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Gene: Sirt6 MGI:1354161

Gene Summary

Name:

sirtuin 6

Synonyms:

2810449N18Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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 startle reflex	Sirt6^{tm1a(EUCOMM)Wtsi}	HET	Early adult	7.63×10^-06
increased mean corpuscular hemoglobin concentration	Sirt6^{tm1a(EUCOMM)Wtsi}	HET	Early adult	1.94×10^-05
increased circulating cholesterol level	Sirt6^{tm1a(EUCOMM)Wtsi}	HET	Early adult	9.40×10^-07

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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.

Phenotype associated images not available

Human diseases caused by Sirt6 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 Sirt6 (0 diseases)
Human diseases predicted to be associated with Sirt6 (1543 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Sirt6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ...	OMIM:212550
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hy...	ORPHA:2334
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Short Stature Due To Ghsr Deficiency	Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Delayed p...	ORPHA:314811
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Macular Degeneration, Age-Related, 13	Drusen, Macular degeneration, Choroidal neovascularization, Macular scar	OMIM:615439
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Immunodeficiency 76	Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Lymphadenopathy, Growth delay, T lymphocytop...	OMIM:619164
Oliver-Mcfarlane Syndrome	Alopecia, Central heterochromia, Small for gestational age, Hypogonadotropic hypogonadism, Long e...	OMIM:275400
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc...	ORPHA:171706
Immunodeficiency 54	Hepatomegaly, Chromosome breakage, Short stature, Postnatal growth retardation, Splenomegaly, Adr...	OMIM:609981
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Neurotrophic Keratopathy	Diabetes mellitus, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosio...	ORPHA:137596
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Mcdonough Syndrome	Mandibular prognathia, Cachexia, Micrognathia, Open bite, Cryptorchidism, Synophrys, Kyphosis, De...	ORPHA:2471
Vernal Keratoconjunctivitis	Scarring, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate keratitis, Cornea...	ORPHA:70476
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:232700
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Brittle Cornea Syndrome	Retinal detachment, Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal...	ORPHA:90354
Wagner Vitreoretinopathy	Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti...	OMIM:143200
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,...	ORPHA:791
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Inguinal hernia, Short neck, Open bite, Kyphosi...	ORPHA:61
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Ulcerative colitis, Anemia, Bloody diarrhea	OMIM:619398
Short Stature Due To Partial Ghr Deficiency	Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty	ORPHA:314802
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Camptodactyly of finger, Hypoglycemia, Micrognathia, Malar promine...	ORPHA:48431
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ...	ORPHA:411593
Hyperleucine-Isoleucinemia	Failure to thrive, Retinal degeneration	OMIM:238340
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Poliosis, Kyphosis, Dental malocclusion, Horner syndro...	OMIM:141300
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati...	OMIM:601820
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Astigmatism, ...	OMIM:616188
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Mirage Syndrome	Short stature, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Hypoglycemia, Thrombocytopenia...	OMIM:617053
Leber Congenital Amaurosis 4	Keratoconus, Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Attenuation of retinal ...	OMIM:604393
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Drusen, Reticular pigmentary degeneration, Retinal dystrophy	OMIM:267800
Macular Dystrophy, Retinal, 1, North Carolina Type	Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy	OMIM:136550
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Ceroid Lipofuscinosis, Neuronal, 3	Cataract, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular degeneration, Rod-cone d...	OMIM:204200
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy	OMIM:610048
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Cystic acne...	OMIM:604416
Cone-Rod Dystrophy 7	Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy	OMIM:603649
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, S...	OMIM:300635
Endocardial Fibroelastosis	Telecanthus, Hypoglycemia, Micrognathia, Cryptorchidism, Anterior hypopituitarism, Abnormal palat...	ORPHA:2022
Immunodeficiency, Common Variable, 11	Mucoid diarrhea, Decreased proportion of class-switched memory B cells, Growth delay, Inflammatio...	OMIM:615767
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Macular Dystrophy, Patterned, 3	Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy	OMIM:617111
Blepharophimosis-Impaired Intellectual Development Syndrome	Synophrys, Flexion contracture, Low anterior hairline, Short philtrum, Widely spaced teeth, Micro...	OMIM:619293
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Isolated Growth Hormone Deficiency, Type Ia	Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co...	OMIM:262400
Fanconi Anemia, Complementation Group D1	Acute myeloid leukemia, Short stature, Chromosomal breakage induced by crosslinking agents, T-cel...	OMIM:605724
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c...	OMIM:613731
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Uveitis, Inflammation of the la...	OMIM:614700
Morm Syndrome	Truncal obesity, Cataract, Retinal dystrophy, Retinal atrophy	ORPHA:75858
Xfe Progeroid Syndrome	Cachexia, Absence of subcutaneous fat, Optic atrophy, Corneal scarring, Hypertension, Enamel hypo...	OMIM:610965
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint laxity, Diabetes mellitus, Dorsocervical fat pad, Short neck, Osteoporosis, Low anterior ha...	OMIM:616033
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Elbow flexion contracture, Corneal scarr...	OMIM:148210
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarrin...	OMIM:256800
Trichothiodystrophy 9, Nonphotosensitive	Joint laxity, Epicanthus, Sparse eyebrow, High, narrow palate, Dental malocclusion, Nail dystroph...	OMIM:619692
Post-Traumatic Pituitary Deficiency	Osteopenia, Hypogonadotropic hypogonadism, Hypoglycemia, Decreased response to growth hormone sti...	ORPHA:95619
Mehmo Syndrome	Small for gestational age, Hypoglycemia, Decreased response to growth hormone stimulation test, C...	OMIM:300148
Mucolipidosis Iv	Corneal opacity, Optic atrophy, Hypergastrinemia, Opacification of the corneal stroma, Retinal de...	OMIM:252650
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Stargardt Disease 3	Macular dystrophy, Macular atrophy, Macular flecks	OMIM:600110
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op...	ORPHA:98957
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Colitis, Min...	OMIM:617006
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Shallow anterior chamber, Macular atrophy, Retinal degeneration	OMIM:267760
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o...	OMIM:600059
Doyne Honeycomb Retinal Dystrophy	Reticular pigmentary degeneration, Retinal dystrophy	OMIM:126600
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Pituitary Hormone Deficiency, Combined, 4	Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin stimulation test, Adren...	OMIM:262700
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C...	OMIM:619802
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
3-Methylglutaconic Aciduria Type 1	Failure to thrive, Hypoglycemia	ORPHA:67046
Macular Dystrophy, Vitelliform, 2	Macular dystrophy, Cystoid macular degeneration, Subretinal fluid	OMIM:153700
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Short neck, Micrognathia, Synophrys, Low anterior hairline, Downturned corners of mouth, Oligodon...	ORPHA:391408
Ck Syndrome	Epicanthus, Dental crowding, Hyperlordosis, Almond-shaped palpebral fissure, Kyphosis, Micrognath...	OMIM:300831
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Pigme...	ORPHA:3363
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Villous atrophy, Skin rash, Short stature, Feeding difficulties in infancy, Splenom...	OMIM:616050
Craniosynostosis 3	Sagittal craniosynostosis, Dental malocclusion, Low anterior hairline, Left unicoronal synostosis...	OMIM:615314
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Chronic diarrhea, Recurrent pneumonia, Monocytosis, Inflammation of t...	OMIM:619281
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den...	OMIM:614669
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Dyskeratosis Congenita, Autosomal Recessive 8	Sparse scalp hair, Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large inte...	OMIM:620133
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Cataract, Obesity, Truncal obesity, Astigmatism, Hypergl...	OMIM:615986
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resis...	OMIM:262190
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization	OMIM:616118
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:615703
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Thoracic scoliosis, Multiple joint contractures, Hypergonadotropic hypogonadism, Smal...	ORPHA:2959
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Rubinstein-Taybi Syndrome 2	Epicanthus, Highly arched eyebrow, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, ...	OMIM:613684
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Bardet-Biedl Syndrome 2	Diabetes mellitus, Dilated cardiomyopathy, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal deg...	OMIM:615981
Short Syndrome	Delayed eruption of teeth, Joint laxity, Inguinal hernia, Telecanthus, Small for gestational age,...	OMIM:269880
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Amelogenesis Imperfecta	Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ...	ORPHA:88661
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Cataract, Flexion contracture, Corneal scarring, Atrophic scars, Conjunctivitis, Nail d...	OMIM:226600
Neonatal Hemochromatosis	Blepharophimosis, Hypoglycemia, Micrognathia	ORPHA:446
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Large ...	ORPHA:324575
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Irregular vertebral endplates, High palate, Amelogenesis imp...	OMIM:618363
Retinitis Pigmentosa 31	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:609923
Cone-Rod Dystrophy 22	Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ...	OMIM:619531
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Osteopenia, Joint laxity, Camptodactyly of finger, Kyphoscoliosis, Cig...	OMIM:612350
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ...	OMIM:611040
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal pigment epithelial atrophy	OMIM:608850
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hypoglycemia, Hyperinsulinemia	OMIM:606528
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of ...	OMIM:204000
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:609016
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Short stature, Thrombocytopenia, Chromosomal breakage induc...	OMIM:616435
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Sacral dimple, Epicanthus, Telecanthus, Camptodactyly of finger, Highly ar...	ORPHA:1327
Leber Congenital Amaurosis 6	Keratoconus, Cataract, Attenuation of retinal blood vessels	OMIM:613826
Potocki-Lupski Syndrome	Mandibular prognathia, Small for gestational age, Dental crowding, Micrognathia, Hypothyroidism, ...	OMIM:610883
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Brittle Cornea Syndrome 2	Keratoconus, Inguinal hernia, Flat cornea, Sclerocornea, Keratoglobus, Umbilical hernia, Decrease...	OMIM:614170
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Colitis, Hemophagocytosis, R...	OMIM:613101
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Corneal ulceration, Corneal scarring	OMIM:616488
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Immunodeficiency 57 With Autoinflammation	Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, T lymphocytopenia, Inflammation...	OMIM:618108
Tenorio Syndrome	Mandibular prognathia, Osteopenia, Telecanthus, Joint laxity, Hypoglycemia, Wide mouth, Macroglos...	OMIM:616260
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Cardiomyopathy, Type II diabetes mellitus, Hyperglycemia, Retinal degener...	OMIM:520000
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Hyperinsulinemia, Obesit...	ORPHA:3085
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Eczema, Absent peripheral lymph nodes in presence of infection, Feeding difficulties ...	ORPHA:98813
Pycnodysostosis	Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Micrognathia, Hy...	ORPHA:763
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo...	ORPHA:911
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Epicanthus, Small for gestational age, Kyphoscoliosis, Hyperlordosis, Micrognathia, Cryptorchidis...	OMIM:616817
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Small for gestational age, Hypoglycemia, Micrognathia, Insulin resista...	ORPHA:73272
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Broad eyebrow, Frontal upsweep of hair, Failure to thrive in infancy, Corneal scarring	OMIM:301220
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Lumbar hyperlordosis, Achilles tendon contracture, Dental malocclusion,...	OMIM:619719
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration	OMIM:180020
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn...	OMIM:270200
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ...	OMIM:616108
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex, Microcornea, Iris coloboma	OMIM:615147
Combined Oxidative Phosphorylation Deficiency 47	Hypoglycemia, Short neck, Cryptorchidism, Platyspondyly, Long philtrum, Failure to thrive, Ptosis	OMIM:618958
Autoinflammation With Arthritis And Dyskeratosis	Thyroiditis, Keratoconjunctivitis sicca, Punctate keratitis, Failure to thrive, Corneal neovascul...	OMIM:617388
Immunodeficiency 70	Celiac disease, Colitis, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of CD4-posi...	OMIM:618969
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma...	OMIM:614500
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Decrea...	OMIM:618394
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Ceroid Lipofuscinosis, Neuronal, 6A	Retinal degeneration	OMIM:601780
Bone Marrow Failure Syndrome 3	Aplastic anemia, Pancreatic steatosis, Reduced bone mineral density, Hernia, Neutropenia, Sparse ...	OMIM:617052
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ...	OMIM:614292
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Disproportionate short stature,...	ORPHA:40
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Dental crowding, Small for gestational age, Hypoglycemia, High palate, Decreased body weight, Neo...	ORPHA:231140
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Bardet-Biedl Syndrome 16	Rod-cone dystrophy, Hypogonadism, Obesity, Retinal degeneration	OMIM:615993
Khan-Khan-Katsanis Syndrome	Tricuspid regurgitation, Highly arched eyebrow, Trichiasis, Corneal scarring, Buphthalmos, Pigmen...	OMIM:618460
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra...	OMIM:619868
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Developmental glaucoma, Insulinoma, Multiple pancreatic beta-cell ade...	OMIM:147630
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia	OMIM:616744
Retinitis Pigmentosa Inversa With Deafness	Rod-cone dystrophy, Retinitis pigmentosa inversa	OMIM:268010
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re...	ORPHA:210110
Immunodeficiency 19	Chronic diarrhea, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Failure ...	OMIM:615617
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Failure to thrive, Hypoglycemia	OMIM:610090
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Secretory diarrhea, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Vomi...	ORPHA:37042
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Macular degeneration	OMIM:619764
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, L...	ORPHA:280356
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Oligodontia	Orofacial cleft, Agenesis of mandibular premolar, Oligodontia, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Epidermolysis Bullosa Acquisita	Diabetes mellitus, Abdominal pain, Abnormal hair morphology, Atypical scarring of skin, Inflammat...	ORPHA:46487
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration	OMIM:251700
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ...	OMIM:243150
Mody	Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di...	ORPHA:552
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Thin upper lip vermilion, Small for gestational age, Hypoglycemia, Fine hair, Upslanted palpebral...	ORPHA:231137
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Mandibular prognathia, Dental malocclusion, High palate, Arthrogryposis multiplex congenita, Ptosis	OMIM:608931
Porphyria Cutanea Tarda	Diabetes mellitus, Scarring, Corneal scarring, Hirsutism, Hypertrichosis	ORPHA:101330
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Metacarpal diaphyseal endosteal scle...	OMIM:144750
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Mandibular prognathia, Epicanthus, Dental malocclusion, High palate, Downslanted palpebral fissures	OMIM:618292
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia, Abnormality of chrom...	OMIM:600546
Ceroid Lipofuscinosis, Neuronal, 1	Macular degeneration, Flexion contracture, Optic atrophy, Retinal degeneration	OMIM:256730
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Intrauterine growth retardation, Bone marrow hypocellularity, Chrom...	OMIM:609054
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Corneal neov...	ORPHA:163934
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Palmoplantar Carcinoma, Multiple Self-Healing	Corneal neovascularization, Limbal stem cell deficiency, Nail dystrophy	OMIM:615225
Fanconi Anemia, Complementation Group S	Chromosome breakage, Short stature, Low anterior hairline, Narrow palate, Long eyelashes, Sparse ...	OMIM:617883
Kabuki Syndrome 2	Joint laxity, Natal tooth, Epicanthus, Highly arched eyebrow, Micrognathia, Lower lip pit, Dental...	OMIM:300867
Ataxia-Telangiectasia	Failure to thrive, Diabetes mellitus, Short stature, Abnormality of chromosome stability, Hypopig...	ORPHA:100
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Flexion contracture, Retinal hemorrhage, Corneal scarring, Hypertension, Bradycardia	OMIM:614653
2P21 Microdeletion Syndrome	Failure to thrive, Hypogonadism, Hypoglycemia, Long eyelashes	ORPHA:163693
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Hepatomegaly, Pso...	ORPHA:436159
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Abnormal sacroiliac joint...	ORPHA:324964
Spinocerebellar Ataxia, Autosomal Recessive 12	Optic atrophy, Retinal degeneration	OMIM:614322
Fanconi Anemia, Complementation Group G	Abnormality of chromosome stability, Growth delay, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:614082
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Postnatal growth retardation, Leukopenia, Colitis, Bone marrow hypocellulari...	OMIM:615190
Intellectual Developmental Disorder, Autosomal Recessive 39	Synophrys, Dental malocclusion, Kyphoscoliosis	OMIM:615541
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Limb joint contracture, Small for gestational age, Ac...	ORPHA:404454
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Hypoglycemia, Anterior pituit...	ORPHA:453533
Scheie Syndrome	Aortic regurgitation, Aortic valve stenosis, Corneal opacity, Retinal degeneration	OMIM:607016
Trichorhinophalangeal Syndrome, Type I	Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Ivory epiphyses of the distal ph...	OMIM:190350
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, Synophrys, High palate, Premature l...	OMIM:102500
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract	ORPHA:65
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia	ORPHA:366
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Diarrhea, T lymphocytopenia, B lympho...	OMIM:619313
Brittle Cornea Syndrome 1	Keratoconus, Atypical scarring of skin, Keratoglobus, Abnormal cornea morphology, Decreased corne...	OMIM:229200
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Trichohepatoenteric Syndrome 2	Hepatomegaly, Villous atrophy, Brittle hair, Small for gestational age, Woolly hair, Diarrhea, Ch...	OMIM:614602
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Hypoplasia of the maxilla, Elevated circulating thyroid-stimulating hormon...	OMIM:101800
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Growth delay, Pyoderma, Colitis, Cro...	OMIM:613148
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Short stature, Abscess, Eczema, Anal fissure, Perianal absc...	OMIM:618935
Nestor-Guillermo Progeria Syndrome	Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro...	OMIM:614008
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Reduced subcutaneous adipose tissue, Increased susceptibility to spontaneous sister chromatid exc...	OMIM:618097
Hyperinsulinemic Hypoglycemia, Familial, 1	Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo...	OMIM:256450
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Perit...	ORPHA:2686
Myosclerosis, Autosomal Recessive	Lumbar hyperlordosis, Short stature, Thoracolumbar scoliosis, Spinal rigidity, Neck joint contrac...	OMIM:255600
Pelvic Hypoplasia With Lower-Limb Arthrogryposis	Hip contracture, Lumbar hyperlordosis, Short stature, Congenital foot contractures, Knee flexion ...	OMIM:602484
Cone-Rod Dystrophy 11	Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy	OMIM:610381
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Mucolipidosis Type Iii	Craniofacial hyperostosis, Inguinal hernia, Short stature, Acne, Hyperlordosis, Joint stiffness, ...	ORPHA:577
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sacral dimple, Dental crowding, Hyperlordosis, Micrognathia, Kyphosis, ...	OMIM:615761
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Mitochondrial Pyruvate Carrier Deficiency	Thin upper lip vermilion, Epicanthus, Hypoglycemia, Long philtrum	OMIM:614741
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Abnormality of the dentition, Kyphosis, Dental malocclusion, Scoliosis	ORPHA:1858
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Os odontoideum, Joint laxity, Lumbar hyperlordosis, Short stature, Spondylolisthesis at L5-S1, At...	OMIM:600561
Acrootoocular Syndrome	Delayed eruption of teeth, Epicanthus, Small for gestational age, Decreased response to growth ho...	ORPHA:2980
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c...	OMIM:265000
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71526
Glycogen Storage Disease Ixa1	Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Small for gestational age, Cleft palate, Hypoglycemia	ORPHA:231147
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Necrotizing enterocolitis, Inguinal hernia, Abdominal pain, Short ne...	OMIM:616809
Ceroid Lipofuscinosis, Neuronal, 2	Retinal degeneration	OMIM:204500
Bardet-Biedl Syndrome 4	Rod-cone dystrophy, Hypogonadism, Obesity, Retinal degeneration	OMIM:615982
Ck Syndrome	Microretrognathia, Epicanthus, Lumbar hyperlordosis, Dental crowding, Kyphoscoliosis, Almond-shap...	ORPHA:251383
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence...	OMIM:616098
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Classic Galactosemia	Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ...	ORPHA:79239
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia	OMIM:615158
Mucoepithelial Dysplasia, Hereditary	Alopecia, Cataract, Keratoconjunctivitis, Melena, Coarse hair, Nail dystrophy, Opacification of t...	OMIM:158310
Metaphyseal Chondrodysplasia, Spahr Type	Abnormality of the dentition, Carious teeth, Hyperlordosis, Reduced bone mineral density, Scoliosis	ORPHA:2501
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hypoglycemia, Corneal scarring, Recurrent hypoglycemia, Corneal ulceration, Recurrent corneal ero...	OMIM:256810
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative colitis,...	OMIM:617638
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Excessive insulin response to glucagon test, Maternal diabetes, Large for gestational age, Hyperi...	ORPHA:276580
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia...	ORPHA:276608
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H...	ORPHA:293964
Best Vitelliform Macular Dystrophy	Choroideremia, Cystoid macular degeneration	ORPHA:1243
Maxillonasal Dysplasia, Binder Type	Patchy distortion of vertebrae, Vertebral clefting, Dental malocclusion	OMIM:155050
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Keratoconus 9	Keratoconus, Decreased corneal thickness	OMIM:617928
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Laron Syndrome	Delayed eruption of teeth, Hypoglycemia, Micrognathia, Abnormality of the endocrine system, Osteo...	ORPHA:633
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Villous atrophy, T lymphocytopenia, Infectious encephalitis, Short stature, Autoimmun...	ORPHA:391487
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:254516
Congenital Myopathy 16	Lumbar hyperlordosis, Micrognathia, Spinal rigidity, Flexion contracture, High palate, Scoliosis,...	OMIM:618524
Myopathy, Myofibrillar, 8	Spinal rigidity, Micrognathia, Distal joint laxity, Achilles tendon contracture, Dental malocclus...	OMIM:617258
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Telecanthus, Epicanthus, Sparse eyelashes, Dental crowding, Micrognath...	OMIM:257850
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Micrognathia, Diastema, Short neck, Dental malocclusion, Upslanted palpebral fissure, Malar flatt...	ORPHA:436245
Fanconi Anemia, Complementation Group F	Sacral dimple, Short stature, Pneumonia, Decreased response to growth hormone stimulation test, T...	OMIM:603467
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Fanconi Anemia, Complementation Group R	Radial dysplasia, Chromosomal breakage induced by crosslinking agents, Growth delay, Bone marrow ...	OMIM:617244
Immunodeficiency 40	Hepatomegaly, Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Eosinophilic granuloma, Grow...	OMIM:616433
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,...	OMIM:604367
Fanconi Anemia, Complementation Group V	Short stature, Thrombocytopenia, Chromosomal breakage induced by crosslinking agents, Bone marrow...	OMIM:617243
Isolated Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Hyperlordosis, Cryptorchidism, Osteoporosis, Scoliosis	ORPHA:408
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Growth delay, ...	OMIM:266600
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios...	OMIM:222600
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Thoracic kyphoscoliosis, Decreased response to growth hormone stimulation test, Narrow mouth, Spi...	ORPHA:436174
Lissencephaly Syndrome, Norman-Roberts Type	Intrauterine growth retardation, Hypoplastic spleen, Feeding difficulties, Dysphagia	ORPHA:89844
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, Reduced bone m...	ORPHA:3079
Combined Oxidative Phosphorylation Deficiency 34	Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulating hormone co...	OMIM:617872
Glucocorticoid Resistance, Generalized	Hypoglycemia, Irregular menstruation, Increased circulating ACTH level, Increased circulating cor...	OMIM:615962
Hamamy Syndrome	Osteopenia, Micrognathia, High palate, Sparse hair, Abnormal number of hair whorls, Hypoparathyro...	OMIM:611174
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia, Retinal degeneration	OMIM:617173
Shigellosis	Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Conjunctivitis, Vomi...	ORPHA:810
Momo Syndrome	Delayed eruption of teeth, Thick upper lip vermilion, Epicanthus, Short neck, Large for gestation...	ORPHA:2563
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Obesity, Craniosynostosis, Congenital hypothyroidism	ORPHA:88643
Kid Syndrome	Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Corneal erosion, Sparse eyebrow, Knee fl...	ORPHA:477
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Epicanthus, Telecanthus, Micrognathia, Abnormality of the dentition, Cryptorchidism, Hypothyroidi...	ORPHA:85321
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Robinow Syndrome, Autosomal Dominant 2	Thin upper lip vermilion, Sacral dimple, Dental crowding, Cleft soft palate, Kyphoscoliosis, Micr...	OMIM:616331
Cri-Du-Chat Syndrome	Microretrognathia, Inguinal hernia, Epicanthus, Small for gestational age, Short neck, Cryptorchi...	OMIM:123450
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc...	OMIM:600175
Fanconi Anemia, Complementation Group I	Short stature, Decreased response to growth hormone stimulation test, Short neck, Fused cervical ...	OMIM:609053
Beaulieu-Boycott-Innes Syndrome	Premature ovarian insufficiency, Endometriosis, Micrognathia, Carious teeth, Velopharyngeal insuf...	OMIM:613680
Keratoconus 1	Keratoconus, Astigmatism	OMIM:148300
Shashi-Pena Syndrome	Thin upper lip vermilion, Epicanthus, Hypoglycemia, Highly arched eyebrow, Kyphosis, Synophrys, O...	OMIM:617190
Schwartz-Jampel Syndrome	Short neck, Micrognathia, Low anterior hairline, High palate, Wrist flexion contracture, Generali...	ORPHA:800
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Iron defic...	OMIM:301074
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Corneal neovascu...	OMIM:278730
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Increased adipose tissue, Scoliosis	OMIM:617404
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Excessive insulin response to glucagon test, Large for gestational age, Hyperinsulinemia, Hypogly...	ORPHA:276575
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con...	OMIM:617304
Dna2-Related Mitochondrial Dna Deletion Syndrome	Congenital ptosis, Multiple joint contractures, Slender build, Hyperlordosis	ORPHA:352470
Congenital Disorder Of Glycosylation, Type Iio	Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra...	OMIM:616828
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, Short neck, Micrognathia, Generalized joint laxity, High palate, Sho...	ORPHA:251028
Cholesteryl Ester Storage Disease	Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy	OMIM:616171
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia	OMIM:612526
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Ankylosis, Dental malocclusion, Cleft palate, Mandibular condyle h...	OMIM:602483
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Hypoglycemia, Osteoporosis, Delayed puberty, Failure to thrive	ORPHA:369
Zimmermann-Laband Syndrome	Telecanthus, Joint hypermobility, Short neck, Micrognathia, Supernumerary tooth, Gingival fibroma...	ORPHA:3473
Noonan Syndrome 4	Curly hair, Epicanthus, Short neck, Sparse eyebrow, Cryptorchidism, Large for gestational age, Bi...	OMIM:610733
Muenke Syndrome	Capitate-hamate fusion, Dental malocclusion, Low anterior hairline, High palate, Malar flattening...	OMIM:602849
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Perlman Syndrome	Epicanthus, Inguinal hernia, Femoral hernia, Micrognathia, Cryptorchidism, High, narrow palate, H...	ORPHA:2849
Rigid Spine Syndrome	Hip contracture, Pneumonia, Hyperlordosis, Spinal rigidity, Elbow flexion contracture, Hamstring ...	ORPHA:97244
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Short stature, Eosinophilia, Atopic dermatitis, Hepatosplenomega...	OMIM:618999
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Bloom Syndrome	Chromosome breakage, Abnormality of chromosome stability, Small for gestational age, Elevated hem...	OMIM:210900
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Lipodystrophy, Chilblains, Intestinal inf...	OMIM:619858
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Abnormal dental enamel morphology, Corneal erosion, Macular ...	ORPHA:816
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism, Inguinal hernia, Decreased cirrculating antimullerian...	OMIM:261550
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Pseudomyxoma Peritonei	Nausea and vomiting, Abnormal peritoneum morphology, Intestinal obstruction, Abdominal pain, Weig...	ORPHA:26790
Bardet-Biedl Syndrome 21	Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu...	OMIM:617406
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Bachmann-Bupp Syndrome	Absent eyebrow, Thin upper lip vermilion, Sparse scalp hair, Sparse eyelashes, Hypoglycemia, Larg...	OMIM:619075
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Scoliosis	OMIM:300718
Mulibrey Nanism	Dental crowding, Absent frontal sinuses, Thickened cortex of long bones, Hypoplastic frontal sinu...	OMIM:253250
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f...	ORPHA:64753
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Gracile Bone Dysplasia	Short stature, Asplenia, Decreased skull ossification, Hypoplastic spleen, Failure to thrive, Ank...	OMIM:602361
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Spermatogenic Failure 17	Male infertility	OMIM:617214
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy, Optic atrophy, Retinal degeneration, Hypoglycemia	OMIM:300438
Combined Oxidative Phosphorylation Deficiency 36	Upslanted palpebral fissure, Failure to thrive, Hypoglycemia	OMIM:617950
Nijmegen Breakage Syndrome-Like Disorder	Growth delay, Short stature, Chromosomal breakage induced by ionizing radiation	OMIM:613078
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Hypogonadotropic hypogonadism, Highly arched eyebrow, Insulin-resistant diabetes mellitus, Abnorm...	ORPHA:293967
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Decreased hip abduction, Disproportionate short-trunk short stature, Irregu...	OMIM:609223
Van Maldergem Syndrome 2	Osteopenia, Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxi...	OMIM:615546
Syndromic Diarrhea	Villous atrophy, Brittle hair, Bloody diarrhea, Abnormality of the liver, Colitis, Hypoplasia of ...	ORPHA:84064
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Failure to thrive, Short stature, Chromosomal breakage induced by crosslinking agents, Decreased ...	OMIM:619060
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Fanconi Anemia, Complementation Group C	Pancytopenia, Small for gestational age, Short stature, Hypergonadotropic hypogonadism, Thrombocy...	OMIM:227645
Mccune-Albright Syndrome	Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious puberty, Abnormal facial skeleton...	ORPHA:562
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Reduced subcutaneous adipose tissue, Thin upper lip vermilion, Epicanthus, Lumbar hyperlordosis, ...	ORPHA:3041
Nephronophthisis 15	Obesity, Retinal degeneration	OMIM:614845
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, Low anter...	ORPHA:329178
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia	ORPHA:35878
Hyperinsulinism Due To Ucp2 Deficiency	Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ...	ORPHA:276556
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration	OMIM:602271
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Ophthalmoplegia, External, And Myopia	Retinal degeneration, Chorioretinal degeneration	OMIM:311000
Obesity Due To Melanocortin 4 Receptor Deficiency	Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset t...	ORPHA:71529
Mandibuloacral Dysplasia With Type B Lipodystrophy	Brittle hair, Dental crowding, Micrognathia, Flexion contracture, Glucose intolerance, High palat...	OMIM:608612
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Hypoglycemia	ORPHA:67048
Familial Anetoderma	Irregular dentition, Generalized joint laxity, Lumbar hyperlordosis, High, narrow palate	ORPHA:228277
Momo Syndrome	Delayed eruption of teeth, Epicanthus, Short neck, Thick lower lip vermilion, Dental malocclusion...	OMIM:157980
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Dental crowding, Increased s...	ORPHA:2457
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Transcobalamin Deficiency	Abnormality of chromosome stability, Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia	ORPHA:859
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Osteopenia, Decreased response to growth hormone stimulation test, Microgn...	OMIM:616007
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Basilicata-Akhtar Syndrome	Smooth philtrum, Epicanthus, Telecanthus, Tented upper lip vermilion, Short neck, Precocious pube...	OMIM:301032
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci...	OMIM:207750
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Arthrogryposis, Distal, Type 5	Keratoconus, Abnormality of retinal pigmentation, Keratoglobus, Astigmatism, Distal arthrogryposi...	OMIM:108145
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Takenouchi-Kosaki Syndrome	Thin upper lip vermilion, Inguinal hernia, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism,...	OMIM:616737
Smith-Kingsmore Syndrome	Thin upper lip vermilion, Curly hair, Hypoglycemia, Large for gestational age, Cryptorchidism, Wi...	OMIM:616638
Myopathic Ehlers-Danlos Syndrome	Failure to thrive, Multiple joint contractures, Foot joint contracture, Shoulder flexion contract...	ORPHA:536516
Cataract-Intellectual Disability-Hypogonadism Syndrome	Hypogonadotropic hypogonadism, Micrognathia, Hyperlordosis, Cryptorchidism, Furrowed tongue, Low ...	ORPHA:1387
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Short stature, Hyperlordosis, Limitation of joint mobility, Type I diabetes mellitus, Anemia	ORPHA:1192
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration	ORPHA:85334
Fanconi Anemia, Complementation Group Q	Chromosome breakage, Short stature, Esophageal atresia, Biliary atresia, Anteriorly placed anus, ...	OMIM:615272
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
3-Methylcrotonyl-Coa Carboxylase Deficiency	Failure to thrive in infancy, Hypoglycemia	ORPHA:6
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Sparse hair, Hyperlordo...	OMIM:234100
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Three M Syndrome 2	Delayed eruption of teeth, Lumbar hyperlordosis, Small for gestational age, Hyperlordosis, Short ...	OMIM:612921
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Splenomegaly, Patent ductus arteriosus, Chronic diarrhea, Esophageal ...	OMIM:614576
Solitary Fibrous Tumor	Low back pain, Hypoglycemia, Weight loss, Recurrent hypoglycemia, Hypophosphatemic rickets, Hypoi...	ORPHA:2126
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e...	ORPHA:1473
Retinal Cone Dystrophy 3B	Cone/cone-rod dystrophy, Astigmatism, Macular atrophy	OMIM:610356
Galactokinase Deficiency	Premature ovarian insufficiency, Small for gestational age, Hypergonadotropic hypogonadism, Hypog...	ORPHA:79237
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Micrognathia, Hypoplasia of the maxilla, High palate, Shallow orbits, Joint laxity, C...	OMIM:182212
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Epicanthus, Premature ovarian insufficiency, Endometriosis, Abnormality of the dentition, Carious...	ORPHA:363444
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Eczema, Abdominal pain, Splenomegaly, Leukocytosis, Lymphadenitis, Chronic diarrhea...	OMIM:615895
Nemaline Myopathy 5C, Autosomal Dominant	Hyperlordosis, Achilles tendon contracture, Feeding difficulties, High palate, Scoliosis, Dysphag...	OMIM:620389
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Sacral dimple, Epicanthus, Tented upper lip vermilion, Joint lax...	OMIM:601390
Keratoconus 6	Keratoconus	OMIM:614623
Keratoconus 5	Keratoconus	OMIM:614622
Keratoconus 8	Keratoconus	OMIM:614628
Keratoconus 7	Keratoconus	OMIM:614629
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma...	OMIM:262600
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Micrognathia, Synophrys, Sparse hair, Dystrophic fingernails, Anodontia, Alopecia, Abnormal denta...	ORPHA:3253
5-Oxoprolinase Deficiency	Diarrhea, Vomiting, Enterocolitis, Abdominal pain	OMIM:260005
Warburg-Cinotti Syndrome	Retinal dystrophy, Symblepharon, Ankle flexion contracture, Elbow flexion contracture, Limbal ste...	OMIM:618175
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Diabetes mellitus, Optic atrophy, Cardiomyopathy, Arrhythmia, Retinal de...	OMIM:249270
King-Denborough Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Bilateral cryptorchidism, Cryptorchidism, Bilat...	OMIM:619542
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Lumbar hyperlordosis, Short stature, Scoliosis	OMIM:619042
Autoimmune Lymphoproliferative Syndrome	Uveitis, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion o...	ORPHA:3261
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Thin upper lip vermilion, Dental crowding, Synophrys, Pierre-Robin sequence, Anterior...	OMIM:617877
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Loss of eyelashes, Corneal scarring, Atypical scarring of skin, Conjunc...	OMIM:263700
Congenital Generalized Lipodystrophy	Mandibular prognathia, Diabetes mellitus, Lipodystrophy, Precocious puberty in females, Adipose t...	ORPHA:528
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus, Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, ...	ORPHA:542306
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Anorexia, T lymphocytopenia, Colitis, Vom...	OMIM:619381
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Schwartz-Jampel Syndrome, Type 1	Cervical kyphosis, Short neck, Micrognathia, Deep philtrum, High palate, Wrist flexion contractur...	OMIM:255800
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Lymphad...	ORPHA:100024
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Cataract, Macular coloboma, Macular atrophy, Geographic atrophy, Synophrys, Re...	OMIM:619260
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen...	OMIM:616468
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Hyperinsulinemia, Obesity, Impaired social interactions	ORPHA:329249
Seckel Syndrome 1	Dental crowding, Selective tooth agenesis, Micrognathia, Cryptorchidism, Elbow flexion contractur...	OMIM:210600
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium	OMIM:616868
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Chronic ...	OMIM:209920
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Interst...	OMIM:614878
Harrod Syndrome	Cryptorchidism, Kyphosis, Dental malocclusion, Joint hyperflexibility, High palate, Scoliosis, Na...	ORPHA:2115
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipodystrophy, Dental crowding, ...	OMIM:615381
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Dyst...	OMIM:616267
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Glycogen Storage Disease Iii	Thin upper lip vermilion, Thin vermilion border, Hypoglycemia, Malar flattening	OMIM:232400
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Micrognathia, Cryptor...	OMIM:619326
X-Linked Dominant Chondrodysplasia Punctata	Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Sparse eyelashes, Kyphoscoliosis, ...	ORPHA:35173
Alg6-Cdg	Puberty and gonadal disorders, Rod-cone dystrophy, Increased circulating androgen concentration, ...	ORPHA:79320
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hepatomegaly, Lipodystrophy, Spinal rigidity, Hyperlordosis, Splenomegaly, Pyloric st...	OMIM:613327
Congenital Myopathy 2A, Typical, Autosomal Dominant	Spinal rigidity, Hyperlordosis, High palate, Scoliosis, Arthrogryposis multiplex congenita, Retro...	OMIM:161800
Macular Dystrophy, Vitelliform, 3	Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ...	OMIM:608161
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent skin infections, Short stature, Joint stiffness, Postnatal growth retarda...	OMIM:620210
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Isochromosomy Yp	Male infertility, Azoospermia, Primary gonadal insufficiency, Decreased testicular size	ORPHA:98797
Ficolin 3 Deficiency	Necrotizing enterocolitis	OMIM:613860
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp...	ORPHA:699
Diarrhea 13	Recurrent hypoglycemia, Failure to thrive	OMIM:620357
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Bestrophinopathy, Autosomal Recessive	Retinal pigment epithelial atrophy, Retinal flecks	OMIM:611809
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Short neck, Micrognathia, Deep philtrum, Hig...	OMIM:115150
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchidism, Increased...	OMIM:614736
Cartilage-Hair Hypoplasia	Fair hair, Sparse facial hair, Neutropenia, Sparse hair, Neonatal short-limb short stature, Joint...	OMIM:250250
Cone-Rod Dystrophy 13	Cone/cone-rod dystrophy, Macular degeneration	OMIM:608194
Robinow Syndrome, Autosomal Dominant 3	Short neck, Micrognathia, Downturned corners of mouth, Cryptorchidism, Cleft lip, Gingival overgr...	OMIM:616894
Anauxetic Dysplasia 2	Short stature, Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Short neck, P...	OMIM:617396
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Lumbar hyperlordosis, Lipodystrophy, Insulin resistance, Abdominal obesity	OMIM:615980
Short Chain Acyl-Coa Dehydrogenase Deficiency	Failure to thrive, Ketotic hypoglycemia	ORPHA:26792
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Limitation of joint mobility, Feed...	ORPHA:157973
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin...	OMIM:606762
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Jaundice, Erythroderma, Lymphaden...	ORPHA:540
Fanconi Anemia, Complementation Group O	Chromosome breakage, Rectal atresia, Short stature, Anal atresia	OMIM:613390
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Failure to thrive, Hypoglycemia	OMIM:619048
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia, Scoliosis	OMIM:618241
Cutis Laxa, Autosomal Recessive, Type Iie	Joint laxity, Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies, Highly arched eyebro...	OMIM:619451
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy	Flexion contracture, Congenital foot contraction deformities, Hyperlordosis	ORPHA:363454
Phelan-Mcdermid Syndrome	Sacral dimple, Epicanthus, Palpebral edema, Joint hypermobility, Micrognathia, Dental malocclusio...	OMIM:606232
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Short stature, Kyphosis, Obesity, Scoliosis	OMIM:616756
Stormorken Syndrome	Howell-Jolly bodies, Short stature, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Fragile X Syndrome	Joint laxity, Sinusitis, Folate-dependent fragile site at Xq28, Gastroesophageal reflux, Otitis m...	ORPHA:908
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Hypoglycemia, Adrenal hypoplasia, Cryptorchidism, Hypothyroidism, Pr...	ORPHA:95496
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhag...	OMIM:175780
Fanconi Anemia, Complementation Group E	Pancytopenia, Small for gestational age, Short stature, Hypergonadotropic hypogonadism, Chromosom...	OMIM:600901
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Abnormality of chromosome stability, Malabsorption, Leukocytosis, Low...	ORPHA:99812
Barber-Say Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, High palat...	OMIM:209885
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypoglycemic seizures, Inflammation of the large intestine, Periodontitis, Hepatic st...	ORPHA:79259
Hypotonia-Cystinuria Syndrome	Tented upper lip vermilion, Hypergonadotropic hypogonadism, Decreased response to growth hormone ...	OMIM:606407
Houge-Janssens Syndrome 1	Hypoglycemia, Scoliosis, Open mouth, Downslanted palpebral fissures, Ptosis	OMIM:616355
Refsum Disease, Classic	Cataract, Congestive heart failure, Cardiomyopathy, Arrhythmia, Rod-cone dystrophy, Retinal degen...	OMIM:266500
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Fragile X Syndrome	Joint laxity, Folate-dependent fragile site at Xq28, Scoliosis	OMIM:300624
Au-Kline Syndrome	Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate, Shallow orb...	OMIM:616580
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ...	ORPHA:529970
Arthrogryposis, Distal, Type 3	Epicanthus, Lumbar hyperlordosis, Decreased hip abduction, Camptodactyly of finger, Thoracolumbar...	OMIM:114300
Combined Malonic And Methylmalonic Acidemia	Failure to thrive, Hypoglycemia	ORPHA:289504
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo...	ORPHA:73263
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Foot joint contracture, Short neck, Sparse eyebrow, Cryptorchidism, Micrognathia...	ORPHA:444072
Schimke Immunoosseous Dysplasia	Osteopenia, Pancytopenia, Lumbar hyperlordosis, Small for gestational age, Ovoid vertebral bodies...	OMIM:242900
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Epicanthus, Dental malocclusion, Upslanted palpebral fissure, Open mouth	OMIM:619149
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Joint laxity, Microcytic anemia, Hyperlordosis, Growth...	OMIM:600462
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Short stature, Se...	ORPHA:99642
Spondyloepiphyseal Dysplasia Tarda	Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck...	ORPHA:93284
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Silver-Russell Syndrome Due To A Point Mutation	Inguinal hernia, Small for gestational age, Dysmenorrhea, Hypoglycemia, Micrognathia, Cryptorchid...	ORPHA:397590
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Elevated circulating creatine kinase concentration, Tremor, Hypoalbuminemia, Dystonia, Hyperchole...	OMIM:208920
Pseudodiastrophic Dysplasia	Smooth philtrum, Lumbar hyperlordosis, Short neck, Micrognathia, Hypoplasia of the odontoid proce...	OMIM:264180
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Diabetes mellitus, Lipoatrophy, Hyperinsulinemia	ORPHA:79084
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Joint contracture of the hand, Scoliosis, Hyperlordosis	OMIM:611067
Fanconi Anemia, Complementation Group N	Postnatal growth retardation, Aplastic anemia, Chromosomal breakage induced by crosslinking agent...	OMIM:610832
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Abnormality of hair texture, Dental malocclusion, Thick vermi...	OMIM:601957
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Hypoglycemia, Kyphoscoliosis, Retrognathia, High palate, Joint contracture, Failure t...	OMIM:618005
Arthrogryposis, Distal, Type 5D	Limited knee flexion, Tongue atrophy, Highly arched eyebrow, Hyperlordosis, Short neck, Lagophtha...	OMIM:615065
Wieacker-Wolff Syndrome	Hyperlordosis, Short neck, Kyphosis, Micrognathia, High anterior hairline, Congenital foot contra...	OMIM:314580
Fanconi Anemia, Complementation Group A	Pancytopenia, Small for gestational age, Short stature, Hypergonadotropic hypogonadism, Chromosom...	OMIM:227650
Fanconi Anemia, Complementation Group L	Chromosome breakage, Hypoplastic sacrum, Short neck, Esophageal atresia, Chromosomal breakage ind...	OMIM:614083
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Knee flexion contracture, ...	OMIM:615290
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals	OMIM:210370
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Diabetes mellitus, Hyperaut...	OMIM:209900
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Thick lower lip vermilion, Hyperinsulinemia, Gingival ov...	OMIM:246200
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Immunodeficiency 58	Recurrent cutaneous abscess formation, Helicobacter pylori infection, Short stature, Eczema, Alle...	OMIM:618131
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto t...	ORPHA:227990
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Liver abscess, Lung abscess, Acute colitis, Abdominal pain, Leukocytosis,...	ORPHA:67
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of te...	OMIM:248370
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Lumbar hyperlordosis, Ankle flexion contracture	ORPHA:280333
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Thoracic kyphoscoliosis, Pancytopenia, Lumbar hyperlordosis, Failure to thrive in infancy, Short ...	OMIM:613385
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Macular Degeneration, Age-Related, 3	Drusen, Macular degeneration, Choroidal neovascularization	OMIM:608895
Myasthenic Syndrome, Congenital, 16	Ptosis, Bilateral ptosis, High palate, Hyperlordosis	OMIM:614198
N Syndrome	Abnormality of chromosome stability, Leukemia	OMIM:310465
Fanconi Anemia, Complementation Group D2	Pancytopenia, Small for gestational age, Short stature, Hypergonadotropic hypogonadism, Thrombocy...	OMIM:227646
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Tubulointe...	ORPHA:227982
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Inguinal hernia, Epicanthus, Dental crowding, Malar flattening, Short ...	ORPHA:2789
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Hypoparathyroidism, Inguinal hernia, Cataract, Failure to thrive, Ab...	ORPHA:567
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A...	OMIM:619079
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Hypomature enamel, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Amel...	OMIM:612529
Retinitis Pigmentosa 23	Retinal pigment epithelial atrophy, Posterior subcapsular cataract, Absent foveal reflex, Rod-con...	OMIM:300424
Spastic Paraplegia 11, Autosomal Recessive	Macular degeneration, Obesity, Retinal degeneration	OMIM:604360
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Abdominal pain, Abdominal distention, Diarrhea, Osteoporosis, Rickets, Weight loss,...	ORPHA:309031
Short Stature, Dauber-Argente Type	Delayed eruption of teeth, Osteopenia, Fasting hyperinsulinemia, Reduced bone mineral density	OMIM:619489
Nemaline Myopathy 2	Hyperlordosis, Spinal rigidity, Flexion contracture, Cleft palate, Congenital contracture, High p...	OMIM:256030
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Severe short stature, Hyperlordosis, Short neck, Abdominal distention, Delayed epip...	ORPHA:93352
Pseudoachondroplasia	Joint laxity, Lumbar hyperlordosis, Limited hip extension, Joint stiffness, Hypoplasia of the odo...	ORPHA:750
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Craniofacial osteosclerosis, High palate, Spina bifida occulta, Bi...	OMIM:300373
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N...	ORPHA:137888
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Congenital diaphragmatic hernia, Short neck, Micrognathia, Hemivertebrae,...	ORPHA:96121
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Sparse facial hair, Decreased serum estradiol, Alopecia, Streak ovary, Lumbar hyperlo...	ORPHA:2232
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Ovoid vertebral bodies, Joint stiffness, Dental malocclusion, Platyspondyly, Scoliosis, Severe pl...	OMIM:608940
Dermatitis, Atopic	Keratoconus, Cataract, Conjunctivitis	OMIM:603165
Fanconi Anemia, Complementation Group B	Abnormality of chromosome stability, Aplastic anemia, Hypergonadotropic hypogonadism, Short neck,...	OMIM:300514
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Hyperinsulinemia, Obesity	OMIM:618406
Spermatogenic Failure, X-Linked, 6	Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai...	OMIM:301101
Glucocorticoid Deficiency 1	Decreased circulating cortisol level, Increased circulating ACTH level, Abnormal circulating reni...	OMIM:202200
Sepsis In Premature Infants	Hepatomegaly, Small for gestational age, Thrombocytopenia, Leukocytosis, Splenomegaly, Gastrointe...	ORPHA:90051
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti...	OMIM:619350
Dihydrolipoamide Dehydrogenase Deficiency	Hypoglycemia	OMIM:246900
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Ceroid Lipofuscinosis, Neuronal, 5	Retinal degeneration	OMIM:256731
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hyp...	ORPHA:2298
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Ankle flexion contracture, Hyperlordosis, Spinal rigidity, Flexion contracture, Elbow flexion con...	ORPHA:267
Martin-Probst Syndrome	Epicanthus, Telecanthus, Micrognathia, Cryptorchidism, Hypothyroidism, Thick lower lip vermilion,...	OMIM:300519
Estrogen Resistance	Increased circulating osteocalcin level, Osteopenia, Impaired glucose tolerance, Hyperinsulinemia...	OMIM:615363
Spermatogenic Failure 81	Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R...	OMIM:620277
Estrogen Resistance Syndrome	Osteopenia, Abnormality of the pubic hair, Increased circulating gonadotropin level, Absence of s...	ORPHA:785
Myasthenic Syndrome, Congenital, 14	Hyperlordosis, Distal joint laxity, Knee flexion contracture, High palate, Scoliosis, Ptosis	OMIM:616228
Masa Syndrome	Kyphosis, Short stature, Hyperlordosis	OMIM:303350
Cohen Syndrome	Thoracic scoliosis, Lumbar hyperlordosis, Small for gestational age, Short stature, Decreased res...	OMIM:216550
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen...	OMIM:278000
3Mc Syndrome	Ptosis, Telecanthus, Highly arched eyebrow, Hyperlordosis, Bilateral cryptorchidism, Craniosynost...	ORPHA:293843
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Feeding difficulties in infancy, Colitis...	ORPHA:3260
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Small for gestational age, Hypoglycemia	OMIM:615160
Oculodentodigital Dysplasia	Mandibular prognathia, Brittle hair, Micrognathia, Abnormal form of the vertebral bodies, Sparse ...	ORPHA:2710
Congenital Myopathy 17	Mandibular prognathia, Telecanthus, Tented upper lip vermilion, Failure to thrive in infancy, Den...	OMIM:618975
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Glucose intolerance, Impaired glucose tolerance, Obesity, Retinal degeneration	OMIM:615630
Hereditary Sensory And Autonomic Neuropathy Type 2	Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical b...	ORPHA:970
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, Low anterior hairline, Prematur...	ORPHA:769
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Hyperlordosis, Abnormal zygomatic bone morphology, Shagreen patch, Unilate...	ORPHA:2511
Gm1 Gangliosidosis	Abnormal form of the vertebral bodies, Gastroesophageal reflux, Aspiration pneumonia, Infectious ...	ORPHA:354
Icf Syndrome	Abnormality of chromosome stability, Short stature, Abnormality of neutrophils, Protruding tongue...	ORPHA:2268
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Crisponi/Cold-Induced Sweating Syndrome 2	Lumbar hyperlordosis, Thoracolumbar scoliosis, Feeding difficulties, High palate, Limited elbow e...	OMIM:610313
Nemaline Myopathy 7	Lumbar hyperlordosis, High palate, Kyphoscoliosis, Knee flexion contracture	OMIM:610687
Macrophthalmia, Colobomatous, With Microcornea	Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior...	OMIM:602499
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia, Opisthotonus	OMIM:250800
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Hyperinsulinemia, Increased body weight, Glycosuria, Pancreatic islet-...	ORPHA:263455
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Abdo...	ORPHA:2137
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Joint laxity, Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Shor...	OMIM:253000
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Bloody ...	OMIM:617718
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Inguinal hernia, Corneal dystrophy, Ectopia pupillae, Corneal guttata	OMIM:609141
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Epicanthus, Thick lower lip vermilion, Obesity, Long eyelashes, Narrow mouth, Thick upper lip ver...	OMIM:608624
Keratoconus Posticus Circumscriptus	Keratoconus, Central posterior corneal opacity	OMIM:244600
Larsen-Like Syndrome	Joint laxity, Kyphoscoliosis, Dental malocclusion, Cleft palate, Malar flattening	OMIM:608545
Fraxf Syndrome	Folate-dependent fragile site at Xq28	ORPHA:100974
Glycogen Storage Disease Ib	Hepatomegaly, Short stature, Pancreatic fibrosis, Hypoglycemia, Hepatocellular carcinoma, Splenom...	OMIM:232220
Mulchandani-Bhoj-Conlin Syndrome	Epicanthus, Hyperlordosis, Retrognathia, Scoliosis, Failure to thrive	OMIM:617352
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia, Ankle flexion contracture	OMIM:618120
Hypochondroplasia	Hyperlordosis, Osteoarthritis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Join...	ORPHA:429
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Cone-Rod Dystrophy 15	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:613660
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration	OMIM:619248
Riboflavin Deficiency	Hypoglycemia	OMIM:615026
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Achromatopsia 7	Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy	OMIM:616517
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Camptodactyly of finger, Corneal scarring, Developmental cataract, Keloids, En...	OMIM:309000
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Ptosis, Telecanthus, Hypoglycemia, Short neck, Micrognathia, Cryptorchidism, Low anterior hairlin...	OMIM:620224
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3	Achilles tendon contracture, Thoracic scoliosis, Limited shoulder movement, Hyperlordosis	ORPHA:62
Silver-Russell Syndrome	Failure to thrive in infancy, Dental crowding, Cachexia, Micrognathia, Precocious puberty, Crypto...	ORPHA:813
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Curly hair, Telecanthus, Hyperlordosis, Pierre-Robin sequence, Clef...	OMIM:619980
Sclerosteosis 1	Mandibular prognathia, Sclerotic scapulae, Irregular menstruation, Dental malocclusion, Facial pa...	OMIM:269500
Inflammatory Bowel Disease 25, Autosomal Recessive	Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ...	OMIM:612567
Robinow Syndrome	Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Persiste...	ORPHA:97360
Myopathy, Centronuclear, 2	Hyperlordosis, Kyphosis, Flexion contracture, High palate, Scoliosis, Ptosis	OMIM:255200
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi...	OMIM:238600
Werner Syndrome	Diabetes mellitus, Cataract, Hypogonadism, Alopecia of scalp, Retinal degeneration	OMIM:277700
Pyridoxine-Dependent Epilepsy	Hypoglycemia	ORPHA:3006
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t...	ORPHA:79644
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Asplenia, Male hypogonadism, Hypothyroidism, Alopec...	OMIM:240300
Primary Sclerosing Cholangitis	Acute hepatic failure, Osteopenia, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neo...	ORPHA:171
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Propionic Acidemia	Hypoglycemia	ORPHA:35
Congenital Myopathy 4A, Autosomal Dominant	Lumbar hyperlordosis, Limb joint contracture, High palate, Scoliosis, Failure to thrive, Ptosis	OMIM:255310
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Three M Syndrome 1	Mandibular prognathia, Small for gestational age, Joint hypermobility, Short neck, Hyperlordosis,...	OMIM:273750
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Hyperopic astigmatism, Opacification of the corneal stroma, Retinopathy, Re...	OMIM:252600
Faciocardiomelic Syndrome	Osteopenia, Telecanthus, Large for gestational age, Micrognathia, Cuboid-shaped vertebral bodies,...	OMIM:612731
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Shal...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Shal...	ORPHA:352665
Isobutyryl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia	ORPHA:79159
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Tented upper lip vermilion, Synophrys, Flexion contracture, Downturned corners of mouth, Short ph...	ORPHA:487796
Mucopolysaccharidosis Type 4	Abnormal dental enamel morphology, Hyperlordosis, Short neck, Grayish enamel, Kyphosis, Abnormali...	ORPHA:582
Cone Dystrophy 3	Cone/cone-rod dystrophy, Macular atrophy	OMIM:602093
Combined Oxidative Phosphorylation Deficiency 10	Failure to thrive, Small for gestational age, Hypoglycemia	OMIM:614702
Microtriplication 11Q24.1	Keratoconus, Synophrys, Obesity, Long eyelashes, Thick eyebrow	ORPHA:289522
Sotos Syndrome	Mandibular prognathia, Joint laxity, Sparse eyebrow, Cryptorchidism, High, narrow palate, Increas...	OMIM:117550
Silver-Russell Syndrome 2	Downturned corners of mouth, Neonatal hypoglycemia, Micrognathia	OMIM:618905
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Localized Scleroderma	Fasciitis, Abnormality of the dentition, Flexion contracture, Dental malocclusion, Abnormal facia...	ORPHA:90289
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Striatonigral Degeneration, Childhood-Onset	Lumbar hyperlordosis, Dysphagia	OMIM:617054
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Congenital bilateral ptosis, Camptodactyly, Malar flattening, ...	OMIM:608257
Myopathy, Centronuclear, X-Linked	Cryptorchidism, Flexion contracture, High palate, Dental malocclusion	OMIM:310400
Blue Diaper Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Increased ...	ORPHA:94086
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hyperuricemia, Action tremor	ORPHA:77296
Schimke Immuno-Osseous Dysplasia	Short neck, Neutropenia, Lumbar hyperlordosis, Short stature, Minimal change glomerulonephritis, ...	ORPHA:1830
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo...	ORPHA:848
Oculoskeletodental Syndrome	Epicanthus, Hyperlordosis, Abnormality of the dentition, Abnormality of the frontal hairline, Oli...	ORPHA:557003
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hyperlordosis, Hypoplasia of the odontoid process, Insulin-resistant diabetes mellitus, Osteoporo...	OMIM:226980
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hip contracture, Mandibular prognathia, Dry hair, Delayed er...	OMIM:216400
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Fanconi Anemia, Complementation Group P	Pancytopenia, Short stature, Growth delay, Anemia, Chromosomal breakage induced by crosslinking a...	OMIM:613951
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen...	ORPHA:90791
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Dystonia, Hypercholes...	OMIM:277460
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Adrenal insufficiency	OMIM:619386
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d...	ORPHA:91355
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Persistence of primary teeth, Scarring alopecia of scalp, Unilateral narrow palpeb...	OMIM:618727
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Rod-cone dystrophy, Atten...	OMIM:613464
Pyridoxal Phosphate-Responsive Seizures	Failure to thrive, Hypoglycemia	ORPHA:79096
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Joint laxity, Curly hair, Epicanthus, Hyperlordosis, Almond-shaped palpebral fissure, Micrognathi...	OMIM:300986
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Inguinal hernia, Severe short stature, Hyperlordosis, Hypoplasia of the odontoid process, Cleft p...	OMIM:184250
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth...	ORPHA:99867
Absence Deformity Of Leg-Cataract Syndrome	Anal atresia, Scoliosis, Hyperlordosis	ORPHA:2310
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Obesity, Hypog...	OMIM:615994
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:610006
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Camptodactyly of finger, Hyperlordosis, Micrognathia, Joint stiffness, Narrow palate, Low posteri...	ORPHA:1323
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Failure to thrive, Hypoglycemia	OMIM:614739
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Mandibular prognathia, Dry hair, Small for gestational age, ...	OMIM:133540
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Thin upper lip vermilion, Macrodontia, Thoracolumbar scoliosis, Hyperlordosis, Micrognathia, Kyph...	OMIM:618443
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Frank-Ter Haar Syndrome	Osteopenia, Thin upper lip vermilion, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, M...	OMIM:249420
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Limited elbow movement, Sagittal craniosynostos...	OMIM:101200
Cog4-Cdg	Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly	ORPHA:263501
Rubinstein-Taybi Syndrome 1	Dental crowding, Premature thelarche, Micrognathia, Bilateral cryptorchidism, High, narrow palate...	OMIM:180849
Dysostosis, Stanescu Type	Increased bone mineral density, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyp...	ORPHA:1798
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Myasthenic Syndrome, Congenital, 5	Ptosis, Scoliosis, Hyperlordosis	OMIM:603034
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased...	OMIM:613986
Pyruvate Dehydrogenase E3 Deficiency	Failure to thrive, Hypoglycemia	ORPHA:2394
Pyoderma Gangrenosum	Myositis, Pustule, Inflammation of the large intestine, Atrophic scars, Rheumatoid arthritis, Mye...	ORPHA:48104
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Short stature, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocy...	ORPHA:2522
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Distal arthrogryposis, Hypoglycemia, Cachexia	ORPHA:42
Silver-Russell Syndrome 1	Small for gestational age, Decreased response to growth hormone stimulation test, Micrognathia, D...	OMIM:180860
Sapho Syndrome	Craniofacial osteosclerosis, Enthesitis, Inflammation of the large intestine, Palmoplantar pustul...	ORPHA:793
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia, Long philtrum	ORPHA:2158
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia	OMIM:620137
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Mandibular prognathia, Joint laxity, Lumbar hyperlordosis, Kyphoscoliosis, Large for gestational ...	ORPHA:457359
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Epicanthus, Hypoglycemia, Malar flattening, Hyperlordosis, Precocious puberty, Cleft lip, Synophr...	OMIM:301066
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Lipodystrophy, Short neck, Hyperlordosis, Kyphosis, Achilles tendon contracture, Spina...	ORPHA:98863
Oliver Syndrome	Mandibular prognathia, Camptodactyly of finger, Supernumerary nipple, Elbow flexion contracture, ...	ORPHA:2920
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Rod-cone dystrophy, Retinal atrophy	OMIM:610127
Microphthalmia, Syndromic 9	Inguinal hernia, Severe short stature, Short stature, Congenital diaphragmatic hernia, Patent duc...	OMIM:601186
Obesity And Hypopigmentation	Red hair, Hyperinsulinemia, Obesity	OMIM:620195
Cerebellofaciodental Syndrome	Short neck, Sparse eyebrow, Cryptorchidism, Dental malocclusion, Fine hair, Taurodontia, Scoliosi...	OMIM:616202
Congenital Disorder Of Glycosylation, Type Ig	Thin upper lip vermilion, Epicanthus, Small for gestational age, Hypoglycemia, Cryptorchidism, Sh...	OMIM:607143
Holoprosencephaly	Congenital diaphragmatic hernia, Short neck, Synophrys, Deep philtrum, Panhypopituitarism, Abnorm...	ORPHA:2162
Hsd10 Disease, Infantile Type	Hypoglycemia, Optic atrophy, Hypertrophic cardiomyopathy, Rod-cone dystrophy, Retinal degeneration	ORPHA:391428
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol...	OMIM:615558
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Failure to thrive, Neonatal hypoglycemia, Ptosis	OMIM:619046
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Decreased circulating cortisol level, Premature ovarian insufficiency, Hypogl...	ORPHA:199299
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair, Large for gestational age, Cryptorchidism, Wide mouth, Long philtrum, Open mouth, Dow...	ORPHA:457485
Developmental And Epileptic Encephalopathy 28	Optic atrophy, Retinal degeneration	OMIM:616211
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn...	ORPHA:3243
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Abdominal distention,...	OMIM:602557
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S...	OMIM:616950
Congenital Disorder Of Glycosylation, Type Iie	Smooth philtrum, Hypoglycemia, Short neck, Micrognathia, Protruding tongue, Low anterior hairline...	OMIM:608779
3M Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Increase...	ORPHA:2616
Spondyloenchondrodysplasia With Immune Dysregulation	Lumbar hyperlordosis, Short stature, Pneumonia, Kyphoscoliosis, Autoimmune thrombocytopenia, Incr...	OMIM:607944
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia	ORPHA:254531
Prader-Willi Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Downturned corners of mouth, H...	OMIM:176270
Intellectual Developmental Disorder, Autosomal Dominant 52	Lumbar hyperlordosis, Small for gestational age, Overweight, Bilateral cryptorchidism, Cryptorchi...	OMIM:617796
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Flexion contracture, Retinal degeneration	OMIM:615249
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Trichorhinophalangeal Syndrome Type 1	Sparse eyelashes, Camptodactyly of finger, Hyperlordosis, Sparse eyebrow, Micrognathia, Supernume...	ORPHA:77258
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Hyperlordosis, Cryptorchidism, Flexion contracture, Macroglossia, Scoliosis, Open mouth	OMIM:613156
Progressive Pseudorheumatoid Arthropathy Of Childhood	Irregularity of vertebral bodies, Infancy onset short-trunk short stature, Short stature, Thoraco...	ORPHA:1159
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Inguinal hernia, Cryptorchidism, Deep philtrum, Trismus, Dental malocclusion, H...	OMIM:227330
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Tachycardia, Pigmentary retinopathy, Retinal degeneration	ORPHA:79264
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone...	OMIM:108420
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Epicanthus, Increased bone mineral density, Micrognathia, Hyperlordosi...	ORPHA:2780
Immunodeficiency 17	Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic diarrh...	OMIM:615607
Spastic Paraplegia 87, Autosomal Recessive	Lumbar hyperlordosis	OMIM:619966
Oguchi Disease	Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon	ORPHA:75382
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Feedin...	OMIM:606612
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3	Hyperlordosis	OMIM:607088
Reni Syndrome	Hypoglycemia, Cryptorchidism, Hypogonadism, Adrenal insufficiency, Hypothyroidism, Ptosis	OMIM:617575
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Cataract, Highly arched eyebrow, Trichiasis, Cardiac conduction abnormality, Obesity, Corneal sca...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Cataract, Highly arched eyebrow, Trichiasis, Cardiac conduction abnormality, Obesity, Corneal sca...	ORPHA:353277
Isochromosomy Yq	Male infertility, Azoospermia, Primary gonadal insufficiency, Decreased testicular size	ORPHA:98798
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidis...	OMIM:616113
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, High palate, Gastroesophageal reflux, Neut...	ORPHA:443811
Desbuquois Dysplasia 1	Microretrognathia, Joint laxity, Hyperlordosis, Short neck, Kyphosis, Osteoarthritis, Osteoporosi...	OMIM:251450
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatic steatosis, Necrotizing enterocolitis, Hepatomegaly, Hepatocellul...	OMIM:201475
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia	ORPHA:5
Atelosteogenesis, Type Ii	Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Micrognathia...	OMIM:256050
Lacrimoauriculodentodigital Syndrome	Increased corneal thickness, Abnormal dental enamel morphology, Keratoconjunctivitis, Keratoconju...	ORPHA:2363
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Joint laxity, Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Gray...	OMIM:253010
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Lumbar hyperlordosis, Abnormal macrophage morphology, Achilles tendon contracture, Macroglossia, ...	ORPHA:353
Non-Acquired Panhypopituitarism	Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog...	ORPHA:90695
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Small for gestational age, Dental crowding, Decreased response to growth hormone stimulation test...	ORPHA:96182
Emery-Dreifuss Muscular Dystrophy	Back pain, Lipodystrophy, Hyperlordosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, ...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Lipodystrophy, Hyperlordosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, ...	ORPHA:98853
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu...	ORPHA:226307
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Macular degeneration, Cataract, Tortuosity of conjunctival vessels	ORPHA:284289
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Coarse hair, High palate, Widely ...	OMIM:303600
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,...	ORPHA:361
Gaucher Disease Type 1	Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Anorexia, Abdominal pain,...	ORPHA:77259
Radial-Renal Syndrome	Chromosome breakage, Short stature	OMIM:179280
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia	ORPHA:364
Retinitis Pigmentosa 37	Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener...	OMIM:611131
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Failure to thrive, Hypoglycemia	OMIM:245400
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Epicanthus, Hyperlordosis, Micrognathia, Abnormality of hair texture, S...	ORPHA:73223
Inflammatory Bowel Disease 11	Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine	OMIM:191390
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Short stature, Decreased response to growth hormone st...	OMIM:618223
Mitochondrial Complex I Deficiency, Nuclear Type 33	Sparse hair, Small for gestational age, Hypoglycemia	OMIM:618253
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Lumbar hyperlordosis, Flexion contracture, Joint stiffness, Spinal rigidity	OMIM:609308
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Omphalocele, Absent eyebrow, Alopecia, Inguinal hernia, Sparse scalp hair, Keratitis, Absent eyel...	OMIM:308205
Aceruloplasminemia	Diabetes mellitus, Retinal degeneration	OMIM:604290
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype...	ORPHA:247585
Autosomal Dominant Spondylocostal Dysostosis	Hyperlordosis, Short neck, Abnormal sacrum morphology, Cleft palate, Upslanted palpebral fissure,...	ORPHA:1797
Cartilage-Hair Hypoplasia	Short neck, Abnormal form of the vertebral bodies, Abnormal bone ossification, Neutropenia, Spars...	ORPHA:175
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Short stature, Anemia	ORPHA:3204
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Failure to thrive, Ketotic hypoglycemia, Glycosuria	ORPHA:2089
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Insulin resistance, H...	ORPHA:363400
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Thoracic kyphosis, Thoracic scoliosis, Lumbar hyperlordosis, Elbow flexion contracture	ORPHA:206546
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Hypertrophic cardiomyopathy, Retinal degeneration	OMIM:616896
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Hypogonadotropic hypogonadism, Hyperlordosis, Limitation of joint mobi...	ORPHA:3068
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Micrognathia, Osteoarthritis, Flexion...	ORPHA:666
Orthostatic Hypotension 1	Joint hypermobility, Reduced circulating prolactin concentration, Retrograde ejaculation, High pa...	OMIM:223360
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Failure to thrive, Hypoglycemia, Ptosis	OMIM:615453
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis, Bronchiectasis, Knee flexion contracture, Inflammation of the large intestine, Rectovag...	OMIM:619708
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypoglycemia, Dysmenorrhea, Irregular menstruation, Increased body weight, Osteoporosis, Oligomen...	ORPHA:264580
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Acute colitis, Abdominal pain, Intestinal perforation, Pancreatitis, Leukocytosi...	ORPHA:90038
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Corneal scarring, Atypical scarring of skin, Aplasia of the sweat glands, Syncope, Cor...	ORPHA:642
Glycogen Storage Disease Ixb	Hypoglycemia	OMIM:261750
Poretti-Boltshauser Syndrome	Retinal thinning, Retinal atrophy, Retinal dystrophy	OMIM:615960
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Propionic Acidemia	Hepatomegaly, Pancytopenia, Short stature, Eczema, Poor appetite, Hypoglycemia, Feeding difficult...	OMIM:606054
Ornithine Transcarbamylase Deficiency	Hypoglycemia	ORPHA:664
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Fine hair, Macular degeneration, Abnormality of macular pigmenta...	ORPHA:1573
Turnpenny-Fry Syndrome	Mandibular prognathia, Thoracic kyphoscoliosis, Thin upper lip vermilion, Lumbar hyperlordosis, D...	OMIM:618371
Hemochromatosis, Neonatal	Hypoglycemia	OMIM:231100
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome	OMIM:201910
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Vomiting, Alopecia, Short stature, Abdominal pain, Osteoporosis, Delayed ...	OMIM:212750
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Mild short stature, Lumbar hyperlordosis, Scoliosis, Joint stiffness	OMIM:618167
Myopathy, Centronuclear, 1	Ptosis, Flexion contracture, Hyperlordosis	OMIM:160150
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Limitation o...	OMIM:313400
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Growth delay...	OMIM:614034
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus, Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia	ORPHA:401777
Cherubism	Jaw swelling, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Lower ...	OMIM:118400
Pituitary Apoplexy	Hypergonadotropic hypogonadism, Hypoglycemia, Decreased response to growth hormone stimulation te...	ORPHA:95613
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Pyruvate Carboxylase Deficiency	Hypoglycemia	OMIM:266150
Microphthalmia, Syndromic 2	Flexion contracture, Oligodontia, Fused teeth, Laterally curved eyebrow, Contracture of the proxi...	OMIM:300166
Addison Disease	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Increased circul...	ORPHA:85138
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration	OMIM:264420
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia, Obesity	ORPHA:369873
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limited elbow extension, Lumbar hyperlordosis, Short stature, Disproportionate short-limb short s...	ORPHA:156728
Aromatase Deficiency	Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Osteopenia, Hypergonadotropic ...	ORPHA:91
Camurati-Engelmann Disease	Hepatomegaly, Cachexia, Hyperlordosis, Anorexia, Kyphosis, Splenomegaly, Feeding difficulties in ...	ORPHA:1328
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Hypoglycemia, Supernumerary nipple, Submucous cleft hard palate, High p...	ORPHA:457279
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Dry hair, Diabetes mellitus, Abnormal dental morphology, Cac...	ORPHA:191
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Malar flattening, Bil...	OMIM:211380
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Secretory diarrhea, Hepatic steatosis, Decreased proportion ...	OMIM:619573
Williams Syndrome	Osteopenia, Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, M...	ORPHA:904
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Reduced bone mineral density, Iron deficiency anemia, High palate, Abnormal bone ossi...	ORPHA:93315
Cone-Rod Dystrophy 21	Retinal dystrophy, Macular atrophy	OMIM:616502
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypoglycemia, Large for gestational age, Rickets, Glycosuria	OMIM:616026
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Hip osteoarthritis, Premature osteoarthritis, Lumbar hyperlordosis, Short stature	OMIM:165800
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Lipodystrophy, Hyperlordosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, ...	ORPHA:98855
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Dental crowding, Exaggerated med...	ORPHA:313892
Mucolipidosis Iii Gamma	Short stature, Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Scoliosis	OMIM:252605
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Frontal balding, Precocious ...	ORPHA:786
Congenital Myasthenic Syndromes With Glycosylation Defect	Joint laxity, Lumbar hyperlordosis, Flexion contracture, Knee flexion contracture, High palate, S...	ORPHA:353327
Three M Syndrome 3	Small for gestational age, Short stature, Hyperlordosis, Short neck, Increased vertebral height, ...	OMIM:614205
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:616222
Glucocorticoid Deficiency 2	Recurrent hypoglycemia, Decreased circulating cortisol level, Increased circulating ACTH level	OMIM:607398
Fucosidosis	Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies...	OMIM:230000
Esophagitis, Eosinophilic, 2	Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive	OMIM:610247
Atypical Werner Syndrome	Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Hyperglycemia, Retinal ...	ORPHA:79474
Non-Specific Early-Onset Epileptic Encephalopathy	Failure to thrive, Optic atrophy, Retinal degeneration	ORPHA:442835
Typical Nemaline Myopathy	Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Micrognathia, High pal...	ORPHA:171436
Malonyl-Coa Decarboxylase Deficiency	Hypoglycemia	OMIM:248360
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Hypoadrenocorticism, Familial	Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency	OMIM:240200
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Broad jaw, Small for gestational age, Hypoglycemia, Exaggerated cupid's bow, Micrognathia, Wide m...	OMIM:614501
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Ptosis, Slender build, Hyperlordosis	OMIM:615156
Usmani-Riazuddin Syndrome, Autosomal Dominant	Lumbar hyperlordosis, Thoracic kyphosis, Hooded eyelid, Long philtrum	OMIM:619467
Alstrom Syndrome	Alopecia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ...	OMIM:203800
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Patent ductus arteriosus, Osteoporosis, Cleft palate, Growth delay...	OMIM:612562
Immunodeficiency, Common Variable, 10	Hypoglycemia, Decreased response to growth hormone stimulation test, Alopecia totalis, Central ad...	OMIM:615577
Fanconi-Bickel Syndrome	Osteopenia, Diabetes mellitus, Impaired glucose tolerance, Rickets, Fasting hypoglycemia, Glycosu...	ORPHA:2088
Hurler Syndrome	Aortic regurgitation, Inguinal hernia, Corneal opacity, Flexion contracture, Hirsutism, Cardiomyo...	OMIM:607014
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Bosma Arhinia Microphthalmia Syndrome	Inguinal hernia, Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Cryptorchidism, Synop...	OMIM:603457
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Noonan Syndrome 1	Male infertility, Epicanthus, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Micrognat...	OMIM:163950
Ciliary Dyskinesia, Primary, 50	Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella...	OMIM:620356
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Severe short stature, Limb joint contracture, Abnor...	ORPHA:93314
Joubert Syndrome 37	Lumbar hyperlordosis, Cryptorchidism, Obesity, High palate, Sparse hair, Decreased testicular siz...	OMIM:619185
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Brain abscess, Acute colitis, Diabetes mellitus, Pneumonia, Abdominal pain, Int...	ORPHA:544482
Axial Spondylometaphyseal Dysplasia	Cataract, Retinal dystrophy, Peripheral retinal degeneration, Optic atrophy, Rod-cone dystrophy	ORPHA:168549
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Joint laxity, Scoliosis, Ankle flexion contracture, Hyperlordosis	OMIM:617760
Thoracomelic Dysplasia	Hyperlordosis, Short neck, Low posterior hairline, Joint hyperflexibility, Disproportionate short...	ORPHA:1803
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Generalized joint laxity, Lumbar hyperlordosis, Short stature	OMIM:609325
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R...	ORPHA:85167
Deeah Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Short neck,...	OMIM:619004
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased pr...	OMIM:619652
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Macular degeneration, Cataract	OMIM:619780
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Hypoglycemia, Cachexia, Micrognathia, Narrow palate, Joint hyperf...	ORPHA:109
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Chromosome 10Q26 Deletion Syndrome	Omphalocele, Thin upper lip vermilion, Epicanthus, Lumbar hyperlordosis, Small for gestational ag...	OMIM:609625
Spondyloenchondrodysplasia	Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Kyphosis, Denta...	ORPHA:1855
Glycogen Storage Disease Ixd	Hypoglycemia	OMIM:300559
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Bilateral ptosis, Insulin resistance, Hyperinsulinemia, Retrograde ejaculation	ORPHA:230
Hereditary Methemoglobinemia	Athetosis, Methemoglobinemia, Limb dystonia	ORPHA:621
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Timothy Syndrome	Microdontia, Thin upper lip vermilion, Hypoglycemia, Hypothyroidism	OMIM:601005
Acrocapitofemoral Dysplasia	Short stature, Ovoid vertebral bodies, Scoliosis, Hyperlordosis	ORPHA:63446
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Lacrimal duct stenosis, Carious teeth, Periorbital dermoid cyst, Dental malocc...	OMIM:615560
Riddle Syndrome	Generalized lymphadenopathy, Short stature, Pneumonia, Abdominal pain, Diarrhea, Recurrent pneumo...	ORPHA:420741
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Umbilical hernia, Inguinal hernia, Hypoglycemia, Elbow contracture	OMIM:620275
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Inguinal hernia, Absent eyelashes, Abnormality of the endocrine system,...	ORPHA:166035
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Intellectual Developmental Disorder, Autosomal Dominant 45	Neonatal hypoglycemia, Slender build, Scoliosis	OMIM:617600
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Joint laxity, Hyperlordosis, Limited elbow extension, Limited knee extension, ...	OMIM:618870
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Late Infantile Neuronal Ceroid Lipofuscinosis	Astigmatism, Retinal degeneration	ORPHA:168491
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo...	ORPHA:67043
Jansen-De Vries Syndrome	Short stature, Hyperlordosis, Central diaphragmatic hernia, Feeding difficulties, Gastroesophagea...	OMIM:617450
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Short neck, High, narrow palate, Deep philtrum, Low anterior hairline, Dow...	OMIM:619950
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Dysmenorrhea, Ketotic hypoglycemia, Irregular menstruation, Increased body weight, Osteoporosis, ...	ORPHA:79240
Cog8-Cdg	Failure to thrive, Hypoglycemia	ORPHA:95428
Intellectual Developmental Disorder, Autosomal Dominant 29	Thin upper lip vermilion, Lumbar hyperlordosis, Dental crowding, Hyperlordosis, Cryptorchidism, S...	OMIM:616078
Carpenter Syndrome 2	Short neck, Bilateral cryptorchidism, High, narrow palate, Ectropion of lower eyelids, Low anteri...	OMIM:614976
Carnitine Deficiency, Systemic Primary	Impaired gluconeogenesis, Recurrent hypoglycemia, Failure to thrive	OMIM:212140
Martsolf Syndrome 1	Joint laxity, Inguinal hernia, Lumbar hyperlordosis, Thoracic scoliosis, Hypogonadotropic hypogon...	OMIM:212720
Multiple Sulfatase Deficiency	Corneal opacity, Retinal degeneration	OMIM:272200
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Short stature, Hyperlordosis, Osteolysis, Increased susceptibility to fractures, Abnormality of t...	ORPHA:52430
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Multiple Endocrine Neoplasia, Type Iib	Colonic diverticula, Joint laxity, Failure to thrive in infancy, Aganglionic megacolon, Hyperlord...	OMIM:162300
Bangstad Syndrome	Abnormality of the dentition, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased c...	ORPHA:1227
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Folate-dependent fragile site at Xq28, Decreased serum insulin-like growth factor 1, Elevated cir...	ORPHA:85327
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Impaired gluconeogenesis, Hypoglycemia, Fasting hypoglycemia	OMIM:261680
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,...	OMIM:151660
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Lumbar hyperlordosis, Flexion contracture	OMIM:613723
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Retinal atrophy, Hypogonadism, Type II diabetes mellitus, Type I diabetes mellitus, Del...	ORPHA:412057
Myopathy, Distal, 1	Lumbar hyperlordosis, High palate, Scoliosis	OMIM:160500
Senior-Loken Syndrome 9	Retinal dystrophy, Obesity, Macular degeneration, Hypogonadism, Rod-cone dystrophy	OMIM:616629
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Joint stiffness, Flexion co...	OMIM:609069
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Ectropion of lower ey...	OMIM:615873
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Kyphosis, Pituitary adenoma, Osteoporosis, Obesity, Increased circula...	OMIM:219090
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Chronic mucocutane...	OMIM:269200
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, A...	ORPHA:95494
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati...	OMIM:620103
Hypoglossia With Situs Inversus	Asplenia, Feeding difficulties in infancy, Malnutrition, High palate, Polysplenia, Microglossia	OMIM:612776
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Psoriasiform dermatitis, Hyperlordosis, Diarrhea, Hypertrichosis, Abnormal T cell sub...	ORPHA:221139
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Childhood-o...	OMIM:184100
Linear Iga Dermatosis	Inflammation of the large intestine	ORPHA:46488
Scleroderma, Familial Progressive	Chromosome breakage, Abnormality of chromosome stability	OMIM:181750
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia, Long philtrum	OMIM:617710
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Pancolitis, Bloody di...	OMIM:618213
Combined Oxidative Phosphorylation Defect Type 39	Cryptorchidism, Congenital foot contractures, Scoliosis, Open mouth, Neonatal hypoglycemia	ORPHA:565624
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Lumbar hyperlordosis, Micrognathia, Cryptorchidism, Delayed ossification of pubic rami, High pala...	OMIM:602471
Pfeiffer Syndrome	Mandibular prognathia, Hyperlordosis, Short neck, High palate, Short philtrum, Hypoplasia of the ...	ORPHA:710
Aica-Ribosuria Due To Atic Deficiency	Wide mouth, Thin upper lip vermilion, Hypoglycemia	OMIM:608688
Kindler Epidermolysis Bullosa	Recurrent skin infections, Camptodactyly of finger, Abnormal dental enamel morphology, Esophageal...	ORPHA:2908
Myopathy, Scapulohumeroperoneal	Hyperlordosis, Achilles tendon contracture, Scoliosis, Increased connective tissue	OMIM:616852
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Alopecia, Conjunctivitis, Sparse hair, Failure to thrive	OMIM:242150
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Hyperlord...	ORPHA:3353
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Supernumerary nipple, Patchy atrophy of the retinal pigment ...	ORPHA:1433
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Myopathy, Myofibrillar, 7	Tongue atrophy, Lumbar hyperlordosis, Multiple joint contractures, Limited hip extension, Bowel i...	OMIM:617114
Anauxetic Dysplasia 1	Mandibular prognathia, Hip contracture, Joint laxity, Lumbar hyperlordosis, Short neck, Limited e...	OMIM:607095
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Lumbar hyperlordosis, Ankle flexion contracture	OMIM:613818
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin	OMIM:617885
Spondyloepimetaphyseal Dysplasia, Irapa Type	Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthritis, Disproportionat...	OMIM:271650
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Paget Disease Of Bone 5, Juvenile-Onset	Macular scar, Angioid streaks of the fundus, Failure to thrive, Retinopathy, Retinal degeneration	OMIM:239000
Fanconi Anemia, Complementation Group U	Growth delay, Chromosome breakage, Patent ductus arteriosus	OMIM:617247
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Epicanthus, Abnormal form of the vertebral bodies, Hyperlordosis	ORPHA:2831
Spondyloepiphyseal Dysplasia Congenita	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow movement, Short nec...	ORPHA:94068
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microretrognathia, Epicanthus, Failure to thrive in infancy, Hypoglycemia, Joint hypermobility, P...	OMIM:619418
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis	OMIM:615947
Alg12-Cdg	Thin upper lip vermilion, Epicanthus, Decreased serum insulin-like growth factor 1, Micrognathia,...	ORPHA:79324
Trichothiodystrophy	Sparse scalp hair, Brittle hair, Multiple joint contractures, Absence of subcutaneous fat, Develo...	ORPHA:33364
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Choroidal neovascularization, Angina pectoris, Congestive heart fail...	OMIM:264800
Perlman Syndrome	Everted upper lip vermilion, Tented upper lip vermilion, Hypoglycemia, Congenital diaphragmatic h...	OMIM:267000
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Reduced bone min...	ORPHA:289548
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t...	OMIM:183900
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P...	OMIM:131100
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Hypoglycemia, Scoliosis, Failure to thrive, Neonatal hypoglycemia	OMIM:619055
Williams-Beuren Syndrome	Osteopenia, Flexion contracture, Premature graying of hair, Glucose intolerance, Early onset of s...	OMIM:194050
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating luteinizing hormon...	ORPHA:168558
Acute Adrenal Insufficiency	Decreased circulating cortisol level, Decreased female libido, Hypoglycemia, Adrenal hypoplasia, ...	ORPHA:95409
Saethre-Chotzen Syndrome	Proximal radio-ulnar synostosis, Epicanthus, Craniosynostosis, Hyperlordosis, Hypoplasia of the m...	ORPHA:794
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Short neck, High, narrow palate, Gastrointestinal inflammation, Reduced bone mineral ...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Short neck, High, narrow palate, Gastrointestinal inflammation, Reduced bone mineral ...	ORPHA:99228
Monosomy X	Osteopenia, Short neck, High, narrow palate, Gastrointestinal inflammation, Reduced bone mineral ...	ORPHA:99226
Turner Syndrome	Osteopenia, Short neck, High, narrow palate, Gastrointestinal inflammation, Reduced bone mineral ...	ORPHA:881
Meningioma	Back pain, Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neo...	ORPHA:2495
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Increased circulating AC...	ORPHA:90790
Mosaic Variegated Aneuploidy Syndrome 4	Abnormality of chromosome stability	OMIM:620153
Alexander Disease	Osteopenia, Diabetes mellitus, Hyperlordosis, Short neck, Kyphosis, Precocious puberty, High pala...	ORPHA:58
Angelman Syndrome	Keratoconus, Optic disc pallor, Precocious puberty in females, Optic atrophy, Obesity, Astigmatis...	ORPHA:72
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Failure to thrive, Hypoglycemia	OMIM:210200
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro...	ORPHA:90041
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia	OMIM:618838
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair, Male hypogonad...	ORPHA:90793
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Retinal atrophy, Retinal dystrophy	ORPHA:370022
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Joint laxity, Natal tooth, Dental crowding, Carious teeth, Cryptorchidism, Supernumerary tooth, T...	ORPHA:353281
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Cataract, Corneal opacity, Retinal atrophy, Optic nerve hypoplasia, Optic atr...	OMIM:236670
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Inguinal hernia, Severe short stature, Abnormality of subcutaneous fat tissue, Osteom...	ORPHA:1901
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Back pain, Joint laxity, Lumbar hyperlordosis, Decreased response to growth hormone stimulation t...	OMIM:619234
Microphthalmia, Lenz Type	Delayed eruption of teeth, Abnormal dental morphology, Camptodactyly of finger, Hyperlordosis, Ab...	ORPHA:568
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Back pain, Paget disease of bone, Lumbar hyperlordosis	OMIM:167320
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Abnormal ovarian physiology, Premature adrenarche, Hypogona...	ORPHA:90794
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Increased intervertebral space, T lymphocytopenia, Abnormality of the cer...	ORPHA:508533
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Spondyloarthropathy, Susceptibility To, 1	Back pain, Anterior uveitis, Psoriasiform dermatitis, Kyphosis, Oligoarthritis, Enthesitis, Sacro...	OMIM:106300
Frontorhiny	Pericallosal lipoma, Epicanthus, Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the...	ORPHA:391474
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Rhizomelia, Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyl...	OMIM:618019
Satoyoshi Syndrome	Hyperlordosis, Nephrogenic diabetes insipidus, Abnormal hair morphology, Sparse or absent eyelash...	ORPHA:3130
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Lumbar hyperlordosis, Disproportionate short stature, Irregular vertebral endplates, Platyspondyl...	OMIM:609616
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Infantile Liver Failure Syndrome 2	Hypoglycemia	OMIM:616483
Acth Deficiency, Isolated	Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,...	OMIM:201400
Iga Pemphigus	Neutrophilic infiltration of the skin, Eosinophilia, Pustule, Ulcerative colitis, Cutaneous abscess	ORPHA:555905
Nijmegen Breakage Syndrome	Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Anal stenosis, Short statu...	ORPHA:647
Spastic Paraplegia 15, Autosomal Recessive	Macular degeneration, Retinal degeneration	OMIM:270700
Carnitine Palmitoyl Transferase 1A Deficiency	Hypoglycemia	ORPHA:156
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Sparse eyelashes, Sparse eyebrow, Failure to thrive, Hypoketotic hypoglycemia	OMIM:610768
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Hypoglycemia	OMIM:251000
Aceruloplasminemia	Abnormality of retinal pigmentation, Diabetes mellitus, Congestive heart failure, Macular degener...	ORPHA:48818
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg...	ORPHA:411696
Neuropathy, Congenital, With Arthrogryposis Multiplex	Arthrogryposis multiplex congenita, Hyperlordosis	OMIM:162370
Glycogen Storage Disease Ixc	Hypoglycemia, Fasting hypoglycemia	OMIM:613027
Cockayne Syndrome Type 3	Optic disc pallor, Dry hair, Cataract, Retinal atrophy, Retinal dystrophy, Flexion contracture, S...	ORPHA:90324
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Small for gestational age, Hypoglycemia, Cryptorchidism, Osteoporosis,...	OMIM:307030
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Multiple Acyl-Coa Dehydrogenase Deficiency	Telecanthus, Hypoglycemia, Hyperlordosis	ORPHA:26791
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Lumbar hyperlordosis, Rhizomelia, Kyphoscoliosis, Laryngotracheomalacia, Congenital h...	OMIM:271510
Costello Syndrome	Keratoconus, Failure to thrive in infancy, Abnormal dental enamel morphology, Abnormal hair morph...	ORPHA:3071
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Decreased fumarate hydratase acti...	OMIM:606812
Pseudoachondroplasia	Joint laxity, Lumbar hyperlordosis, Limited hip extension, Hypoplasia of the odontoid process, Ky...	OMIM:177170
Alagille Syndrome	Keratoconus, Telangiectasia of the skin, Corneal dystrophy, Abnormal pupil morphology, Hypertensi...	ORPHA:52
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia, Recurrent otitis media	OMIM:618948
Gapo Syndrome	Keratoconus, Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Optic atrophy, Hypogonadi...	ORPHA:2067
Menkes Disease	Inguinal hernia, Osteomyelitis, Hypoglycemia, Recurrent fractures, Tarsal synostosis, Micrognathi...	ORPHA:565
Glycogen Storage Disease Ic	Hepatomegaly, Stomatitis, Cyclic neutropenia, Hypoglycemia, Chronic pancreatitis, Gout, Inflammat...	OMIM:232240
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	ORPHA:412
Abetalipoproteinemia	Retinopathy, Retinal degeneration	OMIM:200100
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Osteomalacia, Rickets, Fasting hypoglycemia, Glycosuria, Pos...	OMIM:227810
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Failure to thrive...	ORPHA:71212
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Increased bone mineral density, Cortical sclerosis, Postnatal growth retarda...	OMIM:620366
D-Glyceric Aciduria	Failure to thrive, Hypoglycemia	OMIM:220120
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Cholestasis, Progressive Familial Intrahepatic, 5	Failure to thrive, Hypoglycemia	OMIM:617049
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Patent ductus arteri...	ORPHA:210122
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy...	ORPHA:913
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Congenital diaphragmatic hernia, Short neck, High, narrow palate, Vertebra...	ORPHA:373
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Inguinal hernia, Osteoarthritis of the small joints of the hand, Camptodactyly of f...	ORPHA:284984
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Scoliosis	OMIM:607155
Fanconi Anemia	Reduced bone mineral density, Leukopenia, Abnormality of the liver, High palate, Abnormality of t...	ORPHA:84
Glycogen Storage Disease Ia	Hypoglycemia, Osteoporosis, Gout, Xanthelasma, Fasting hypoglycemia, Delayed puberty	OMIM:232200
Steel Syndrome	Lumbar hyperlordosis, Short stature, Scoliosis, Carpal synostosis, Limited elbow extension	OMIM:615155
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Hyphema, Leukocoria, Microcor...	OMIM:221900
Monosomy 22Q13.3	Sacral dimple, Epicanthus, Palpebral edema, Dental crowding, Dental malocclusion, Obesity, Long e...	ORPHA:48652
Nephronophthisis 11	Anisocoria, Retinal degeneration	OMIM:613550
Mucopolysaccharidosis Type 3	Inguinal hernia, Cataract, Corneal opacity, Thick hair, Synophrys, Flexion contracture, Optic atr...	ORPHA:581
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia	ORPHA:96184
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Lumbar hyperlordosis, Thick hair, Short neck, Joint stiffness, Thrombocytopenia, Patent ductus ar...	ORPHA:505248
Hypochondroplasia	Malar flattening, Widened interpedicular distance, Lumbar hyperlordosis, Limited elbow extension	OMIM:146000
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Myotonia Permanens	Limitation of joint mobility, Short stature, Dysphagia, Hyperlordosis	ORPHA:99735
Congenital Isolated Acth Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Hypoglycemic seizures, Adrenocorticotro...	ORPHA:199296
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Frontometaphyseal Dysplasia 2	Hip contracture, Thick eyebrow, Elbow contracture, Feeding difficulties in infancy, Pyloric steno...	OMIM:617137
Facioscapulohumeral Dystrophy	Abnormal eyelash morphology, Palpebral edema, Hyperlordosis	ORPHA:269
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Hyperlordosis, High palate, Narrow mouth, Retrognathia, Bifid uvula	ORPHA:169186
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Hyperlordosis, Achilles tendon contracture, Recurrent pneumonia, Cleft palate,...	OMIM:620249
Papillorenal Syndrome	Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op...	OMIM:120330
Congenital Factor Xiii Deficiency	Myeloid leukemia, Hepatic failure, Joint hemorrhage, Inflammation of the large intestine	ORPHA:331
Stiff Person Spectrum Disorder	Diabetes mellitus, Lumbar hyperlordosis, Hypothyroidism	ORPHA:3198
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Inguinal hernia, Hyperlordosis, Short neck, Nasolacrimal duct obstruction, Abnormal form of the v...	ORPHA:3218
Gapo Syndrome	Keratoconus, Alopecia, Sparse eyelashes, Retinal arteriolar tortuosity, Sparse eyebrow, Optic atr...	OMIM:230740
X-Linked Acrogigantism	Increased body mass index, Decreased thyroid-stimulating hormone level, Enlarged pituitary gland,...	ORPHA:300373
Kniest Dysplasia	Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Rhegmatogenous retinal detachment, ...	ORPHA:485
Desbuquois Dysplasia 2	Joint laxity, Epicanthus, Lumbar hyperlordosis, Dental crowding, Short neck, Synophrys, Advanced ...	OMIM:615777
Achondroplasia	Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Kyphosis, Disproportionate short statu...	ORPHA:15
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Epicanthus, Tented upper lip vermilion, Thoracolumbar scoliosis, Kyphoscoliosis, Hype...	ORPHA:457395
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Mandibular prognathia, Cystic angiomatosis of bone, Diabetes...	OMIM:608594
Koolen-De Vries Syndrome Due To A Point Mutation	Decreased response to growth hormone stimulation test, Pineal cyst, Abnormal social behavior, Hyp...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Pineal cyst, Abnormal social behavior, Hyp...	ORPHA:363958
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hypoglycemia	OMIM:246450
Atelis Syndrome 2	Epicanthus, Sacral dimple, Micrognathia, Diastema, Kyphosis, Thick lower lip vermilion, Hyperinsu...	OMIM:620185
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hypoglycemia	OMIM:201450
Mosaic Trisomy 9	Intestinal malrotation, Camptodactyly of finger, Short neck, Asplenia, Patent ductus arteriosus, ...	ORPHA:99776
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Inguinal hernia, Small for gestational age, Hypoglycemia, Rickets, Redu...	OMIM:613658
Glutaric Acidemia I	Failure to thrive, Hypoglycemia	OMIM:231670
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Joint laxity, Failure to thrive, Small for gestational age, Hypoglycemia	OMIM:617093
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Maple Syrup Urine Disease	Hypoglycemia	OMIM:248600
Revesz Syndrome	Abnormality of chromosome stability, Aplastic anemia, Fine hair, Bone marrow hypocellularity, Nai...	OMIM:268130
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Increased inflammatory response, Pericarditis, Lumbar hyperlordosis, Camptodactyly of finger, Kne...	ORPHA:2848
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hypoketotic hypoglycemia	OMIM:600649
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Mandibular prognathia, Cystic angiomatosis of bone, Lipodyst...	OMIM:269700
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Albinism, Abdominal pain, Hematochezia, Inflammation of the large intes...	OMIM:203300
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Nonketotic hypoglycemia, Hypoglycemia, Elbow flexion contracture, Narrow palate, Knee flexion con...	OMIM:608836
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Hypoglycemia	OMIM:618835
Holoprosencephaly 9	Hypoplasia of the premaxilla, Decreased response to growth hormone stimulation test, Cleft upper ...	OMIM:610829
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Hypoglycemia	OMIM:618839
Woodhouse-Sakati Syndrome	Osteopenia, Alopecia, Streak ovary, Premature ovarian insufficiency, Decreased response to growth...	ORPHA:3464
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Short neck, Micrognathia, Sparse hair, Lumbar hyper...	OMIM:305450
9Q31.1Q31.3 Microdeletion Syndrome	Hypercholesterolemia	ORPHA:401923
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Hypoglycemia, Portal hypertension, Feeding difficulties in infancy, Splenomegaly, M...	OMIM:251880
Multiple Acyl-Coa Dehydrogenase Deficiency	Telecanthus, Hypoglycemia, Glycosuria	OMIM:231680
Carnitine-Acylcarnitine Translocase Deficiency	Hypoglycemia, Neonatal hypoglycemia	OMIM:212138
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Back pain, Hyperlordosis	OMIM:618129
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Recurrent skin infections, Short stature, Hypoglycemia, Malabsorption, Herpes simpl...	OMIM:233600
Isolated Complex I Deficiency	Diabetes mellitus, Failure to thrive, Hypoglycemia, Ptosis	ORPHA:2609
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Nail-Patella Syndrome	Back pain, Lumbar hyperlordosis, Contracture of the distal interphalangeal joint of the fingers, ...	ORPHA:2614
Metaphyseal Chondrodysplasia, Schmid Type	Lumbar hyperlordosis, Obesity, Irregular vertebral endplates, Platyspondyly, Osteosclerosis of ri...	ORPHA:174
Farber Disease	Corneal opacity, Flexion contracture, Macular degeneration, Abnormal conjunctiva morphology, Opac...	ORPHA:333
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Keratoconus, Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin	OMIM:609438
Stiff-Person Syndrome	Exaggerated startle response, Anemia, Opisthotonus	OMIM:184850
Congenital Disorder Of Glycosylation, Type It	Decreased serum insulin-like growth factor 1, Hypoglycemia, Micrognathia, Pierre-Robin sequence, ...	OMIM:614921
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Alopecia, Dec...	ORPHA:293978
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Partial Androgen Insensitivity Syndrome	Male infertility, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Incre...	ORPHA:90797
Mucopolysaccharidosis, Type X	Hyperlordosis, Diastema, Open bite, Platyspondyly, Posterior scalloping of vertebral bodies, Wide...	OMIM:619698
Smith-Mccort Dysplasia 2	Short stature, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Disproportionate sh...	OMIM:615222
Otospondylomegaepiphyseal Dysplasia	Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Micrognathia, Osteoarthritis, Li...	ORPHA:1427
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypoglycemia, Macular coloboma, Pulmonary embolism, Dilated cardiomyopathy, Optic atrophy, Subdur...	ORPHA:79282
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia, Leukocytosis	ORPHA:90065
Fructose-1,6-Bisphosphatase Deficiency	Fasting hypoglycemia, Hypoglycemia, Neonatal hypoglycemia	ORPHA:348
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Laterally extended eyebrow, Synophrys, Low anterior hairline, Hirsutism, Buphthalmos, Keratoconju...	OMIM:618479
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Abnormal hair morphology, Oligozoospermia, Macroorchidism	ORPHA:3000
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Anorexia, Splenomegaly, Iridocyclitis, M...	OMIM:181000
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Lumbar hyperlordosis, Micrognathia, Flexion contracture, Pierre-Robin sequence, Premature osteoar...	OMIM:215150
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Failure to thrive, Hypoglycemia	OMIM:210210
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Dystonia 1, Torsion, Autosomal Dominant	Multiple joint contractures, Hyperlordosis, Kyphosis, Blepharospasm, Scoliosis	OMIM:128100
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Joint laxity, Dental malocclusion, High palate, Malar flattening, Spontaneous conjunctival filter...	OMIM:601552
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Hypogonadotropic hypogonadism, Diastema, Cryptorchidism, Kyphos...	OMIM:619718
Renal Agenesis, Bilateral	Nonketotic hypoglycemia, Epicanthus, Abnormal sacrum morphology, Non-midline cleft lip, Cleft palate	ORPHA:1848
Leprechaunism	Reduced subcutaneous adipose tissue, Facial hypertrichosis, Insulin resistance, Hyperinsulinemia,...	ORPHA:508
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating cortisol level, Hemivertebrae, Decreased circulating renin level, Cryptorch...	OMIM:201750
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Hypoplasia of the retina, Retinal dysplasi...	OMIM:253280
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t...	OMIM:208540
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Anterior open-bite malocclusion, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:83601
Arterial Tortuosity Syndrome	Keratoconus, Aortic regurgitation, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus herni...	OMIM:208050
Leigh Syndrome	Ptosis, Alopecia, Multiple joint contractures, Hypoglycemia, Frontal hirsutism, Failure to thrive...	ORPHA:506
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Hypoketotic hypoglycemia	OMIM:231530
Bethlem Myopathy	Multiple joint contractures, Lumbar hyperlordosis, Interphalangeal joint contracture of finger, A...	ORPHA:610
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyelashes, Sparse eyebrow, Hypoautofluorescent retinal lesion, Sparse hair, High anterior ...	OMIM:250410
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnormal intrahepatic bile duct morph...	ORPHA:562639
Spermatogenic Failure 38	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h...	OMIM:618433
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue atrophy, Tongue fasciculations, Scoliosis, Hyperlordosis	OMIM:620285
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypoglycemia	OMIM:611126
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Limited knee flexion, Lumbar hyperlordosis	ORPHA:435387
Spermatogenic Failure 14	Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti...	OMIM:615842
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Flexion contracture, Hyperlordosis	OMIM:611588
Plague	Glossitis, Chapped lip, Hepatomegaly, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Sple...	ORPHA:707
Beta-Ketothiolase Deficiency	Hyperglycemia, Hypoglycemia, Weight loss	ORPHA:134
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Knobloch Syndrome	Retinal detachment, Cataract, Ectopia lentis, Abnormal hair morphology, Abnormal vitreous humor m...	ORPHA:1571
Metaphyseal Chondrodysplasia, Schmid Type	Lumbar hyperlordosis, Short stature, Proportionate short stature, Irregular vertebral endplates, ...	OMIM:156500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Flexion contracture, Pneumonia, Scoliosis, Hyperlordosis	OMIM:253700
Focal Dermal Hypoplasia	Brittle hair, Congenital diaphragmatic hernia, Oligodontia, Sparse hair, Spina bifida occulta, Jo...	OMIM:305600
Fraser Syndrome 1	Absent eyebrow, Dental crowding, Cleft upper lip, Absent eyelashes, Cryptorchidism, Dental malocc...	OMIM:219000
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Inguinal hernia, Corneal opacity, Abnormal fove...	ORPHA:580
Reactive Arthritis	Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Joint stiffness, Diarrhea, Enthesitis, Weig...	ORPHA:29207
Sandifer Syndrome	Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ...	ORPHA:71272
Bloom Syndrome	Male infertility, Premature ovarian insufficiency, Small for gestational age, Sparse eyelashes, D...	ORPHA:125
Acquired Generalized Lipodystrophy	Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Unicameral bone cyst, ...	ORPHA:79086
Costello Syndrome	Hyperextensibility of the finger joints, Epicanthus, Curly hair, Hypoglycemia, Limited elbow move...	OMIM:218040
Distal Deletion 10Q	Thin upper lip vermilion, Epicanthus, Lumbar hyperlordosis, Craniosynostosis, Micrognathia, Widow...	ORPHA:96148
Mitochondrial Trifunctional Protein Deficiency 1	Failure to thrive, Small for gestational age, Hypoketotic hypoglycemia	OMIM:609015
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Mandibular prognathia, Joint laxity, Hyperlordosis, Sparse eyebrow, Kyphosis, Large for gestation...	OMIM:617011
3-Methylglutaconic Aciduria, Type Viib	Trismus, Flexion contracture, Neonatal hypoglycemia, Micrognathia	OMIM:616271
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Inguinal hernia, Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Kypho...	OMIM:253200
Cardiofacioneurodevelopmental Syndrome	Asplenia, Kyphosis, Feeding difficulties in infancy, Cleft palate, Abdominal situs inversus, Camp...	OMIM:619123
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Abdominal pain, Lumbar hyperlordosis, Scoliosis, Spinal rigidity	ORPHA:86812
Osteopetrosis, Autosomal Recessive 3	Osteopetrosis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis	OMIM:259730
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Macular degeneration, Choroidal neovascularization	ORPHA:404451
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Short stature, Postnatal growth r...	OMIM:617827
Multiple Endocrine Neoplasia Type 2	Elevated circulating parathyroid hormone level, Pheochromocytoma, Ganglioneuromatosis, Joint laxi...	ORPHA:653
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Joint laxity, Diabetes mellitus, Cholestasis, Feeding difficulties, Growth delay, Hepatosplenomeg...	ORPHA:541423
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia	OMIM:229700
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes...	ORPHA:275761
Complete Androgen Insensitivity Syndrome	Male infertility, Testicular neoplasm, Elevated circulating luteinizing hormone level, Bilateral ...	ORPHA:99429
Mannosidosis, Alpha B, Lysosomal	Inguinal hernia, Low anterior hairline, Retinal degeneration, Thick eyebrow, Hypertrichosis	OMIM:248500
Dyggve-Melchior-Clausen Disease	Lumbar hyperlordosis, Multicentric ossification of proximal femoral epiphyses, Short neck, Postna...	OMIM:223800
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Le...	OMIM:300972
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ...	OMIM:619949
Sweeney-Cox Syndrome	Asplenia, Patent ductus arteriosus, Velopharyngeal insufficiency, Low anterior hairline, Widow's ...	OMIM:617746
Ring Chromosome 12 Syndrome	Lumbar hyperlordosis, Small for gestational age, Acne, High, narrow palate, Growth delay, Dystrop...	ORPHA:1439
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Inguinal hernia, Block vertebrae, Tarsal synostosis, Short neck, Hyperlordosis,...	OMIM:272460
Primary Ciliary Dyskinesia	Intestinal malrotation, Asplenia, Bronchiectasis, Recurrent otitis media, Polysplenia, Chronic rh...	ORPHA:244
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Lumbar hyperlordosis, Rhizomelia, Severe short stature, Bowel incontinence, Kyphos...	OMIM:616482
Combined Oxidative Phosphorylation Deficiency 37	Failure to thrive, Hypoglycemia	OMIM:618329
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Congenital diaphragmatic hernia, Vertebral segmentation defect, Exaggerate...	OMIM:312870
Spermatogenic Failure, X-Linked, 4	Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos...	OMIM:301077
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hypoglycemia, Flexion contracture, Orofacial cleft, Failure to thrive, Ptosis	ORPHA:17
Mitochondrial Trifunctional Protein Deficiency 2	Hypoglycemia	OMIM:620300
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Zollinger-El...	ORPHA:276152
Pelvis-Shoulder Dysplasia	Lumbar hyperlordosis, Camptodactyly of finger, Micrognathia, Prominent protruding coccyx, Abnorma...	ORPHA:2839
Fraser Syndrome	Omphalocele, Dental crowding, Abnormal hair pattern, Cleft upper lip, Cryptorchidism, Dental malo...	ORPHA:2052
Carnitine Palmitoyltransferase I Deficiency	Hypoketotic hypoglycemia	OMIM:255120
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Arterial Tortuosity Syndrome	Keratoconus, Inguinal hernia, Femoral hernia, Telangiectasia of the skin, Myocardial infarction, ...	ORPHA:3342
Alport Syndrome	Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Macular degeneration, Hy...	ORPHA:63
Maternal Uniparental Disomy Of Chromosome 2	Contractures of the large joints, Hypothyroidism, Decreased response to growth hormone stimulatio...	ORPHA:96179
Joubert Syndrome 6	Retinal degeneration, Chorioretinal coloboma	OMIM:610688
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob...	ORPHA:261529
Muscular Dystrophy, Duchenne Type	Hyperlordosis, Achilles tendon contracture, Flexion contracture, Hamstring contractures, Knee fle...	OMIM:310200
Neuhauser Syndrome	Hypercholesterolemia	OMIM:249310
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Atrophic scars, Scoliosis, Join...	OMIM:617821
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Keratoconus, Retinal detachment, Inguinal hernia, Gastrointestinal hemorrhage, Congestive heart f...	OMIM:225400
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot...	OMIM:616959
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Inguinal hernia, Short stature, Megaloblastic anemia, Abnormality of hair texture, Feeding diffic...	ORPHA:79351
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Decreased respon...	OMIM:619503
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Short neck, Flexion contracture, Irregular vertebral endplates, High palat...	OMIM:143095
Esophageal Atresia	Maternal diabetes, Feeding difficulties in infancy, Gastrointestinal dysmotility, Anorectal anoma...	ORPHA:1199
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Lumbar hyperlordosis, Ovoid vertebral bodies, Platyspondyly, Disproportionate short-limb short st...	OMIM:608728
47,Xyy Syndrome	Male infertility, Cryptorchidism, Increased circulating gonadotropin level, Oligozoospermia, Azoo...	ORPHA:8
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Compensated hypothyroidism, Hypoglycemia, Hypoglycemic seizures	ORPHA:480864
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Obstructive azoospermia	OMIM:301060
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Nail-Patella Syndrome	Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign	OMIM:161200
Pantothenate Kinase-Associated Neurodegeneration	Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Rod-cone dystrophy...	ORPHA:157850
Autosomal Recessive Spastic Paraplegia Type 11	Overweight, Orthostatic hypotension, Obesity, Retinal degeneration	ORPHA:2822
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ...	OMIM:613960
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Synophry...	OMIM:619636
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Sagittal craniosynostosis, Hyp...	OMIM:614188
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Hypoglycemia	OMIM:619355
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia, Failure to thrive	ORPHA:99901
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Hypothyroidism, Hypoglycemia, Premature thelarche, Premature pubarche	OMIM:616878
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Familial Renal Glucosuria	Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm...	ORPHA:69076
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Failure to thrive, Dental crowding, Ankle flexion contracture, Hyperlordosis, Ky...	ORPHA:2020
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Distal 22Q11.2 Microdeletion Syndrome	Thin upper lip vermilion, Inguinal hernia, Camptodactyly of finger, Highly arched eyebrow, Hyperl...	ORPHA:261330
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Hyperlordosis	OMIM:613157
Loeys-Dietz Syndrome 3	Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Joint laxity, Scoliosis, Uterine p...	OMIM:613795
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility, Recurrent sinusitis	OMIM:300991
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Overweight, Small for gestational age, Obesity, Hypoketotic hypoglycemia	ORPHA:26793
Acromesomelic Dysplasia 1	Joint laxity, Lumbar hyperlordosis, Ovoid vertebral bodies, Short nail, Disproportionate short st...	OMIM:602875
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Angioid st...	OMIM:177850
Cone-Rod Dystrophy And Hearing Loss 1	Macular degeneration, Retinal atrophy	OMIM:617236
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Joint laxity, Lumbar hyperlordosis, Short neck, Platyspondyly, Malar flatt...	OMIM:612813
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hypoglycemia, Upslanted palpebral fissure, Tongue fasciculations, Failure to thrive, Ptosis	OMIM:252010
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Failure to thrive in infancy, Hypoketotic hypoglycemia	ORPHA:746
Ciliary Dyskinesia, Primary, 1	Pneumonia, Asplenia, Bronchiectasis, Chronic rhinitis, Chronic otitis media, Chronic sinusitis	OMIM:244400
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormality of the temporomandibular joint, Hyperlordosis, Increased connective tissue, Protrudin...	ORPHA:258
Pyruvate Dehydrogenase E2 Deficiency	Retinal degeneration	ORPHA:79244
Dilated Cardiomyopathy With Ataxia	Bilateral cryptorchidism, Hypothyroidism, Neonatal hypoglycemia	ORPHA:66634
Achondroplasia	Lumbar hyperlordosis, Rhizomelia, Limited hip extension, Generalized joint laxity, Feeding diffic...	OMIM:100800
Tyrosinemia, Type I	Acute hepatic failure, Gastrointestinal hemorrhage, Hepatomegaly, Hypoglycemia, Splenomegaly, Hep...	OMIM:276700
Pseudoaminopterin Syndrome	Posterolateral diaphragmatic hernia, Sparse scalp hair, Inguinal hernia, Short stature, Limited e...	ORPHA:221120
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hypoketotic hypoglycemia	ORPHA:228305
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Hepatomegaly, Short stature, Hyperlordosis, Feeding difficulties, Esophagitis, Scoliosis, Intraut...	OMIM:615356
Carnitine-Acylcarnitine Translocase Deficiency	Fasting hypoglycemia, Hypoketotic hypoglycemia	ORPHA:159
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Brittle hair, Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Failure to thrive, Ptosis	OMIM:124000
3-Methylglutaconic Aciduria Type 7	Hypothyroidism, Neonatal hypoglycemia	ORPHA:445038
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Joint stiffness, Hypoplasia of the maxilla, Spinal canal stenosis, Narrow p...	OMIM:277600
Scapuloperoneal Spinal Muscular Atrophy	Kyphosis, Scoliosis, Hyperlordosis	OMIM:181405
Cocaine Intoxication	Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Tubulointerstitial n...	ORPHA:90068
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Generalized joi...	ORPHA:93357
Beckwith-Wiedemann Syndrome	Omphalocele, Mandibular prognathia, Inguinal hernia, Adrenocortical cytomegaly, Hypoglycemia, Con...	ORPHA:116
Low Phospholipid-Associated Cholelithiasis	Hypercholesterolemia	ORPHA:69663
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint laxity, Thin upper lip vermilion, Epicanthus, Lumbar hyperlordosis, Progressive flexion con...	ORPHA:522077
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters	OMIM:605808
Primary Fanconi Renotubular Syndrome	Hypoglycemia, Osteomalacia, Weight loss, Increased susceptibility to fractures, Glycosuria, Hypop...	ORPHA:3337
Occipital Horn Syndrome	Osteopenia, High, narrow palate, Coarse hair, Gastroesophageal reflux, Femoral hernia, Osteomalac...	ORPHA:198
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Ciliary Dyskinesia, Primary, 9	Male infertility, Chronic sinusitis, Recurrent sinusitis	OMIM:612444
Neurooculorenal Syndrome	Decreased circulating cortisol level, Ectopic posterior pituitary, Highly arched eyebrow, Microgn...	OMIM:620305
Cerebral Visual Impairment	Neonatal hypoglycemia	ORPHA:447788
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Wars2-Related Combined Oxidative Phosphorylation Defect	Thin upper lip vermilion, High palate, Neonatal hypoglycemia	ORPHA:572798
Ciliary Dyskinesia, Primary, 34	Male infertility, Recurrent sinusitis, Immotile sperm	OMIM:617091
Weill-Marchesani Syndrome 2	Lumbar hyperlordosis, Joint stiffness, Hypoplasia of the maxilla, Elbow flexion contracture, Spin...	OMIM:608328
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Lumbar hyperlordosis, Joint laxity, Short neck	ORPHA:171866
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90674
Heterotaxy, Visceral, 1, X-Linked	Omphalocele, Absence of the sacrum, Hepatomegaly, Block vertebrae, Asplenia, Posteriorly placed a...	OMIM:306955
Feingold Syndrome 1	Accessory spleen, Jejunal atresia, Asplenia, Esophageal atresia, Patent ductus arteriosus, Gastro...	OMIM:164280
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Smooth philtrum, Epicanthus, Lumbar hyperlordosis, Micrognathia, Cryptorchidism, Cleft lip, Widow...	OMIM:616975
Pure Mitochondrial Myopathy	Bilateral ptosis, Lumbar hyperlordosis, Scoliosis	ORPHA:254854
Pyruvate Carboxylase Deficiency	Hyperglycemia, Failure to thrive, Hypoglycemia	ORPHA:3008
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Recurrent hypoglycemia, Weight loss	ORPHA:20
Meckel Syndrome, Type 1	Accessory spleen, Omphalocele, Intestinal malrotation, Adrenal hypoplasia, Short neck, Asplenia, ...	OMIM:249000
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Steatorrhea, Persistence of hemoglobin F,...	OMIM:260400
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Small for gestational age, Hypoglycemia, Highly arched eyebrow, Micrognathia, Lo...	OMIM:220111
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia	OMIM:615751
Cholera	Hypoglycemia	ORPHA:173
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Short stature, Intestinal malrotation, Asplenia, Patent ductus arteriosus, High palate	OMIM:619657
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatomegaly, Hepatic steatosis, Hyperlordosis	ORPHA:369840
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Intestinal malrotation, Hiatus hernia, Abnormality of the spleen, Esophageal atresi...	ORPHA:2538
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Spinocerebellar Ataxia Type 7	Cone/cone-rod dystrophy, Congestive heart failure, Abnormal fundus morphology, Macular degenerati...	ORPHA:94147
Sandhoff Disease, Infantile Form	Exaggerated startle response, Hepatosplenomegaly	ORPHA:309155
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Failure to thrive, Hypoglycemia	OMIM:617156
Vici Syndrome	Hypopigmentation of hair, Cataract, Macular atrophy, Albinism, Congestive heart failure, Dilated ...	OMIM:242840
Bohring-Opitz Syndrome	Retinal atrophy, Synophrys, Optic atrophy, Bilateral wrist flexion contracture, Congenital contra...	ORPHA:97297
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Ciliary Dyskinesia, Primary, 14	Male infertility, Reduced sperm motility, Chronic sinusitis, Immotile sperm	OMIM:613807
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Truncal titubation	OMIM:618056
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Lead Poisoning	Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol...	ORPHA:330015
Shprintzen Omphalocele Syndrome	Omphalocele, Epicanthus, Lumbar hyperlordosis, Kyphosis, Thin vermilion border, Scoliosis, Decrea...	OMIM:182210
46,Xy Partial Gonadal Dysgenesis	Vanishing testis, Decreased serum estradiol, Male infertility, Streak ovary, Elevated circulating...	ORPHA:251510
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia	ORPHA:66518
Langer Mesomelic Dysplasia	Lumbar hyperlordosis, Micrognathia	OMIM:249700
Histiocytoid Cardiomyopathy	Failure to thrive, Hypoglycemia, Cleft palate	ORPHA:137675
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Short sperm flagella, Coiled sperm flagella, Recurrent sinusitis	OMIM:620197
Pelvis-Shoulder Dysplasia	Back pain, Lumbar hyperlordosis, Spina bifida occulta, Short stature	OMIM:169550
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Branchiooculofacial Syndrome	Short neck, Micrognathia, Premature graying of hair, Sparse hair, Ectopic thymus tissue, Hyperlor...	OMIM:113620
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hyperlordosis, Flexion contracture, Osteoporosis, Macroglossia, Scoliosis, Difficulty in tongue m...	ORPHA:365
Ciliary Dyskinesia, Primary, 18	Male infertility, Recurrent sinusitis, Immotile sperm	OMIM:614874
Congenital Muscular Dystrophy With Cerebellar Involvement	Macroglossia, Lumbar hyperlordosis	ORPHA:370959
Chronic Thromboembolic Pulmonary Hypertension	Myeloproliferative disorder, Inflammation of the large intestine, Osteomyelitis, Obesity	ORPHA:70591
Cap Myopathy	Thoracic scoliosis, Lumbar hyperlordosis, High palate	ORPHA:171881
Sotos Syndrome	No permanent dentition, Flexion contracture, Hypothyroidism, Abnormal vertebral morphology, Joint...	ORPHA:821
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Sparse scalp hair, Failure to thrive, Cataract, Retinal dystrophy, Fair hair, Macular degeneratio...	OMIM:266920
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Anemia, Hypokalemia, Hyperaldosteronism, Hypophosphatemia, Hyperchol...	ORPHA:534
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Say-Barber-Miller Syndrome	Abnormality of the hairline, Highly arched eyebrow, Sparse eyebrow, Optic atrophy, Elbow flexion ...	ORPHA:3132
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Mowat-Wilson Syndrome	Asplenia, Cleft hard palate, Gastrointestinal dysmotility, Flexion contracture, Vomiting, Bifid u...	ORPHA:2152
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin	ORPHA:423479
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Limited elbow movement, Spinal rigidity, Hyperlordosis, Limited knee flexion/extension, Dysphagia...	ORPHA:268
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Joint laxity, Lumbar hyperlordosis, Obesity, Disproportionate short-limb short stature, Scoliosis...	OMIM:250420
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Omphalocele, Intestinal malrotation, Asplenia, Esophageal atresia, Patent ductus arteriosus, Pulm...	OMIM:265380
Glutaryl-Coa Dehydrogenase Deficiency	Fasting hypoglycemia	ORPHA:25
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Decreased response to growth hormone stimulation test, Chorior...	ORPHA:1435
Hereditary Hyperekplexia	Joint stiffness, Hiatus hernia, Gastroesophageal reflux, Hernia, Esophagitis, Umbilical hernia	ORPHA:3197
Right Atrial Isomerism	Asplenia, Inguinal hernia, Abdominal situs ambiguus, Polysplenia	OMIM:208530
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Heterotaxy, Visceral, 2, Autosomal	Asplenia, Abdominal situs inversus, Intestinal malrotation, Polysplenia	OMIM:605376
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Postnatal growth retardation, Gastroesophageal reflux, Esophagitis, Feeding difficulties	ORPHA:79350
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Epicanthus, Sinusitis, Kyphoscoliosis, Hyperlordosis, Micrognathia, Bone cyst, Abnormality of the...	ORPHA:363700
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Lumbar hyperlordosis, Scoliosis	OMIM:601152
Pitt-Hopkins Syndrome	Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Short neck, Postnatal growth retardat...	ORPHA:2896
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Bardet-Biedl Syndrome 20	Hypercholesterolemia	OMIM:619471
Tay-Sachs Disease	Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Hepatosplenomegaly, Dy...	ORPHA:845
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Pulmonary insufficiency, Retinal degeneration	OMIM:208500
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	High, narrow palate, Hypoketotic hypoglycemia	ORPHA:228308
45,X/46,Xy Mixed Gonadal Dysgenesis	Male infertility, Epicanthus, Streak ovary, Unilateral cryptorchidism, Micrognathia, Bilateral cr...	ORPHA:1772
Carnitine Palmitoyltransferase Ii Deficiency	Hypoketotic hypoglycemia	ORPHA:157
Pmm2-Cdg	Mandibular prognathia, Osteopenia, Multiple joint contractures, Elevated circulating thyroid-stim...	ORPHA:79318
Marburg Hemorrhagic Fever	Back pain, Hypoglycemia, Orchitis, Arthritis, Conjunctival hyperemia	ORPHA:99826
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa...	ORPHA:71505
Gastroesophageal Reflux	Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis	OMIM:109350
Fructose Intolerance, Hereditary	Failure to thrive, Hypoglycemia, Glycosuria	OMIM:229600
Osteopetrosis With Renal Tubular Acidosis	Retinal atrophy, Abnormal retinal morphology, Optic atrophy, Secondary hyperparathyroidism, Pulmo...	ORPHA:2785
Heterotaxy, Visceral, 5, Autosomal	Absence of the sacrum, Intestinal malrotation, Asplenia, Patent ductus arteriosus, Abdominal situ...	OMIM:270100
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Feeding difficulties in infancy, Gastrointestinal dysmotility, Hemivertebrae, Gastroesophageal re...	ORPHA:500150
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Steinert Myotonic Dystrophy	Alopecia, Diabetes mellitus, Hypergonadotropic hypogonadism, Tented upper lip vermilion, Decrease...	ORPHA:273
Beckwith-Wiedemann Syndrome	Omphalocele, Adrenocortical cytomegaly, Cryptorchidism, Adrenocortical carcinoma, Macroglossia, N...	OMIM:130650
Iniencephaly	Omphalocele, Congenital diaphragmatic hernia, Hyperlordosis, Absent vertebra, Orofacial cleft, Na...	ORPHA:63259
Sandhoff Disease	Exaggerated startle response, Hepatosplenomegaly	OMIM:268800
Split Cord Malformation	Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Bowe...	ORPHA:573278
Acrocapitofemoral Dysplasia	Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Short nail, Disproportionate short s...	OMIM:607778
Ciliary Dyskinesia, Primary, 19	Male infertility, Recurrent sinusitis	OMIM:614935
Hereditary Fructose Intolerance	Reactive hypoglycemia	ORPHA:469
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Cystinosis, Nephropathic	Male infertility, Hypopigmentation of hair, Diabetes mellitus, Failure to thrive in infancy, Rick...	OMIM:219800
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis	ORPHA:2239
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response, Hypoasparaginemia	OMIM:615574
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Exaggerated startle response, Dystonia	ORPHA:79255
Alagille Syndrome 1	Hypercholesterolemia, Hypertriglyceridemia	OMIM:118450
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Elevated circulating creatine kinase concentration	OMIM:253800
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis, Severe short stature	OMIM:184253
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Neonatal hypoglycemia	OMIM:261740
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Macular degeneration	ORPHA:247234
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma...	ORPHA:85450
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
3-Methylglutaconic Aciduria, Type Viii	Failure to thrive, Neonatal hypoglycemia	OMIM:617248
Neurodegeneration With Brain Iron Accumulation 1	Pigmentary retinopathy, Optic atrophy, Retinal degeneration	OMIM:234200
Meckel Syndrome	Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Asplenia, Congenital hep...	ORPHA:564
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Dystonia	ORPHA:521426
Holoprosencephaly 1	Hypoglycemia, Diabetes insipidus, Adrenal hypoplasia, Median cleft lip and palate	OMIM:236100
Tetraamelia Syndrome 1	Congenital diaphragmatic hernia, Asplenia, Cleft palate, Adrenal gland agenesis, Anal atresia	OMIM:273395
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Alström Syndrome	Thoracic scoliosis, Abnormality of dental color, Decreased response to growth hormone stimulation...	ORPHA:64
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Inguinal hernia, Genital hernia, Cystocele, Atypical scarring of skin, Keratoconjunc...	ORPHA:285
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility, Chronic sinusitis	OMIM:619607
Lipodystrophy, Familial Partial, Type 7	Hypercholesterolemia, Hypertriglyceridemia	OMIM:606721
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response	OMIM:617527
Acute Liver Failure	Hypoglycemia, Adrenal insufficiency	ORPHA:90062
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus, Inguinal hernia, Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, C...	OMIM:130050
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Elevat...	OMIM:619534
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad eyebrow, Right unicoronal synostosis, Aganglionic megacolon, Short stature, Bowel incontine...	ORPHA:261537
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Osteomyelitis, Abnormality of the dentition, Nasolacrimal sac gr...	ORPHA:2968
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia, Cleft hard palate, Flexion contracture, Bifid uvula, Short stature, Highly arched eyebr...	ORPHA:261552
Vascular Ehlers-Danlos Syndrome	Keratoconus, Inguinal hernia, Alopecia, Telangiectasia of the skin, Transient ischemic attack, Ab...	ORPHA:286
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia	OMIM:277180
Microphthalmia, Syndromic 1	Lumbar hyperlordosis, Dental crowding, Kyphoscoliosis, Cleft upper lip, Cryptorchidism, High, nar...	OMIM:309800
Spondyloepimetaphyseal Dysplasia, X-Linked	Joint laxity, Lumbar hyperlordosis, Hypoplasia of the maxilla, Hypoplasia of the odontoid process...	OMIM:300106
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia	ORPHA:391665
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anemia, Exaggerated startle response, Decreased serum iron, Dystonia	ORPHA:438213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Cystic Fibrosis	Male infertility, Failure to thrive, Chronic sinusitis	OMIM:219700
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522

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 Sirt6

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 Sirt6.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Sirt6 is required for spermatogenesis in mice.	Aging (September 2020)	Sirt6^{tm1a(EUCOMM)Wtsi}	PMC7521524

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
Sirt6^{tm1c(EUCOMM)Wtsi}	Wild type floxed exon (post-Flp)	Mice
Sirt6^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Sirt6^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Sirt6^{tm1a(EUCOMM)Wtsi}	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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