	Osteopenia, Thin upper lip vermilion, Rhizomelia, Coxa valga, Micrognathia, Postnatal growth reta...	ORPHA:263508
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira...	OMIM:615512
Burning Mouth Syndrome	Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost...	ORPHA:353253
Fraser Syndrome 2	Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Rectal atresia, Cutaneous syndactyl...	OMIM:617666
Jaberi-Elahi Syndrome	Depressed nasal bridge, Joint stiffness, Triangular mouth, Talipes equinovarus, Hand clenching, S...	OMIM:617988
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Respiratory failure requiring assisted ventilati...	ORPHA:1675
Livedoid Vasculopathy	Pancytopenia, Abnormal capillary morphology, Telangiectasia of the skin, Venous insufficiency, Le...	ORPHA:542643
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Growth delay, Respiratory failure, Osteopetrosis	ORPHA:3240
Dend Syndrome	Prominent metopic ridge, Anteverted nares, Downturned corners of mouth, Long philtrum, Clinodacty...	ORPHA:79134
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Wide nose, Anteverted nares, Short stature, Abnormal large intestine morpho...	ORPHA:109
Esophageal Atresia	Respiratory distress, Recurrent respiratory infections, Barrett esophagus, Choanal atresia, Intes...	ORPHA:1199
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Spinal dysraphism, Lipoma, Nephroblastoma, Venous malformation	OMIM:612918
Hemihyperplasia-Multiple Lipomatosis Syndrome	Telangiectasia of the skin, Abnormal cerebral vascular morphology, Abnormality of the lymphatic s...	ORPHA:276280
S-Adenosylhomocysteine Hydrolase Deficiency	Growth delay, Respiratory failure, Abnormality of the dentition	ORPHA:88618
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Patent ductus arteriosus, Atrial septal defect, Cholelithiasis, Do...	OMIM:614886
Rabson-Mendenhall Syndrome	Mandibular prognathia, Wide nose, Anteverted nares, Prominent nasal bridge, Dental crowding, Abno...	ORPHA:769
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy	ORPHA:216873
Rhyns Syndrome	Osteopenia, Radial bowing, Short stature, Osteoporosis, Short long bone, Short femoral neck, Brac...	OMIM:602152
Reactive Arthritis	Osteomyelitis, Abnormal pleura morphology, Joint stiffness, Cartilage destruction, Respiratory in...	ORPHA:29207
Warburg Micro Syndrome 2	Overlapping toe, Prominent nasal bridge, Postnatal growth retardation, Flexion contracture, Short...	OMIM:614225
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Narrow mouth, Orofacial cleft, Joi...	ORPHA:77301
Deafness-Craniofacial Syndrome	Short lingual frenulum, Abnormality of the dentition, Underdeveloped nasal alae, Wide nasal bridg...	ORPHA:3241
Moderate Hemophilia A	Arthropathy, Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joi...	ORPHA:169805
Congenital Diaphragmatic Hernia	Respiratory distress, Pulmonary hypoplasia, Intestinal malrotation, Hypoxemia	ORPHA:2140
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Short nose	OMIM:611936
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Arachnodactyly, Overlapping toe, Underdeveloped nasal alae, Micrognathia, C...	ORPHA:83617
Leigh Syndrome	Multiple joint contractures, Growth delay, Respiratory failure, Intrauterine growth retardation, ...	ORPHA:506
Tetrasomy 9P	Joint dislocation, Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Short...	ORPHA:3310
White-Kernohan Syndrome	Joint laxity, Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Antev...	OMIM:619426
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Osteopenia, Calcinosis, Hypokalemia, Hypocalcemia	OMIM:617913
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Williams Syndrome	Osteopenia, Joint laxity, Increased bone mineral density, Hypogonadotropic hypogonadism, Hypercal...	ORPHA:904
Bacterial Toxic-Shock Syndrome	Osteomyelitis, Elevated circulating creatine kinase concentration, Elevated circulating creatinin...	ORPHA:36234
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia, Thyroid lymphangiectasia	OMIM:235255
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Cardiofaciocutaneous Syndrome	Depressed nasal bridge, Anteverted nares, Abnormal morphology of ulna, Short stature, Submucous c...	ORPHA:1340
Monosomy 9P	Depressed nasal bridge, Anteverted nares, Choanal atresia, Abnormality of the dentition, Proximal...	ORPHA:261112
Bazex-Dupre-Christol Syndrome	Narrow nasal ridge, Underdeveloped nasal alae, Furrowed tongue, Joint hypermobility, Low hanging ...	OMIM:301845
Homozygous Familial Hypercholesterolemia	Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A...	ORPHA:391665
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Short stature, Bifid nasal tip, Bilateral cleft lip and palate, High pa...	OMIM:618874
Pallister-Killian Syndrome	Congenital hip dislocation, Tented upper lip vermilion, Micrognathia, Flexion contracture, Anteri...	OMIM:601803
Cronkhite-Canada Syndrome	Intestinal polyposis, Malabsorption, Tapered finger, Hypogeusia, Furrowed tongue, Hamartomatous p...	ORPHA:2930
Mitochondrial Trifunctional Protein Deficiency	Respiratory failure, Respiratory insufficiency, Equinus calcaneus	ORPHA:746
Cystinosis, Nephropathic	Hyponatremia, Diabetes mellitus, Rickets, Reduced blood urea nitrogen, Hypophosphatemia, Hypokale...	OMIM:219800
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency	OMIM:613845
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Bifid nose, Midline defect of the no...	OMIM:229400
Renal-Hepatic-Pancreatic Dysplasia 2	Abnormal lung lobation, Femoral bowing, Stillbirth, Pulmonary hypoplasia, Talipes equinovarus	OMIM:615415
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Median cleft lip, Depressed nasal bridge, Short stature, Accessory oral fre...	OMIM:617088
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Spina bifida, Cyst of the ductus choledochus, Patent ductus arteriosus, Coarctation of aorta, Atr...	OMIM:619480
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Abnormal heart valve morphology, Cholelithiasis, Autoimmune thrombocytopenia, Hyper...	ORPHA:77293
Hypercholanemia, Familial 1	Fat malabsorption, Rickets, Steatorrhea	OMIM:607748
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Bulbous nose, Postaxial h...	ORPHA:2752
Charcot-Marie-Tooth Disease, Type 4C	Talipes equinovarus, Hammertoe, Tongue atrophy, Tongue fasciculations	OMIM:601596
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Micrognathia, Bilateral cleft lip and palate, Clinodactyly of the 5th fin...	ORPHA:2001
Trichothiodystrophy 4, Nonphotosensitive	Anteverted nares, Hypoplasia of teeth, Growth delay, Short nose, Retrognathia	OMIM:234050
Becker Nevus Syndrome	Abnormal tibia morphology, Spina bifida occulta, Micromelia	ORPHA:64755
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, M...	ORPHA:555877
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia	OMIM:607143
Neurodegeneration With Brain Iron Accumulation 2A	Short nose, Micrognathia	OMIM:256600
Brain Malformations With Or Without Urinary Tract Defects	Thin upper lip vermilion, Anteverted nares, Metopic synostosis, Narrow mouth, Short nose	OMIM:613735
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Short stature, Gout, Wide mouth, High palate, Death in childhood, Short n...	OMIM:300661
Fraser Syndrome	Cleft ala nasi, Dental crowding, Abnormal lung lobation, Orofacial cleft, High palate, Encephaloc...	ORPHA:2052
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous cleft hard palate, Posteriorly ...	OMIM:192445
Infantile Krabbe Disease	Ankle clonus, Respiratory failure, Respiratory distress	ORPHA:206436
Nestor-Guillermo Progeria Syndrome	Prominent superficial veins, Left atrial enlargement, Right atrial enlargement, Right bundle bran...	OMIM:614008
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma	ORPHA:438274
Pearson Syndrome	Hypoparathyroidism, Diabetes mellitus, Decreased response to growth hormone stimulation test, Hyp...	ORPHA:699
Slc39A8-Cdg	Osteopenia, Sudden episodic apnea, Short stature, Craniosynostosis, Elbow flexion contracture, Kn...	ORPHA:468699
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Cholelithiasis, Iron deficiency anemia	OMIM:300752
Myopathy, Myofibrillar, 7	Tongue atrophy, Multiple joint contractures, Limited hip extension, Shoulder flexion contracture,...	OMIM:617114
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Diabetes mellitus, Parathyroid hypoplasia, Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Mal...	OMIM:122880
Hypoglossia-Hypodactylia	Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia, Retrognathia	OMIM:103300
Ramos-Arroyo Syndrome	Respiratory distress, Severe short stature, Anteverted nares, Depressed nasal bridge, Aganglionic...	ORPHA:1051
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, An...	ORPHA:1335
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint laxity, Thin upper lip vermilion, Central apnea, Progressive flexion contractures, Equinus ...	ORPHA:522077
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Hypopnea, Growth delay, Respiratory failure, Neonatal death, Respiratory...	OMIM:617248
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Hypophosphatemia	OMIM:104200
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Growth delay, Rickets	OMIM:602722
Gitelman Syndrome	Maternal diabetes, Delayed puberty, Hypermagnesemia, Gout, Diabetic ketoacidosis, Hypokalemia, Ty...	ORPHA:358
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Micrognathia, Downturned corners of mouth, Choanal stenosis, Intrauterine growth ...	OMIM:620186
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa m...	OMIM:305100
Nocardiosis	Respiratory distress, Osteomyelitis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, P...	ORPHA:31204
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Vulval varicose vein, Varicose veins, Syncope, Renal artery...	ORPHA:71273
Boutonneuse Fever	Respiratory failure	ORPHA:83313
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Familial Adenomatous Polyposis	Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Congenital hypertrophy of retin...	ORPHA:733
Distal Deletion 12Q	Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Cl...	ORPHA:96149
Macrocephaly/Autism Syndrome	Joint laxity, Depressed nasal bridge, High palate, Long philtrum, Short nose	OMIM:605309
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Thin upper lip vermilion, Toe clinodactyly, Joint laxity, Sandal gap, Broa...	OMIM:620330
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Long nose, Downturned corners of mouth, High palate, Clinodactyly of the 5th finger, Anteverted n...	OMIM:619522
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short stature, Cleft soft palate, Intestinal malrotation, Flexion contracture, Genu valgum, Downt...	OMIM:619321
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue...	ORPHA:1839
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Varicose veins, Venous malformation, Lymphedema	OMIM:613089
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Wide nose, Severe short stature, Abnormal dental enamel morphology, Microgn...	ORPHA:2556
Generalized Pseudohypoaldosteronism Type 1	Recurrent tonsillitis, Dehydration, Hypovolemic shock, Cholelithiasis, Arrhythmia	ORPHA:171876
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Hydro...	ORPHA:288
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h...	OMIM:235700
Restrictive Dermopathy	Osteopenia, Natal tooth, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the clavicl...	ORPHA:1662
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy, Talipes equinovarus	OMIM:616155
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Conjunctival icterus, Increased mean corpu...	OMIM:194380
Williams-Beuren Syndrome	Osteopenia, Joint laxity, Diabetes mellitus, Hypercalcemia, Flexion contracture, Osteoporosis, Ea...	OMIM:194050
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Short stature, Camptodactyly of finger, Premature loss of primary teeth, Abnor...	ORPHA:2907
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Dental crowding, Cutaneous finger syndactyly, Ch...	OMIM:219000
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular...	ORPHA:70591
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure, Short stature	ORPHA:280210
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Cleft lip, Pulmonary artery stenosis, Cleft palate, Bilateral lung agenesis, Pulmonary hypoplasia...	OMIM:611812
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Prominent nasal bridge, Short toe, Wide nasal bridge, Orofacial cleft, Thin ve...	ORPHA:1519
Renal And Mullerian Duct Hypoplasia	Severe postnatal growth retardation, Short nose, Micrognathia	OMIM:266810
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Hypocalcemia, Osteopetrosis,...	ORPHA:667
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Chronic active hepatitis, Cataract, Asplenia, Keratoconjunctivitis, Perifovea...	OMIM:240300
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Apnea, Respiratory insufficiency, Growth delay, Respiratory failure, Tongue fas...	OMIM:252010
Hyperbiliverdinemia	Cholelithiasis, Decreased liver function, Cholestasis	OMIM:614156
Okamoto Syndrome	Exaggerated median tongue furrow, Prominent metopic ridge, Tented upper lip vermilion, Anteverted...	ORPHA:2729
Malignant Atrophic Papulosis	Intestinal perforation, Intestinal fistula, Pleural effusion, Respiratory failure	ORPHA:679
Poliomyelitis	Paralytic ileus, Respiratory failure requiring assisted ventilation, Respiratory failure, Stiff neck	ORPHA:2912
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Restri...	ORPHA:822
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets, Short stature	OMIM:611590
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory failure, Respiratory insufficiency	OMIM:609015
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Short stature, Prominent nasal bridge, Cleft soft palate, Underdeveloped nasal ala...	ORPHA:268261
Menkes Disease	Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Ab...	ORPHA:565
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue atrophy, Tongue fasciculations, Respiratory insufficiency	OMIM:620285
Listeriosis	Respiratory distress, Stiff neck, Osteomyelitis, Pneumonia, Miscarriage, Respiratory failure, Sep...	ORPHA:533
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Short femur, Pneumothorax, Talipes equinovarus, Pulmonary hypoplasia, Short...	OMIM:620306
Sarcoidosis	Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Abnormality of the adrenal glands, Hypothyroi...	ORPHA:797
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Short stature, Brachydactyly	OMIM:613819
Cerebrofaciothoracic Dysplasia	Wide nose, Short stature, Cleft upper lip, Cleft palate, Wide mouth, Short nose, Broad philtrum	ORPHA:1394
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Finger syndactyly, Neonatal respiratory distress, Micrognathia, Bulbous nose, 2...	OMIM:620025
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Recurrent respiratory infections, Joint stiffness, Flexion contracture, Str...	ORPHA:505248
Genitopatellar Syndrome	Congenital hip dislocation, Prominent nose, Micrognathia, Knee flexion contracture, Anteriorly pl...	OMIM:606170
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Internally rotat...	OMIM:619503
Cerebrotendinous Xanthomatosis	Optic disc pallor, Precocious atherosclerosis, Optic neuropathy, Abnormal retinal vascular morpho...	ORPHA:909
Renal Agenesis, Bilateral	Non-midline cleft lip, Depressed nasal ridge, Tracheoesophageal fistula, Cleft palate, Sirenomeli...	ORPHA:1848
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia	ORPHA:1655
Molybdenum Cofactor Deficiency, Complementation Group B	Growth delay, Thick vermilion border, Long philtrum, Neonatal death, Short nose	OMIM:252160
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Anteverted nares, Choanal atresia, Short stature, Micrognathia, Cleft lip, Bulbous no...	OMIM:616975
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Cimdag Syndrome	Hepatomegaly, Retinal dystrophy, Microvesicular hepatic steatosis, Developmental cataract, Cholel...	OMIM:619273
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi...	ORPHA:740
Tetraamelia Syndrome 1	Choanal atresia, Cleft upper lip, Micrognathia, Single naris, Peripheral pulmonary vessel aplasia...	OMIM:273395
Serkal Syndrome	Growth delay, Malrotation of small bowel, Pulmonary hypoplasia, Orofacial cleft	ORPHA:139466
Congenital Bile Acid Synthesis Defect Type 2	Postnatal growth retardation, Fat malabsorption, Rickets, Steatorrhea	ORPHA:79303
Familial Cerebral Cavernous Malformation	Retinal cavernous angioma, Cerebral hemorrhage, Neuroma, Choroidal hemangioma, Meningioma, Hemang...	ORPHA:221061
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Pericardial And Diaphragmatic Defect	Neonatal respiratory distress, Intestinal malrotation, Hypoxemia, Pulmonary hypoplasia, Pulmonary...	ORPHA:2847
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis	OMIM:605479
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Alkaptonuria	Joint dislocation, Abnormality of the nose, Cartilage destruction, Joint stiffness, Osteoarthriti...	ORPHA:56
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Severe short stature, Micromelia, Short phalanx of finger, Brachydactyly	OMIM:600092
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o...	ORPHA:649
Renal Tubular Dysgenesis	Pulmonary hypoplasia, Respiratory insufficiency, Widely patent fontanelles and sutures	OMIM:267430
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion...	ORPHA:340
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Ventricular septal defect, Polyhydramnios, Splenomegaly, Patent ductus arteriosus, ...	OMIM:618268
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High, narrow palate, Short philtrum, High palate, Joint laxity, Anteverted nares, Wide nasal brid...	OMIM:619475
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Giant Cell Arteritis	Epistaxis, Abnormal pleura morphology, Joint stiffness, Recurrent pharyngitis, Arthritis, Cough, ...	ORPHA:397
Toriello-Lacassie-Droste Syndrome	Aganglionic megacolon, Anteverted nares, Growth delay, Short palm, Short nose, Brachydactyly	ORPHA:3339
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Matthew-Wood Syndrome	Intrauterine growth retardation, Abnormal lung morphology, Pulmonary hypoplasia, Duodenal stenosis	ORPHA:2470
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Renal Hypodysplasia/Aplasia 1	Retrognathia, Pulmonary hypoplasia, Talipes equinovarus	OMIM:191830
Abetalipoproteinemia	Osteopenia, Respiratory failure, Talipes equinovarus, Steatorrhea, Fat malabsorption	ORPHA:14
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Sotos Syndrome	Joint laxity, Hip contracture, Hypercalcemia, Ankle flexion contracture, Craniosynostosis, Bilate...	ORPHA:821
Foix-Alajouanine Syndrome	Myelopathy, Cervical myelopathy, Arteriovenous fistula, Venous malformation	ORPHA:79093
Lowe Oculocerebrorenal Syndrome	Short stature, Camptodactyly of finger, Osteomalacia, Wrist swelling, Postnatal growth retardatio...	OMIM:309000
Velocardiofacial Syndrome	Hypoparathyroidism, Hypocalcemia	OMIM:192430
Orofaciodigital Syndrome Type 14	Microretrognathia, Broad hallux, Deviation of the hallux, Accessory oral frenulum, Hamartoma of t...	ORPHA:434179
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Optic atrophy, Macular hypoplasia, Chorioretinal coloboma, Atrial septal defect, Iris coloboma, R...	OMIM:615219
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys...	OMIM:613795
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Diabetes mellitus, Hyperkalemia, Hypocalcemia, Septic arthritis	ORPHA:544482
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra...	OMIM:232800
Cerebrotendinous Xanthomatosis	Optic disc pallor, Cataract, Angina pectoris, Myocardial infarction, Cholelithiasis	OMIM:213700
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Sialuria	Elevated hepatic transaminase, Hepatomegaly, Cholelithiasis, Hepatosplenomegaly	ORPHA:3166
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis, Pulmonary arteri...	ORPHA:2396
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia	OMIM:229600
Bile Acid Synthesis Defect, Congenital, 1	Fat malabsorption, Rickets, Steatorrhea	OMIM:607765
Viss Syndrome	Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, High palate, Broa...	OMIM:619472
Arteriovenous Malformations Of The Brain	Cerebral arteriovenous malformation	OMIM:108010
8P Inverted Duplication/Deletion Syndrome	Dextrocardia, Cryptorchidism, Abnormal heart morphology, Aplasia/Hypoplasia of the gallbladder, T...	ORPHA:96092
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures, Short stature	OMIM:268315
Cowden Syndrome 5	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly...	OMIM:615108
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Patent urachus, Death in childhood	OMIM:618252
Orofaciodigital Syndrome Xiv	Microretrognathia, Occipital encephalocele, Natal tooth, Broad hallux, Hamartoma of tongue, Micro...	OMIM:615948
Psoriasis 14, Pustular	Geographic tongue, Polyarticular arthritis, Oligoarthritis, Furrowed tongue	OMIM:614204
Isotretinoin-Like Syndrome	Hypocalcemia	ORPHA:2306
1P21.3 Microdeletion Syndrome	Micrognathia, Broad nasal tip, Wide mouth, Short nose, Joint hypermobility	ORPHA:293948
Lelis Syndrome	Carious teeth, Mandibular prognathia, Hypodontia, Furrowed tongue	ORPHA:140936
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Pancreatic Colipase Deficiency	Megaloblastic anemia, Cholelithiasis, Exocrine pancreatic insufficiency	ORPHA:309108
Branchiooculofacial Syndrome	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Depressed nasal bridge...	OMIM:113620
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Cowden Syndrome 6	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly...	OMIM:615109
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf...	OMIM:611881
Osteopetrosis With Renal Tubular Acidosis	Recurrent fractures, Elevated circulating creatine kinase concentration, Osteopetrosis, Hypocalce...	ORPHA:2785
Noonan Syndrome 3	Hypoplastic nasal bridge, Anteverted nares, Short stature, Sagittal craniosynostosis, High palate...	OMIM:609942
Distal Renal Tubular Acidosis	Short stature, Osteomalacia, Respiratory insufficiency due to muscle weakness, Rickets, Increased...	ORPHA:18
Steinert Myotonic Dystrophy	Respiratory failure requiring assisted ventilation, Tented upper lip vermilion, Intestinal pseudo...	ORPHA:273
Charcot-Marie-Tooth Disease Type 4C	Hypoventilation, Tongue atrophy, Respiratory insufficiency, Hip dysplasia, Hammertoe, Tongue fasc...	ORPHA:99949
Plummer-Vinson Syndrome	Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis	ORPHA:54028
Meacham Syndrome	Death in infancy, Partial anomalous pulmonary venous return, Scimitar anomaly, Stillbirth, Cardia...	OMIM:608978
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis	ORPHA:2221
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cataract, Cyst of the ductus choledochus, Patent ductus arteriosus, Cardiomyopathy, Neoplasm, Ast...	ORPHA:480880
Methylmalonic Acidemia With Homocystinuria Type Cblf	Cleft palate, Growth delay, Stomatitis, Intrauterine growth retardation, Glossitis	ORPHA:79284
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
Wilson Disease	Osteomalacia, Joint hypermobility, Osteoarthritis, Esophageal varix, Osteoporosis, Hyposmia, Chon...	OMIM:277900
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Rickets, Osteoporosis, Growth delay, Colitis, Steatorrhea	ORPHA:309031
Hennekam Syndrome	Camptodactyly of finger, Hypocalcemia, Craniosynostosis	ORPHA:2136
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Aplasia of the nasal bone, Jejunal atresia, Ileal atresia, Micrognathia, Joint stiffn...	OMIM:618820
Cranioectodermal Dysplasia 1	Joint laxity, Osteoporosis, Hypocalcemia, Sagittal craniosynostosis	OMIM:218330
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Erythematous oral mucosa, Recurrent pneumonia, Furrowed tongue, Fibrocystic lung disea...	OMIM:158310
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Osteomyelitis, Duodenal ulcer, Gastritis, Osteomalacia, Pneumonia, Bronchitis, O...	OMIM:619381
Cowden Syndrome 1	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly...	OMIM:158350
Niemann-Pick Disease Type C	Abnormal lung morphology, Respiratory insufficiency, Pulmonary infiltrates, Respiratory failure, ...	ORPHA:646
Trichorhinophalangeal Syndrome, Type Ii	Osteochondroma, Internal carotid artery dissection, Bicuspid aortic valve, Cerebral arteriovenous...	OMIM:150230
Bohring-Opitz Syndrome	Retinal atrophy, Nephroblastoma, Cardiomegaly, Medulloblastoma, Optic atrophy, Abnormal cardiac s...	ORPHA:97297
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Short stature, Tracheoesophageal fistula, High palate, Talipes equinova...	OMIM:277380
Molybdenum Cofactor Deficiency, Complementation Group A	Growth delay, Short nose, Thick vermilion border, Long philtrum	OMIM:252150
Hartnup Disease	Short stature, Glossitis, Gingivitis, Malabsorption	ORPHA:2116
Meckel Syndrome	Encephalocele, Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Micrognathia, Preaxial...	ORPHA:564
Tuberous Sclerosis Complex	Respiratory distress, Respiratory failure, Respiratory tract infection, Pulmonary lymphangiomyoma...	ORPHA:805
Acrodermatitis Enteropathica	Short stature, Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis	ORPHA:37
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Short stature, Abnormality of the dentition, Carious tee...	ORPHA:158668
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany, Hypothyroidism, Thyroiditis, Aplasia of the thymus	ORPHA:83471
Oligomeganephronia	Branchial cyst, Pulmonary venous occlusion, Pulmonary hypoplasia, Micrognathia	ORPHA:2260
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology	ORPHA:293807
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Neonatal death, Esophageal varix, Pulmonary hypoplasia	OMIM:263200
Charcot-Marie-Tooth Disease Type 4B2	Difficulty in tongue movements, Tongue atrophy, Reduced vital capacity, Respiratory insufficiency	ORPHA:99956
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Myopic astigmatism, Hepatosplenomegaly, Cholecystitis, Umbilical hernia, Cholelithi...	OMIM:301066
Hereditary Folate Malabsorption	Recurrent respiratory infections, Glossitis, Cheilitis	ORPHA:90045
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary embolism, Growth delay, Pulmonary arterial hypertension, Stomatit...	ORPHA:79282
Mckusick-Kaufman Syndrome	Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Postax...	OMIM:236700
Spinocerebellar Ataxia Type 36	Tongue atrophy, Tongue fasciculations	ORPHA:276198
Charcot-Marie-Tooth Disease Type 1F	Tongue atrophy, Flexion contracture of finger	ORPHA:101085
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Missing ribs, Short ribs, Pulmonary hypoplasia, Anal atresia	OMIM:271520
Porphyria, Congenital Erythropoietic	Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Corneal scarring, Conjunctivitis, Choleli...	OMIM:263700
Spinocerebellar Ataxia 36	Tongue atrophy, Tongue fasciculations	OMIM:614153
Glomuvenous Malformation	Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation	ORPHA:83454
Pagod Syndrome	Encephalocele, Death in infancy, Short stature, Spina bifida, Meningocele, Pulmonary artery hypop...	ORPHA:991
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Elbow flexion contracture, Furrowed tongue, Knee flexion contracture, Microdontia, Oral leukoplakia	OMIM:148210
Generalized Arterial Calcification Of Infancy	Respiratory distress, Abnormality of the knee, Calcification of the auricular cartilage, Osteomal...	ORPHA:51608
Melkersson-Rosenthal Syndrome	Macroglossia, Cheilitis, Furrowed tongue	ORPHA:2483
Penile Agenesis	Depressed nasal bridge, Rectal fistula, Tracheoesophageal fistula, Bilateral lung agenesis, Bilat...	ORPHA:49
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Tongue atrophy, Respiratory insufficiency due to muscle weakness, Joint contracture of the hand, ...	ORPHA:466768
Microphthalmia, Syndromic 1	Dental crowding, High, narrow palate, Rectal prolapse, Orofacial cleft, High palate, Prominent fi...	OMIM:309800
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Craniosynostosis, Oral mucosal blisters, Growth delay, Smooth tongue, Enamel hypoplasia	ORPHA:79396
Thoracoabdominal Syndrome	Anencephaly, Pulmonary hypoplasia, Cleft palate, Cleft upper lip	OMIM:313850
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Venous insufficiency, Ascending tubular aorta aneurysm, Keratoconjunctivitis sicca, ...	ORPHA:285
Agel Amyloidosis	Respiratory tract infection, Tongue atrophy, Xerostomia	ORPHA:85448
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary...	OMIM:257980
Lipodystrophy, Familial Partial, Type 7	Spontaneous pneumothorax, Narrow nasal ridge, Pulmonary arteriovenous malformation, Narrow mouth,...	OMIM:606721
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Ileal atresia, Elevated pulmonary artery pres...	OMIM:619351
Cardiac-Urogenital Syndrome	Intestinal malrotation, Partial anomalous pulmonary venous return, Wide nasal bridge, 2-3 toe syn...	OMIM:618280
Microsporidiosis	Sinusitis, Osteomyelitis, Pneumonia, Bronchitis, Rhinitis, Bronchiolitis, Glossitis	ORPHA:2552
Metachromatic Leukodystrophy	Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallbladder	ORPHA:512
Cowden Syndrome	Short stature, Bone cyst, Furrowed tongue, Hamartomatous polyposis, Macroglossia, Colorectal poly...	ORPHA:201
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Aortopulmonary window, Pulmonary hypoplasia, Pulmonary artery a...	ORPHA:99050
Dpagt1-Cdg	Arachnodactyly, Flexion contracture, Osteoporosis, Pulmonary hypoplasia, Camptodactyly, Clinodactyly	ORPHA:86309
Charge Syndrome	Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:214800
Kawasaki Disease	Recurrent pharyngitis, Abnormal pulmonary interstitial morphology, Cheilitis, Arthritis, Glossitis	ORPHA:2331
Renal Agenesis	Pulmonary hypoplasia, Talipes equinovarus, Anal atresia	ORPHA:411709
Craniofacial Microsomia 1	Occipital encephalocele, Block vertebrae, Cleft upper lip, Micrognathia, Hypoplasia of the maxill...	OMIM:164210
Johanson-Blizzard Syndrome	Joint laxity, Diabetes mellitus, Increased VLDL cholesterol concentration, Conjugated hyperbiliru...	OMIM:243800
Imerslund-Gräsbeck Syndrome	Glossitis, Angular cheilitis	ORPHA:35858
Peroxisome Biogenesis Disorder 4B	Short nose	OMIM:614863
Plague	Respiratory distress, Chapped lip, Abnormality of the elbow, Enterocolitis, Acute infectious pneu...	ORPHA:707
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:99125
Pachyonychia Congenita 3	Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue	OMIM:615726
Carney Complex	Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Neoplasm of the pharynx, Ab...	ORPHA:1359
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, 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

DSS Histology

Anti-nuclear antibody assay

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X-ray

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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