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Gene: Zdhhc13 MGI:1919227

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

zinc finger, DHHC domain containing 13

Synonyms:

kojak, 2410004E01Rik, skc4, Hip14l

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.

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 Zdhhc13 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 Zdhhc13 (0 diseases)
Human diseases predicted to be associated with Zdhhc13 (2239 diseases)

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

The table below shows human diseases predicted to be associated to Zdhhc13 by phenotypic similarity.

Disease	Matching phenotypes	Source
Pili Gemini	Abnormal hairshaft morphology, Hair shafts flattened at irregular intervals and twisted through 1...	ORPHA:79492
Ringed Hair	Abnormal hair morphology	OMIM:180600
Hairy Nose Tip	Abnormal hair morphology	OMIM:139630
Discoid Fibromas, Familial Multiple	Abnormal hair morphology	OMIM:190340
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis	ORPHA:505
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Hypotrichosis 15	Sparse scalp hair	OMIM:620177
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Hypotrichosis 2	Sparse scalp hair	OMIM:146520
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera...	ORPHA:2722
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa...	OMIM:617294
Hypertrichosis Lanuginosa Congenita	Congenital, generalized hypertrichosis, Double eyebrow	OMIM:145700
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Plantar hyperkeratosis, Nail dystrophy	OMIM:616487
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph...	OMIM:158000
Hypotrichosis 10	Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:614238
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
L-Ferritin Deficiency	Alopecia	OMIM:615604
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Hypertrichosis, Congenital Generalized	Congenital, generalized hypertrichosis, Hirsutism	OMIM:307150
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Alopecia of scalp, Trichodysplasia	ORPHA:79129
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Joint stiffness, Abnor...	ORPHA:1979
Basal Ganglia Calcification, Idiopathic, 5	Cerebral calcification, Cerebellar calcifications, Basal ganglia calcification, Chorea, Athetosis...	OMIM:615483
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concen...	OMIM:614727
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Gray matter heterotopia, Cer...	OMIM:604213
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri...	OMIM:117850
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Nail pits, Amyloidosis, Patchy...	ORPHA:79153
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Short attention span, Mild malformation of cortical development, Dysplastic corpus callosum, Fine...	ORPHA:500166
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Alopecia, Skeletal muscle atrophy, Sparse eyelashes, Elevated circulating creatine ...	OMIM:615704
Moynahan Syndrome	Sparse hair, Hyperkeratosis, Alopecia	ORPHA:2574
Edinburgh Malformation Syndrome	Jaundice, Failure to thrive, Neonatal hyperbilirubinemia, Frontal hirsutism	OMIM:129850
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Short s...	OMIM:620010
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Ataxia, Reduced cerebral white matter volume, Inability to walk, Synophrys, Unsteady gait, Dyspla...	OMIM:620317
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Ataxia, Hypoesthesia, Chorea, Basal ganglia calcification, Dysmetria, Bradykinesia, Thalamic calc...	OMIM:618317
Flynn-Aird Syndrome	Alopecia, Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Hyperker...	OMIM:136300
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Failure to thrive, Fair hair, Cardiomegaly, Conjugated hyperbilirubinem...	OMIM:269920
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair	OMIM:614931
Tubulinopathy-Associated Dysgyria	Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Hypoplasia of the pons, Attention deficit hyp...	ORPHA:467166
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Cerebellar calcifications, Basal ganglia calcification, Limb ataxia, Bradykinesia, Thalamic calci...	OMIM:618824
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju...	OMIM:619868
Erythrokeratodermia Variabilis Et Progressiva 5	Joint stiffness, Abnormal hair morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Onychogry...	OMIM:617756
Coasy Protein-Associated Neurodegeneration	Abnormal globus pallidus morphology, Abnormal caudate nucleus morphology, Difficulty walking, Cog...	ORPHA:397725
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera...	OMIM:300918
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Ataxia, Microcephaly, Hypoplasia of the pons, Inability to walk, Dysplastic c...	OMIM:618276
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Pallor, Myeloid leukemia, Flushing, Hepatomegaly, Neutrophilia, Leukocytosis, ...	ORPHA:98849
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Nail dysplasia	OMIM:212360
Isolated Glycerol Kinase Deficiency	Short stature, Elevated circulating creatine kinase concentration, Hyperlordosis, Osteoporosis, M...	ORPHA:408
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis	ORPHA:1008
Aredyld Syndrome	Hepatomegaly, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology, Cachexia...	ORPHA:1133
Fibrodysplasia Ossificans Progressiva	Alopecia, Spinal rigidity, Limitation of joint mobility, Ectopic ossification in ligament tissue,...	ORPHA:337
Parana Hard Skin Syndrome	Short stature, Thickened skin, Growth delay, Hyperkeratosis, Generalized hirsutism, Restricted ch...	ORPHA:2812
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Small for gestational age, Growth delay, Long eyelashes, Sparse hair, Micropenis, Neona...	ORPHA:3363
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Short stature, Thin nail, Absent eyelashes, Osteoporosis, Hyperkeratosis, Nail dy...	OMIM:618625
Kerion Celsi	Alopecia	ORPHA:499
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Cachexia, Abnormal thalamic MRI signal intensity, Abnormal cerebral w...	ORPHA:363717
Anonychia With Flexural Pigmentation	Macular telangiectasia, Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular h...	ORPHA:69125
Olmsted Syndrome 2	Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar...	OMIM:619208
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Severe short statur...	OMIM:215100
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Severe short stature, Prematurely aged appearance, Lipoatrophy, Kyphosis,...	ORPHA:2617
Winchester Syndrome	Kyphosis, Hirsutism, Osteolysis involving tarsal bones, Carpal osteolysis, Generalized osteoporosis	OMIM:277950
Cog7-Cdg	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea...	ORPHA:79333
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Caudate atrophy, T2 hypointense thalamus, Basal ganglia calcification, Leukoencephalopathy, Demen...	OMIM:618193
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Short stature, Albinism, Kyphosis, Osteoporosis, Platyspondyly, Pallor	ORPHA:2786
Flynn-Aird Syndrome	Skeletal muscle atrophy, Alopecia, Cachexia, Joint stiffness, Kyphosis, Bone cyst, Skin ulcer, Sc...	ORPHA:2047
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Osteopenia And Sparse Hair	Sparse hair, Osteopenia, Joint laxity	OMIM:259690
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Short neck, Ectodermal dysplasia, Amyloidosis, Palmoplantar keratoderma, Cutaneous...	OMIM:615225
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Plantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Hyperker...	ORPHA:79397
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Microcephaly 5, Primary, Autosomal Recessive	Highly arched eyebrow, Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral...	OMIM:608716
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Osteopenia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Kyphosco...	ORPHA:300179
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Osteopenia, Proteinuria, Short st...	ORPHA:369
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Hypertriglyceridemia, Lipodystrophy, Ele...	OMIM:613327
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Cerebellar atrophy, Ataxia, Inability to walk, T2 hypointense thalamus, Unsteady gait, Cerebral a...	ORPHA:1947
Primary Sclerosing Cholangitis	Acute hepatic failure, Osteopenia, Abnormal eosinophil morphology, Spider hemangioma, Hypoalbumin...	ORPHA:171
Hypercholanemia, Familial, 2	Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged n...	OMIM:619256
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint laxity, Dorsocervical fat pad, Short stature, Short neck, Low anterior hairline, Osteoporos...	OMIM:616033
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia	ORPHA:346
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Generalized hirsutism, Delayed puberty	ORPHA:2297
Transaldolase Deficiency	Thrombocytopenia, Hepatosplenomegaly, Telangiectasia, Abnormal circulating glutamine concentratio...	ORPHA:101028
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi...	ORPHA:129
Lissencephaly 3	Cerebellar vermis hypoplasia, Agyria, Periventricular laminar heterotopia, Ataxia, Microcephaly, ...	OMIM:611603
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El...	OMIM:615559
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Abscess, Hepatic cys...	ORPHA:400
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair, Onychogryposis of fingerna...	ORPHA:2251
Combined Oxidative Phosphorylation Deficiency 36	Elevated circulating aspartate aminotransferase concentration, Aciduria, Elevated circulating ala...	OMIM:617950
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic...	ORPHA:42
Cronkhite-Canada Syndrome	Hepatomegaly, Alopecia, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Splenomeg...	ORPHA:2930
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteoly...	ORPHA:100024
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Inguinal hernia, Brittle hair, Cutis marmorata, Homocystinuria, Kyphoscoliosis, Methioninuria, Li...	OMIM:236200
Lysinuric Protein Intolerance	Skeletal muscle atrophy, Leukopenia, Aminoaciduria, Sparse hair, Hepatomegaly, Short stature, Ost...	OMIM:222700
Craniofaciofrontodigital Syndrome	Osteopenia, Joint laxity, Prominent superficial veins, Short stature, Thick hair, Cardiomegaly, L...	ORPHA:363705
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa...	OMIM:129500
Classic Mycosis Fungoides	Hepatomegaly, Alopecia, Splenomegaly, Erythema, Skin ulcer, Dry skin, Lymphadenopathy, Hyperkerat...	ORPHA:2584
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Failure to thrive, Elevated circulating creatinine concentration, Inc...	OMIM:617872
Sialidosis Type 2	Hepatomegaly, Skeletal muscle atrophy, Inguinal hernia, Short stature, Splenomegaly, Kyphosis, Fl...	ORPHA:87876
Proteus Syndrome	Kyphoscoliosis, Splenomegaly, Facial hyperostosis, Spinal canal stenosis, Hyperkeratosis, Multipl...	OMIM:176920
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co...	OMIM:610031
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Elevated circulat...	OMIM:600175
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevat...	ORPHA:158057
Variant Abeta2M Amyloidosis	Amyloidosis of peripheral nerves, Multiple bony cystic lesions, Chronic kidney disease, Abnormal ...	ORPHA:314652
Oliver-Mcfarlane Syndrome	Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Long ...	OMIM:275400
Forsythe-Wakeling Syndrome	Short stature, Osteoporosis, Growth delay, Nephrotic syndrome, Decreased body weight, Thrombocyto...	OMIM:613606
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Palmoplantar keratoderma, Nail dystroph...	ORPHA:2890
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Abnormal fingernail morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Atrophi...	ORPHA:89838
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Inability to walk, Decreased thalamic volume, Abnormal basal ganglia morphology	OMIM:618646
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Cardiomegaly, Increased circulating ferrit...	OMIM:235200
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Acrogeria	Telangiectasia of the skin, Prematurely aged appearance, Lipoatrophy, Short stature, Skin ulcer, ...	ORPHA:2500
Alg8-Cdg	Hyponatremia, Elevated hepatic transaminase, Failure to thrive, Abnormality of subcutaneous fat t...	ORPHA:79325
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Cerebellar vermis hypoplasia, Ataxia, Partial agenesis of the corpus callosum, Low anterior hairl...	OMIM:616819
Porphyria Cutanea Tarda	Alopecia, Porphyrinuria, Onycholysis, Cirrhosis, Hepatocellular carcinoma, Facial hypertrichosis,...	OMIM:176100
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Glycogen Storage Disease Xii	Normocytic anemia, Elevated circulating creatine kinase concentration, Short neck, Hemoglobinuria...	OMIM:611881
Erythrokeratodermia Variabilis	Alopecia, Short stature, Abnormal hair morphology, Erythema, Patchy palmoplantar hyperkeratosis, ...	ORPHA:317
Extensor Tendons Of Finger Anomalies	Skeletal muscle atrophy, Camptodactyly of finger, Limitation of joint mobility, Osteoporosis, Mul...	ORPHA:3294
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Limitatio...	ORPHA:157973
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Per...	ORPHA:300573
Ruijs-Aalfs Syndrome	Thoracic kyphoscoliosis, Skeletal muscle atrophy, Lipodystrophy, Short stature, Hepatocellular ca...	OMIM:616200
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Microcephaly, Simplified gyral pattern, Decreased thalamic volume, Cerebellar hypoplasia, Hypopla...	OMIM:619072
Alpha-Heavy Chain Disease	Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Growth delay, Hypocalcemia, Ascites, Anemia	ORPHA:100025
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Palmop...	OMIM:614594
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, O...	ORPHA:79301
Werner Syndrome	Low back pain, Hypertriglyceridemia, Prematurely aged appearance, Elevated circulating aspartate ...	OMIM:277700
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Short stature, Onychauxis, Abnormal hair morphology, Fractures of the long bones, Ost...	ORPHA:319195
Rotor Syndrome	Bilirubinuria, Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Porphyrinuria, Hyp...	ORPHA:3111
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Alopecia, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Hype...	ORPHA:79395
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll...	OMIM:616099
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Skeletal muscle atrophy, Short stature, Elevated circulating creatine kinase concentration, Cache...	ORPHA:1933
Epidermolysis Bullosa, Junctional 5A, Intermediate	Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope...	OMIM:619816
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Follicular hyperkeratosis, Sparse hair, Pili torti	OMIM:607903
Progeroid Syndrome, Petty Type	Reduced subcutaneous adipose tissue, Brittle hair, Prematurely aged appearance, Redundant skin, L...	ORPHA:2963
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Abnormality of hair texture, Growth delay, Sparse or absent eyelashes, Joint hyperflexibility, Pi...	ORPHA:2891
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Kyphosis, Osteoporosis, Myopathy, Macrovesicular hepatic steatosis, Scoliosis, Fail...	OMIM:618234
Malaria	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyperbilirubinemia, Acut...	ORPHA:673
Menkes Disease	Joint laxity, Alopecia, Brittle hair, Decreased circulating ceruloplasmin concentration, Short st...	OMIM:309400
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Increased body weight...	ORPHA:890
Schwartz-Jampel Syndrome, Type 1	Skeletal muscle atrophy, Cervical kyphosis, Elevated circulating creatine kinase concentration, S...	OMIM:255800
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Short stature, Interphalangeal joint contracture of finger, Widow's peak, Knee flexion contractur...	OMIM:606242
Crigler-Najjar Syndrome Type 1	Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n...	ORPHA:79234
Cach Syndrome	Cerebellar atrophy, Progressive neurologic deterioration, Microcephaly, T2 hypointense thalamus, ...	ORPHA:135
Neuroferritinopathy	Caudate atrophy, Abnormal putamen morphology, T2 hypointense thalamus, Chorea, Subcortical dement...	ORPHA:157846
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Ridged nail, Acrokeratosis	OMIM:101900
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Focal polymicrogyria, Partial age...	OMIM:615771
Warburg Micro Syndrome 1	Short stature, Kyphoscoliosis, Osteoporosis, Facial hypertrichosis, Failure to thrive, Joint hype...	OMIM:600118
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Conjuga...	OMIM:211600
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Short stature, Flexion contracture, Growth delay, Scoliosis, Ichthyo...	ORPHA:2850
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hypoplasia of the pons, Unsteady gait, Fusion of the left...	OMIM:617542
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Pancytopenia, Aplastic anemia, Short stature, Osteoporosis, Palmoplantar hype...	OMIM:613989
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Hepatomegaly, Alopecia, Absent eyebrow, Short stature, Thickened sk...	OMIM:263700
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Geroderma Osteodysplasticum	Beaking of vertebral bodies, Osteopenia, Hyperextensibility of the finger joints, Severe short st...	OMIM:231070
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Generalized amyloid deposition, Splenomegaly, Cholestasis, Hematuria, ...	OMIM:105200
Cortisone Reductase Deficiency 1	Alopecia, Hirsutism	OMIM:604931
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Short sta...	OMIM:612526
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hypert...	OMIM:615381
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Bethlem Myopathy 2	Scapular winging, Elevated circulating creatine kinase concentration, Kyphosis, Distal joint laxi...	OMIM:616471
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Short stature, Acute rhabdomyolysis, Camptodactyly of finger, Kyphosis, Osteoporosis, Long eyelas...	ORPHA:48431
Ichthyosis Hystrix Of Curth-Macklin	Diffuse palmoplantar hyperkeratosis, Flexion contracture, Hyperkeratosis, Nail dystrophy, Ichthyosis	ORPHA:79503
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Skeletal muscle atrophy, Hypospadias, Severe short statu...	ORPHA:3242
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Short stature, Camptodactyly of finger, Kyphosis, Hyperkeratosis, Coarse hair, Join...	ORPHA:1883
Lissencephaly, X-Linked, 1	Ataxia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria	OMIM:300067
Majeed Syndrome	Hepatomegaly, Failure to thrive, Increased bone mineral density, Proteinuria, Osteomyelitis, Cach...	ORPHA:77297
Microcephaly 17, Primary, Autosomal Recessive	Low anterior hairline, Simplified gyral pattern, Microlissencephaly, Cerebellar hypoplasia, Hypop...	OMIM:617090
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Multicentric Reticulohistiocytosis	Arthritis, Cachexia, Histiocytosis	ORPHA:139436
Mcdonough Syndrome	Short stature, Cachexia, Kyphosis, Synophrys, Aplasia/Hypoplasia of the abdominal wall musculatur...	ORPHA:2471
Isolated Polycystic Liver Disease	Back pain, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Multiple renal cy...	ORPHA:2924
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Osteomyelitis, Short stature, Abnormality of the...	ORPHA:47
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Sparse hair, Reduced terminal:vellus ratio, Pili torti	OMIM:601553
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Osteoporosis, Darier's sign, Urticaria, Lymphadenopathy, Increased pr...	ORPHA:98848
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Joint laxity, Multiple joint contractures, Spinal rigidity, Overweight, Centrally nucleated skele...	ORPHA:486815
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Rhizomelic Chondrodysplasia Punctata	Alopecia, Short stature, Rhizomelia, Limitation of joint mobility, Spina bifida occulta, Growth d...	ORPHA:177
Cog5-Cdg	Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Short stature, Urinary incontine...	ORPHA:263487
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Small for gestational age, Sparse facial hair, Progeroid facial appearance, Sparse ax...	OMIM:608154
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Graft Versus Host Disease	Elevated hepatic transaminase, Skeletal muscle atrophy, Myositis, Dupuytren contracture, Fasciiti...	ORPHA:39812
Acquired Partial Lipodystrophy	Proteinuria, Lipoatrophy, Progeroid facial appearance, Myopathy, Lymphocytosis, Microscopic hemat...	ORPHA:79087
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Stxbp1-Related Encephalopathy	Inability to walk, Dysplastic corpus callosum, Cerebral white matter atrophy, Ataxia	ORPHA:599373
Keratoderma Hereditarium Mutilans	Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Abnormal toenail morphology, Abn...	ORPHA:494
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Cachexi...	ORPHA:824
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Spastic gait, Hypoplasia of the corpus callosum	OMIM:613162
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Striae distensae, Poor wound healing, Kyphosis, Osteoporosis, Nephrolith...	OMIM:219090
Epidermolysis Bullosa, Junctional 1A, Intermediate	Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails	OMIM:226650
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail	ORPHA:1882
Woolly Hair, Autosomal Dominant	Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai...	OMIM:194300
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O...	ORPHA:98850
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ...	OMIM:607765
Niemann-Pick Disease, Type A	Hepatomegaly, Failure to thrive, Skeletal muscle atrophy, Short stature, Elevated circulating asp...	OMIM:257200
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Thickened skin, Flexion contracture, Osteoporosis, ...	OMIM:228600
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Urethral stricture, Cutis marmorata, Failure to thrive in infancy, Corneal scarring, Hypohidrosis...	OMIM:301220
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Reduced bone mineral density, Neutropenia, Sparse hair, Abnormality ...	ORPHA:2909
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	OMIM:249100
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Iron deficiency anemia, Tubulointerstitial nephritis,...	ORPHA:37042
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys...	ORPHA:2325
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia, Joint stiffness	ORPHA:1216
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Increase...	OMIM:618892
Mulibrey Nanism	Hepatomegaly, Short stature, Cachexia, Intrauterine growth retardation	ORPHA:2576
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Short attention span, Cerebellar vermis hypoplasia, Inability to walk, Partial ag...	ORPHA:300570
Ullrich Congenital Muscular Dystrophy 1	Reduced muscle collagen VI, Distal joint laxity, Flexion contracture, Hyperextensibility at wrist...	OMIM:254090
Wolcott-Rallison Syndrome	Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insuffici...	ORPHA:1667
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:79235
Propionic Acidemia	Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Short stature, Thrombocyto...	OMIM:606054
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Microcytic anemia, Abnormal...	ORPHA:232
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly, Hyperhidrosis, Ectodermal dysplasia, Palmoplantar keratoderma, Follicular hyperkera...	OMIM:613576
Spinocerebellar Ataxia With Epilepsy	Cerebral infarct, Progressive neurologic deterioration, Dysmetria, Gait ataxia, Progressive cereb...	ORPHA:254881
Dyskeratosis Congenita	Abnormality of neutrophils, White hair, Hyperhidrosis, Premature graying of hair, Skin vesicle, S...	ORPHA:1775
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Alopecia, Decreased circulating ceruloplasmin concentration, Decre...	OMIM:242150
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperb...	OMIM:613404
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Short stature, Osteomalacia, Recurrent fractures, Bone cyst, Nephrolithiasis, Abnormal ...	ORPHA:93160
Werner Syndrome	Sparse scalp hair, Skeletal muscle atrophy, Increased bone mineral density, Prematurely aged appe...	ORPHA:902
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Ectodermal dysplasia, Palmoplantar k...	OMIM:224750
Glutathione Peroxidase Deficiency	Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia	OMIM:614164
Amyloidosis, Finnish Type	Renal insufficiency, Generalized amyloid deposition, Abnormal abdomen morphology, Cutis laxa, Nep...	OMIM:105120
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Parakeratosis, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse ...	OMIM:607626
Osteogenesis Imperfecta, Type Xiii	Skeletal muscle atrophy, Increased bone mineral density, Short stature, Recurrent fractures, Kyph...	OMIM:614856
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Diffuse cerebral atrophy, Failure to thrive, Secondary microcephaly, Decreased thalamic volume	OMIM:613668
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality	OMIM:237500
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Microcephaly, Absent eyelashes, Sparse eyebrow, Decreased body weight, ...	ORPHA:2985
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Absent facial hair, Abnormality of...	ORPHA:90368
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Impaired vibration sensation in the lower lim...	OMIM:610245
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Small for gestational age, Short stature, Postnatal growth retardation, Low anterior hairline, Os...	ORPHA:73272
Fanconi-Bickel Syndrome	Hepatomegaly, Ketonuria, Hypouricemia, Elevated circulating aspartate aminotransferase concentrat...	OMIM:227810
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Postnatal growth r...	ORPHA:2169
Nicolaides-Baraitser Syndrome	Alopecia, Severe short stature, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Ex...	ORPHA:3051
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Short stature, Renal tubular dysfunction, Growth delay, Hyperbilir...	OMIM:614886
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Decreased muscle mass, Redundant neck skin, Inguinal hernia, Thick hair, Redundant skin, Lipodyst...	ORPHA:357074
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sho...	OMIM:300718
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Cardiofaciocutaneous Syndrome 3	Curly hair, Short stature, Short neck, Reduced bone mineral density, Hyperhidrosis, Hyperkeratosi...	OMIM:615279
Tetrasomy 12P	Short stature, Cachexia, Short neck, Sparse eyebrow, Hypohidrosis, Joint hyperflexibility, Sparse...	ORPHA:884
Axin2-Related Attenuated Familial Adenomatous Polyposis	Sparse hair, Ectodermal dysplasia, Abnormal odontoid tissue morphology	ORPHA:401911
Spastic Paraplegia 18B, Autosomal Recessive	Skeletal muscle atrophy, Kyphosis, Scoliosis, Joint contracture, Lower limb muscle weakness	OMIM:611225
Hypermethioninemia Due To Adenosine Kinase Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Elevated circulating...	OMIM:614300
Ataxia-Telangiectasia	Elevated hepatic transaminase, Skeletal muscle atrophy, Hypopigmentation of hair, Failure to thri...	ORPHA:100
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli...	OMIM:214900
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:242300
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Flexion contracture, Acanthosis nigricans, Calcinosis, Hepatomegaly, Alopecia, Lipody...	OMIM:248370
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Alopecia, Thoracic scoliosis, Prematurel...	ORPHA:2959
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating alpha-fetopr...	OMIM:251880
Epidermolytic Palmoplantar Keratoderma	Abnormal fingernail morphology, Interphalangeal joint contracture of finger, Hypergranulosis, Epi...	ORPHA:2199
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Exercise-i...	OMIM:232800
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Short stature, Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis...	OMIM:617404
Bathing Suit Ichthyosis	Alopecia, Parakeratosis, Multiple joint contractures, Thickened skin, Palmoplantar hyperkeratosis...	ORPHA:100976
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly,...	OMIM:619487
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increas...	OMIM:616860
Aa Amyloidosis	Hepatomegaly, Proteinuria, Chronic kidney disease, Cholestasis, Nephrotic syndrome, Amyloidosis, ...	ORPHA:85445
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Ataxia, Gait disturbance, Fine hair	ORPHA:1174
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb...	OMIM:208085
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Osteomyelitis, Thrombocytopenia, Splenomegaly, Hepat...	ORPHA:781
Omenn Syndrome	Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, T...	OMIM:603554
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt...	OMIM:613845
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Portal hype...	ORPHA:59303
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased sarcoplasm...	ORPHA:264580
Poikiloderma With Neutropenia	Joint laxity, Plantar hyperkeratosis, Short stature, Elevated circulating creatine kinase concent...	OMIM:604173
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Back pain, Polycystic liver disease, Renal cyst, Ascites, Increased total bilirubin	OMIM:174050
Dyskeratosis Congenita, Autosomal Dominant 3	Urethral stricture, Pancytopenia, Alopecia, Aplastic anemia, Short stature, Urethral stenosis, Os...	OMIM:613990
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hepatocellular carci...	ORPHA:79240
Aquagenic Palmoplantar Keratoderma	Orthokeratotic hyperkeratosis, Excessive skin wrinkling on dorsum of hands and fingers, Palmoplan...	ORPHA:498359
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Osteopenia, Hip contracture, Failure to thrive in infancy, Facial hypotonia, Cachexia, Short neck...	OMIM:616801
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac...	OMIM:277900
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Decreased muscle mass, Foot dorsiflexor weakness, Cachexia, Ragged...	ORPHA:298
Omenn Syndrome	Hepatomegaly, Alopecia, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Thickened sk...	ORPHA:39041
Ichthyosis, Congenital, Autosomal Recessive 13	Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis	OMIM:617574
Cantu Syndrome	Ovoid vertebral bodies, Curly eyelashes, Cardiomegaly, Short neck, Large for gestational age, Cub...	OMIM:239850
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia, Jaundice	OMIM:237450
Christianson Syndrome	Decreased muscle mass, Cachexia, Joint hyperflexibility, Arthrogryposis multiplex congenita, Thic...	ORPHA:85278
Hawkinsinuria	4-hydroxyphenylacetic aciduria, Abnormal circulating tyrosine concentration, 4-Hydroxyphenylpyruv...	ORPHA:2118
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Thoracic kyphoscoliosis, Alopecia, Severe short stature,...	OMIM:203550
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Inguinal hernia, Short stature, Camptodactyly of finger, Abnormal hair patte...	ORPHA:85293
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia, Osteoporosis, Gout	OMIM:610947
Oculocerebrocutaneous Syndrome	Alopecia, Gray matter heterotopia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum...	OMIM:164180
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Hyperbilirubinemia	OMIM:618660
Ramon Syndrome	Telangiectasia of the skin, Abnormal dental enamel morphology, Osteolysis, Hyperkeratosis, Failur...	ORPHA:3019
Congenital Myopathy 22A, Classic	Hip contracture, Thoracic scoliosis, Scapular winging, Spinal rigidity, Centrally nucleated skele...	OMIM:620351
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619232
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Osteopenia, Small for gestational age, Short stature, Progeroid facial appearance, Generalized li...	ORPHA:50811
Jaundice, Familial Obstructive, Of Infancy	Jaundice, Neonatal hyperbilirubinemia	OMIM:308600
Crigler-Najjar Syndrome, Type Ii	Jaundice, Unconjugated hyperbilirubinemia	OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia, Jaundice	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Jaundice, Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Bethlem Myopathy	Multiple joint contractures, Reduced muscle collagen VI, Elevated circulating creatine kinase con...	ORPHA:610
Congenital Erythropoietic Porphyria	Osteopenia, Anisocytosis, Abnormal circulating porphyrin concentration, Scarring alopecia of scal...	ORPHA:79277
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulati...	OMIM:612852
Sézary Syndrome	Hepatomegaly, Alopecia, Skeletal muscle atrophy, Splenomegaly, Dry skin, Lymphadenopathy, Palmopl...	ORPHA:3162
Cutis Laxa, Autosomal Dominant 3	Os odontoideum, Osteopenia, Joint laxity, Unilateral renal agenesis, Postnatal growth retardation...	OMIM:616603
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Neurogenic bladder, Skeletal muscle atrophy, Short stature, Elevated circulating as...	OMIM:608779
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Cerebral atrophy, Abnormal cerebral white matter morphology, Dementia, Focal ...	ORPHA:79264
Trichohepatoenteric Syndrome 2	Hepatomegaly, Brittle hair, Small for gestational age, Decreased serum iron, Chronic hepatitis, U...	OMIM:614602
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Redundant skin, Short neck, Osteoarthritis, Generalized joint lax...	OMIM:618000
Cerebrooculofacioskeletal Syndrome 1	Small for gestational age, Kyphoscoliosis, Flexion contracture, Elbow flexion contracture, Osteop...	OMIM:214150
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa...	ORPHA:2457
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agyria, Microcephaly, Hypoplastic anterio...	ORPHA:171680
Crigler-Najjar Syndrome, Type I	Jaundice, Unconjugated hyperbilirubinemia	OMIM:218800
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Alopecia, Dorsocervical fat pad, Osteoporosis, Increased body weight, Bruising suscep...	OMIM:615830
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Patchy alopecia, Scarring, Thickened skin	OMIM:247100
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Olivopontocerebellar hypoplasia, ...	ORPHA:370959
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Renal insufficiency, Failure to thrive, Prematurely aged appearanc...	OMIM:610965
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Scapular winging, Elevated circulating creatine kinase concentration, Spinal mus...	OMIM:615290
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Plethora, Increased urinary cortisol level, Alopecia, Striae distensae, Dorsocervical fat pad, Hy...	ORPHA:189427
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, H...	ORPHA:172
Morgagni-Stewart-Morel Syndrome	Osteoarthritis, Osteoporosis, Obesity, Hyperostosis frontalis interna, Hyperuricemia, Hypercholes...	ORPHA:77296
Paternal Uniparental Disomy Of Chromosome 1	Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Recurrent fract...	ORPHA:251004
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Short stature, Small for gestational age, Hirsutism	ORPHA:85288
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar...	OMIM:608612
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Skeletal muscle atrophy, Failure to thrive, Myositis, Cutis marmor...	OMIM:615934
Anauxetic Dysplasia 2	Short stature, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Short neck, Hyperlordosis, P...	OMIM:617396
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Hypocalcemia, Hepatomegaly, Increased bone mineral density, Short s...	OMIM:259720
Porokeratosis Of Mibelli	Hyperkeratosis, Cutaneous photosensitivity, Porokeratosis	ORPHA:735
Pachydermoperiostosis	Abnormal hair quantity, Hepatomegaly, Osteomyelitis, Abnormal fingernail morphology, Abnormal hai...	ORPHA:2796
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypertriglyceridemia, Short stature, Micro...	ORPHA:98907
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Failure to thrive, Proteinuria,...	ORPHA:90321
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic...	OMIM:235555
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Facial erythema, Neutropenia, Sparse hair, Calcinosis, Short stature...	ORPHA:221008
Congenital Generalized Lipodystrophy	Hepatomegaly, Prominent superficial veins, Hypertriglyceridemia, Lipodystrophy, Adipose tissue lo...	ORPHA:528
Macs Syndrome	Joint laxity, Alopecia, Short stature, Redundant skin, Sparse eyebrow, Urethral stenosis, Osteopo...	OMIM:613075
Zimmermann-Laband Syndrome 3	Thick hair, Kyphosis, Synophrys, Flexion contracture, Low anterior hairline, Absent toenail, Long...	OMIM:618658
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin...	ORPHA:79230
Cockayne Syndrome	Skeletal muscle atrophy, Dry hair, Urinary incontinence, Congenital contracture, Hepatomegaly, Re...	ORPHA:191
Cutis Laxa, Autosomal Recessive, Type Iiia	Prominent superficial blood vessels, Inguinal hernia, Short stature, Joint hypermobility, Low pla...	OMIM:219150
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Hypertriglyceridemia, Lipoatrophy, Absent eyelashes, Abnormal intrahepatic bile d...	ORPHA:363618
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Sparse scalp hair, Skeletal muscle atrophy, Sparse eyelashes, Lipodystrophy, Progeroi...	ORPHA:75496
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Flexion contracture, Rib osteolysis, Alopecia, Short stature, Sparse eyeb...	OMIM:614008
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Growth delay, Atrophic scars, Palmoplantar keratoderma, Nail dystroph...	ORPHA:79402
Hall-Riggs Syndrome	Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intrauterine gro...	OMIM:234250
Linear Verrucous Nevus Syndrome	Sparse scalp hair, Reduced bone mineral density, Hyperkeratosis, Scoliosis, Hypophosphatemia	ORPHA:2611
Prolidase Deficiency	Hepatomegaly, Abnormal fingernail morphology, Splenomegaly, Erythema, Low anterior hairline, Skin...	ORPHA:742
Cranioectodermal Dysplasia	Abnormal fingernail morphology, Abnormal dental enamel morphology, Craniosynostosis, Rhizomelia, ...	ORPHA:1515
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo...	ORPHA:1808
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Hypergranulosis, Palmoplantar hyperker...	OMIM:615598
Trichothiodystrophy 9, Nonphotosensitive	Ataxia, Sparse eyebrow, Nail dystrophy, Sparse hair, Tiger tail banding	OMIM:619692
H Syndrome	Abnormal eyebrow morphology, Alopecia, Hypertriglyceridemia, Lipodystrophy, Recurrent fractures, ...	ORPHA:168569
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Pancytopenia, In...	OMIM:603553
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:613812
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont...	ORPHA:536516
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Tubulointerstitial nephritis, Re...	ORPHA:470
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Palmoplantar keratoderma, Alopecia totalis	ORPHA:1366
Combined Oxidative Phosphorylation Defect Type 7	Ataxia, Inability to walk, Abnormal thalamic MRI signal intensity, Impaired tandem gait, Distal s...	ORPHA:254930
Rothmund-Thomson Syndrome Type 2	Osteopenia, Aplastic anemia, Facial erythema, Neutropenia, Sparse hair, Calcinosis, Short stature...	ORPHA:221016
Intellectual Developmental Disorder, Autosomal Recessive 5	Small for gestational age, Elevated circulating creatine kinase concentration, Short stature, Pos...	OMIM:611091
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Alopecia, Limb joint contracture, S...	OMIM:612079
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Short neck, Low ante...	ORPHA:800
Syndromic X-Linked Intellectual Disability 7	Hypoplasia of penis, Short stature, Obesity, Micropenis, Sparse body hair	ORPHA:85274
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Woolly hair, Palmoplantar keratoderma	OMIM:610476
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Kyphoscoliosis, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly, ...	OMIM:252930
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegal...	OMIM:601847
Atypical Werner Syndrome	Sclerosis of hand bone, Skeletal muscle atrophy, Abnormal hair whorl, Reduced bone mineral densit...	ORPHA:79474
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Uncombable Hair Syndrome 2	Uncombable hair, Pili canaliculi	OMIM:617251
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive, Elevated circulatin...	OMIM:614576
Dermatoleukodystrophy	Thickened skin, Premature skin wrinkling, Progeroid facial appearance	OMIM:221790
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Palmoplantar keratoderma,...	OMIM:612843
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cachexia, Hypokalemia, Hypocalcemia, Nail dysplasia, Hypomagnesemia, Nail dystrophy, An...	OMIM:175500
Trichothiodystrophy 5, Nonphotosensitive	Broad-based gait, Brittle hair, Slow-growing hair, Microcephaly, Sparse eyebrow, Gait ataxia, Pro...	OMIM:300953
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Decreased muscle mass, Portal hypertension, Hepatocellular carc...	ORPHA:465508
Cutis Laxa, Autosomal Recessive, Type Iia	Inguinal hernia, Brittle hair, Lipodystrophy, Redundant skin, Abnormality of hair texture, Cutis ...	OMIM:219200
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Inguinal hernia, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly,...	OMIM:252900
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d...	ORPHA:98855
Sjögren-Larsson Syndrome	Short stature, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Erythema, Urticaria,...	ORPHA:816
Citrullinemia, Type Ii, Neonatal-Onset	Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st...	OMIM:605814
Analbuminemia	Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles...	OMIM:616000
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615269
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Bachmann-Bupp Syndrome	Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Large for gestational age, Small nail, Hyper...	OMIM:619075
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Mycetoma	Back pain, Prominent superficial veins, Osteomyelitis, Abdominal mass, Pelvic mass, Abnormality o...	ORPHA:2583
19Q13.11 Microdeletion Syndrome	Failure to thrive, Hypospadias, Supernumerary nipple, Cachexia, Fine hair, Growth delay, Sparse o...	ORPHA:217346
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Synophrys, Low anterior hairline, Coarse hair, Hernia, Decreased skull os...	ORPHA:955
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Low anterior hairli...	OMIM:613153
Mucopolysaccharidosis-Plus Syndrome	Short neck, Synophrys, Flexion contracture, Low anterior hairline, Leukopenia, Coarse hair, Hypoa...	OMIM:617303
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis, Cutaneous photosensitivity	ORPHA:1336
Leukoencephalopathy With Dystonia And Motor Neuropathy	Impaired vibratory sensation, Focal T2 hyperintense thalamic lesion, Leukoencephalopathy	OMIM:613724
Nicolaides-Baraitser Syndrome	Dry hair, Low anterior hairline, Sparse hair, Sparse medial eyebrow, Absent eyebrow, Short statur...	OMIM:601358
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Failure to thrive, Psoriasiform lesion, Eosinophilia, Autoimmune thrombocytopenia, Decr...	ORPHA:169154
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Ataxia, Microcephaly, Cerebellar hypoplasia, Nail dystrophy, Sparse hair, Failure to th...	OMIM:616353
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Hypoplast...	OMIM:608836
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Mild postnatal growth...	OMIM:224120
Combined Oxidative Phosphorylation Deficiency 51	Focal T2 hyperintense thalamic lesion, Small for gestational age, Cerebral atrophy	OMIM:619057
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Calf muscle pseudohypertroph...	ORPHA:79086
Oculoskeletodental Syndrome	Abnormality of the frontal hairline, Dysplastic corpus callosum, Abnormal thalamus morphology, Fo...	ORPHA:557003
Avascular Necrosis Of Femoral Head, Primary, 1	Generalized osteoporosis	OMIM:608805
Caroli Disease	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hepatomegaly, Portal...	ORPHA:53035
Refractory Celiac Disease	Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Hypomagne...	ORPHA:398063
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Macrocytic anemia, Alopecia, Short stature, Postnatal growth retar...	OMIM:212750
Fucosidosis	Hepatomegaly, Failure to thrive, Decreased muscle mass, Lipoatrophy, Cardiomegaly, Kyphosis, Abno...	ORPHA:349
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern,...	OMIM:620001
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Severe short stature, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Mod...	ORPHA:1005
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Large for gestational age, Hypopla...	ORPHA:544488
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Short stature, Retinal telangiectasia, Postnatal growth retardation, Osteoporosis, Fi...	OMIM:612199
X-Linked Dominant Chondrodysplasia Punctata	Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Sparse eyelashes, Short stature, A...	ORPHA:35173
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Pallor, Hypoplasia of the musculatu...	ORPHA:231226
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis, Fragile skin	OMIM:615028
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thromb...	ORPHA:507
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Abnormal bone structure, Anemia	ORPHA:46532
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Cerebellar atrophy, Alopecia, Hypoplasia of the pons, Corpus callosum atrophy, Unsteady gait, Imp...	ORPHA:412057
Ectodermal Dysplasia, Trichoodontoonychial Type	Lipoatrophy, Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body h...	ORPHA:1818
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Short neck, Decreased cervical spi...	ORPHA:98863
Drug-Induced Lupus Erythematosus	Petechiae, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr...	ORPHA:231111
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Hyperkeratosis, Skin fragility with non-scarring blistering, Nail dystrop...	ORPHA:79399
Spondylo-Ocular Syndrome	Abnormal eyebrow morphology, Abnormal intervertebral disk morphology, Facial hypotonia, Short sta...	ORPHA:85194
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act...	OMIM:203800
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Premature graying of hair, Increased intraabdominal fat,...	ORPHA:280365
Stuve-Wiedemann Syndrome 1	Short stature, Ovoid vertebral bodies, Short neck, Elbow flexion contracture, Osteoporosis, Patho...	OMIM:601559
Jaberi-Elahi Syndrome	Broad-based gait, Brittle hair, Sparse eyelashes, Microcephaly, Sparse eyebrow, Inability to walk...	OMIM:617988
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Small for gestational age, Short stature, Flexion contracture, Absen...	OMIM:601675
Fg Syndrome 3	Fine hair, Chiari type I malformation, Frontal upsweep of hair, Sparse hair, Agenesis of corpus c...	OMIM:300406
Relapsing Fever	Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio...	ORPHA:91547
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Elevated circulating creatine kinase concentration, Spinal rigidity, Short neck, Kyp...	ORPHA:75840
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hepatomegaly, Anemia of inadequate produc...	ORPHA:231214
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Follicula...	OMIM:613102
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Joint laxity, Small for gestational age, Elevated circulating aspartate aminotransferase concentr...	OMIM:617093
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Growth delay, Ascites, Hepatic fail...	ORPHA:75233
Leigh Syndrome	Cerebellar atrophy, Abnormal basal ganglia MRI signal intensity, Alopecia, Neuronal loss in basal...	ORPHA:506
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Nail pi...	OMIM:127550
Lichen Planopilaris	Hyperkeratosis, Alopecia, Onycholysis, Abnormal fingernail morphology	ORPHA:525
Diencephalic Syndrome	Hyperhidrosis, Long penis, Cachexia, Decreased body weight	ORPHA:1672
Trichothiodystrophy 6, Nonphotosensitive	Brittle hair, Small for gestational age, Slow-growing hair, Short stature, Coronal craniosynostos...	OMIM:616943
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy	Anterior cervical hypertrichosis	OMIM:239840
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Synophrys, Unsteady gait, Dysmetria, Gait ataxia, Nonprogressive ce...	ORPHA:453521
Camurati-Engelmann Disease	Hepatomegaly, Skeletal muscle atrophy, Facial palsy, Cachexia, Hyperlordosis, Splenomegaly, Abnor...	ORPHA:1328
Cockayne Syndrome B	Dry hair, Ivory epiphyses of the phalanges of the hand, Sparse hair, Micropenis, Loss of facial a...	OMIM:133540
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Rhizomelia, Kyphoscoliosis, Short neck, Sparse eyebrow, Postnatal growth retard...	OMIM:302960
Acrokeratoderma, Hereditary Papulotranslucent	Fine hair	OMIM:101840
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Thick cerebral cortex, Cerebellar vermis hypoplasia, Ataxia, Thick hair...	ORPHA:357058
Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d...	ORPHA:98853
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypohidrosis, Ectode...	OMIM:129490
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Inguinal hernia, Small for gestational age, Short stature, Kyphosis, Reduced bone mineral density...	OMIM:618392
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Adams-Oliver Syndrome 2	Alopecia, Microcephaly, Low anterior hairline, Cerebral atrophy, Retrocerebellar cyst, Lateral ve...	OMIM:614219
Gomez-Lopez-Hernandez Syndrome	Fusion of the cerebellar hemispheres, Alopecia, Agenesis of cerebellar vermis, Cerebellar vermis ...	OMIM:601853
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Alopecia, Prematurely aged appearance, Short stature, Progeroid facial appearance, Ab...	ORPHA:90154
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Prominent superficial veins, Inguinal hernia, Flexion contracture, Elbow flexion cont...	OMIM:614438
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Short stature, Cachexia, Joint stiffness	ORPHA:1144
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, ...	OMIM:618484
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma	OMIM:244850
Ichthyosis, Congenital, Autosomal Recessive 2	Anhidrosis, Alopecia, Thin nail, Hypergranulosis, Abnormal hair morphology, Erythema, Hypohidrosi...	OMIM:242100
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Short stature, Flexion contracture, Osteolysis involving bones of the upper limbs, Oste...	ORPHA:88630
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Hypoesthesia, Dysplastic corpus callosum, Obesity, Secondary microc...	OMIM:619737
Parastremmatic Dwarfism	Severe short stature, Short neck, Kyphosis, Flexion contracture, Scoliosis	OMIM:168400
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Decreased circulating cerul...	OMIM:616828
Idiopathic Congenital Hypothyroidism	Delayed proximal femoral epiphyseal ossification, Macroglossia, Prolonged neonatal jaundice, Umbi...	ORPHA:95717
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia, Ataxia, Diffuse white matter abnormalities, Gait apraxia, Dysmetria, Leukoencephalopath...	OMIM:600142
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ragged-red muscle fibers, Slender build, Cachexia, Weight loss	OMIM:613662
Bone Marrow Failure Syndrome 3	Aplastic anemia, Pancreatic steatosis, Reduced bone mineral density, Hernia, Neutropenia, Sparse ...	OMIM:617052
Donohue Syndrome	Skeletal muscle atrophy, Postnatal growth retardation, Adipose tissue loss, Long penis, Acanthosi...	OMIM:246200
Short Syndrome	Joint laxity, Prominent superficial veins, Inguinal hernia, Small for gestational age, Lipodystro...	OMIM:269880
Mantle Cell Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:52416
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Failure to thrive, Microcytic anemia, Cutis laxa, Hyperkeratosis, ...	OMIM:612379
Satoyoshi Syndrome	Alopecia, Short stature, Osteolytic defects of the phalanges of the hand, Skeletal muscle hypertr...	OMIM:600705
Cutis Laxa, Autosomal Dominant 2	Premature skin wrinkling, Scoliosis, Cutis laxa	OMIM:614434
Amyloidosis, Primary Localized Cutaneous, 1	Amyloidosis, Dry skin, Scaling skin	OMIM:105250
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Sparse scalp hair, Short stature, Premature graying of hair, Anemi...	ORPHA:3322
Spastic Paraplegia 11, Autosomal Recessive	Ataxia, Degeneration of the lateral corticospinal tracts, Impaired distal vibration sensation, Im...	OMIM:604360
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Hypoalbuminemia, Hepatic fibro...	ORPHA:14
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Impaired distal proprioception, Abnormal thalamic MRI signal intens...	ORPHA:70595
Hereditary Mucoepithelial Dysplasia	Sparse hair, Hyperkeratosis, Alopecia, Fine hair	ORPHA:1839
Incontinentia Pigmenti	Ridged nail, Hemivertebrae, Coarse hair, Pallor, Sparse hair, Atrophic, patchy alopecia, Alopecia...	OMIM:308300
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci...	OMIM:214950
Seckel Syndrome	Sparse scalp hair, Prematurely aged appearance, Abnormal dental enamel morphology, Cachexia, Cran...	ORPHA:808
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Hepatomegaly, Alopecia, Brittle hair, Short stature, Intrauterine growth retardation, Failure to ...	ORPHA:50812
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Synophrys, Wide penis, Hypoplastic vertebral bodies, Vesicoureteral reflux, Sparse ha...	ORPHA:3455
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
Pachyonychia Congenita	Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex...	ORPHA:2309
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia	OMIM:617585
Mitochondrial Myopathy, Infantile, Transient	Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration, Facia...	OMIM:500009
Mucolipidosis Iv	Cerebellar atrophy, Cerebral dysmyelination, Progressive neurologic deterioration, Microcephaly, ...	OMIM:252650
Costello Syndrome	Deep-set nails, Abnormal fingernail morphology, Redundant skin, Failure to thrive in infancy, Con...	ORPHA:3071
Hepatoerythropoietic Porphyria	Facial hypertrichosis, Hemolytic anemia, Purple urine, Osteopenia, Scarring, Abnormal circulating...	ORPHA:95159
Ichthyosis, Lamellar, Autosomal Dominant	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Progressive Pseudorheumatoid Arthropathy Of Childhood	Irregularity of vertebral bodies, Infancy onset short-trunk short stature, Abnormal circulating C...	ORPHA:1159
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Sparse hair, Alope...	OMIM:604536
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ...	OMIM:209950
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:619175
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Gilbert Syndrome	Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia	OMIM:143500
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive	OMIM:612075
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Joint st...	OMIM:252920
Epidermolysis Bullosa Dystrophica, Pretibial	Hyperkeratosis, Atrophic scars, Nail dystrophy	OMIM:131850
Pontocerebellar Hypoplasia, Type 11	Broad-based gait, Ataxia, Microcephaly, Hypoplasia of the pons, Inability to walk, Limb ataxia, C...	OMIM:617695
Xq27.3Q28 Duplication Syndrome	Short stature, Truncal obesity, Intrauterine growth retardation, Failure to thrive, Sparse body hair	ORPHA:261483
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Anhidrosis, Alopecia, Abnormal fingernail morphology, Thickened skin, Ankylosis, Erythema, Osteol...	ORPHA:659
Premature Ovarian Failure 2B	Osteoporosis, Delayed puberty	OMIM:300604
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Decreased body weigh...	OMIM:614833
Aapoaiv Amyloidosis	Back pain, Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, H...	ORPHA:439232
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Premature Aging Syndrome, Penttinen Type	Prominent superficial veins, Flexion contracture of finger, Prematurely aged appearance, Recurren...	OMIM:601812
Bruck Syndrome 1	Joint laxity, Hip contracture, Short stature, Ankle flexion contracture, Kyphosis, Elbow flexion ...	OMIM:259450
Geroderma Osteodysplastica	Beaking of vertebral bodies, Severe short stature, Prematurely aged appearance, Redundant skin, R...	ORPHA:2078
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Inguinal hernia, Kyphoscoliosis, Short neck, Acanthocytosis, Flexion contractu...	OMIM:618947
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduri...	OMIM:613070
Cranioectodermal Dysplasia 2	Cholangitis, Short neck, Renal cyst, Ectodermal dysplasia, Sparse hair, Joint laxity, Hepatomegal...	OMIM:613610
Weaver Syndrome	Deep-set nails, Hypoplasia of penis, Inguinal hernia, Abnormal fingernail morphology, Thin nail, ...	ORPHA:3447
Pontocerebellar Hypoplasia Type 2	Cerebellar vermis hypoplasia, Abnormal cortical gyration, Dysplastic corpus callosum, Hypoplasia ...	ORPHA:2524
Pyruvate Dehydrogenase E1-Beta Deficiency	Ataxia, Periventricular heterotopia, Periventricular cysts, Cerebellar hypoplasia, Hypoplasia of ...	ORPHA:255138
Lipodystrophy, Familial Partial, Type 7	Reduced subcutaneous adipose tissue, Sparse scalp hair, Failure to thrive, Hypertriglyceridemia, ...	OMIM:606721
Bazex Syndrome	Parakeratosis, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Scaling sk...	ORPHA:166113
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Osteopenia, Increased bone mineral density, Short statur...	OMIM:239000
Fontaine Progeroid Syndrome	Redundant skin, Hypoplasia of the abdominal wall musculature, Synophrys, Low anterior hairline, C...	OMIM:612289
Heyn-Sproul-Jackson Syndrome	Sparse hair, Microcephaly, Decreased body weight	OMIM:618724
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, El...	OMIM:606612
New-Onset Refractory Status Epilepticus	Abnormal basal ganglia MRI signal intensity, Cerebellar edema, Confusion, Abnormal thalamic MRI s...	ORPHA:363558
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Distal lower limb amyotrophy, Alopecia, Failure to thrive, Scarring, Craniosynostosis, Erythema, ...	ORPHA:79396
Aredyld	Ectodermal dysplasia, Generalized hypotrichosis	OMIM:207780
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Joint hyperflexibility, Osteoporosis	ORPHA:2787
Hurler-Scheie Syndrome	Hepatomegaly, Short stature, Abnormality of the tonsils, Splenomegaly, Limitation of joint mobili...	ORPHA:93476
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu...	ORPHA:88618
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia, Failure to ...	OMIM:230350
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Splenomegaly, Hyperlipidemia, Jaundice, Lym...	ORPHA:79477
Uruguay Faciocardiomusculoskeletal Syndrome	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele...	OMIM:300280
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	OMIM:603552
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Thickened skin, Lymphadenopathy, Fine hair...	ORPHA:2221
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, De...	OMIM:616299
Wiedemann-Rautenstrauch Syndrome	Short neck, Flexion contracture, Hypoplasia of the thymus, Generalized amyotrophy, Absent eyebrow...	OMIM:264090
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse scalp hair, Pancytopenia, Aplastic anemia, Sparse eyelashes, Pterygium of nails, Osteoporo...	OMIM:224230
Sandhoff Disease	Splenomegaly, Hepatomegaly, Failure to thrive, Kyphosis	ORPHA:796
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Absent peripheral lymph nodes in presence of infection, Increased T cell count, Hypoh...	ORPHA:98813
Trichotillomania	Alopecia	OMIM:613229
Myoclonic-Astatic Epilepsy	Premature skin wrinkling, Frontal balding	ORPHA:1942
Shashi-Pena Syndrome	Highly arched eyebrow, Unilateral renal agenesis, Kyphosis, Synophrys, Osteoporosis, Limb hyperto...	OMIM:617190
Griscelli Syndrome	Hepatomegaly, Abnormal eyebrow morphology, Short stature, Abnormality of neutrophils, Abnormal ey...	ORPHA:381
De Barsy Syndrome	Osteopenia, Decreased muscle mass, Inguinal hernia, Lipodystrophy, Short stature, Progeroid facia...	ORPHA:2962
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Inguinal hernia, Osteoporosis	ORPHA:2958
Fg Syndrome Type 1	Limited elbow extension and supination, Sacral dimple, Inguinal hernia, Hypospadias, Progressive ...	ORPHA:93932
Holocarboxylase Synthetase Deficiency	Alopecia, Hyperammonemia, Weight loss, Growth delay, Organic aciduria, Thrombocytopenia	ORPHA:79242
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Cerebellar vermis hypoplasia, Highly arched eyebrow, Microcephaly, Low anterior hairline, Hirsuti...	ORPHA:466688
Sialidosis Type 1	Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Short stature, Splenom...	ORPHA:812
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Short stature, Hep...	OMIM:232220
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hypohidrosis, Hyperk...	OMIM:602400
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Myositis, Cervical lymphadenopathy, Oligoarthritis, AA amyloidosis, Hepatic amyloid...	OMIM:142680
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Joint laxity, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Angulated muscle fiber...	OMIM:617066
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Proteinuria, Camptodactyly of finger, Cachexia, Limitation of joint mobility, Osteolysis, Metacar...	ORPHA:2774
Systemic Lupus Erythematosus 17	Alopecia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia, Thrombocytopenia	OMIM:301080
Trichothiodystrophy 3, Photosensitive	Failure to thrive, Brittle hair, Short stature, Abdominal adhesions, Ichthyosis, Cutaneous photos...	OMIM:616395
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Severe short stature, Thoracolumbar sco...	OMIM:313420
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteopenia, Osteoporosis, Delayed puberty	OMIM:615271
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Short stature, Cachexia, Short neck, Elbow flexion contracture, Knee flexion con...	ORPHA:371364
Osteoporosis	Osteoporosis	OMIM:166710
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c...	OMIM:614817
Infantile Systemic Hyalinosis	Osteopenia, Severe short stature, Telangiectasia of the skin, Camptodactyly of finger, Osteomalac...	ORPHA:2176
Prieto Syndrome	Inguinal hernia, Osteoporosis	OMIM:309610
Psoriasis 14, Pustular	Parakeratosis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein concentration, ...	OMIM:614204
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ...	OMIM:232700
Trichohepatoenteric Syndrome 1	Brittle hair, Hypoalbuminemia, Hepatic fibrosis, Sparse hair, Intrauterine growth retardation, He...	OMIM:222470
Hurler-Scheie Syndrome	Hepatomegaly, Inguinal hernia, Short stature, Camptodactyly of finger, Thenar muscle atrophy, Hep...	OMIM:607015
Idiopathic Hypercalciuria	Osteopenia, Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalat...	ORPHA:2197
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Short stature, Bone-...	OMIM:607616
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Short stature, Fine hair, Hyperkeratosis, Pili torti	ORPHA:1573
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Craniofrontonasal Dysplasia	Hypospadias, Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality of hair textur...	ORPHA:1520
Liver Disease, Severe Congenital	Dry hair, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytos...	OMIM:619991
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Compl...	OMIM:557000
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Short stature, Camptodactyly of finger, Recurrent fractures, Short neck, Kyp...	ORPHA:3409
Desbuquois Syndrome	Severe short stature, Camptodactyly of finger, Short neck, Abnormal eyelash morphology, Aplasia/H...	ORPHA:1425
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne...	OMIM:300908
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Prematurely aged appearance, Short stature, Progeroid faci...	ORPHA:90153
Mucopolysaccharidosis, Type Iva	Joint laxity, Hepatomegaly, Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Short neck, H...	OMIM:253000
Osteoporosis, Juvenile	Osteoporosis	OMIM:259750
Schimke Immunoosseous Dysplasia	Osteopenia, Short neck, Abnormal T cell morphology, Coarse hair, Thoracic kyphosis, Neutropenia, ...	OMIM:242900
Tooth Agenesis, Selective, 8	Sparse eyebrow, Dry skin, Sparse hair	OMIM:617073
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Cholestasis, Obesity, Hyperbilirubinemia	OMIM:609734
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria, Severe short stature, Osteoporosis, Muscular dystrophy	OMIM:204730
Cardiocranial Syndrome, Pfeiffer Type	Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, H...	ORPHA:2872
Brachyolmia Type 1, Hobaek Type	Back pain, Osteopenia, Short neck, Kyphosis, Disproportionate short-trunk short stature, Squared-...	OMIM:271530
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum	ORPHA:250972
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Short stature, Scoliosis, Hirsutism	OMIM:300434
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopat...	OMIM:304790
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Calf muscle pseudohypertrophy, Hypert...	ORPHA:79083
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul...	OMIM:610717
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H...	OMIM:614480
Short Syndrome	Alopecia, Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Severe short stature...	ORPHA:3163
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti...	ORPHA:3202
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Aplasia/Hypoplasia of the cerebellar vermis, Abnormality of the anterior ...	ORPHA:75389
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn...	ORPHA:288
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal...	ORPHA:1414
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Adrenoleukodystrophy	Alopecia, Limb ataxia, Abnormal cerebral white matter morphology, Dementia, Attention deficit hyp...	OMIM:300100
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Prominent superficial veins, Small for gestational age, Short stature, Kyphoscoliosis, Hyperlordo...	OMIM:616817
Filippi Syndrome	Cerebellar atrophy, Microcephaly, Decreased body weight, Sparse hair, Frontal hirsutism, Hypertri...	OMIM:272440
Mixed Connective Tissue Disease	Hemolytic anemia, Alopecia, Hepatomegaly, Myositis, Joint stiffness, Splenomegaly, Mediastinal ly...	ORPHA:809
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmoplant...	OMIM:605676
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Alopecia, Hyperphosphaturia, Short stature, Recurrent fractures, Kyphoscoliosis, Hors...	OMIM:163200
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Spondyloepiphyseal Dysplasia Tarda	Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck...	ORPHA:93284
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Primary microcephaly	OMIM:618010
Ulerythema Ophryogenesis	Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, Sparse lateral eyebrow	ORPHA:3406
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis, Join...	OMIM:618323
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Congenital Disorder Of Glycosylation, Type Ie	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:608799
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Back pain, Kyphoscoliosis, Cervical spondylosis, Alopecia of scalp, Localized osteoporosis	ORPHA:199354
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Prominent superficial veins, Failure to thrive, Decreased muscle mass, Redundant skin...	OMIM:612940
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Joint laxity, Dorsocervical fat pad, Small for gestational age, Kyphoscoliosis, Short neck, Propo...	ORPHA:391408
Juvenile Paget Disease	Short stature, Recurrent fractures, Cranial hyperostosis, Osteoporosis, Hyperuricemia, Coarse met...	ORPHA:2801
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Elevated circulating phytanic acid concentration, Osteoporosis, Hypocholesterolemia...	OMIM:266510
Cardiofaciocutaneous Syndrome	Brittle hair, Slow-growing hair, Redundant skin, Failure to thrive in infancy, Short neck, Abnorm...	ORPHA:1340
Idiopathic Achalasia	Decreased prealbumin level, Weight loss	ORPHA:930
Vitamin D-Dependent Rickets, Type 2A	Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sp...	OMIM:277440
Focal Facial Dermal Dysplasia 3, Setleis Type	Aged leonine appearance, Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis	OMIM:227260
Naxos Disease	Sparse scalp hair, Curly hair, Abnormality of hair texture, Hyperhidrosis, Palmoplantar keratoder...	ORPHA:34217
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay, Aminoaciduria	ORPHA:79238
Cerebrooculofacioskeletal Syndrome 2	Small for gestational age, Camptodactyly of finger, Kyphoscoliosis, Growth delay, Sparse hair, In...	OMIM:610756
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a...	ORPHA:363400
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis	OMIM:609638
Noonan Syndrome 8	Curly hair, Short stature, Short neck, Large for gestational age, Hyperkeratosis, Palmoplantar cu...	OMIM:615355
Congenital Ichthyosiform Erythroderma	Alopecia, Short stature, Hypohidrosis, Palmoplantar keratoderma, Ichthyosis, Failure to thrive, A...	ORPHA:79394
Acute Disseminated Encephalomyelitis	Somatic sensory dysfunction, Hypointensity of cerebral white matter on MRI, Ataxia, Confusion, Ab...	ORPHA:83597
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Ataxia, Microcephaly, Inability to walk, Hirsutism, Dysmetria, Cerebellar hypoplasia, Sparse hair...	OMIM:618087
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Renal cyst, Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospa...	OMIM:614866
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Degcags Syndrome	Osteopenia, Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Premature graying of ha...	OMIM:619488
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Osteopenia, Sparse scalp hair, Recurrent fractures, Postnatal growth retardation, Fine hair, Join...	ORPHA:2324
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Atrophic scars, Sparse hair, Distichiasis, Sparse latera...	ORPHA:79133
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Skeletal muscle atrophy, Short stature, Abnormal dental enamel morphology, Trichi...	OMIM:601701
Cholestasis, Progressive Familial Intrahepatic, 5	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Elevated circul...	OMIM:617049
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Thick hair, Kyphosis, Synophrys, Low posterior hairline, Truncal obesity, Scoliosis, Thick eyebrow	ORPHA:2429
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Hepatic steatosis, Joint...	OMIM:613658
Leopard Syndrome 3	Curly hair, Short stature, Epidermal hyperkeratosis, Short neck, Low posterior hairline, Growth d...	OMIM:613707
Hypomelanosis Of Ito	Gray matter heterotopia, Alopecia, Cerebral atrophy, Microcephaly	OMIM:300337
Whipple Disease	Hyponatremia, Hepatomegaly, Myositis, Cachexia, Mediastinal lymphadenopathy, Splenomegaly, Arthri...	ORPHA:3452
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Familial Thyroid Dyshormonogenesis	Delayed proximal femoral epiphyseal ossification, Macroglossia, Prolonged neonatal jaundice, Umbi...	ORPHA:95716
Riboflavin Transporter Deficiency	Skeletal muscle atrophy, Limb muscle weakness, Facial palsy, Cachexia	ORPHA:97229
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demi...	OMIM:600785
Pili Torti, Early-Onset	Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr...	OMIM:261900
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Hip contracture, Thin bony cortex, Short stature, Interphalangeal joint contracture o...	OMIM:259600
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Jaundice, Osteopo...	ORPHA:79239
Elastoderma	Premature skin wrinkling, Cutis laxa	ORPHA:228240
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Short stature, Anisocytosis, Abnormal erythrocyte morphology, Incr...	ORPHA:98870
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Low back pain, Renal insufficiency, Dysuria, Elevated circulating C-reactive p...	ORPHA:49041
Lissencephaly 7 With Cerebellar Hypoplasia	Microcephaly, Low anterior hairline, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus cal...	OMIM:616342
Aromatase Deficiency	Eunuchoid habitus, Osteopenia, Enlarged polycystic ovaries, Hyperlipidemia, Delayed epiphyseal os...	ORPHA:91
Focal Facial Dermal Dysplasia Type Iii	Sparse lower eyelashes, Redundant skin, Abnormal hair pattern, Highly arched eyebrow, Prematurely...	ORPHA:1807
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Alopecia, Short stature, Unilateral renal agenesis, Elevated 8-dehydrocholesterol,...	OMIM:308050
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Progressive neurologic deterioration, Reduced cerebral white matter vo...	OMIM:618253
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Proteinuria, Short stature, D...	OMIM:232200
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int...	OMIM:243300
Opitz-Kaveggia Syndrome	Sacral dimple, Lumbar hyperlordosis, Hypospadias, Multiple joint contractures, Facial wrinkling, ...	OMIM:305450
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:2348
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, Po...	OMIM:130060
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Mediastinal lym...	ORPHA:83469
Cartilage-Hair Hypoplasia	Sparse facial hair, Neutropenia, Sparse hair, Neonatal short-limb short stature, Joint laxity, Lu...	OMIM:250250
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Inguinal hernia, Severe short stature, Abnormality of subcutaneous fat tissue, Osteom...	ORPHA:1901
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Elevated circulating C-reactive pro...	OMIM:617388
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Dry skin, Prolonged neonatal jaundice, Umbilical hernia, Abnormal ...	ORPHA:95715
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Abnormal dental enamel morphology, Highly arched eyebrow, Hyperlordosis, Synophrys, Abn...	ORPHA:3253
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Renal insufficiency, Hemolytic anemia, Reticulocytosis, Rhabd...	ORPHA:713
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of...	ORPHA:2269
Trichothiodystrophy	Ridged nail, Osteopenia, Brittle hair, Multiple joint contractures, Thoracic kyphosis, Neutropeni...	ORPHA:33364
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar atrophy, Small for gestational age, Reduced cerebral white matter volume, Simplified g...	OMIM:615095
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Hypocalcemia, Cachexia, Short neck	ORPHA:1438
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Dark yellow urine, Conjug...	ORPHA:30391
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Failure to thrive, Sparse eyelashes, Increased circulating free fatty acid level, Spars...	OMIM:610768
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A...	OMIM:607823
Incontinentia Pigmenti	Hyperhidrosis, Abnormal toenail morphology, Spina bifida occulta, Abnormality of the nail, Alopec...	ORPHA:464
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebellar vermis hypoplasia, Highly arched eyebrow, Dysplastic corpus callosum, Cerebral atrophy...	OMIM:616900
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Disproportionate short stature,...	ORPHA:40
Hypergonadotropic Hypogonadism-Cataract Syndrome	Short stature, Recurrent fractures, Osteoporosis, Reduced bone mineral density, Delayed puberty	ORPHA:2410
Gm1-Gangliosidosis, Type I	Hepatomegaly, Inguinal hernia, Severe short stature, Short neck, Joint stiffness, Splenomegaly, K...	OMIM:230500
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Osteoporosis	OMIM:619971
Aceruloplasminemia	Ataxia, Akinesia, Chorea, Abnormal thalamic MRI signal intensity, Limb ataxia, Gait ataxia, Cogni...	ORPHA:48818
Odontoonychodermal Dysplasia	Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Hyperhidrosis, Dystrophic fingernails, Thin n...	OMIM:257980
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Back pain, Failure to thrive,...	ORPHA:905
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Abnormal eyebrow morphology, Alopecia, Lumbar hyperlordosis, Sparse facial hair, Smal...	ORPHA:2232
Lowry-Maclean Syndrome	Osteopenia, Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Craniosynostosis, Abno...	ORPHA:2409
Cantú Syndrome	Ovoid vertebral bodies, Curly eyelashes, Cardiomegaly, Short neck, Cuboid-shaped vertebral bodies...	ORPHA:1517
Cushing Disease	Plethora, Increased body weight, Ecchymosis, Flushing, Poor wound healing, Leukocytosis, Osteopor...	ORPHA:96253
Occipital Horn Syndrome	Joint laxity, Decreased circulating ceruloplasmin concentration, Decreased circulating copper con...	OMIM:304150
Myeloma, Multiple	Amyloidosis	OMIM:254500
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Cardiofaciocutaneous Syndrome 4	Joint laxity, Absent eyebrow, Curly hair, Sparse eyelashes, Short stature, Palmoplantar hyperkera...	OMIM:615280
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Supernumerary nipple, Truncal obesity, Cerebral cortical atrophy, Cerebellar hypoplasia...	ORPHA:3224
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Parakeratosis, Hepatomegaly, Aplastic anemia, Pa...	ORPHA:398124
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse hair, Agenesis of corpus callosum, Sparse eyebrow, Microcephaly	OMIM:619989
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Failure to thrive, Conjugated hyperbilirubinemia, Intrahepatic cho...	OMIM:619484
Intellectual Developmental Disorder, Autosomal Dominant 65	Ataxia, Synophrys, Low posterior hairline, Thin eyebrow, Attention deficit hyperactivity disorder...	OMIM:619320
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos...	OMIM:607330
Ogden Syndrome	Redundant neck skin, Redundant skin, Cardiomegaly, Short neck, Microvesicular hepatic steatosis, ...	OMIM:300855
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Joint laxity, Carpal synostosis, Short stature, Kyphoscoliosis, Advanced ossification...	OMIM:615349
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy...	ORPHA:275761
Netherton Syndrome	Sparse scalp hair, Parakeratosis, Brittle hair, Brittle scalp hair, Sparse eyebrow, Angioedema, H...	OMIM:256500
Trichodental Dysplasia	Brittle hair, Slow-growing hair, Microcephaly, Fine hair, Sparse hair	OMIM:601453
Johanson-Blizzard Syndrome	Alopecia, Hypoplasia of penis, Hypospadias, Short stature, Abnormal hair pattern, Abnormality of ...	ORPHA:2315
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride...	OMIM:608600
Baralle-Macken Syndrome	Urinary incontinence, Kyphosis, Hirsutism, Obesity, Acanthosis nigricans, Striae distensae	OMIM:619255
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Nephrocalcinosis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, Short...	ORPHA:79259
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, I...	OMIM:615821
Lamellar Ichthyosis	Renal insufficiency, Short stature, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Sparse h...	ORPHA:313
Poems Syndrome	Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Thickened skin, Leukonychia, Lymph...	ORPHA:2905
Mucolipidosis Ii Alpha/Beta	Osteopenia, Brittle hair, Increased serum beta-hexosaminidase, Cardiomegaly, Sparse hair, Hepatom...	OMIM:252500
Zimmermann-Laband Syndrome 2	Thick eyebrow, Short stature, Short neck, Kyphosis, Synophrys, Widow's peak, Macroglossia, Long e...	OMIM:616455
Odontochondrodysplasia 1	Biconvex vertebral bodies, Short stature, Osteoporosis, Coronal cleft vertebrae, Platyspondyly, M...	OMIM:184260
Menkes Disease	Hypopigmentation of hair, Osteomyelitis, Inguinal hernia, Recurrent fractures, Tarsal synostosis,...	ORPHA:565
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto...	OMIM:601775
Mucopolysaccharidosis, Type Vii	Short neck, Flexion contracture, Coarse hair, Anterior beaking of lumbar vertebrae, Hepatomegaly,...	OMIM:253220
Even-Plus Syndrome	Highly arched eyebrow, Dysplastic corpus callosum, Synophrys, Sparse hair, Agenesis of corpus cal...	OMIM:616854
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Microcephaly, Partial ...	OMIM:234050
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashe...	OMIM:137940
Dystrophic Epidermolysis Bullosa Pruriginosa	Scarring, Hyperkeratosis, Atrophic scars, Nail dystrophy, Abnormal toenail morphology	ORPHA:89843
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis, Delayed puberty, Distichiasis, An...	ORPHA:2598
Neu-Laxova Syndrome	Osteopenia, Skeletal muscle atrophy, Osteomalacia, Abnormal eyelash morphology, Abnormal hair mor...	ORPHA:2671
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, 4-hydroxyphenylacetic aciduri...	OMIM:617156
Nail-Patella Syndrome	Back pain, Decreased muscle mass, Flexion contracture, Knee flexion contracture, Reduced bone min...	ORPHA:2614
Trichothiodystrophy 7, Nonphotosensitive	Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat...	OMIM:618546
Spinocerebellar Ataxia 48	Urinary incontinence, Cachexia	OMIM:618093
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Abnormal fingernail morpho...	ORPHA:75564
Joubert Syndrome 37	Hepatomegaly, Lumbar hyperlordosis, Short stature, Obesity, Sparse hair, Micropenis, Hydronephros...	OMIM:619185
Wrinkly Skin Syndrome	Osteopenia, Scapular winging, Inguinal hernia, Short stature, Redundant skin, Short nail, Progero...	OMIM:278250
Bruck Syndrome	Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoli...	ORPHA:2771
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Short neck, Delayed epiphyseal ossification, Flexion contracture, Renal cyst, Knee flexion contra...	OMIM:210710
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Osteomyelitis, Eosinophilia, Spinal canal stenosis, Cutaneous abscess, Dry skin, Joint ...	OMIM:618282
Acquired Ichthyosis	Renal insufficiency, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis, Dry skin	ORPHA:454
3P25.3 Microdeletion Syndrome	Cerebral white matter atrophy, Ataxia, Patent ductus arteriosus, Attention deficit hyperactivity ...	ORPHA:435638
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Shukla-Vernon Syndrome	Sparse hair, Broad-based gait, Cerebellar atrophy, Attention deficit hyperactivity disorder	OMIM:301029
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Synophrys, Renal cyst, Joint laxity, Hypospadias, Short stature, Osteopor...	OMIM:102500
Amyloidosis, Primary Localized Cutaneous, 2	Cutaneous amyloidosis	OMIM:613955
Carvajal Syndrome	Woolly hair, Patchy palmoplantar hyperkeratosis	ORPHA:65282
Mucopolysaccharidosis, Type Ivb	Joint laxity, Hepatomegaly, Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Joint stiffne...	OMIM:253010
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Patc...	OMIM:615387
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Jaundice, Schistocytosis, Elevated circu...	OMIM:274150
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Osteopenia, Flexion contracture, Iron deficiency anemia, Urinary bladder sphi...	ORPHA:79408
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Sparse hair, Ectodermal dysplasia, Sacral dimple, Umbilical hernia	OMIM:273390
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Hypohidrosis, Palmoplantar keratoderma, S...	OMIM:618535
Dubin-Johnson Syndrome	Hepatomegaly, Abnormal urinary color, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abno...	ORPHA:234
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Cachexia, Flexion contracture, Facial diplegia, Arthrogryposis multiplex ...	OMIM:618186
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Pallor, Increased total bilirubin	ORPHA:90037
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Small for gestational age, Kyphosc...	OMIM:268400
Cranioectodermal Dysplasia 1	Ectodermal dysplasia, Tubulointerstitial nephritis, Hepatic fibrosis, Hypocalcemia, Sparse hair, ...	OMIM:218330
Hutchinson-Gilford Progeria Syndrome	Alopecia, Absence of subcutaneous fat, Osteolysis, Growth delay, Generalized osteoporosis	OMIM:176670
Amyloidosis, Hereditary, Transthyretin-Related	Amyloidosis, Urinary incontinence, Cardiomegaly	OMIM:105210
Desbuquois Dysplasia 1	Joint laxity, Severe short stature, Hyperlordosis, Short neck, Kyphosis, Osteoarthritis, Osteopor...	OMIM:251450
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Urinary incontinence, Cachexia, Upper-limb joint contracture, Distal amy...	ORPHA:300605
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Muscle hemorrhage, Os...	ORPHA:464321
Hereditary Sensory And Autonomic Neuropathy Type 2	Skeletal muscle atrophy, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced bone mineral den...	ORPHA:970
Hijazi-Reis Syndrome	Postnatal growth retardation, Hyperbilirubinemia	OMIM:301094
Scarf Syndrome	Inguinal hernia, Diastasis recti, Craniosynostosis, Short neck, Hepatocellular adenoma, Abnormal ...	ORPHA:3134
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Thenar muscle at...	OMIM:612394
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj...	ORPHA:567983
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Weight loss, Hyperhidrosis, Lymphadenopathy	ORPHA:86893
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Osteoarthritis, Reduced bone mineral density, Generalized ab...	ORPHA:740
Combined Oxidative Phosphorylation Defect Type 23	Abnormal basal ganglia MRI signal intensity, Failure to thrive, Abnormal thalamic MRI signal inte...	ORPHA:444013
Centrifugal Lipodystrophy	Reduced subcutaneous adipose tissue, Alopecia, Lipoatrophy, Lack of facial subcutaneous fat, Lymp...	ORPHA:90156
Gaucher Disease Type 1	Osteopenia, Osteoarthritis, Leukopenia, Biliary tract obstruction, Hepatomegaly, Increased bone m...	ORPHA:77259
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Osteoporosis, Scolio...	OMIM:613849
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Amyloidosis	OMIM:204850
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Perrault Syndrome 1	Short stature, Osteoporosis, Scoliosis	OMIM:233400
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Cerebral dysmyelination, Microcephaly, Hypoplasia of the pons, Abno...	ORPHA:101070
Myofibrillar Myopathy 10	Elevated circulating creatine kinase concentration, Ankle flexion contracture, Kyphosis, Elbow fl...	OMIM:619040
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Upper limb amyotrophy, Scoliosis, Lower limb amyotrophy, Foot dorsiflexor weakness	OMIM:617087
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife...	OMIM:619644
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Omphalocele, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis,...	ORPHA:371428
Ane Syndrome	Alopecia, Decreased response to growth hormone stimulation test, Reduced circulating prolactin co...	ORPHA:157954
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Short stature, Joint stiffness, Postnatal growth retardation, Splenomegaly, Reduced...	OMIM:620210
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Alopecia, Proteinuria, Abnormality of body weight, Decreased body weight, Abnor...	ORPHA:2298
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Amyloidosis, Cutaneous Bullous	Amyloidosis	OMIM:204900
Cataract-Intellectual Disability-Hypogonadism Syndrome	Prematurely aged appearance, Short stature, Hyperlordosis, Low posterior hairline, Scoliosis, Abn...	ORPHA:1387
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker...	OMIM:617526
Primary Biliary Cholangitis	Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Osteoporosis, Bili...	ORPHA:186
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Hypertriglyceridemia, Proteinuria, Eleva...	OMIM:619127
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Elevated circulating creatine kinase con...	ORPHA:329178
Pseudohypoparathyroidism, Type Ia	Short stature, Short neck, Osteoporosis, Obesity, Hyperphosphatemia, Subcutaneous ossification, L...	OMIM:103580
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Pericardial lymphangiectasia, Pulmonary lymphangiectasia, Osteoporosis, Growth delay, Camptodacty...	OMIM:616006
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Microcephaly, Corpus callosum atrophy, Low anterior hairline, Hirsutism, S...	OMIM:619244
Intellectual Developmental Disorder, Autosomal Dominant 26	Inguinal hernia, Small for gestational age, Short stature, Highly arched eyebrow, Kyphosis, Umbil...	OMIM:615834
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair	ORPHA:69735
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia of scalp, Alopecia, Palmoplantar keratoderma, Nail dystrophy	OMIM:618373
Choroidal Atrophy-Alopecia Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye...	ORPHA:1433
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Platyspondyly, Osteoporosis, Dentinogenesis imperfecta, Short stature	ORPHA:71267
Microphthalmia, Syndromic 8	Premature skin wrinkling	OMIM:601349
Braddock-Carey Syndrome 1	Curly hair, Multicystic kidney dysplasia, Hyperlordosis, Growth delay, Camptodactyly, Sparse hair...	OMIM:619980
Pseudopseudohypoparathyroidism	Short stature, Short neck, Osteoporosis, Obesity, Enamel hypoplasia	OMIM:612463
X-Linked Creatine Transporter Deficiency	Short stature, Redundant skin, Cachexia, Abnormal circulating creatine concentration, Joint hyper...	ORPHA:52503
Alpha-Mannosidosis	Hepatomegaly, Craniofacial hyperostosis, Inguinal hernia, Short neck, Splenomegaly, Kyphosis, Mac...	ORPHA:61
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Hepatomegaly, Redundant neck skin, Hypospadias, Elevated circulati...	OMIM:301056
Syndromic Diarrhea	Brittle hair, Abnormality of the liver, Hypoplasia of the thymus, Hepatic fibrosis, Hepatoblastom...	ORPHA:84064
Pseudohypoparathyroidism, Type Ic	Short stature, Short neck, Osteoporosis, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cy...	OMIM:612462
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal fingernail morphology, Abnormal dental enamel morphology, Hypoplastic toenails, Fine hai...	ORPHA:1028
X-Linked Hypohidrotic Ectodermal Dysplasia	Sparse hair, Anterior hypopituitarism, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:181
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ...	OMIM:235400
Nijmegen Breakage Syndrome	Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Skeletal muscle atrophy, S...	ORPHA:647
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elevated ci...	OMIM:618138
Proteus Syndrome	Decreased muscle mass, Neoplasm of the thymus, Abnormal form of the vertebral bodies, Renal cyst,...	ORPHA:744
Macrocephaly/Autism Syndrome	Joint laxity, Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, C...	OMIM:605309
Eiken Syndrome	Abnormal trabecular bone morphology, Absence of the sacrum, Short stature, Delayed epiphyseal oss...	ORPHA:79106
Reynolds Syndrome	Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Biliary cirrhosi...	OMIM:613471
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Short stature, Cachexia, Joint stiffness, Kyphosis, Scoliosis	ORPHA:702
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Chronic noninfectious lymphadenopathy, Weight loss	ORPHA:100083
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Cachexia, Abnormal form of the vertebra...	ORPHA:93941
Cardiofaciocutaneous Syndrome 1	Osteopenia, Absent eyebrow, Curly hair, Hyperextensibility of the finger joints, Slow-growing hai...	OMIM:115150
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Failure to thrive, Focal T2 hyperintense thalamic lesion, Ataxia	OMIM:619046
Autism Spectrum Disorder Due To Auts2 Deficiency	Inguinal hernia, Small for gestational age, Short stature, Highly arched eyebrow, Kyphosis, Conge...	ORPHA:352490
Distal Duplication 6P	Abnormal hair quantity, Sacral dimple, Short stature, Short neck, Abnormal eyelash morphology, Re...	ORPHA:1745
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Skeletal muscle atrophy, Elevated circulating C-reactive...	OMIM:256040
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Recurrent fractures, Abnormal circulating calcium concentration, Delayed...	OMIM:241530
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow	OMIM:614564
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Scapular winging, Ivory epiphyses of the distal phalanges of the hand, Slow-growing h...	OMIM:190350
Adams-Oliver Syndrome	Alopecia, Failure to thrive, Cutis marmorata, Portal hypertension, Congenital hepatic fibrosis, A...	ORPHA:974
Cockayne Syndrome A	Dry hair, Ivory epiphyses of the phalanges of the hand, Sparse hair, Micropenis, Loss of facial a...	OMIM:216400
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Hepatomegaly, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen...	ORPHA:254864
Dermoodontodysplasia	Sparse scalp hair, Hypohidrosis, Ectodermal dysplasia, Fingernail dysplasia, Trichodysplasia, Dry...	ORPHA:1660
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Chanarin-Dorfman Syndrome	Hepatomegaly, Alopecia, Myopathy, Congenital nonbullous ichthyosiform erythroderma, Hepatic steat...	OMIM:275630
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Generalized lymphadenopathy, Elevated circ...	ORPHA:50918
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair, Short stature, Ankle flexion contracture	OMIM:619985
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Skeletal muscle atrophy, Pos...	ORPHA:508
Rhombencephalosynapsis	Fusion of the cerebellar hemispheres, Septo-optic dysplasia, Agenesis of cerebellar vermis, Ataxi...	ORPHA:59315
Wrinkly Skin Syndrome	Osteopenia, Decreased muscle mass, Inguinal hernia, Lipodystrophy, Short stature, Kyphoscoliosis,...	ORPHA:2834
Joubert Syndrome 23	Dysplastic corpus callosum, Cerebellar dysplasia	OMIM:616490
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Polyuria, Osteoporosis, Rickets, Proximal tubulopathy, Failure to thrive	OMIM:560000
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Inguinal hernia, Erythema, Growth delay, Hyperkeratosis, Scaling skin, Congenital nonbullous icht...	OMIM:614457
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa...	OMIM:613280
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Short stature, Camptodactyly	OMIM:618453
Gm1 Gangliosidosis	Inguinal hernia, Short stature, Camptodactyly of finger, Hyperlordosis, Joint stiffness, Splenome...	ORPHA:354
Ichthyosis, Annular Epidermolytic, 1	Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Congenital b...	OMIM:607602
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Small hypothenar eminence, Osteoporosis, Horseshoe kidney, Growth ...	OMIM:612562
Oculoskeletodental Syndrome	Hepatomegaly, Small for gestational age, Hypercalcemia, Short stature, Splenomegaly, Low anterior...	OMIM:618440
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Inguinal hernia, Short stature, Recurrent fractures, Congenital diaphragmatic hernia,...	OMIM:245600
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Sandwich appearance of vertebral bodies, Increased bone mineral densi...	OMIM:259700
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Congenital kyphoscoliosis, Short stature, P...	ORPHA:536545
Farber Disease	Elevated hepatic transaminase, Skeletal muscle atrophy, Failure to thrive, Intrahepatic cholestas...	ORPHA:333
Juvenile Dermatomyositis	Calcinosis, Alopecia, Myositis, Telangiectasia of the skin, Elevated circulating creatine kinase ...	ORPHA:93672
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Hypospadias, Sparse eyebrow, Anhidroti...	OMIM:129400
Barber-Say Syndrome	Dermal translucency, Absent nipple, Sparse eyelashes, Redundant skin, Lipodystrophy, Sparse eyebr...	OMIM:209885
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Highly arched eyebrow, Abnormal thalamus morphology, Low anterior hairline, Attention deficit hyp...	ORPHA:404440
Laron Syndrome	Hypoplasia of penis, Severe short stature, Prematurely aged appearance, Osteoarthritis, Hypohidro...	ORPHA:633
Familial Acute Necrotizing Encephalopathy	Abnormal putamen morphology, Abnormal thalamus morphology, Gait disturbance, Cerebral edema	ORPHA:88619
Progressive Pseudorheumatoid Dysplasia	Camptodactyly of finger, Kyphoscoliosis, Joint stiffness, Osteoarthritis, Osteoporosis, Platyspon...	OMIM:208230
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Alopecia, Progressive cervical vertebral spine fusion, Ectopic o...	OMIM:135100
Netherton Syndrome	Sparse scalp hair, Sparse eyelashes, Short stature, Ectopic kidney, Sparse eyebrow, Abnormal hair...	ORPHA:634
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple...	OMIM:615631
Sulfite Oxidase Deficiency, Isolated	Sulfocysteinuria, Elevated circulating creatine kinase concentration, Increased urinary sulfite l...	OMIM:272300
Naxos Disease	Subungual hyperkeratosis, Curly hair, Abnormal morphology of right ventricular trabeculae, Acanth...	OMIM:601214
Japanese Encephalitis	Abnormal substantia nigra morphology, Paucity of anterior horn motor neurons, Choreoathetosis, Ab...	ORPHA:79139
Noonan Syndrome 14	Curly hair, Scapular winging, Short stature, Short neck, Sparse eyebrow, Kyphosis, Dry skin, Low ...	OMIM:619745
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Hyperkeratosis with erythema, Moderate postnatal growth retardation, Knee flexio...	OMIM:118650
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612926
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Short stature, Elevated circulating C-reactive protein concentra...	OMIM:616050
Fucosidosis	Cardiomegaly, Anterior beaking of thoracic vertebrae, Vacuolated lymphocytes, Flexion contracture...	OMIM:230000
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creati...	OMIM:615895
Classic Homocystinuria	Elevated hepatic transaminase, Hepatomegaly, Sparse scalp hair, Recurrent fractures, Joint stiffn...	ORPHA:394
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Weight loss, Hyperkeratosis, Ichthyosis, Palmoplantar keratoderma, Congenital bullous...	ORPHA:312
Keppen-Lubinsky Syndrome	Lipodystrophy, Progeroid facial appearance, Postnatal growth retardation, Congenital generalized ...	ORPHA:435628
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Increased bone mineral density, Petechiae, Facial palsy, Recurrent...	OMIM:611490
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Synophry...	OMIM:619064
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor...	ORPHA:113
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Failure to thrive, Increased urine succinate level, Intrahep...	OMIM:606812
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Skeletal muscle atrophy, Portal h...	ORPHA:367
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Small for gestational age, Abnormality of the pancreas, Jaundice, ...	ORPHA:69665
Localized Junctional Epidermolysis Bullosa	Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N...	ORPHA:251393
Autosomal Recessive Spastic Paraplegia Type 11	Short attention span, Abnormal substantia nigra morphology, Ataxia, Overweight, Inability to walk...	ORPHA:2822
Bresek Syndrome	Alopecia, Hemivertebrae, Renal hypoplasia, Growth delay, Scoliosis, Ichthyosis, Vesicoureteral re...	ORPHA:85284
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Myositis, L...	OMIM:617591
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Failure to thrive, Hypergranulosis, Acantholysis, Growth delay, Palmoplantar keratoderma, Hypoalb...	OMIM:615508
Pulmonary Blastoma	Weight loss	ORPHA:64741
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Episodic hyperhidrosis, Elevated circulating creatinine concentration, Growth delay, Scoliosis, I...	OMIM:223900
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat...	OMIM:613313
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Congenital Short Bowel Syndrome	Sparse hair, Displacement of the urethral meatus, Lipoatrophy, Short stature	ORPHA:2301
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ...	OMIM:232400
Normosmic Congenital Hypogonadotropic Hypogonadism	Eunuchoid habitus, Osteopenia, Generalized joint laxity, Delayed puberty, Osteoporosis, Breast hy...	ORPHA:432
Xp21 Deletion Syndrome	Joint laxity, Decreased muscle mass, Hypertriglyceridemia, Elevated circulating creatine kinase c...	ORPHA:261476
Familial Hyperprolactinemia	Osteopenia, Osteoporosis	ORPHA:397685
Free Sialic Acid Storage Disease	Hepatomegaly, Proteinuria, Failure to thrive in infancy, Splenomegaly, Aplasia/Hypoplasia of the ...	ORPHA:834
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, F...	ORPHA:79312
Trichothiodystrophy 2, Photosensitive	Short stature, Coarse hair, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Tiger t...	OMIM:616390
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Lipoatrophy, Sparse hair, Intrauterine growth retardation, Failure to thrive, Aplasia/Hypoplasia ...	ORPHA:261304
Roifman Syndrome	Hepatomegaly, Biconvex vertebral bodies, Hip contracture, Short stature, Eosinophilia, Postnatal ...	OMIM:616651
Mucolipidosis Type Ii	Dry hair, White hair, Knee flexion contracture, Telangiectases of the cheeks, Short stature, Thic...	ORPHA:576
Silver-Russell Syndrome	Decreased muscle mass, Failure to thrive in infancy, Hypospadias, Cachexia, Short stature, Postna...	ORPHA:813
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Inguinal hernia, Redundant neck skin, Prematurely aged appearance, Redu...	ORPHA:90348
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612924
Muckle-Wells Syndrome	Hepatomegaly, Short stature, Camptodactyly of finger, Splenomegaly, Urticaria, Nephrotic syndrome...	ORPHA:575
Cerebral Amyloid Angiopathy, Cst3-Related	Generalized amyloid deposition	OMIM:105150
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Skeletal muscle atrophy, Kyphosis, Osteoporosis, Truncal obesity, Bruising susceptibi...	OMIM:219080
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Increased urine succinate level, Elevated circulating aspartate aminotransferase co...	OMIM:619048
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Petechiae, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Hyperkeratosis, ...	OMIM:608013
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Hyperhidrosis, Orthokeratotic hyperke...	OMIM:148700
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni...	OMIM:278000
Hydrocephalus-Obesity-Hypogonadism Syndrome	Sparse facial hair, Absent facial hair, Short stature, Short neck, Obesity, Low posterior hairline	ORPHA:2183
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Agenesis of cerebellar vermis, Agenesis of corpus callosum, Fine hair	ORPHA:228390
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Thick hair, Splenomegaly, Cirrhos...	OMIM:613489
Xp22.13P22.2 Duplication Syndrome	Short stature, Congenital diaphragmatic hernia, Short neck, Truncal obesity, Scoliosis, Sparse ha...	ORPHA:284180
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Short stature, Elevated circulating creatine kinase concentration, Centr...	OMIM:248800
Cartilage-Hair Hypoplasia	Short neck, Abnormal form of the vertebral bodies, Hypocalcemia, Abnormal bone ossification, Neut...	ORPHA:175
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Thoracic scoliosis, Decreased muscle mass, Widened atrophic scar, Distal joint laxity...	ORPHA:1900
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Highly arched eyebrow, Microcephaly, Syno...	OMIM:617751
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo...	ORPHA:85450
Dyskeratosis Congenita, X-Linked	Ridged nail, Pterygium of nails, Hyperhidrosis, Premature graying of hair, Leukopenia, Split nail...	OMIM:305000
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Flexion contracture, Myopathy, Intrauterine growth retardation, Failure to thrive	OMIM:618237
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Pallor, Thrombocytopenia	ORPHA:517
Giant Axonal Neuropathy	Facial palsy, Scoliosis, Woolly hair, Limb muscle weakness, Abnormality of the Achilles tendon, J...	ORPHA:643
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis, Congenital fibrosis of extraocular muscles, Highly arched eyebrow	OMIM:609384
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul...	OMIM:600081
Spinocerebellar Ataxia, Autosomal Recessive 20	Hepatomegaly, Kyphoscoliosis, Splenomegaly, Oligosacchariduria, Macroglossia, Scoliosis, Camptoda...	OMIM:616354
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Kyphosis, Osteoporosis, Truncal obesity, Bruising susceptibility, Pancreatitis, Stria...	OMIM:610475
Prader-Willi Syndrome	Osteopenia, Hypopigmentation of hair, Decreased muscle mass, Failure to thrive in infancy, Short ...	OMIM:176270
Polyendocrine-Polyneuropathy Syndrome	Alopecia, Ataxia, Cerebellar hypoplasia, Anterior pituitary hypoplasia	ORPHA:453533
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Increased circulating ferritin...	OMIM:300635
Occipital Horn Syndrome	Osteopenia, Coarse hair, Femoral hernia, Osteomalacia, Scarring, Hiatus hernia, Osteoporosis, Hep...	ORPHA:198
Srd5A3-Cdg	Elevated hepatic transaminase, Microcytic anemia, Abnormal hair morphology, Kyphosis, Abnormal sa...	ORPHA:324737
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Periventricular heterotopia, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus...	OMIM:614105
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m...	ORPHA:324964
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Skeletal muscle atrophy, Alopecia, Acute hyperammonemia, Ketonuria, Hyperglycinuria, Hyperammonem...	OMIM:210210
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Small for gestational age, Short stature, Postnatal growth retardation, Hyperhidrosis, Fine hair,...	ORPHA:231137
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Short stature, Osteoporosis, Increased susceptibility to fractures	ORPHA:2788
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Exercise-induced rhabdomyolysis, Parakeratosis, Psoriasiform lesio...	ORPHA:284426
Argininosuccinic Aciduria	Hepatomegaly, Dry hair, Brittle hair, Failure to thrive, Elevated circulating aspartate aminotran...	OMIM:207900
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey...	OMIM:601952
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Increased bone mineral density, Short stature, Splenomegaly, Abnormal cortical bone...	ORPHA:2204
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis	OMIM:605479
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Joint laxity, El...	OMIM:615673
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Joint hyperflexibility, Lower limb hypertonia, Upper limb hypertonia, Hypertrichosis	OMIM:614898
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Gapo Syndrome	Alopecia, Sparse eyelashes, Prematurely aged appearance, Short stature, Sparse eyebrow, Early bal...	ORPHA:2067
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Liver abscess, Abnormal fingernail morphology, Cigarette-p...	ORPHA:678
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Urtica...	ORPHA:37748
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Inguinal hernia, Contracture of the proximal interphalangeal joint of the 2nd finger, Hypospadias...	OMIM:300998
Systemic Sclerosis	Alopecia, Renal insufficiency, Proteinuria, Elevated circulating creatine kinase concentration, N...	ORPHA:90291
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Short stature, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossific...	OMIM:300554
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Hyperphosphaturia, Abnormality of renal excretion, Renal hyp...	ORPHA:289176
Pontocerebellar Hypoplasia, Type 2E	Short stature, Flexion contracture, Osteoporosis, Scoliosis, Facial telangiectasia, Failure to th...	OMIM:615851
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Small for gestational age, Alopecia totalis, Elevated circulating creatine kinase concentration, ...	OMIM:618775
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Inguinal hernia, Short stature, Craniosynostosis, Absent eyelashes, Ren...	ORPHA:166035
Felty Syndrome	Hepatomegaly, Splenomegaly, Cellulitis, Limitation of joint mobility, Osteolysis, Synovitis, Lymp...	ORPHA:47612
Estrogen Resistance Syndrome	Osteopenia, Abnormality of the pubic hair, Enlarged polycystic ovaries, Delayed epiphyseal ossifi...	ORPHA:785
Isolated Thyroid-Stimulating Hormone Deficiency	Failure to thrive, Delayed proximal femoral epiphyseal ossification, Dry skin, Growth delay, Macr...	ORPHA:90674
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Proteinu...	OMIM:256550
Hypodontia-Dysplasia Of Nails Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,...	ORPHA:2228
Multiple Endocrine Neoplasia Type 2	Reduced subcutaneous adipose tissue, Joint laxity, Elevated urinary catecholamine level, Hypercal...	ORPHA:653
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Osteolysis, Weight loss, Lymphadenopathy, Hyperhidrosis, Bone marrow ...	ORPHA:391
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Paronychia, Abnormal blood ion concentration, Renal cyst, Ureterocele, Abnorm...	ORPHA:79404
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Redundant neck skin, Rhizomelia, Short neck, Weight loss, Joint hyperflexibility, S...	ORPHA:1842
Glycogen Storage Disease Ixb	Hepatomegaly, Short stature, Splenomegaly, Increased muscle glycogen content, Growth delay, Hyper...	OMIM:261750
Hall-Riggs Syndrome	Slow-growing hair, Thick hair, Abnormal dental enamel morphology, Joint stiffness, Short stature,...	ORPHA:2107
Pediatric Systemic Lupus Erythematosus	Dark urine, Alopecia, Renal insufficiency, Proteinuria, Myositis, Lymphadenopathy, Hematuria, Leu...	ORPHA:93552
Familial Cold Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Lymphadenopath...	OMIM:611762
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Cerebellar atrophy, Broad-based gait, Brittle hair, Small for gestational age, Failure to thrive ...	OMIM:618891
Lipodystrophy, Familial Partial, Type 2	Reduced subcutaneous adipose tissue, Decreased HDL cholesterol concentration, Hepatomegaly, Hyper...	OMIM:151660
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Abnormal ...	ORPHA:2635
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Flexion contracture, Corneal scarring, Growth delay, Atrophic scars, Nail dystrophy, Na...	OMIM:226600
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Hypopigmentation of hair, Short stature, Splenomegaly, Growth delay, Osteopetrosis,...	OMIM:618541
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Generalized amin...	OMIM:264700
Recon Progeroid Syndrome	Joint laxity, Skeletal muscle atrophy, Short stature, Progeroid facial appearance, Hyperconvex th...	OMIM:620370
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss, Hepatomegaly, Palmoplantar keratoderma, Ascites	ORPHA:2198
Down Syndrome	Joint laxity, Prematurely aged appearance, Short neck, Abnormality of the lymphatic system, Obesi...	ORPHA:870
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Ventral hernia, Alopecia, Hypertriglyceridemia, Thoracic scoliosis, Redundant skin, S...	ORPHA:536532
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Autoimmune hemolytic anemia, Pyoderma gangrenosum, Thrombocytopenia	OMIM:616576
Gapo Syndrome	Hepatomegaly, Alopecia, Prominent scalp veins, Sparse eyelashes, Redundant skin, Facial palsy, Sp...	OMIM:230740
Kid Syndrome	Recurrent cutaneous abscess formation, Sparse eyelashes, Progeroid facial appearance, Sparse eyeb...	ORPHA:477
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Hypoplasia of penis, Slow-growing hair, Short stature, Short neck, Abnormal hair morphology, Kyph...	ORPHA:3082
Spondyloepiphyseal Dysplasia Congenita	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow movement, Short nec...	ORPHA:94068
Short Stature, Microcephaly, And Endocrine Dysfunction	Abnormal circulating lipid concentration, Inguinal hernia, Short stature, Unilateral renal agenes...	OMIM:616541
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Curly hair, Reduced cerebral white matter volume, Sparse eyebrow, Synophrys, Lateral ventricle di...	OMIM:620075
Reticular Dysgenesis	Abnormality of neutrophils, Skin ulcer, Weight loss, Leukopenia, Failure to thrive, Aplasia/Hypop...	ORPHA:33355
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio...	OMIM:614887
Copper Deficiency, Familial Benign	Curly hair, Decreased circulating copper concentration, Early balding, Failure to thrive, Anemia	OMIM:121270
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Facial hypotonia, Elevated circulating creatine kinase concentration, Glycogen accu...	ORPHA:365
Eosinophilic Fasciitis	Myositis, Abnormal eosinophil morphology, Fasciitis, Eosinophilia, Weight loss, Arthritis, Cellul...	ORPHA:3165
Hemifacial Atrophy, Progressive	Patchy alopecia, Ataxia, Poliosis	OMIM:141300
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618840
Peeling Skin Syndrome 1	Brittle hair, Short stature, Eosinophilia, Onycholysis, Nail dystrophy, Scaling skin, Palmoplanta...	OMIM:270300
Noonan Syndrome 6	Juvenile myelomonocytic leukemia, Curly hair, Short stature, Long eyebrows, Short neck, Low poste...	OMIM:613224
Koolen-De Vries Syndrome	Vertebral fusion, Hypopigmentation of hair, Ureteral duplication, Hypospadias, Abnormal dental en...	ORPHA:96169
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Failure to thrive, Slow-growing hair, Hypohidrosis, Hyperkeratosis, Aplas...	ORPHA:238468
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Lumbar hypertrichosis, Hypospadias, Abnormal hair whorl, S...	ORPHA:163956
Brittle Cornea Syndrome	Osteoporosis, Abnormality of hair pigmentation, Corneal scarring, Increased susceptibility to fra...	ORPHA:90354
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Short stature, Skin ulcer, Fine hair, Hypohidrosis, Hyperkeratosi...	ORPHA:1806
Hyperzincemia With Functional Zinc Depletion	Increased serum zinc, Osteoporosis, Hepatomegaly	OMIM:601979
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Increased susceptibility to fractur...	OMIM:612287
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Chilblain Lupus	Hyperkeratosis, Cutis marmorata, Skin ulcer, Chronic myelomonocytic leukemia	ORPHA:90280
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Hyperuricemia, Pallor, H...	ORPHA:348
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Hypopigmentation of hair, Short stature, Kyphosis, Flexion contracture, Osteoporosis,...	ORPHA:398069
Spondyloepimetaphyseal Dysplasia, Irapa Type	Osteoarthritis, Limitation of joint mobility, Osteoporosis, Platyspondyly, Disproportionate short...	ORPHA:93351
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Ichthyosis, Congenital, Autosomal Recessive 14	Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbullous icht...	OMIM:617571
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Hyperphosphaturia, Osteoporosis, Hypercalciuria, Nephrolithiasis, Increased susceptib...	OMIM:612286
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Failure to thrive in infancy, Dysplast...	ORPHA:488627
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hepatomegaly, Renal insufficiency, Short stature, Hyperlordosis, Hypoplasia of the odontoid proce...	OMIM:226980
19P13.12 Microdeletion Syndrome	Hypospadias, Craniosynostosis, Short neck, Kyphosis, Hyperlipidemia, Synophrys, Obesity, Scoliosi...	ORPHA:254346
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Decreased muscle mass, Short stature, Recurrent fracture...	OMIM:309583
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Hurler Syndrome	Short neck, Flexion contracture, Hernia, Hepatomegaly, Short stature, Hypoplasia of the odontoid ...	OMIM:607014
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hepatomegaly, Telangiectasia of the skin, Telangiectasia, Hyperkeratosis, Generalized amyotrophy	ORPHA:79279
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Lumbar hyperlordosis, Camptodactyly of finger, Knee osteoarthritis, Osteoporosis, Bone cyst, Camp...	ORPHA:2848
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Elevated...	OMIM:619685
Chromosome Xq27.3-Q28 Duplication Syndrome	Increased circulating gonadotropin level, Small for gestational age, Sparse body hair, Abdominal ...	OMIM:300869
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Exercise-ind...	OMIM:607155
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Synophrys, Scoliosis, Hypertrichosis	ORPHA:85317
Mucopolysaccharidosis, Type Iiid	Hepatomegaly, Thick eyebrow, Thoracic scoliosis, Pilonidal sinus, Inguinal hernia, Short stature,...	OMIM:252940
Dworschak-Punetha Neurodevelopmental Syndrome	Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Sparse later...	OMIM:619955
Hypocalcemic Vitamin D-Dependent Rickets	Thin bony cortex, Short stature, Osteomalacia, Postnatal growth retardation, Delayed epiphyseal o...	ORPHA:289157
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Short stature, Unilateral renal agenesis, Acute leukemia, Hypohidrosis, Hype...	ORPHA:281090
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Cutis marmorata, Short stature, Cachexia, Telangiectasia, Myopathy, Join...	ORPHA:109
Bazex-Dupre-Christol Syndrome	Joint hypermobility, Hypohidrosis, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trich...	OMIM:301845
Atrophoderma Vermiculata	Atrophic scars, Erythema, Hyperkeratotic papule, Follicular hyperkeratosis	ORPHA:79100
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Severe short stature, Facial palsy, Absent eyelashes, Hypohidrosis, Spa...	ORPHA:2316
Hereditary Bullous Dystrophy, Macular Type	Nail dystrophy, Alopecia, Congenital abnormal hair pattern, Atrichia	ORPHA:1867
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Failure to thrive, Perianal erythema, Short stature, Splenomegaly, Paronychia, Dry ...	OMIM:201100
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Hyperammonemia, Failure to thrive, Anemia	ORPHA:28
Ovarian Dysgenesis 1	Osteoporosis	OMIM:233300
Dent Disease 1	Delayed epiphyseal ossification, Nephrocalcinosis, Aminoaciduria, Low-molecular-weight proteinuri...	OMIM:300009
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Osteopenia, Pancytopenia, Portal hypertension, Retinal telangiectasia, Premature graying of hair,...	OMIM:617341
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C...	ORPHA:54251
2Q32Q33 Microdeletion Syndrome	Short stature, Fine hair, Growth delay, Joint hyperflexibility, Sparse hair	ORPHA:251019
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaund...	OMIM:608885
Cdkl5-Deficiency Disorder	Growth delay, Kyphosis, Synophrys, Scoliosis	ORPHA:505652
Autosomal Dominant Spastic Paraplegia Type 29	Hernia, Hyperbilirubinemia, Hiatus hernia	ORPHA:101009
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Proximal muscle weakness in upper lim...	ORPHA:435660
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Familial Isolated Hyperparathyroidism	Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinos...	ORPHA:99879
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Inguinal hernia, Hypoglycinemia, Short stature, Megaloblastic anemia, Abnormality of hair texture...	ORPHA:79351
Dpagt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Thickened skin, Flexion contracture, ...	ORPHA:86309
Ck Syndrome	Hyperlordosis, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Slender build, Joint hyper...	OMIM:300831
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Neurogenic bladder, Diastasis recti, Short neck, Synophrys, Hirsutism, O...	ORPHA:488632
Rett Syndrome	Skeletal muscle atrophy, Short stature, Cachexia, Kyphosis, Scoliosis	OMIM:312750
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Hepatomegaly, Anhidrosis, Facial hypotonia, Elevated circulating a...	OMIM:615273
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Hypoplasia of penis, Short stature, Short neck, Hemivertebrae, Obesity, Abnorm...	ORPHA:2234
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Arthritis, Increased se...	OMIM:602390
Senior-Boichis Syndrome	Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con...	ORPHA:84081
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Facial palsy, Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia	OMIM:615085
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Redundant skin, Erythema, Osteoporosis, Limitation of joint mobility, Palmoplantar hy...	OMIM:259100
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Elevated ...	ORPHA:829
Kury-Isidor Syndrome	Sacral dimple, Alopecia, Short neck, Growth delay, Scoliosis, Hydronephrosis, Hypertrichosis	OMIM:619762
Hereditary Renal Hypouricemia	Back pain, Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild...	ORPHA:94088
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Inguinal hernia, Severe short stature, Short stature, Short neck, Heparan sulfate e...	OMIM:309900
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Failure to thrive, Short stature, Paronychia,...	ORPHA:37
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Anisocytosis, Cardiomegaly, M...	OMIM:618278
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, Short neck, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita	OMIM:618393
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Sparse eyelashes, Trichiasis, Sparse eyebrow, Elbow flexion contracture, Corneal scarring, Absent...	OMIM:148210
Cushing Syndrome Due To Ectopic Acth Secretion	Plethora, Pancreatoblastoma, Neoplasm of the thymus, Increased body weight, Ecchymosis, Flushing,...	ORPHA:99889
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Failure to thrive, Short neck, Thrombocytopenia, Elevated circulating creatinine co...	OMIM:608104
Hereditary Sensory And Autonomic Neuropathy Type 1	Osteomyelitis, Poor wound healing, Penetrating foot ulcers, Skin ulcer, Hyperkeratosis, Distal am...	ORPHA:36386
Fanconi Anemia, Complementation Group S	Ataxia, Microcephaly, Low anterior hairline, Long eyelashes, Sparse hair, Failure to thrive	OMIM:617883
Typical Nemaline Myopathy	Elevated circulating creatine kinase concentration, Facial palsy, Hyperlordosis, Short neck, Kyph...	ORPHA:171436
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Pallor, Increased total bilirubin	ORPHA:90036
Gand Syndrome	Sparse hair	OMIM:615074
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Reduced su...	OMIM:608594
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Palmoplantar kerat...	OMIM:308800
15Q24 Microdeletion Syndrome	Joint laxity, Hypospadias, Small for gestational age, Congenital diaphragmatic hernia, Short stat...	ORPHA:94065
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Short stature, Kyphosis, Obesity, Scoliosis	OMIM:616756
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Ureteral stenosis, Hydroureter, Large for gestational age, Osteoporosis, Hypercalciur...	OMIM:615398
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Inguinal hernia, Redundant neck skin, Short neck, Postnatal growth retardation, Spl...	ORPHA:1655
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Small for gestational age, Short neck, Thrombocytopenia, Micronodular...	OMIM:606003
Premature Aging Syndrome, Okamoto Type	Abnormal hair morphology, Osteoporosis	OMIM:601811
Cranioectodermal Dysplasia 3	Joint laxity, Short stature, Short nail, Sagittal craniosynostosis, Rhizomelia, Broad nail, Stage...	OMIM:614099
Borjeson-Forssman-Lehmann Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Short stature, Truncal obesity, Joint hyperflexibil...	ORPHA:127
Tay-Sachs Disease	Cerebellar atrophy, Short attention span, Hypointensity of cerebral white matter on MRI, Inabilit...	ORPHA:845
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Short stature, Scoliosis, Sparse hair, Sparse lateral eyebrow	OMIM:190351
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Short stature, Widow's peak, Reduction of neutrophil motility, Cellulitis	OMIM:266265
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Recurrent fractures, Craniosynostosis, Abnormality of hair texture, Splenomegaly, L...	ORPHA:667
Prolidase Deficiency	Hepatomegaly, Petechiae, Elevated circulating aspartate aminotransferase concentration, Hyperimid...	OMIM:170100
Trisomy 20P	Short neck, Low anterior hairline, Abnormal form of the vertebral bodies, Reduced bone mineral de...	ORPHA:261318
Wieacker-Wolff Syndrome	Short stature, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, D...	OMIM:314580
Focal Myositis	Myositis, Limitation of joint mobility, Elevated circulating creatine kinase concentration, Weigh...	ORPHA:48918
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Failure to thrive, Short stature, Facial myokymia	OMIM:620007
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Severe short stature, Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis	OMIM:126550
Biotinidase Deficiency	Hepatomegaly, Alopecia, Splenomegaly, Hyperammonemia, Organic aciduria	OMIM:253260
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Myelofibrosis, Curly hair, Sparse scalp hair, Joint laxity, Inguinal hernia, Short stature, Short...	OMIM:607721
Mednik Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, In...	ORPHA:171851
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79322
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Recurrent fractures, Joint hypermobility, Long eyelashes, Biconca...	OMIM:617952
Borjeson-Forssman-Lehmann Syndrome	Short stature, Kyphosis, Obesity, Scoliosis, Delayed puberty, Micropenis, Scheuermann-like verteb...	OMIM:301900
Revesz Syndrome	Cerebral calcification, Ataxia, Progressive neurologic deterioration, Nail pits, Fine hair, Nail ...	OMIM:268130
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Joint laxity, Short stature, Hyperconvex nail, Scoliosis, Sparse hair, Thoracic hemivertebrae, Fa...	OMIM:619721
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Hypopigmentation of hair, Osteoporosis, Obesity, Abdominal obesity, Scoliosis, Microp...	ORPHA:398079
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Short stature, Short neck, Kyphosis, Biliary tract abnormality, Obesity, Scolios...	ORPHA:3191
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Reduced su...	OMIM:269700
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Decreased retinol-binding protein level, Follicular hyperkeratosis	OMIM:615147
Galactosemia I	Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:230400
Oculopharyngodistal Myopathy	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis...	ORPHA:98897
Multiple Sulfatase Deficiency	Hepatomegaly, Short stature, Joint stiffness, Splenomegaly, Coarse hair, Mucopolysacchariduria, I...	ORPHA:585
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Facial palsy, ...	ORPHA:254892
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio...	OMIM:212140
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy, Arthritis	ORPHA:42642
Acrofacial Dysostosis, Palagonia Type	Sparse eyelashes, Short stature, Short neck, Low anterior hairline, Abnormal form of the vertebra...	ORPHA:1787
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Failure to thrive, L...	ORPHA:3008
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Osteoporosis, Scoliosis, Tracheomalacia, Beaking of vert...	ORPHA:536467
Trichohepatoneurodevelopmental Syndrome	Joint laxity, Hepatomegaly, Curly hair, Decreased body weight, Splenomegaly, Synophrys, Woolly ha...	OMIM:618268
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis	ORPHA:66661
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Short stature, Autoimmune thro...	ORPHA:77293
Familial Cold Autoinflammatory Syndrome 1	Elevated circulating C-reactive protein concentration, Leukocytosis, Urticaria, Arthritis, Renal ...	OMIM:120100
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Lymphatic Malformation 4	Hyperkeratosis, Prominent superficial veins, Toenail dysplasia, Cellulitis	OMIM:615907
Chromosome 5P13 Duplication Syndrome	Small for gestational age, Craniosynostosis, Vesicoureteral reflux, Low posterior hairline, Scoli...	OMIM:613174
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology, Aplasia/Hypoplasia of the corpus callosum, Cerebellar h...	ORPHA:1647
Hip Dysplasia, Beukes Type	Kyphosis, Osteoarthritis, Abnormal ossification involving the femoral head and neck, Abnormality ...	ORPHA:2114
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hyperextensibility of the finger joints, Hypospadias, Short stature, Thromboc...	ORPHA:163979
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agene...	OMIM:619103
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, C...	ORPHA:370022
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Abnormal fingernail morphology, Enamel hypoplasia, Atypical scarring of skin, Growth delay, Anony...	ORPHA:79410
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Elevated hepatic transaminase, Short stature, Acanthosis nigricans, Sparse hair, Dry skin	OMIM:268020
Arthrogryposis, Distal, Type 4	Osteopenia, Torticollis, Kyphosis, Low anterior hairline, Low posterior hairline, Camptodactyly o...	OMIM:609128
Osteootohepatoenteric Syndrome	Proteinuria, Recurrent fractures, Microvesicular hepatic steatosis, Grade II vesicoureteral reflu...	OMIM:619377
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Hypercalciuria, Reduced bone mineral density, Nephrocal...	ORPHA:428
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short stature, Cachexia	ORPHA:1389
Thanatophoric Dysplasia Type 1	Redundant skin, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Excessive wrinkl...	ORPHA:1860
Encephalocraniocutaneous Lipomatosis	Alopecia, Cortical dysplasia, Porencephalic cyst, Cerebellar hypoplasia, Hypoplasia of the corpus...	OMIM:613001
Trichothiodystrophy 8, Nonphotosensitive	Sparse eyebrow, Cutis laxa, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:619691
Orthostatic Hypotension 1	Nocturia, Increased blood urea nitrogen, Hypomagnesemia, Weakness of facial musculature, Joint hy...	OMIM:223360
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Inguinal hernia, Poor wound healing, Kyphoscoliosis, Osteoporosis, Exce...	OMIM:225400
Cardiofaciocutaneous Syndrome 2	Sparse hair, Curly hair, Absent eyebrow, Fine hair	OMIM:615278
Ablepharon-Macrostomia Syndrome	Ventral hernia, Absent eyebrow, Omphalocele, Redundant skin, Absent eyelashes, Micropenis, Hypopl...	OMIM:200110
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Inguinal hernia, Redundant neck skin, Short neck, Thyroid lymphangiectasia, Splenom...	OMIM:235255
Dowling-Degos Disease	Abnormal fingernail morphology, Penile freckling, Hyperkeratosis, Arthritis, Skin vesicle, Hyperk...	ORPHA:79145
Focal Dermal Hypoplasia	Acute hepatic failure, Omphalocele, Alopecia, Multicystic kidney dysplasia, Telangiectasia of the...	ORPHA:2092
Paroxysmal Nocturnal Hemoglobinuria	Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti...	ORPHA:447
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Craniofacial hyperostosis, Short stature, Facial pa...	ORPHA:3068
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Microcephaly 26, Primary, Autosomal Dominant	Microcephaly, Pachygyria, Dysplastic corpus callosum, Prominent eyelashes, Simplified gyral patte...	OMIM:619179
Osteogenesis Imperfecta, Type Xxii	Short stature, Recurrent fractures, Abnormal circulating calcium concentration, Multiple prenatal...	OMIM:619795
Chromosome 19Q13.11 Deletion Syndrome, Distal	Reduced subcutaneous adipose tissue, Failure to thrive, Inguinal hernia, Sparse eyelashes, Hyposp...	OMIM:613026
Scarf Syndrome	Inguinal hernia, Diastasis recti, Short neck, Low anterior hairline, Abnormal form of the vertebr...	OMIM:312830
Difference Of Sex Development-Intellectual Disability Syndrome	Hypoplasia of penis, Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Low posterior hairli...	ORPHA:2983
Pelger-Huet Anomaly	Foot dorsiflexor weakness, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil n...	OMIM:169400
Metatropic Dysplasia	Relatively short spine, Severe short stature, Kyphoscoliosis, Abnormal enchondral ossification, H...	OMIM:156530
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Cerebellar atrophy, Basal ganglia calcification, Patchy alopecia, Cerebellar hypoplasia, Sparse h...	OMIM:617763
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Petechiae, Increased circulati...	ORPHA:540
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Lymphangioma, Excessive wrinkled skin, Recurrent fractures, Reduced bone mineral density	ORPHA:137608
Mucoepithelial Dysplasia, Hereditary	Alopecia, Eosinophilia, Hematuria, Coarse hair, Nail dystrophy, Follicular hyperkeratosis, Nail d...	OMIM:158310
Hemochromatosis, Type 4	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Oste...	OMIM:606069
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Joint laxity, Sparse scalp hair, Severe short stature, Short nail, Kyphoscoliosis, Short neck, Ov...	OMIM:271640
Functioning Gonadotropic Adenoma	Osteopenia, Enlarged polycystic ovaries, Osteoporosis, Abnormality of secondary sexual hair, Dela...	ORPHA:91348
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse hair, Abnormal fingernail morphology, Sparse body hair, Hypohidrosis	ORPHA:1810
Peeling Skin Syndrome 4	Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Ichthyosis, Orthokeratosis	OMIM:607936
Dent Disease	Elevated circulating creatine kinase concentration, Delayed epiphyseal ossification, Nephrocalcin...	ORPHA:1652
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hepatomegaly, Hyperextensibility of the finger joints, Sp...	OMIM:228000
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Short neck, Kyphosis, Facial diplegia, Scoliosis, Arthrogryposis multipl...	OMIM:611890
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Curly hair, Short stature, Curly eyelashes, Short neck, Multiple rows of eyelashes, Cuboid-shaped...	ORPHA:163654
Monosomy 22	Aplasia of the thymus, Short neck, Thickened skin, Synophrys, Hypochromic microcytic anemia, Hepa...	ORPHA:96123
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Renal insufficiency, Thrombocytopenia, Hyperammonemia, Renal tubular dysfunction, G...	ORPHA:289916
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum, Small for gestational age	OMIM:620135
19P13.3 Microduplication Syndrome	Growth delay, Intrauterine growth retardation, Osteoporosis, Kyphoscoliosis	ORPHA:447980
Lelis Syndrome	Yellow nails, Acanthosis nigricans, Absent lower eyelashes, Palmoplantar hyperkeratosis, Hypohidr...	ORPHA:140936
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Elevated circulating creatine kinase concentration, Facial palsy,...	OMIM:615084
Congenital Disorder Of Glycosylation, Type If	Flexion contracture, Dry skin, Renal cortical cysts, Hyperkeratosis, Scaling skin, Failure to thrive	OMIM:609180
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Flexion contracture of finger, Sparse eyelashes, ...	ORPHA:1010
Intellectual Disability, Buenos-Aires Type	Abnormal fingernail morphology, Short stature, Hyperconvex thumb nails, Fine hair, Reduced bone m...	ORPHA:3079
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalon...	OMIM:251000
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Abnormal basal ganglia MRI signal intensity, Secondary microcephaly, Abnormal...	ORPHA:485421
Distal Xq28 Microduplication Syndrome	Short stature, Neonatal hyperbilirubinemia, Aplasia/Hypoplasia of the eyebrow	ORPHA:293939
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Short stature, Short neck, Conjugated hyperbilirubinemia, Postnatal...	ORPHA:168577
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hyperbilirubinemia,...	ORPHA:542323
Irida Syndrome	Decreased circulating copper concentration, Intrahepatic cholestasis, Hyperkeratosis, Pallor, Ich...	ORPHA:209981
Immunodeficiency 12	Short stature, Abnormal lymphocyte count, Osteoporosis, Growth delay, Decreased body weight	OMIM:615468
Tuberculosis	Weight loss	ORPHA:3389
Monosomy 18P	Alopecia, Short stature, Kyphoscoliosis, Short neck, Low posterior hairline	ORPHA:1598
Rhabdoid Tumor	Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Hematuria, Weight loss, Thrombocyt...	ORPHA:69077
Cystinosis, Nephropathic	Skeletal muscle atrophy, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria,...	OMIM:219800
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased urine alpha-ketoglutarate concentration, F...	ORPHA:2394
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Prominent superficial veins, Telangiectasia of the skin, Thi...	ORPHA:75508
46,Xy Sex Reversal 4	Distal symphalangism, Elevated circulating creatinine concentration, Increased blood urea nitroge...	OMIM:154230
Mucolipidosis Iii Gamma	Short stature, Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, Joint st...	OMIM:252605
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Secondary microcephaly, Cerebellar hypopl...	OMIM:619306
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Short stature, Leukocytosis, Flexion contracture, Renal hypoplasia, Abdominal obesity, ...	OMIM:619321
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ...	OMIM:618641
Cleidocranial Dysplasia	Short stature, Recurrent fractures, Abnormal dental enamel morphology, Abnormal sacrum morphology...	ORPHA:1452
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno...	ORPHA:83451
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Cardiomegaly, Absent eyelashes, Acantholysis, Absent toenail, Absent fingernail, ...	ORPHA:158687
Pycnodysostosis	Ridged nail, Joint laxity, Increased bone mineral density, Rhizomelia, Hyperlordosis, Overweight,...	ORPHA:763
Erythrokeratodermia Variabilis Et Progressiva 3	Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:617525
Galactose Mutarotase Deficiency	Hepatomegaly, Cholestasis, Hypergalactosemia, Decreased liver function, Failure to thrive	ORPHA:570422
Sialuria	Hepatomegaly, Inguinal hernia, Splenomegaly, Synophrys, Low posterior hairline, Macroglossia, Hyp...	OMIM:269921
Tonne-Kalscheuer Syndrome	Hypospadias, Short stature, Congenital diaphragmatic hernia, Concave nail, Fine hair, Growth dela...	OMIM:300978
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d...	ORPHA:978
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Kyphosis, Decr...	OMIM:259420
Lipoid Proteinosis	Hyperkeratosis, Alopecia of scalp, Scarring, Thickened skin	ORPHA:530
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Alopecia, Abnormal dental enamel morphology, Hyperconvex fingernails, Myopathy, Skin vesicle, Hyp...	ORPHA:257
Recessive X-Linked Ichthyosis	Hyperkeratosis, Hypohidrosis, Dry skin, Ichthyosis	ORPHA:461
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Calvarial hype...	OMIM:612714
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Jaundice...	OMIM:229600
Mogs-Cdg	Hepatomegaly, Alopecia, Thoracic scoliosis, Cardiomegaly, Hirsutism, Hepatosplenomegaly, Long eye...	ORPHA:79330
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Delayed proximal femoral epiphyseal ossification, Macr...	ORPHA:90673
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Sparse scalp hair, Failure to thrive, Anhidrosis, Anhidrotic ectodermal dysplasia, ...	OMIM:612132
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Sparse eyebrow, Dysplastic corpus callosum, Brittle hair, Cerebellar hypoplasia	OMIM:618810
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp...	OMIM:609813
Wolf-Hirschhorn Syndrome	Sacral dimple, Hypospadias, Highly arched eyebrow, Congenital diaphragmatic hernia, Kyphosis, Abn...	ORPHA:280
Holocarboxylase Synthetase Deficiency	Alopecia, Hyperammonemia, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hyd...	OMIM:253270
Giant Cell Arteritis	Alopecia, Renal insufficiency, Joint stiffness, Mediastinal lymphadenopathy, Skin ulcer, Weight l...	ORPHA:397
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia...	OMIM:602450
Noonan Syndrome 2	Curly hair, Short stature, Short neck, Sparse eyebrow, Low posterior hairline, Hyperkeratosis, Pa...	OMIM:605275
Amish Lethal Microcephaly	Hepatomegaly, Limitation of joint mobility, Osteoporosis, Organic aciduria, Decreased skull ossif...	ORPHA:99742
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Cole Disease	Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ...	OMIM:615522
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Osteoporosis, Delayed puberty	OMIM:615270
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Poor wound healing, Cachexia, Abnormality of the spleen, Thrombocytopenia, Splenome...	ORPHA:2072
Alveolar Echinococcosis	Low back pain, Liver abscess, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Panc...	ORPHA:284
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Short stature, Recurrent fractures, Osteoporosis, Obesity, Reduced bone mineral density, Delayed ...	ORPHA:2235
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot...	OMIM:615960
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Failure to thrive, Small for gestational age, Short stature, Abn...	OMIM:610443
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Osteomyelitis, Short stature, Elevated circulating C-reactive protein concentration...	OMIM:619423
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Elevated circulating creatine kinase concentration, Spinal rigidi...	ORPHA:352447
Schaaf-Yang Syndrome	Failure to thrive in infancy, Short stature, Kyphosis, Flexion contracture, Obesity, Scoliosis, C...	OMIM:615547
Marfan Syndrome	Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Arthralgia/arthritis, Joint hypermobility, ...	ORPHA:558
Myopathy, Centronuclear, 2	Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Kyphos...	OMIM:255200
Insulin Autoimmune Syndrome	Acanthosis nigricans, Arthralgia/arthritis, Weight loss	ORPHA:411593
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis, Failure to thrive, Upper limb hypertonia, Joint hyperflexibility	ORPHA:319199
Trisomy 18	Omphalocele, Short stature, Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia, G...	ORPHA:3380
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Osteopenia, Kyphosis, Osteoporosis, Truncal obesity, Bruising s...	OMIM:610489
Glass Syndrome	Inguinal hernia, Facial hypotonia, Short stature, Long eyelashes, Nail dysplasia, Camptodactyly, ...	OMIM:612313
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Petechiae, Splenomegaly, Leukocytosis, Hepatosplenome...	OMIM:612840
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Distal 16P11.2 Microdeletion Syndrome	Proteinuria, Kyphosis, Chronic kidney disease, Low anterior hairline, Obesity, Hyperuricemia, Ves...	ORPHA:261222
Vulto-Van Silfhout-De Vries Syndrome	Joint laxity, Sacral dimple, Widow's peak, Fine hair, Horizontal eyebrow	OMIM:615828
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Synophrys, Abnormal curvature of the vertebral column, Micropenis, Hepatic steatosis, ...	OMIM:619475
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hyperconvex fingernails, Sparse hair, Abnormal vertebral morphology, Abnormality of the nail, Abs...	ORPHA:2273
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Short stature, Obesity, Scoliosis	ORPHA:276630
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Proteinuria, Kyphosis, Abnormal subcutan...	OMIM:212065
Shwachman-Diamond Syndrome	Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, P...	ORPHA:811
Fryns-Smeets-Thiry Syndrome	Cachexia, Short stature, Scoliosis, Joint hyperflexibility	ORPHA:2058
Rhizomelic Syndrome, Urbach Type	Abnormal hair quantity, Short stature, Rhizomelia, Short neck, Kyphosis, Limitation of joint mobi...	ORPHA:3098
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Decreased muscle mass, Short stature, Recurrent fractures, Kyphoscoliosis, Osteopor...	OMIM:616507
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair	ORPHA:1006
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Intrahepatic bile d...	OMIM:619534
Ectodermal Dysplasia/Short Stature Syndrome	Short stature, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Enamel hypoplasia, Anony...	OMIM:616029
Muckle-Wells Syndrome	Renal insufficiency, Short stature, Elevated circulating C-reactive protein concentration, Leukoc...	OMIM:191900
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Kyphosis, Frontal upsweep of hair, Scoliosis, Hydronephr...	OMIM:619797
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Short stature, Hyperlordosis, Kyphosis, Obesity, Acanthosis nigricans, Keloids, Dry skin	ORPHA:3085
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Cachexia, Ragged-red muscle fibers, Weight loss,...	OMIM:603041
Alg1-Cdg	Renal insufficiency, Kyphosis, Limitation of joint mobility, Nephrotic syndrome, Hypoalbuminemia,...	ORPHA:79327
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria, Short stature, C...	OMIM:208500
Mitchell-Riley Syndrome	Absent gallbladder, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyperbilirubinemia, In...	OMIM:615710
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Hypopigmentation of hair, Small for gestational age, Short stature, Osteoporosis, Obe...	ORPHA:98754
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa...	ORPHA:75234
Yellow Fever	Low back pain, Acute pancreatitis, Neutrophilia, Anuria, Elevated circulating aspartate aminotran...	ORPHA:99829
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Abnormal trabecular bone morphology, Splenomegaly, Growth delay, Hypocalcemic seizu...	OMIM:612301
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphaden...	ORPHA:29073
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Micropenis, Osteoporosis, Obesity	OMIM:610628
Singleton-Merten Syndrome 2	Osteopenia, Psoriasiform lesion, Short stature, Osteolytic defects of the phalanges of the hand, ...	OMIM:616298
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile...	ORPHA:562639
Noonan Syndrome 7	Curly hair, Short stature, Large for gestational age, Short neck, Low posterior hairline, Hyperhi...	OMIM:613706
Trichorhinophalangeal Syndrome Type 1	Sparse eyelashes, Camptodactyly of finger, Short stature, Hyperlordosis, Sparse eyebrow, Leukonyc...	ORPHA:77258
Noonan Syndrome 4	Curly hair, Ureteral duplication, Short stature, Short neck, Sparse eyebrow, Large for gestationa...	OMIM:610733
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Elevated circulating alanine amino...	OMIM:618805
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Hypohidrosis, Nai...	OMIM:617337
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Membranoproliferative glomerulone...	OMIM:619525
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase conc...	OMIM:614034
Chronic Mucocutaneous Candidiasis	Abnormal fingernail morphology, Abnormal dental enamel morphology, Erythema, Hepatitis, Broad nai...	ORPHA:1334
Panhypophysitis	Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz...	ORPHA:95513
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Abnormal form of the vertebra...	ORPHA:666
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Abnormal ...	ORPHA:536471
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Macrocytic anemia, Alopecia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosi...	ORPHA:227990
Ectodermal Dysplasia 13, Hair/Tooth Type	Brittle hair, Sparse eyelashes, Low anterior hairline, Ectodermal dysplasia, Thin eyebrow	OMIM:617392
Chromomycosis	Ankylosis, Hyperparakeratosis, Vascular skin abnormality, Osteolysis, Atypical scarring of skin, ...	ORPHA:182
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Hypopigmentation of hair, Small for gestational age, Short stature, Osteoporosis, Obe...	ORPHA:98793
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures	ORPHA:85193
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Osteoporosis	ORPHA:529665
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis, Osteomyelitis, Osteolytic defects of the phalanges of the hand	OMIM:615632
Glycerol Kinase Deficiency	Increased urinary glycerol, Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, C...	OMIM:307030
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Joint laxity, Hypospadias, Proteinuria, Glomerulonephritis, Synophrys, Fine hair, Growth delay, N...	OMIM:619428
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Elevated circulating creatinine concentration, Anemia, Increased...	ORPHA:230
Zimmermann-Laband Syndrome	Hepatomegaly, Joint hypermobility, Short neck, Splenomegaly, Growth delay, Macroglossia, Long eye...	ORPHA:3473
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Hypopigmentation of hair, Small for gestational age, Short stature, Osteoporosis, Obe...	ORPHA:177904
Ichthyosis Prematurity Syndrome	Dermatographic urticaria, Alopecia of scalp, Generalized ichthyosis, Follicular hyperkeratosis	OMIM:608649
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, Onycholysis, Sca...	OMIM:616295
Noonan Syndrome 5	Curly hair, Short stature, Short neck, Sparse eyebrow, Large for gestational age, Fine hair, Smal...	OMIM:611553
Ablepharon Macrostomia Syndrome	Omphalocele, Absent eyebrow, Hypoplasia of penis, Redundant skin, Abnormal hair pattern, Camptoda...	ORPHA:920
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Hypopigmentation of hair, Small for gestational age, Short stature, Osteoporosis, Obe...	ORPHA:177901
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Scoliosis	OMIM:615761
Lenz-Majewski Hyperostotic Dwarfism	Redundant skin, Epispadias, Hyperconvex fingernails, Elbow ankylosis, Abnormal penis morphology, ...	ORPHA:2658
Congenital Disorder Of Glycosylation, Type Iia	Osteopenia, Short stature, Thoracolumbar kyphoscoliosis, Short neck, Postnatal growth retardation...	OMIM:212066
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Anhidrosis, Absent eyelashes,...	OMIM:614941
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529808
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Joint laxity, Juvenile myelomonocytic leukemia, Short stature, Highly arched eyebrow, Short neck,...	OMIM:613563
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Microsporidiosis	Brain abscess, Myositis, Osteomyelitis, Cholangitis, Cachexia, Abnormality of the spleen, Periton...	ORPHA:2552
Cryptogenic Organizing Pneumonia	Neutrophilia, Cyanosis, Elevated circulating C-reactive protein concentration, Leukocytosis, Weig...	ORPHA:1302
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Renal insufficiency, Abnormal dental enamel morphology, Thickened skin,...	ORPHA:79430
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Severe short stature, Proportionate short stature, Vesicoureteral reflux...	ORPHA:3208
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Congeni...	ORPHA:85212
Bleeding Disorder, Platelet-Type, 21	Alopecia	OMIM:617443
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Growth delay, Hy...	OMIM:306000
Primrose Syndrome	Skeletal muscle atrophy, Synophrys, Flexion contracture, Knee flexion contracture, Reduced bone m...	OMIM:259050
Osteogenesis Imperfecta, Type Xxi	Recurrent fractures, Osteoporosis, Platyspondyly, Disproportionate short-limb short stature, Scol...	OMIM:619131
Adenohypophysitis	Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz...	ORPHA:95512
Acrokeratoelastoidosis Of Costa	Hypergranulosis, Palmoplantar hyperkeratosis, Granulomatosis, Orthokeratosis, Hyperkeratotic papu...	ORPHA:38
Eem Syndrome	Sparse scalp hair, Absent eyebrow, Sparse body hair	ORPHA:1897
Juvenile Polyposis Of Infancy	Refractory anemia, Short stature, Cachexia, Anemia, Hypoalbuminemia, Subcutaneous lipoma	ORPHA:79076
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Hypoplasia of the pons, Leukoencephalopathy, Cerebellar hypoplasia, Polymic...	OMIM:615181
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Eec Syndrome	Slow-growing hair, Hypospadias, Abnormal dental enamel morphology, Short stature, Sparse eyebrow,...	ORPHA:1896
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Back pain, Abnormal thoracic spine morphology, Torticollis, Elevated ca...	ORPHA:370348
Lateral Meningocele Syndrome	Vertebral fusion, Neurogenic bladder, Decreased muscle mass, Inguinal hernia, Short stature, Shor...	OMIM:130720
Smith-Kingsmore Syndrome	Curly hair, Rhizomelia, Diastasis recti, Large for gestational age, Umbilical hernia, Thrombocyto...	OMIM:616638
Castleman Disease	Myelofibrosis, Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Elevated circula...	ORPHA:160
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Increased circulating thyroglobulin level, Thoracolumbar scoliosis, Por...	OMIM:610199
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615267
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Reduced subcutaneous adipose tissue, Curly hair, Sacral dimple, Prematurely aged appearance, Join...	OMIM:619950
Fanconi-Bickel Syndrome	Osteopenia, Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Failure to thrive, Elevated ci...	ORPHA:2088
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Synophrys, Scoliosis, Hirsutism	OMIM:300861
Autoimmune Polyendocrinopathy Type 2	Alopecia	ORPHA:3143
Spinocerebellar Ataxia-Dysmorphism Syndrome	Short stature, Reduced bone mineral density, Joint hyperflexibility, Coarse hair, Spina bifida oc...	ORPHA:1185
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Renal hamartoma, Osteoporosis, Nep...	ORPHA:143
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Macrocytic anemia, Alopecia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosi...	ORPHA:227982
Cockayne Syndrome Type 2	Hepatomegaly, Scarring, Progeroid facial appearance, Kyphosis, Flexion contracture, Scoliosis, In...	ORPHA:90322
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Joint stiffness, Splenomegaly, Hypoplastic vertebral bodies, Platyspondyly, Sea-blu...	OMIM:230600
Spastic Paraplegia 29, Autosomal Dominant	Urinary incontinence, Hiatus hernia, Urinary hesitancy, Urinary urgency, Neonatal hyperbilirubine...	OMIM:609727
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H...	ORPHA:2070
Frank-Ter Haar Syndrome	Inguinal hernia, Camptodactyly of finger, Joint stiffness, Kyphosis, Thickened skin, Osteolysis, ...	ORPHA:137834
Leopard Syndrome 2	Curly hair, Dry skin, Short stature, Short neck	OMIM:611554
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Foot dorsiflex...	OMIM:214500
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Inguinal hernia, Proteinuria, Glomerulonephritis, Supernumerary nipple, Short statu...	OMIM:614376
Meningioma	Enlarged pituitary gland, Ataxia, Hypothalamic hypothyroidism, Reduced circulating prolactin conc...	ORPHA:2495
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Palmoplantar hyperkeratosis, Skin fragility with non-scarring blistering, Nail dys...	ORPHA:158681
Oculodentodigital Dysplasia	Curly hair, Neurogenic bladder, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, ...	ORPHA:2710
Ramon Syndrome	Short stature, Angiokeratoma, Kyphosis, Telangiectasia, Hyperkeratosis, Scoliosis, Decreased body...	OMIM:266270
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Failure to thrive, Short neck, Kyphosis, Hepatosplenomegaly, Polycystic kidney dysp...	OMIM:608776
Rhyns Syndrome	Osteopenia, Renal insufficiency, Short stature, Chronic kidney disease, Osteoporosis, Nephronopht...	OMIM:602152
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Anhidrosis, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Hypohidrotic ectodermal dysplasia, Pe...	OMIM:224900
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ...	ORPHA:79151
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden...	ORPHA:545
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Congenital muscular dystrophy, Joint hyperflexibility	ORPHA:1875
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Addison Disease	Hyponatremia, Normocytic anemia, Failure to thrive, Hypercalcemia, Sparse axillary hair, Renal sa...	ORPHA:85138
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Generalized ...	OMIM:612281
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Short neck, Hypoplastic toenails, Ectopic kidney, Reduced bone mineral density, Hyper...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Short neck, Hypoplastic toenails, Ectopic kidney, Reduced bone mineral density, Hyper...	ORPHA:99228
Monosomy X	Osteopenia, Short neck, Hypoplastic toenails, Ectopic kidney, Reduced bone mineral density, Hyper...	ORPHA:99226
Turner Syndrome	Osteopenia, Short neck, Hypoplastic toenails, Ectopic kidney, Reduced bone mineral density, Hyper...	ORPHA:881
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Lymphadenopathy, Icht...	OMIM:618495
Fountain Syndrome	Craniofacial hyperostosis, Cutis marmorata, Short stature, Kyphosis, Synophrys, Erythema, Abnorma...	ORPHA:3219
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Short stature, Short neck, Postnatal growth retardation, Hyposegmentation of neutrophil nuclei, C...	OMIM:614800
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Ectodermal dysplasia, Atrichia, Periungual erythema, Scaling skin, Dystr...	OMIM:308205
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal lower limb amyotrophy, Kyphosis, Distal upper limb amyotrophy, Scoliosis	ORPHA:101075
Dubowitz Syndrome	Abnormality of neutrophils, Hypoplastic toenails, Low anterior hairline, Spina bifida occulta, Ab...	ORPHA:235
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Small for gestational age, Microcephaly, ...	OMIM:619869
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Micropenis, Osteoporosis	OMIM:614880
Leprosy	Absent eyebrow, Alopecia, Skeletal muscle atrophy, Abnormality of the spleen, Loss of eyelashes, ...	ORPHA:548
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Aciduria, ...	OMIM:203700
Thymic Neuroendocrine Tumor	Osteopenia, Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Pancreatic islet cell...	ORPHA:97289
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia, Chronic active hepatitis, Asplenia, Nephrocalcinosis, Nail dystrophy, Cholelithiasis, E...	OMIM:240300
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Hyperlordosis, Myopathy, Abnormal circulating creati...	ORPHA:369840
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os...	OMIM:259440
Chops Syndrome	Curly hair, Short stature, Thick hair, Tracheomalacia, Splenomegaly, Synophrys, Obesity, Horsesho...	OMIM:616368
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thoracic scoliosis, Absent nipple, Aplasia of the thymus, Facial palsy, Short stature, Sparse eye...	OMIM:620186
Prader-Willi Syndrome	Osteopenia, Hypopigmentation of hair, Short stature, Osteoporosis, Increased susceptibility to fr...	ORPHA:739
Sepsis In Premature Infants	Hepatomegaly, Cyanosis, Petechiae, Small for gestational age, Elevated circulating C-reactive pro...	ORPHA:90051
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Supernumerary nipple, Periventricular heterotopia, Synophrys, Low posterior hairline, Interhypoth...	OMIM:618929
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Skeletal muscle atrophy, Myositis, Splenomegaly, Eryth...	OMIM:619183
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow	OMIM:261990
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Hyperh...	ORPHA:1304
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Prolonged neonatal jaundice	OMIM:618512
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Hypereosinophilia, Weight lo...	ORPHA:2902
Al Amyloidosis	Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Howell-Jolly bo...	ORPHA:85443
Chime Syndrome	Erythema, Osteolysis, Skin ulcer, Fine hair, Acute leukemia, Hyperkeratosis, Ichthyosis, Sparse h...	ORPHA:3474
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Alopecia, Severe B lymphocytopenia, Failure to thrive, Alopecia totalis, Autoimmune...	ORPHA:293978
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of t...	ORPHA:2570
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Skin ulcer, Weight loss, Hepatosplenomegaly, Panniculitis, Hemophagocytosis	ORPHA:86884
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Short stature, Renal hypoplasia, Renal cyst, Fine hair, Hepatic fibrosis, Nail dyspl...	OMIM:614091
Colchicine Poisoning	Hyponatremia, Alopecia, Renal insufficiency, Leukocytosis, Abnormal blood ion concentration, Olig...	ORPHA:31824
Xeroderma Pigmentosum	Conjunctival telangiectasia, Craniofacial hyperostosis, Alopecia, Failure to thrive, Telangiectas...	ORPHA:910
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Abnormal lymphatic vessel morphology, Weight loss, Reduced proportion of CD4...	ORPHA:90362
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Micropenis, Abnormality of the nai...	OMIM:243800
Hawkinsinuria	Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Hawkinsinuria,...	OMIM:140350
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypospadias, Short stature, Sparse axillary hair, Enlarged polycystic ovaries, Sparse pubic hair,...	ORPHA:90796
Mirizzi Syndrome	Elevated hepatic transaminase, Dark urine, Pancreatitis, Jaundice, Cholesterol gallstones, Hyperb...	ORPHA:521219
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Increas...	ORPHA:178148
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Abnormal cir...	ORPHA:263455
Blepharocheilodontic Syndrome 1	Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis	OMIM:119580
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Weight loss	ORPHA:2023
Kapur-Toriello Syndrome	Pachygyria, Dysplastic corpus callosum, Patent ductus arteriosus, Failure to thrive, Polymicrogyria	ORPHA:2328
Sarcoidosis	Increased T cell count, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hemolytic ane...	ORPHA:797
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, C...	OMIM:620005
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Recurrent...	ORPHA:171876
Giant Axonal Neuropathy 1, Autosomal Recessive	Curly hair, Distal amyotrophy, Facial palsy, Scoliosis	OMIM:256850
Immunodeficiency, Common Variable, 10	Chiari type I malformation, Trachyonychia, Alopecia totalis, Decreased response to growth hormone...	OMIM:615577
Kleefstra Syndrome 2	Growth delay, Kyphosis, Scoliosis, Thick eyebrow	OMIM:617768
4Q21 Microdeletion Syndrome	Short neck, Kyphosis, Synophrys, Growth delay, Long eyelashes, Scoliosis, Intrauterine growth ret...	ORPHA:238750
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin...	ORPHA:90038
Cahmr Syndrome	Generalized hypertrichosis	OMIM:211770
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Failure to thrive in infancy, Lipodystrophy, Elevated circulating C-reactive protei...	OMIM:617099
Bainbridge-Ropers Syndrome	Highly arched eyebrow, Supernumerary nipple, Microcephaly, Inability to walk, Synophrys, Hirsutis...	OMIM:615485
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Myopathy, Cachexia	ORPHA:1876
Ectodermal Dysplasia-Skin Fragility Syndrome	Urethral stricture, Short stature, Scarring, Hypohidrosis, Palmoplantar keratoderma, Nail dystrop...	ORPHA:158668
X-Linked Intellectual Disability, Snyder Type	Decreased muscle mass, Hypospadias, Recurrent fractures, Kyphoscoliosis, Ectopic kidney, Sparse e...	ORPHA:3063
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Thickened skin, Darier's sign, Urticaria, Lymphadenopath...	ORPHA:79456
Mucopolysaccharidosis Type 6	Ovoid vertebral bodies, Short neck, Joint stiffness, Splenomegaly, Kyphosis, Disproportionate sho...	ORPHA:583
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P...	OMIM:618398
Bacterial Toxic-Shock Syndrome	Renal insufficiency, Myositis, Osteomyelitis, Elevated circulating creatine kinase concentration,...	ORPHA:36234
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Parakeratosis, Severe B lymphocytopenia, Failure to thrive, Inguinal hernia, Biliar...	ORPHA:83617
Lenz-Majewski Hyperostotic Dwarfism	Joint laxity, Prominent scalp veins, Failure to thrive, Hyperextensibility of the finger joints, ...	OMIM:151050
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Congenital muscular torticollis, Inguinal hernia, Severe short stature, ...	ORPHA:2215
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Noonan Syndrome 10	Curly hair, Short stature, Short neck, Sparse eyebrow, Hyperkeratosis, Scoliosis, Palmoplantar cu...	OMIM:616564
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Low back pain, Pelvic mass, Reduced C-peptide level, Weight loss,...	ORPHA:2126
Orofaciodigital Syndrome I	Alopecia, Dry hair, Abnormal cortical gyration, Microcephaly, Porencephalic cyst, Cerebral atroph...	OMIM:311200
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Failure to thrive, Microcephaly	OMIM:604273
Diastrophic Dysplasia	Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Kyphosis, Abnormal form...	ORPHA:628
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Skeletal muscle atrophy, Scapula...	ORPHA:26791
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Inguinal hernia, Splenomegaly, Increased vertebral height, Vacuolated lymphocytes, ...	OMIM:248500
Polymyositis	Hepatomegaly, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morpholog...	ORPHA:732
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Hypospadias, Absent eyelashes, Ectoderm...	OMIM:106260
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Distal lower limb amyotrophy, Joint laxity, Hypospadias, Short stature, Kyphosis, Macroglossia, A...	OMIM:300354
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Petechiae, Eosinophilia, Chronic noninfectious lymphad...	OMIM:603909
Erythrokeratodermia Variabilis Et Progressiva 7	Woolly hair, Dystrophic toenail, Anhidrosis, Palmoplantar hyperkeratosis	OMIM:619209
Peeling Skin Syndrome 5	Hyperkeratosis, Scaling skin	OMIM:617115
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Recurrent fractures, Tracheomalacia, Abnormality of hair texture, Spa...	ORPHA:2108
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Synophrys, Abnormal septu...	OMIM:300966
Fabry Disease	Conjunctival telangiectasia, Renal insufficiency, Telangiectasia of the skin, Angiokeratoma, Prot...	ORPHA:324
Infantile Krabbe Disease	Failure to thrive, Shoulder girdle muscle weakness, Cachexia	ORPHA:206436
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Curly hair, Redundant neck skin, Short stature, Joint hypermobility, Highly arched eyebrow, Low p...	OMIM:617360
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Renal insufficiency, Thrombocytopenia, Hyperammonemia, Leukopeni...	ORPHA:27
Pseudoxanthoma Elasticum	Telangiectasia of the skin, Lack of skin elasticity, Nephrocalcinosis, Excessive wrinkled skin, J...	ORPHA:758
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Abnormal fingernail morphology, Weight loss	ORPHA:1164
Ogden Syndrome	Torticollis, Inguinal hernia, Postnatal growth retardation, Cutis laxa, Fine hair, Scoliosis, Apl...	ORPHA:276432
Hamamy Syndrome	Osteopenia, Inguinal hernia, Sparse eyelashes, Recurrent fractures, Craniosynostosis, Microcytic ...	OMIM:611174
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Renal insufficiency, Failure to thrive, Hypercalcemia, Sparse ax...	ORPHA:95409
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Hepatomegaly, Inguinal hernia, Elevated circulating aspartate aminotransferase concentration, Hig...	OMIM:280000
Weaver Syndrome	Deep-set nails, Inguinal hernia, Thin nail, Diastasis recti, Kyphosis, Limited knee extension, Cu...	OMIM:277590
Chédiak-Higashi Syndrome	Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop...	ORPHA:167
Masa Syndrome	Kyphosis, Short stature, Hyperlordosis	OMIM:303350
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Functional a...	ORPHA:391487
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Macrocytic anemia, Failure to thrive, Hypercalcemia, Eosinophili...	ORPHA:199299
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Thrombocytopenia, Hyperammonemia, ...	OMIM:251110
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Leukoencephalopathy, Bradykinesia, Hypoplasia of the corpus callosum,...	OMIM:614924
Mucopolysaccharidosis Type 3	Cardiomegaly, Adenoiditis, Synophrys, Flexion contracture, Abnormal form of the vertebral bodies,...	ORPHA:581
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Alopecia, Abnormal intervertebral disk morphology, Abnormally ossified vertebrae, Hyd...	ORPHA:2636
Tenosynovial Giant Cell Tumor	Joint stiffness, Limitation of joint mobility, Osteolysis, Localized osteoporosis, Chondrocalcinosis	ORPHA:66627
Prolactinoma	Abnormal hair quantity, Osteopenia, Osteoporosis, Pallor, Delayed puberty	ORPHA:2965
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Joint laxity, Curly hair, Short stature, Hyperlordosis, Scoliosis, Failure to thrive	OMIM:300986
Stickler Syndrome	Skeletal muscle atrophy, Short stature, Abnormal dental enamel morphology, Cachexia, Kyphosis, Os...	ORPHA:828
Tyrosinemia, Type I	Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato...	OMIM:276700
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Severe short stature, Foot joint contracture, Infancy onset short-trunk short st...	ORPHA:444072
Williams Syndrome	Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Redundant sk...	ORPHA:904
Developmental And Epileptic Encephalopathy 49	Thick eyebrow, Cerebellar vermis hypoplasia, Cerebral calcification, Microcephaly, Dysplastic cor...	OMIM:617281
Craniolenticulosutural Dysplasia	Brittle hair, Short stature, Posterior wedging of vertebral bodies, Joint hyperflexibility, Coars...	ORPHA:50814
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Ectodermal dysplasia, Vesicoureteral reflux, Joint laxity, Alopecia, Hypospa...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Ectodermal dysplasia, Vesicoureteral reflux, Joint laxity, Alopecia, Hypospa...	ORPHA:363958
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Hypohidrotic ectodermal dysplasia, Sparse ...	OMIM:614940
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Prematurely aged appearance, Short stature, Cachexia, Dry skin, Urticaria, Cutaneous photosensiti...	ORPHA:220295
Acute Promyelocytic Leukemia	Pancytopenia, Petechiae, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Hematuria, Weight los...	ORPHA:520
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Short stature, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of l...	OMIM:230650
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Woolly hair, Palmoplantar keratoderma	OMIM:611528
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Acanthosis nigricans, Hepatic steatosis, Incre...	OMIM:615238
Rodrigues Blindness	Sparse hair, Ectodermal dysplasia, Short stature, Fine hair	OMIM:268320
Ruvalcaba Syndrome	Inguinal hernia, Kyphosis, Hematuria, Scoliosis, Delayed puberty, Abnormal vertebral epiphysis mo...	ORPHA:3121
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Alopecia, Pancytopenia, Fasciitis, Poor wound healing, Phimosis, U...	ORPHA:99921
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Patchy alopecia, Short stature, Camptodactyly of finger	ORPHA:85279
Pachyonychia Congenita 2	Subungual hyperkeratosis, Dry hair, Sparse scalp hair, Sparse eyebrow, Palmoplantar hyperkeratosi...	OMIM:167210
Orofaciodigital Syndrome Type 1	Elevated hepatic transaminase, Alopecia, Brittle hair, Multicystic kidney dysplasia, Renal insuff...	ORPHA:2750
Ichthyosis, Congenital, Autosomal Recessive 3	Anhidrosis, Erythema, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullo...	OMIM:606545
Rh-Null, Regulator Type	Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia	OMIM:268150
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Small for gestational age, Short stature, Meg...	OMIM:277380
Agel Amyloidosis	Proteinuria, Facial palsy, Stage 5 chronic kidney disease, Dry skin, Cutis laxa, Abnormal spleen ...	ORPHA:85448
Cerebrotendinous Xanthomatosis	Tendon xanthomatosis, Osteoporosis, Abnormal circulating cholesterol concentration, Cholelithiasi...	OMIM:213700
Localized Scleroderma	Skeletal muscle atrophy, Abnormal skin adnexa morphology, Fasciitis, Thickened skin, Flexion cont...	ORPHA:90289
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Short neck, Synophrys, Obesity, Fine hair, Thoracic kyphosis, Long eyelashes, Scoliosis	OMIM:620250
X Small Rings	Joint laxity, Short neck, Osteoporosis, Reduced bone mineral density, Low posterior hairline, Gro...	ORPHA:96201
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Leukocytosis, Jaundic...	ORPHA:20
Acute Radiation Syndrome	Skin ulcer, Telangiectasia, Hyperkeratosis, Scaling skin, Granulocytopenia, Lymphopenia, Thromboc...	ORPHA:454831
Isaacs Syndrome	Hyperhidrosis, Calf muscle hypertrophy, Weight loss	ORPHA:84142
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Bicoronal synostosis, Brittle hair, Hypospadias, Joint stiffness, Postnatal growth retardation, S...	OMIM:619184
Marshall-Smith Syndrome	Craniosynostosis, Reduced bone mineral density, Increased susceptibility to fractures, Joint hype...	ORPHA:561
Non-Functioning Paraganglioma	Hypercalcemia, Elevated urinary norepinephrine level, Episodic hyperhidrosis, Elevated urinary do...	ORPHA:94080
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Severe short stature, Abnor...	ORPHA:93314
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Hypoplasia of penis, Telangiectasia of the skin, Leukocytosis, Erythe...	ORPHA:99812
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Limitation of joint mobility, Congenital foot contractures, Distal amyotrophy, Scoliosis	ORPHA:3454
Williams-Beuren Syndrome	Osteopenia, Flexion contracture, Premature graying of hair, Nephrocalcinosis, Vesicoureteral refl...	OMIM:194050
Shwachman-Diamond Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Small for gest...	OMIM:260400
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Cutis marmorata, Portal hypertension, ...	OMIM:615688
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Micropenis, Osteoporosis	OMIM:614838
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Microcytic anemia, L...	OMIM:251900
Hallermann-Streiff Syndrome	Sparse scalp hair, Sparse eyelashes, Small for gestational age, Tracheomalacia, Hyperlordosis, Sp...	OMIM:234100
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Inguinal hernia, Abnormality of the pancreas, White hair, Fine hair, Reduced bone mineral density...	ORPHA:935
Hydranencephaly	Thalamic edema, Cerebral cortical atrophy, Primary microcephaly, Lethargy, Dysgenesis of the thal...	ORPHA:2177
Sandhoff Disease, Infantile Form	Cerebral cortical atrophy, Abnormal thalamic MRI signal intensity	ORPHA:309155
Campomelia, Cumming Type	Hepatomegaly, Abnormally ossified vertebrae, Multicystic kidney dysplasia, Prematurely aged appea...	ORPHA:1318
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Hypouricemia, Proteinuria, Short ...	OMIM:616026
Tsh-Secreting Pituitary Adenoma	Abnormal hair quantity, Osteopenia, Osteoporosis, Weight loss, Hyperhidrosis, Hypokalemia, Pallor...	ORPHA:91347
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro...	ORPHA:90003
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine...	OMIM:255120
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis, Kyphoscoliosis	OMIM:618339
Lichen Planus Pemphigoides	Skin vesicle, Hyperkeratosis, Abnormality of the nail	ORPHA:254478
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Hypoplastic sacrum, Small for gestational age, Rhizomelia, Growth delay, Nail dysplas...	OMIM:614813
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth d...	OMIM:301078
Ifap Syndrome 2	Ichthyosis follicularis, Nail dystrophy, Perioral erythema, Atrichia, Sparse hair	OMIM:619016
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Generalized joint lax...	ORPHA:251028
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium concentration, Osteoporo...	ORPHA:168558
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Pallor, Thromb...	ORPHA:134
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly, Erythema, Weight loss, Panniculitis	ORPHA:33577
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Short stature, Nail dystrophy, Intrauterine growth retardation, Failu...	OMIM:620040
Polyarteritis Nodosa	Cutis marmorata, Elevated circulating C-reactive protein concentration, Erythema, Skin ulcer, Wei...	ORPHA:767
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Curly hair, Dermal translucency, Slow-growing hair, Short stature, Highly arched eyebrow, Short n...	OMIM:617506
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Dysplastic corpus callosum, Gray matter heter...	ORPHA:314679
Chronic Hiccup	Abnormality of the diaphragm, Weight loss	ORPHA:396
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium concentration, Osteoporo...	ORPHA:289548
Scleromyxedema	Aged leonine appearance, Elevated circulating creatine kinase concentration, Thickened skin, Abno...	ORPHA:167635
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:300842
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Small for gestational age, Short stature, Urolithiasis, Gout, H...	OMIM:300661
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Inguinal hernia, Facial palsy, Supernumerary nipple, Camptodactyly ...	ORPHA:261349
Onychotrichodysplasia And Neutropenia	Curly hair, Chronic neutropenia, Curly eyelashes, Concave nail, Sparse pubic hair, Lymphocytosis,...	OMIM:258360
Thanatophoric Dysplasia	Redundant skin, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexi...	ORPHA:2655
Ovarian Dysgenesis 8	Eunuchoid habitus, Osteoporosis	OMIM:618187
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Failure to thrive, Hypouricemia, Increased circulating guanosine con...	OMIM:613179
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis, Nail dystrophy	OMIM:175900
Arthrogryposis, Distal, Type 5	Decreased muscle mass, Short stature, Limited wrist extension, Kyphosis, Distal arthrogryposis, F...	OMIM:108145
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Delayed epiphyseal os...	OMIM:602557
Igg4-Related Aortitis	Low back pain, Elevated circulating C-reactive protein concentration, Hypereosinophilia, Weight l...	ORPHA:449400
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Scapular winging, Abnormality of hair texture, Hyperlordosis, Hypophosp...	ORPHA:73223
Kaposiform Lymphangiomatosis	Abnormal thoracic spine morphology, Pancreatic cysts, Splenomegaly, Abnormal sacrum morphology, L...	ORPHA:464329
Cohen Syndrome	Failure to thrive in infancy, Thick hair, Short stature, Abnormal eyelash morphology, Kyphosis, L...	ORPHA:193
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Ectodermal dysplasia, Aminoaciduria, Hypoplastic nipples, Small nail, Sparse hair	OMIM:273400
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatremia, Short stature, ...	ORPHA:534
Odontotrichoungual-Digital-Palmar Syndrome	Nail dystrophy, Nail dysplasia, Abnormality of hair texture	OMIM:601957
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypospadias, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail ...	OMIM:610644
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Omphalocele, Small for gestational age, Diastasis recti, Highly arched eyebrow,...	OMIM:618419
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Distal lower limb amyotrophy, Facial hypotonia, Short stature, Flexion contracture, Lower limb hy...	OMIM:300534
Cerebrofaciothoracic Dysplasia	Short stature, Abnormal hair pattern, Short neck, Synophrys, Hemivertebrae, Low posterior hairlin...	ORPHA:1394
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Bicoronal synostosis, Camptodactyly of finger, Supernumerary nipple, Highly arched eyebrow, Unila...	OMIM:619951
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes	OMIM:616367
Frontonasal Dysplasia 2	Cerebellar vermis hypoplasia, Sparse eyelashes, Alopecia totalis, Agenesis of cerebellar vermis, ...	OMIM:613451
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Short stature, Renal salt wasting, Increased urinary 11-deoxycorticosterone level, Long...	ORPHA:90795
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Curly hair, Increased bone mineral density, Vertebral arch anomaly, Thin bony cortex	ORPHA:85184
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Di...	OMIM:618476
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Short stature, Kyphosis, Obesity, Scoliosis, Foot dorsiflexor weakness	OMIM:618124
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Joint laxity, Small for gestational age, Short stature, Kyphoscoliosis, Kyphosis, Delayed epiphys...	ORPHA:93360
Hurler Syndrome	Hepatomegaly, Short stature, Abnormality of the tonsils, Camptodactyly of finger, Short neck, Spl...	ORPHA:93473
Stüve-Wiedemann Syndrome	Osteopenia, Sacral dimple, Short stature, Camptodactyly of finger, Recurrent fractures, Flexion c...	ORPHA:3206
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Congenital muscular torticollis, Vaginal hernia, Short stature, Abnormal dental...	ORPHA:2916
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Exercise-induced rhabdomyolysis, Dicarboxylic aciduria, Elevated circulating creati...	OMIM:201475
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Dry hair, Renal insufficiency, Neurogenic bladder, H...	ORPHA:90324
Diffuse Alveolar Hemorrhage	Proteinuria, Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, He...	ORPHA:90060
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Inguinal hernia, Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Kypho...	OMIM:253200
Marshall-Smith Syndrome	Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Synophrys, Thoracic kyphosi...	OMIM:602535
Kagami-Ogata Syndrome	Omphalocele, Hepatomegaly, Inguinal hernia, Diastasis recti, Kyphoscoliosis, Splenomegaly, Flexio...	OMIM:608149
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hyperphosphaturia, Short stature, Osteomalacia, Increased circulating beta-C-terminal telopeptide...	ORPHA:157215
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Scoliosis, Skeletal muscle atrophy	ORPHA:101078
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Recurrent fractures, Splenomegaly, Anemia	OMIM:618107
Hypercalcemia, Infantile, 1	Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc...	OMIM:143880
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Increased intervertebral space, T lymphocytopenia, Abnormality of the cer...	ORPHA:508533
White-Sutton Syndrome	Joint laxity, Facial hypotonia, Short stature, Congenital diaphragmatic hernia, Short neck, Obesi...	OMIM:616364
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Increased circulating ferritin concentration, Splenomegaly, Jaundi...	OMIM:194380
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Renal hamartoma, Osteoporosis, Nep...	ORPHA:99880
Osteogenesis Imperfecta, Type Xx	Kyphoscoliosis, Highly arched eyebrow, Multiple prenatal fractures, Disproportionate short-limb s...	OMIM:618644
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Hypospadias, Kyphosis, Osteoporosis, Scoliosis, Delayed puberty...	OMIM:619718
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ...	OMIM:251100
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Anhidrosis, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent e...	OMIM:305100
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Fetal ascites, Synophrys, Flexion contracture, Facial er...	OMIM:619503
Pleural Mesothelioma	Hepatomegaly, Weight loss, Lymphadenopathy	ORPHA:50251
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia, Scoliosis	ORPHA:95232
Vulvovaginal Gingival Syndrome	Ridged nail, Parakeratosis, Erythema	ORPHA:83453
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Absent eyebrow, Autoimmune hemolytic anemia, Thickened skin, Hepatitis, Rectal absce...	ORPHA:436252
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Disproportionate short stature, Fine hair, Anemia, Truncal obesity, Joint hyperflexibility, Scoli...	ORPHA:2637
Frank-Ter Haar Syndrome	Osteopenia, Redundant neck skin, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphos...	OMIM:249420
Keutel Syndrome	Alopecia, Short stature	ORPHA:85202
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ...	ORPHA:65682
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Prominent superficial veins, Failure to thrive, Inguinal hernia, Intermittent throm...	OMIM:612541
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Graves Disease, Susceptibility To, 1	Hyperhidrosis, Abnormal abdomen morphology, Onycholysis, Weight loss	OMIM:275000
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ...	OMIM:613027
Intellectual Developmental Disorder, Autosomal Dominant 54	Anhidrosis, Small for gestational age, Thin nail, Short stature, Growth delay, Urinary retention,...	OMIM:617799
Crisponi Syndrome	Camptodactyly of finger, Kyphosis, Limitation of joint mobility, Flexion contracture, Hyperhidros...	ORPHA:1545
Heart Defects-Limb Shortening Syndrome	Kyphosis, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rhizom...	ORPHA:1354
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Sweet Syndrome	Acute myeloid leukemia, Myositis, Neutrophilia, Elevated circulating C-reactive protein concentra...	ORPHA:3243
Takayasu Arteritis	Skin ulcer, Hyperhidrosis, Weight loss, Arthritis, Anemia	ORPHA:3287
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Inguinal hernia, Short stature, Recurrent fractures, Poor wound healing, Reduced bone mineral den...	OMIM:619115
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy, Short stature, Cachexia, Kyphosis, Scoliosis	ORPHA:1969
Satoyoshi Syndrome	Short stature, Hyperlordosis, Abnormal hair morphology, Sparse or absent eyelashes, Alopecia univ...	ORPHA:3130
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Cyanosis, Short stature, Osteoporosis, Growth delay, Delayed puberty, Micropenis	ORPHA:2326
Craniofrontonasal Syndrome	Ridged nail, Curly hair, Split nail, Joint laxity, Hypospadias, Short stature, Congenital diaphra...	OMIM:304110
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Short stature, Sparse axillary hair, Unilateral renal agenesis, Sparse pubic...	OMIM:181270
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Sparse hair, Cavum septum pell...	OMIM:616449
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Renal insufficiency, Cutis marmorata, Proteinuria, Splenomegaly, M...	ORPHA:91138
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Abnormality of the musculature of the lower limbs, Short stature, Urinary incontinence, Absent pu...	ORPHA:464282
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:173200
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hypospadias, Short stature, Hyperlordosis, Short neck, Kyphosis, Abnormality of the ureter, Fused...	ORPHA:2522
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Acantholysis, Weight loss, Urticaria, Atypical scarring of...	ORPHA:704
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Failure to thrive, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Hepatic fibro...	OMIM:602579
Leptin Receptor Deficiency	Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ...	OMIM:614963
Thrombocytopenia 6	Myelofibrosis, Osteoporosis, Thrombocytopenia	OMIM:616937
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Flexion contracture of finger, Short stature, Camptodactyly of finger, Cardiomegaly...	OMIM:602782
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Hypospadias, Scoliosis, Joint stiffness	ORPHA:1548
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Abdominal obesity, Osteoporosis, Increased body weight	OMIM:615954
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Sacral dimple, Inguinal hernia, Large for gestational age, Kyphosis, Umbilical hernia, Enlarged k...	OMIM:618272
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo...	ORPHA:35858
Adrenocortical Carcinoma	Increased urinary cortisol level, Increased body weight, Weight loss, Hyperhidrosis, Hypokalemia,...	ORPHA:1501
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Chronic pancrea...	ORPHA:98908
Becker Nevus Syndrome	Lipoatrophy, Supernumerary nipple, Kyphosis, Scoliosis, Spina bifida occulta, Shoulder girdle mus...	ORPHA:64755
Fetal Hydantoin Syndrome	Short stature, Low posterior hairline, Coarse hair, Hernia, Intrauterine growth retardation, Hypo...	ORPHA:1912
Ritscher-Schinzel Syndrome 4	Curly hair, Short stature, Scoliosis, Limited knee extension, Micropenis, Joint hypermobility	OMIM:619435
Weismann-Netter Syndrome	Severe short stature, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Abnormal cortic...	ORPHA:3344
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Weight loss, Lymphadenopathy, Hernia, Ascites	ORPHA:26790
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Petechiae, Portal hypertension, Nodular regenerative...	OMIM:619463
Ichthyosis, Congenital, Autosomal Recessive 8	Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis	OMIM:613943
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyelashes, Short stature, Craniosynostosis, Sparse eyebrow, Renal cyst, Horseshoe kidney, ...	OMIM:250410
Dengue Fever	Hepatomegaly, Petechiae, Bruising susceptibility, Leukopenia, Ascites, Hypoproteinemia, Thrombocy...	ORPHA:99828
Craniolenticulosutural Dysplasia	Osteopenia, Joint laxity, Brittle hair, Short stature, Posterior wedging of vertebral bodies, Coa...	OMIM:607812
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Hepatomegaly, Short stature, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Synophrys, Obesity...	OMIM:618443
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Weight loss, Growth delay, Iron deficiency anemia, Exocrine ...	ORPHA:309031
Autoimmune Polyendocrinopathy Type 1	Alopecia, Abnormal fingernail morphology	ORPHA:3453
Bickerstaff Brainstem Encephalitis	Ataxia, Confusion, Dysesthesia, Impaired proprioception, Abnormal thalamic MRI signal intensity, ...	ORPHA:79138
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Scapular winging, L...	OMIM:616914
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ...	OMIM:616084
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Increased...	OMIM:259770
Central Diabetes Insipidus	Hyponatremia, Failure to thrive, Nocturia, Weight loss	ORPHA:178029
Oculocerebral Hypopigmentation Syndrome, Preus Type	Aplasia/Hypoplasia of the cerebellum, Abnormality of the diencephalon, White hair, Ataxia	ORPHA:2720
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Ureteral duplication, Cholangitis, Short neck, Renal cyst, Hepatic fibrosis, Nephrono...	OMIM:266920
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Joint hypermo...	OMIM:619418
Diamond-Blackfan Anemia 21	Cutis marmorata, Short stature, Erythroid hypoplasia, Synophrys, Widow's peak, Obesity, Anemia, C...	OMIM:620072
Thanatophoric Dysplasia Type 2	Short stature, Redundant skin, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Pl...	ORPHA:93274
Linear Nevus Sebaceus Syndrome	Alopecia, Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus callosum, ...	ORPHA:2612
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Trichodermodysplasia-Dental Alterations Syndrome	Sparse scalp hair, Brittle hair, Hyperlordosis, Fine hair, Sparse or absent eyelashes, Palmoplant...	ORPHA:3353
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Posterolateral diaphragmatic hernia, Osteopenia, Joint laxity, Inguinal hernia,...	OMIM:613177
Systemic Lupus Erythematosus	Hemolytic anemia, Alopecia, Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria, Leu...	ORPHA:536
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Osteopenia, Kyphosis, Long eyelashes,...	ORPHA:79329
Bartsocas-Papas Syndrome 1	Omphalocele, Absent eyebrow, Alopecia, Sparse scalp hair, Inguinal hernia, Alopecia totalis, Shor...	OMIM:263650
Gorlin-Chaudhry-Moss Syndrome	Short stature, Low anterior hairline, Coarse hair, Umbilical hernia, Coronal craniosynostosis, Ge...	ORPHA:2095
Cerebrotendinous Xanthomatosis	Osteopenia, Abnormality of the vertebral spinous processes, Prematurely aged appearance, Tendon x...	ORPHA:909
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Kyphoscoliosis, Atlantoaxial instability, C...	OMIM:614557
Nablus Mask-Like Facial Syndrome	Sparse eyelashes, Highly arched eyebrow, Short neck, Absent eyelashes, Sparse eyebrow, Craniosyno...	OMIM:608156
Goodpasture Syndrome	Renal insufficiency, Cyanosis, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuri...	OMIM:233450
Attrv122I Amyloidosis	Increased circulating NT-proBNP concentration, Cardiomegaly, Spinal canal stenosis, Left ventricu...	ORPHA:85451
Bartsocas-Papas Syndrome	Alopecia totalis, Hypoplastic toenails, Sparse or absent eyelashes, Synostosis of joints, Aplasia...	ORPHA:1234
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Sacral dimple, Inguinal hernia, Hypospadias, Osteoporosis, Growth delay, Lower-limb joint contrac...	ORPHA:459070
Restrictive Dermopathy	Osteopenia, Thoracic kyphoscoliosis, Ureteral duplication, Multiple joint contractures, Hypospadi...	ORPHA:1662
Polycythemia Vera	Myelofibrosis, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leu...	ORPHA:729
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Recurrent fractures, Spleno...	OMIM:239200
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dry hair, Microcephaly, Dysplastic corpus callosum, Low anterior hairline, Hypoplasia of the corp...	OMIM:618569
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Dicarboxylic aciduria, Elevated circulatin...	ORPHA:159
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ...	OMIM:309000
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopath...	ORPHA:85414
Amaurosis-Hypertrichosis Syndrome	Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow	ORPHA:1021
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circul...	ORPHA:158048
Mucopolysaccharidosis Type 4	Short stature, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Grayish en...	ORPHA:582
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Woolly hair, Increased circulating creatine kinase MB isoform	OMIM:610193
Weismann-Netter Syndrome	Severe short stature, Kyphosis, Horizontal sacrum, Scoliosis, Calvarial hyperostosis	OMIM:112350
Perrault Syndrome 4	Osteoporosis, Obesity	OMIM:615300
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exo...	OMIM:269200
Noonan Syndrome 9	Curly hair, Hydroureter, Short stature, Short neck, Sparse eyebrow	OMIM:616559
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Hypospadias, Cutis marmorata, Congenital diaphragmatic hernia, Sho...	OMIM:617602
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Short stature, Urinary incontinence, Facial palsy, Short neck, Kyphosis, Achille...	OMIM:301041
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Broad eyebrow, Neutrophilia, Small for gestational age, Scarring, Short stature, Mi...	ORPHA:99843
3M Syndrome	Scapular winging, Hypospadias, Abnormal dental enamel morphology, Short stature, Hyperlordosis, S...	ORPHA:2616
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Increased intraabdominal fat, Acanthosis nigri...	ORPHA:79085
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Mild postnatal growth retardation, Joint stiffness, Flexion contracture, Knee osteoarthritis, Oli...	ORPHA:85408
Rheumatoid Arthritis	Elevated circulating C-reactive protein concentration, Joint stiffness, Weight loss, Digital flex...	OMIM:180300
Autosomal Recessive Robinow Syndrome	Alopecia, Sacral dimple, Hypoplasia of penis, Multicystic kidney dysplasia, Camptodactyly of fing...	ORPHA:1507
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Growth delay, Macroglossia, Hyperbilirubinemia, Umbili...	OMIM:218700
Gaisböck Syndrome	Plethora, Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin c...	ORPHA:90041
Gaucher Disease	Osteopenia, Elevated circulating C-reactive protein concentration, Osteoarthritis, Hepatomegaly, ...	ORPHA:355
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Ectodermal dysplasia, Ureterocele, Vesicoureteral reflux, Micropenis, Sparse eyebrow, Megacystis,...	OMIM:604292
Achondroplasia	Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Kyphosis, Disproportionate short statu...	ORPHA:15
Teebi-Shaltout Syndrome	Ureteral stenosis, Slow-growing hair, Short stature, Highly arched eyebrow, Low anterior hairline...	OMIM:272950
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Neurogenic bladder, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin	OMIM:618527
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Acanthocytosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt...	OMIM:604777
Tropical Endomyocardial Fibrosis	Hepatomegaly, Eosinophilia, Cachexia, Cardiomegaly, Splenomegaly, Myocardial calcification, Hypoa...	ORPHA:75565
Noonan Syndrome	Abnormal hair quantity, Hepatomegaly, Short stature, Abnormality of the spleen, Abnormality of th...	ORPHA:648
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Joint laxity, Intrauterine growth retardation, Hypospadias, Fine hair	ORPHA:363686
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Increased body weight, Facial erythema, Skin vesicle, Palmoplantar erythema, Stria...	ORPHA:64745
Myhre Syndrome	Vertebral fusion, Small for gestational age, Short stature, Short neck, Joint stiffness, Thickene...	OMIM:139210
Saul-Wilson Syndrome	Prominent superficial veins, Short stature, Progeroid facial appearance, Postnatal growth retarda...	OMIM:618150
Harlequin Ichthyosis	Hyperkeratosis, Congenital ichthyosiform erythroderma, Limitation of joint mobility, Ichthyosis	ORPHA:457
Autosomal Recessive Spondylocostal Dysostosis	Inguinal hernia, Abnormal intervertebral disk morphology, Hypospadias, Camptodactyly of finger, C...	ORPHA:2311
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Exercise-induced rhabdomyolysis, Small for gestation...	ORPHA:26793
Marden-Walker Syndrome	Decreased muscle mass, Inguinal hernia, Hypospadias, Short neck, Postnatal growth retardation, Ky...	OMIM:248700
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Short neck, Epispadias, Hemivertebrae, Abnormal form of the vertebral bodies...	ORPHA:3107
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Microvesicular hepatic steatosis, Reduced bone mineral density, Hypotriglyceridemia, Hepatomegaly...	ORPHA:404454
Cdags Syndrome	Sparse scalp hair, Porokeratosis, Sparse eyelashes, Hypospadias, Sagittal craniosynostosis, Spars...	OMIM:603116
Woodhouse-Sakati Syndrome	Osteopenia, Alopecia, Hyperlipidemia, Growth delay, Scaling skin, Delayed puberty, Micropenis, Ap...	ORPHA:3464
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Pallor, Neutrop...	ORPHA:3260
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Ruvalcaba Syndrome	Inguinal hernia, Short stature, Kyphosis, Scoliosis, Delayed puberty, Limited elbow extension	OMIM:180870
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Increased circulating ...	OMIM:615846
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Renal insufficiency, Neutrophilia, Eosinophilia, Acantholysis, Leu...	ORPHA:293173
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Mosaic Variegated Aneuploidy Syndrome 2	Rhizomelia, Short stature, Small for gestational age, Craniosynostosis, Growth delay, Severe intr...	OMIM:614114
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Skeletal muscle atroph...	OMIM:615512
Mucopolysaccharidosis Type 7	Anterior beaking of lower thoracic vertebrae, Inguinal hernia, Short neck, Joint stiffness, Splen...	ORPHA:584
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal...	ORPHA:79124
Genitopatellar Syndrome	Sparse scalp hair, Multicystic kidney dysplasia, Hip contracture, Short stature, Knee flexion con...	ORPHA:85201
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok...	OMIM:620148
Acys Amyloidosis	Amyloidosis, Cerebral amyloid angiopathy	ORPHA:100008
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Skeletal muscle atrophy, Limb joint contracture, Short stature, Splenomegaly, Micro...	OMIM:301072
Acrofacial Dysostosis, Catania Type	Inguinal hernia, Hypospadias, Short stature, Abnormal hair pattern, Coarse hair, Intrauterine gro...	ORPHA:1786
Biotinidase Deficiency	Alopecia, Organic aciduria, Limb muscle weakness, Hyperammonemia	ORPHA:79241
Holoprosencephaly 7	Microcephaly, Synophrys, Partial agenesis of the corpus callosum, Panhypopituitarism, Fusion of t...	OMIM:610828
Spastic Paraplegia 46, Autosomal Recessive	Urinary incontinence, Kyphosis, Scoliosis, Limb muscle weakness, Lower limb muscle weakness	OMIM:614409
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Sparse eyelashes, Abscess, ...	ORPHA:125
Kindler Epidermolysis Bullosa	Urethral stricture, Camptodactyly of finger, Abnormal dental enamel morphology, Phimosis, Erythem...	ORPHA:2908
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Ap...	ORPHA:1812
Dermatomyositis	Abnormal hair quantity, Abnormal eosinophil morphology, Telangiectasia of the skin, Erythema, Ski...	ORPHA:221
Phakomatosis Pigmentokeratotica	Rhabdomyosarcoma, Hyperhidrosis, Unilateral renal hypoplasia, Patchy alopecia, Scoliosis, Hypopho...	ORPHA:2874
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V...	ORPHA:565612
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Inguinal hernia, Hydroureter, Sparse eyelashes, Sparse axillary hair, Sparse e...	OMIM:129900
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Eosinophilia, Angioede...	ORPHA:139402
Trisomy 13	Abnormal eyelash morphology, Kyphosis, Abnormality of the ureter, Multiple renal cysts, Scoliosis...	ORPHA:3378
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Follicular hyperkeratosis	OMIM:613736
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Kyphosis, Synophrys, Low anterior hairline, Hirsutism, Frontal upsweep of hair,...	OMIM:617061
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Joint laxity, Uterine prolapse, Short stature, Decreased serum iron, Osteoporosis, Ne...	ORPHA:438213
Hennekam Syndrome	Mild postnatal growth retardation, Camptodactyly of finger, Sparse axillary hair, Ectopic kidney,...	ORPHA:2136
Costello Syndrome	Deep-set nails, Curly hair, Renal insufficiency, Redundant neck skin, Hyperextensibility of the f...	OMIM:218040
Roberts Syndrome	Progressive flexion contractures, Craniosynostosis, Short neck, Postnatal growth retardation, Lon...	ORPHA:3103
Cole-Carpenter Syndrome 2	Osteopenia, Short stature, Recurrent fractures, Postnatal growth retardation, Kyphosis, Platyspon...	OMIM:616294
Pachyonychia Congenita 1	Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis	OMIM:167200
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair, Hypospadias, Diastasis recti, Large for gestational age	ORPHA:457485
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Abnormal medulla oblongata morphology, Ataxia, Confusion, Abnormal cerebellu...	ORPHA:68
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair, Scoliosis	OMIM:619910
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Emanuel Syndrome	Sacral dimple, Torticollis, Inguinal hernia, Unilateral renal agenesis, Congenital diaphragmatic ...	OMIM:609029
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Ichthyosis, Congenital, Autosomal Recessive 9	Hypergranulosis, Hypohidrosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, ...	OMIM:615023
Brachycephaly, Trichomegaly, And Developmental Delay	Brittle hair, Short stature, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow	OMIM:617412
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Osteomyelitis l...	OMIM:256810
Reactive Arthritis	Osteomyelitis, Joint stiffness, Enthesitis, Weight loss, Hyperkeratosis, Arthritis, Dystrophic fi...	ORPHA:29207
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Short stature, Hyperkeratosis, Platyspondyly, Intrauterine growth retardation	ORPHA:163966
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Abnormal dental enamel morphology, Spar...	ORPHA:1071
Pearson Syndrome	Renal cyst, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytos...	ORPHA:699
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbumi...	ORPHA:67
Attrv30M Amyloidosis	Nephropathy, Weight loss, Abnormal renal physiology, Cardiomegaly	ORPHA:85447
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss	ORPHA:33276
Noonan Syndrome With Multiple Lentigines	Scapular winging, Hypospadias, Short stature, Aplasia/Hypoplasia of the abdominal wall musculatur...	ORPHA:500
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Alopecia, Lipodystrophy, Abnormal eyelash morphology, Bone cyst, Osteo...	ORPHA:2396
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Fine hair	ORPHA:3236
Pseudoachondroplasia	Joint laxity, Lumbar hyperlordosis, Limited hip extension, Hypoplasia of the odontoid process, Ky...	OMIM:177170
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint laxity, Facial hypotonia, Short stature, Kyphosis, Scoliosis, Micropenis, Abnormality of mu...	ORPHA:364028
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth...	ORPHA:99867
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Hypopigmentation of hair, Thickened skin, Albinism	ORPHA:79431
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Limitation o...	OMIM:313400
Micro Syndrome	Hypoplasia of penis, Short stature, Joint stiffness, Kyphosis, Generalized hirsutism, Scoliosis, ...	ORPHA:2510
Intellectual Developmental Disorder, Autosomal Dominant 57	Short stature, Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of t...	OMIM:618050
Trichorhinophalangeal Syndrome, Type Ii	Osteopenia, Mild postnatal growth retardation, Hyperhidrosis, Fragile nails, Vesicoureteral reflu...	OMIM:150230
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Short stature, Kyphosis, Synophrys, Flexion contracture, Bone cyst, Osteolysis, ...	ORPHA:3042
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Patent ductus arteriosus, Dysplastic corpus callosum, High anterior hairline	ORPHA:363444
Pituitary Hormone Deficiency, Combined, 6	Short stature, Hyperbilirubinemia	OMIM:613986
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Kyphosis, Flexion contractur...	OMIM:618291
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Inguinal hernia, Hyperlordosis, Short neck, Kyphosis, Abnormal form of...	ORPHA:2789
Vascular Ehlers-Danlos Syndrome	Redundant skin, Osteoarthritis, Alopecia, Prematurely aged appearance, Hypospadias, Short stature...	ORPHA:286
Oculodentodigital Dysplasia	Dry hair, Neurogenic bladder, Slow-growing hair, Fine hair, Joint contracture of the 5th finger, ...	OMIM:164200
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Jaundice...	OMIM:613095
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Brittle hair, Cholangitis, Microvesicular hepati...	OMIM:124000
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Poland Syndrome	Hypospadias, Congenital diaphragmatic hernia, Short neck, Kyphosis, Aplasia of the pectoralis maj...	ORPHA:2911
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Weight loss, Lymphocy...	ORPHA:514
Huntington Disease	Abnormal circulating cholesterol concentration, Decreased body mass index, Weight loss	ORPHA:399
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss	ORPHA:2494
Lymphatic Malformation 12	Hyperkeratosis, Inguinal hernia, Fetal ascites	OMIM:620014
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Elevated circulating C-reacti...	OMIM:619381
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co...	ORPHA:228308
Marshall Syndrome	Sparse eyelashes, Short stature, Sparse eyebrow, Osteoarthritis, Hypohidrosis, Sparse hair	ORPHA:560
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse eyelashes, Short stature, Fine hair, Sparse hair, Failure to thrive	OMIM:257850
Singleton-Merten Syndrome 1	Osteopenia, Short stature, Cardiomegaly, Osteoporosis, Osteolytic defects of the phalanges of the...	OMIM:182250
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Episodic hyperhidrosis, Elevat...	ORPHA:276621
Cowden Syndrome	Abnormal penis morphology, Short stature, Enlarged polycystic ovaries, Kyphosis, Bone cyst, Macro...	ORPHA:201
Intellectual Developmental Disorder, Autosomal Dominant 34	Curly hair, Synophrys, Coarse hair	OMIM:616351
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Myositis, Fasciitis, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocy...	ORPHA:32960
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Short stature, Abscess, Perianal abscess, Splenomegaly, Lym...	OMIM:618935
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cutaneous photosensitivity, Cachexia	ORPHA:3217
Interstitial Lung And Liver Disease	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:615486
Psoriasis 2	Hyperkeratosis, Parakeratosis, Scaling skin	OMIM:602723
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail, Hyperhidrosis	ORPHA:28378
Zttk Syndrome	Absent gallbladder, Curly hair, Short stature, Polyuria, Unilateral renal agenesis, Joint hypermo...	OMIM:617140
17Q11 Microdeletion Syndrome	Osteopenia, Telangiectasia of the skin, Short stature, Rhabdomyosarcoma, Kyphosis, Thickened skin...	ORPHA:97685
3C Syndrome	Hypoplasia of penis, Inguinal hernia, Hypospadias, Short stature, Short neck, Postnatal growth re...	ORPHA:7
Adrenomyeloneuropathy	Back pain, Urinary incontinence, Frontal balding, Abnormal circulating fatty-acid concentration, ...	ORPHA:139399
Smith-Mccort Dysplasia 1	Multicentric femoral head ossification, Short stature, Short neck, Hypoplasia of the odontoid pro...	OMIM:607326
Distal Deletion 12Q	Failure to thrive in infancy, Short stature, Kyphoscoliosis, Short neck, Ectopic kidney, Biliary ...	ORPHA:96149
Kaufman Oculocerebrofacial Syndrome	Short stature, Ovoid vertebral bodies, Sparse eyebrow, Hypocholesterolemia, Sparse hair, Failure ...	OMIM:244450
Milroy Disease	Hyperkeratosis, Toenail dysplasia, Cellulitis	ORPHA:79452
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Distal Deletion 19P	Alopecia, Vaginal hernia, Keloids, Joint hyperflexibility, Umbilical hernia, Thick eyebrow	ORPHA:96129
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t...	OMIM:183900
Clark-Baraitser syndrome	Joint laxity, Kyphosis, Obesity, Scoliosis	OMIM:300602
Citrullinemia, Classic	Hepatomegaly, Failure to thrive, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication...	OMIM:215700
6Q Terminal Deletion Syndrome	Joint laxity, Hypospadias, Highly arched eyebrow, Short neck, Phimosis, Low anterior hairline, Ob...	ORPHA:75857
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Short stature, Elevated circulating creatine kinase concentration, Re...	ORPHA:2785
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Hypohidrosis, Short eyelashes, Palmoplantar hyperhidrosis, Pal...	OMIM:150400
Eosinophilic Granulomatosis With Polyangiitis	Renal insufficiency, Myositis, Cutis marmorata, Eosinophilia, Proteinuria, Weight loss, Urticaria...	ORPHA:183
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn...	OMIM:265000
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Hiatus hernia, Stage 5 chronic kidney disease, Focal segmental glome...	OMIM:619603
Goldberg-Shprintzen Syndrome	Highly arched eyebrow, Microcephaly, Synophrys, Hypoplasia of the corpus callosum, Sparse hair, P...	OMIM:609460
Secondary Short Bowel Syndrome	Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Weight loss, Growth delay, ...	ORPHA:95427
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Hepatomegaly, Highly arched eyebrow, Kyphosis, Long eyelashes...	OMIM:619005
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Craniofacial hyperostosis, Short stature, Redundant skin, Kyphosis, Abno...	ORPHA:192
Familial Tumoral Calcinosis	Hepatomegaly, Calcification of muscles, Splenomegaly, Erythema, Hyperhidrosis, Nephrocalcinosis, ...	ORPHA:53715
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse scalp hair, Renal insufficiency, Sparse eyelashes, Proteinuria, Sparse eyebrow, Erythema, ...	OMIM:614748
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Kyphosis, Hyperhidrosis, Contractures of the large joint...	ORPHA:521426
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Short stature, Kyphosis, Joint hyperflexibility, Scoliosis, Hypercholesterolemia	ORPHA:2479
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Low back pain, Pancytopenia, Myelofibrosis, Splenomegaly, Acute myelomono...	ORPHA:86843
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Kyphosis, Abnormal form of the vertebral bodies, Increased susceptibility to...	ORPHA:2769
Geleophysic Dysplasia 1	Osteopenia, Hepatomegaly, Short stature, Camptodactyly of finger, Joint stiffness, Thickened skin...	OMIM:231050
Zimmermann-Laband Syndrome 1	Hepatomegaly, Thick eyebrow, Hyperextensibility of the finger joints, Thick hair, Highly arched e...	OMIM:135500
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Uterine prolapse, Inguinal hernia, ...	ORPHA:284984
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Dysostosis, Stanescu Type	Increased bone mineral density, Short stature, Abnormal dental enamel morphology, Hyperlordosis, ...	ORPHA:1798
Orofaciodigital Syndrome Type 3	Thoracic kyphosis, Stage 5 chronic kidney disease, Abnormality of hair texture	ORPHA:2752
Adams-Oliver Syndrome 5	Inguinal hernia, Portal vein thrombosis, Splenomegaly, Hypoplastic toenails, Hypersplenism, Absen...	OMIM:616028
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, Short stature, Short neck, Kyphosis, Low anterior hairline, Hemivertebrae,...	OMIM:618223
Simple Cryoglobulinemia	Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Chro...	ORPHA:91139
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Lumbar hyperlordosis, Rhizomelia, Redundant skin, Urinary incontinence, Severe sho...	OMIM:616482
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Kyphosis, Umbilical hernia, Scoliosis, Joint hyperflexibility	ORPHA:2181
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Acantholysis,...	ORPHA:537
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Kyphosis, Flexion contracture, Hyperhidrosis, Distal amyotrophy, Scoliosis	OMIM:609541
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Kyphosis, Contractures of the large joints, Palmoplantar hyperhidrosis, Failure to thrive, Hirsut...	OMIM:617527
Huntington Disease-Like 2	Weight loss	OMIM:606438
Restrictive Dermopathy 1	Ureteral duplication, Prominent superficial blood vessels, Sparse eyelashes, Short nail, Kyphosco...	OMIM:275210
Neurooculorenal Syndrome	Unilateral renal agenesis, Highly arched eyebrow, Conjugated hyperbilirubinemia, Postnatal growth...	OMIM:620305
Distal Triplication 15Q	Craniosynostosis, Large for gestational age, Kyphosis, Flexion contracture, Horseshoe kidney, Pol...	ORPHA:314588
Cystic Fibrosis	Elevated hepatic transaminase, Osteopenia, Osteoporosis, Nephrolithiasis, Abnormality of the live...	ORPHA:586
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Ataxia, Anterior pituitary hypoplasia, Supernumerary nipple, Dysplastic corpus callosum, Patent d...	ORPHA:466791
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of penis, Hypospadias, Sparse axillary hair, Sparse pubic hair, Osteoporosis, Nephroti...	ORPHA:251510
X-Linked Charcot-Marie-Tooth Disease Type 5	Skeletal muscle hypertrophy, Kyphosis, Scoliosis	ORPHA:99014
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Inguinal hernia, Recurrent fractures, Multiple prenatal fractures, Kyph...	OMIM:610915
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinop...	ORPHA:2035
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen...	ORPHA:97282
White-Kernohan Syndrome	Dysplastic corpus callosum, Synophrys, Broad medial eyebrow, Obesity, Long eyelashes, Horizontal ...	OMIM:619426
Duplication Of The Pituitary Gland	Microcephaly, Abnormal pituitary gland morphology, Abnormal hypothalamus morphology, Decreased bo...	ORPHA:314621
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Short stature, Scoliosis	ORPHA:1858
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Slender build, Scoliosis	OMIM:300676
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Herpes Simplex Virus Encephalitis	Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouricemia, Osteoma...	ORPHA:3337
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Severe short stature, Hypospadias, Kyphoscoliosis, Severe generalized osteoporos...	OMIM:210730
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Bladder diverticulum, Atrophic ...	OMIM:617821
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,...	OMIM:102700
Distal Renal Tubular Acidosis	Hypocitraturia, Renal cyst, Reduced bone mineral density, Nephrocalcinosis, Aminoaciduria, Low-mo...	ORPHA:18
Osteosarcoma	Pathologic fracture, Osteolysis, Weight loss	ORPHA:668
Pmm2-Cdg	Elevated hepatic transaminase, Osteopenia, Joint laxity, Multiple joint contractures, Proteinuria...	ORPHA:79318
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Hypospadias, Hypop...	ORPHA:444077
Chronic Beryllium Disease	Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss	ORPHA:133
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Hypercalcemia, Kyphosis, Synophrys, Scoliosis, Failure to thrive	ORPHA:476126
Melnick-Needles Syndrome	Omphalocele, Ureteral stenosis, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Osteoly...	OMIM:309350
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red...	OMIM:607459
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o...	ORPHA:36426
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ataxia, Dysplastic corpus callosum, Patent ductus arteriosus, Thick corpus callosum, Pineal cyst,...	OMIM:300967
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Spider hemangioma, Chronic pa...	OMIM:232240
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Back pain, Pancreatic adenocarcinoma, Jaundice, Extrahepatic chole...	ORPHA:1333
Multiple Endocrine Neoplasia, Type Iib	Joint laxity, Failure to thrive in infancy, Hyperlordosis, Kyphosis, Elevated urinary epinephrine...	OMIM:162300
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Rhizomelia, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyl...	OMIM:618019
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Hypopigmentation of hair, Abnormal eyebrow morphology, Splenomegaly, Hypohidrosis, ...	ORPHA:163746
Acrocephalopolydactylous Dysplasia	Omphalocele, Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Short neck, Thickened skin, Hep...	OMIM:200995
Genitourinary And/Or Brain Malformation Syndrome	Absent septum pellucidum, Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Chia...	OMIM:618820
Dyggve-Melchior-Clausen Disease	Lumbar hyperlordosis, Multicentric ossification of proximal femoral epiphyses, Short neck, Multic...	OMIM:223800
Lymphoid Interstitial Pneumonia	Hepatomegaly, Mediastinal lymphadenopathy, Weight loss, Abnormality of connective tissue, Rheumat...	ORPHA:79128
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Dry hair, Brittle hair, Short stature, Growth delay, Macroglossia, Nail dystrophy	ORPHA:93947
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis	OMIM:133200
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis	OMIM:136630
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cerebellar dysplasia, Microcephaly, Partial absence of cerebellar vermis, Cerebellar hypoplasia, ...	OMIM:613150
X-Linked Hypophosphatemia	Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limita...	ORPHA:89936
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse scalp hair, Inguinal hernia, Hypospadias, Sparse eyebrow, Kyphosis, Male urethral meatus s...	ORPHA:464738
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Palpable purpura, Cutis marmorata, M...	ORPHA:48435
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Rhabdomyolysis, Weight loss	OMIM:188580
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Osteopenia, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Growth de...	OMIM:617913
Cardiofacioneurodevelopmental Syndrome	Asplenia, Kyphosis, Abdominal situs inversus, Camptodactyly, Aplasia/Hypoplasia of the nails	OMIM:619123
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair	OMIM:608615
Multiple Endocrine Neoplasia, Type Iia	Elevated urinary norepinephrine level, Elevated urinary dopamine level, Cutaneous lichen amyloido...	OMIM:171400
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Short stature, Autoimmune thrombocytopeni...	ORPHA:1855
Focal Dermal Hypoplasia	Ridged nail, Ureteral duplication, Brittle hair, Congenital diaphragmatic hernia, Absent fingerna...	OMIM:305600
Staphylococcal Necrotizing Pneumonia	Leukopenia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:36238
Immunodeficiency 87 And Autoimmunity	Elevated circulating C-reactive protein concentration, Hepatic steatosis, Decreased proportion of...	OMIM:619573
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma...	ORPHA:79501
Arterial Tortuosity Syndrome	Inguinal hernia, Telangiectasia of the skin, Prematurely aged appearance, Redundant skin, Cranios...	ORPHA:3342
African Trypanosomiasis	Abnormal basal ganglia MRI signal intensity, Alopecia, Somatic sensory dysfunction, Akinesia, Imp...	ORPHA:3385
Myelofibrosis	Myelofibrosis, Splenomegaly, Pallor, Myeloproliferative disorder, Purpura	OMIM:254450
2Q31.1 Microdeletion Syndrome	Inguinal hernia, Short stature, Camptodactyly of finger, Short neck, Hypoplastic toenails, Abnorm...	ORPHA:251014
Coffin-Siris Syndrome 1	Dry hair, Congenital diaphragmatic hernia, Ectopic kidney, Spina bifida occulta, Joint laxity, Hy...	OMIM:135900
Cowden Syndrome 1	Acrokeratosis, Kyphosis, Palmoplantar hyperkeratosis, Scoliosis, Lymphopenia, Subcutaneous lipoma	OMIM:158350
Pontocerebellar Hypoplasia, Type 17	Kyphosis, Intrauterine growth retardation, Low anterior hairline, Limb hypertonia	OMIM:619909
Aspartylglucosaminuria	Joint laxity, Hepatomegaly, Aspartylglucosaminuria, Short stature, Kyphosis, Vacuolated lymphocyt...	OMIM:208400
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p...	ORPHA:449395
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen...	ORPHA:97283
Trisomy 9P	Sacral dimple, Short neck, Hypoplastic toenails, Kyphosis, Fingernail dysplasia, Scoliosis, Hypop...	ORPHA:236
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Scoliosis	OMIM:610743
Arterial Tortuosity Syndrome	Joint laxity, Inguinal hernia, Progeroid facial appearance, Congenital diaphragmatic hernia, Hiat...	OMIM:208050
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Kyphosis, Abnormal me...	ORPHA:2075
16Q24.3 Microdeletion Syndrome	Highly arched eyebrow, Abnormal hair pattern, Kyphosis, Increased mean corpuscular volume, Scolio...	ORPHA:261250
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias, Kyphosis, Joint hyperflexibility, Scoliosis, Intrauter...	ORPHA:2115
Lopes-Maciel-Rodan Syndrome	Kyphosis, Scoliosis	OMIM:617435
Osteogenesis Imperfecta, Type Iv	Short stature, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Increased susceptibi...	OMIM:166220
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Short stature, Elevated circulating alp...	ORPHA:420741
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Inguinal hernia, Cutis marmorata, Short stature, Highly ...	OMIM:303600
Relapsing Polychondritis	Renal insufficiency, Alopecia, Proteinuria, Erythema, Limitation of joint mobility, Hepatitis, He...	ORPHA:728
Ataxia-Telangiectasia-Like Disorder 2	Conjunctival telangiectasia, Short stature, Absent pubertal growth spurt, Progeroid facial appear...	OMIM:615919
Chilton-Okur-Chung Neurodevelopmental Syndrome	Sparse scalp hair, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Anterior pituitary hypopl...	OMIM:619841
Peeling Skin Syndrome 6	Orthokeratosis, Parakeratosis, Dry skin, Scaling skin	OMIM:618084
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Episodic hyperhidrosis, Elevat...	ORPHA:29072
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Woodhouse-Sakati Syndrome	Alopecia, Hyperlipidemia, Fine hair, Sparse hair, Micropenis	OMIM:241080
Thymic Carcinoma	Neoplasm of the thymus, Mediastinal lymphadenopathy, Hyperhidrosis, Weight loss	ORPHA:99868
Familial Benign Chronic Pemphigus	Skin vesicle, Hyperkeratosis, Erythema, Acantholysis	ORPHA:2841
Subacute Cutaneous Lupus Erythematosus	Hyperkeratosis, Cutaneous photosensitivity, Psoriasiform lesion, Vasculitis in the skin	ORPHA:163525
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Neoplasm of the thymus, Intrahepatic chole...	ORPHA:97261
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Perianal abscess, Weight loss, Iron defici...	OMIM:301074
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Acanthocytosis, Necrolytic migratory eryth...	ORPHA:97280
Rat-Bite Fever	Abdominal aseptic abscess, Back pain, Lymphadenitis, Oligoarthritis, Tendonitis, Weight loss, Art...	ORPHA:31205
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Joint ...	ORPHA:2062
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Abnormal circulating creatine concentration,...	ORPHA:440437
Intellectual Developmental Disorder, Autosomal Dominant 68	Urinary incontinence, Joint contracture of the 5th finger, Sparse hair, Intrauterine growth retar...	OMIM:619934
Marburg Hemorrhagic Fever	Back pain, Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Abnor...	ORPHA:99826
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Abnormal muscle fi...	ORPHA:79102
Argininemia	Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Cholestasis, Hyperammonemia, ...	OMIM:207800
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Abnormal form of the vertebral ...	ORPHA:818
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen...	ORPHA:97278
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Kyphoscoliosis, Postnatal growth retardation, Kyphosis, Reduced alpha/beta synthesis...	OMIM:301040
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias, Failure to thriv...	OMIM:163950
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia, Vesicovaginal fistula, Intrauterine growth retardation, Ureteropelvi...	OMIM:300896
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Lipoma, Hyperkeratosis, Pilomatrixoma, Embryonal rhabdomyosarcoma	OMIM:620189
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Flexion contracture of finger, Kyphoscoliosis, Hyperlordosis, Hypoplasia of the ...	ORPHA:2020
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy	ORPHA:330001
Classical Ehlers-Danlos Syndrome	Osteopenia, Striae distensae, Inguinal hernia, Prematurely aged appearance, Poor wound healing, H...	ORPHA:287
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Abdominal mass, Elevated urinary dopamine level, Abnormalit...	OMIM:256700
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Hepatic ste...	ORPHA:1606
Erdheim-Chester Disease	Renal insufficiency, Increased bone mineral density, Osteomyelitis, Dysuria, Retroperitoneal fibr...	ORPHA:35687
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Skeletal muscle atrophy, Alopecia, Weakness of facial musculature,...	ORPHA:273
Meige Disease	Absence of lymph node germinal center, Skin ulcer, Atypical scarring of skin, Lymph node hypoplas...	ORPHA:90186
Marden-Walker Syndrome	Abnormal penis morphology, Skeletal muscle atrophy, Multicystic kidney dysplasia, Hydroureter, Hy...	ORPHA:2461
Stickler Syndrome, Type I	Joint stiffness, Kyphosis, Osteoarthritis, Arthritis, Platyspondyly, Morbus Scheuermann, Scoliosi...	OMIM:108300
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Micropenis	OMIM:615433
Adams-Oliver Syndrome 1	Alopecia, Supernumerary nipple, Microcephaly, Pachygyria, Cortical dysplasia, Small nail, Hypopla...	OMIM:100300
Atypical Rett Syndrome	Growth delay, Kyphosis, Scoliosis	ORPHA:3095
Myasthenic Syndrome, Congenital, 20, Presynaptic	Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita	OMIM:617143
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Calcium nephrolithiasis, Cyanosis, Abnormal circulating calcium concentration, Weig...	ORPHA:60025
Viss Syndrome	Prominent superficial blood vessels, Generalized joint laxity, Joint laxity, Alopecia, Short stat...	OMIM:619472
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Lumbar hyperlordosis, Limited hip extension, Camptodactyly of finger, Highly arched eyebrow, Shor...	OMIM:143095
Loeffler Endocarditis	Left ventricular hypertrophy, Eosinophilia, Weight loss	ORPHA:75566
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Malformation of the hepatic ductal plate,...	OMIM:208540
Glucose-Galactose Malabsorption	Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H...	ORPHA:35710
Crimean-Congo Hemorrhagic Fever	Stiff neck, Elevated circulating creatine kinase concentration, Hyperhidrosis, Leukopenia, Cholec...	ORPHA:99827
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	ORPHA:412
Hereditary Central Diabetes Insipidus	Growth delay, Weight loss	ORPHA:30925
Chand Syndrome	Curly hair, Nail dysplasia	OMIM:214350
Systemic Capillary Leak Syndrome	Renal insufficiency, Leukocytosis, Oliguria, Weight loss, Pancreatitis	ORPHA:188
Branchioskeletogenital Syndrome	Abnormality of the vertebral spinous processes, Absent nipple, Ureteral stenosis, Thoracolumbar k...	ORPHA:1299
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Hiatus hernia, Reduced bone mineral density, Scoliosis, Nail dysplasia, Sparse hair	OMIM:616682
Wolf-Hirschhorn Syndrome	Accessory spleen, Vertebral fusion, Sacral dimple, Decreased muscle mass, Hypospadias, Small for ...	OMIM:194190
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Facial telangiectasia, Hepatic ...	ORPHA:97287
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis, High anterior hairline, Hypohidrosis	OMIM:615510
Cerebellofaciodental Syndrome	Short stature, Short neck, Sparse eyebrow, Fine hair, Scoliosis	OMIM:616202
Branchiooculofacial Syndrome	Hypospadias, Facial palsy, Supernumerary nipple, Short neck, Hyperlordosis, Kyphosis, Postnatal g...	OMIM:113620
Medullary Thyroid Carcinoma	Hyperhidrosis, Weight loss, Lymphadenopathy, Abnormal liver parenchyma morphology	ORPHA:1332
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Woolly hair	OMIM:607450
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Short stature, Overweight, Kyphosis, Flexion contracture, Scoliosis, Micropenis, Failure to thrive	ORPHA:500055
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss	ORPHA:99978
Beckwith-Wiedemann Syndrome	Ureteral duplication, Redundant skin, Congenital diaphragmatic hernia, Cardiomegaly, Large for ge...	ORPHA:116
Limb-Mammary Syndrome	Alopecia, Absent nipple, Sparse eyebrow, Hypohidrosis, Bilateral breast hypoplasia, Breast aplasi...	ORPHA:69085
Dyrk1A-Related Intellectual Disability Syndrome	Failure to thrive, Multiple joint contractures, Hypospadias, Small for gestational age, Unilatera...	ORPHA:464306
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Hyperhidrosis, T...	ORPHA:71493
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc...	OMIM:603903
8P23.1 Microdeletion Syndrome	Hypospadias, Short stature, Congenital diaphragmatic hernia, Short neck, Obesity, Weight loss, Gr...	ORPHA:251071
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis	OMIM:128100
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Pachyonychia Congenita 3	Plantar hyperkeratosis, Onychogryposis of toenails, Hyperhidrosis, Palmoplantar keratoderma, Nail...	OMIM:615726
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Curly hair, Failure to thrive in infancy, Sparse eyebrow, Dysplastic corpus callosum, Patent duct...	ORPHA:500150
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis	OMIM:618531
Cono-Spondylar Dysplasia	Short nail, Short neck, Kyphosis, Scoliosis, Failure to thrive	ORPHA:420794
Alström Syndrome	Thoracic scoliosis, Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis...	ORPHA:64
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis, Skeletal muscle atrophy, Knee flexion contracture	OMIM:603387
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Hirschsprung Disease	Failure to thrive in infancy, Short stature, Weight loss	ORPHA:388
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire...	OMIM:233710
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Short stature, Kyphosis, Synophrys, Bilateral camptodactyly, Growth delay, Scoliosis	OMIM:619557
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Inguinal hernia, Hypospadias, Trichiasis, Sparse eyebrow, Kyphosis, Ectodermal dysplasia, Thin ey...	OMIM:609944
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ...	ORPHA:100080
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Progeroid facial appearance, Flexion contracture, Absence of sub...	OMIM:614098
Nephroblastoma	Hematuria, Neoplasm of the liver, Weight loss, Lymphadenopathy	ORPHA:654
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Cranial hyperostosis, Renal hypoplasia, Scoliosis, Lipoma	OMIM:612918
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Absent eyebrow, Thin fingernail, Porokeratosis, Hypospadias, Tarsal synostosis, Abnormal dental e...	ORPHA:85199
Loeys-Dietz Syndrome 2	Joint laxity, Dermal translucency, Inguinal hernia, Craniosynostosis, Osteoporosis, Scoliosis, Ca...	OMIM:610168
Renpenning Syndrome 1	Brittle hair, Hypospadias, Short stature, Phimosis, Renal hypoplasia, Scoliosis, Camptodactyly, S...	OMIM:309500
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ...	ORPHA:100075
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Short stature, Kyphosis, Elbow flexion contracture, Obesity, Scoliosis, Finger j...	OMIM:618493
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Cyanosis, Intraalveolar phospholipid accumulation, We...	ORPHA:747
Anaplastic Thyroid Carcinoma	Weight loss, Abnormal skeletal muscle morphology, Lymphadenopathy	ORPHA:142
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire...	OMIM:233690
Oculopharyngodistal Myopathy 1	Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentration, Weight los...	OMIM:164310
Cole-Carpenter Syndrome	Short stature, Recurrent fractures, Abnormal dental enamel morphology, Kyphosis, Abnormal form of...	ORPHA:2050
Alexander Disease	Osteopenia, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Hyperhidrosis, Scoliosis, Failure ...	ORPHA:58
White Sponge Nevus 2	Hyperparakeratosis	OMIM:615785
Granulomatosis With Polyangiitis	Renal insufficiency, Ureteral stenosis, Proteinuria, Elevated circulating C-reactive protein conc...	ORPHA:900
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Weight loss	OMIM:613239
Inherited Creutzfeldt-Jakob Disease	Amyloidosis of peripheral nerves	ORPHA:282166
Bullous Pemphigoid	Urticaria, Erythema, Weight loss	ORPHA:703
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis, Limb hypertonia	ORPHA:500180
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Renal insufficiency, Hydroureter, Hypospadias, Short ...	ORPHA:84
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Sacral dimple, Redundant neck skin, Short stature, Short neck, Renal hypoplasia, Obesity, Sparse ...	OMIM:617157
Craniopharyngioma	Enlarged pituitary gland, Cerebral calcification, Neoplasm of the anterior pituitary, Pituitary h...	ORPHA:54595
Malignant Peritoneal Mesothelioma	Peritonitis, Ascites, Weight loss	ORPHA:168811
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire...	OMIM:306400
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ...	ORPHA:100082
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Jaundice, Weight loss, Abnormal lymph node morphology,...	ORPHA:677
Pneumocystosis	Weight loss, Abnormal neutrophil count	ORPHA:723
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Robinow Syndrome, Autosomal Dominant 3	Omphalocele, Sacral dimple, Short stature, Short neck, Kyphosis, Long eyelashes, Scoliosis, Campt...	OMIM:616894
Yao Syndrome	Arthritis, Nephrolithiasis, Weight loss	OMIM:617321
Ring Chromosome 13 Syndrome	Alopecia, Hypoplasia of the gallbladder, Hypospadias, Short neck, Growth delay, Urogenital sinus ...	ORPHA:96176
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Short stature, Recurrent fractures, Short neck, Kyphosis, Sco...	ORPHA:140
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Hydroureter, Supernumerary nipple, Short neck, Unilateral renal agenesis, Kyphos...	OMIM:619194
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy, Art...	OMIM:260920
Cowden Syndrome 5	Kyphosis, Scoliosis, Subcutaneous lipoma, Palmoplantar hyperkeratosis	OMIM:615108
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Failure to thrive, Flexion contracture of finger, Hypospadias, Small for gestational age, Unilate...	ORPHA:464311
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Camptodactyly of finger, Short stature, Hyperlordosis, Kyphosis, Scolio...	ORPHA:568
Hemihyperplasia-Multiple Lipomatosis Syndrome	Telangiectasia of the skin, Lipoatrophy, Hyperparakeratosis, Abnormality of the lymphatic system,...	ORPHA:276280
Acromegaly	Abnormal fingernail morphology, Dysuria, Kyphosis, Synophrys, Wide penis, Long penis, Spinal cana...	ORPHA:963
Inflammatory Bowel Disease (Crohn Disease) 1	Growth delay, Weight loss	OMIM:266600
Congenital Tufting Enteropathy	Arthritis, Cholestatic liver disease, Failure to thrive, Weight loss	ORPHA:92050
Classic Pantothenate Kinase-Associated Neurodegeneration	Increased susceptibility to fractures, Weight loss	ORPHA:216866
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Hypopigmentation of hair, Short stature, Widow's peak, Joint hyperflexibility, Coarse hair	ORPHA:1974
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Ectodermal dysplasia, Aplasia of the eccrine sweat glands	OMIM:300291
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
15Q14 Microdeletion Syndrome	Kyphosis, Inguinal hernia, Short stature, Scoliosis	ORPHA:261190
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger	ORPHA:88628
Witteveen-Kolk Syndrome	Medial flaring of the eyebrow, Small for gestational age, Hyperconvex nail, Decreased response to...	OMIM:613406
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Joint laxity, Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Large for gestational age, ...	ORPHA:457359
Choreoacanthocytosis	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	ORPHA:2388
Cowden Syndrome 6	Kyphosis, Scoliosis, Subcutaneous lipoma, Palmoplantar hyperkeratosis	OMIM:615109
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Curly hair, Sacral dimple, Hyperextensible thumb, Joint laxity, Thoracolumbar scolios...	ORPHA:480880
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Poor wound...	OMIM:608203
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Peritonitis, Proteinuria, Renal amyloidosis	OMIM:134610
Developmental Malformations-Deafness-Dystonia Syndrome	Macroglossia, Kyphosis, Short stature, Scoliosis	ORPHA:79107
Neurofibromatosis Type 1	Abnormal hair quantity, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Chronic my...	ORPHA:636
Aspartylglucosaminuria	Hepatomegaly, Inguinal hernia, Aspartylglucosaminuria, Joint stiffness, Splenomegaly, Macroglossi...	ORPHA:93
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormality of the diencephalon, Microcephaly	ORPHA:2165
Acro-Renal-Mandibular Syndrome	Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Intrauterine gro...	ORPHA:958
Perry Syndrome	Weight loss	ORPHA:178509
Lynch Syndrome	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Flexion contracture, Weight loss, Hepatocell...	ORPHA:144
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Hypercalcemia, Jaundice, Erythema, Extrahepatic cholestasis, We...	ORPHA:913
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopath...	OMIM:181000
Autosomal Recessive Ataxia, Beauce Type	Skeletal muscle atrophy, Urinary incontinence, Kyphosis, Scoliosis, Lower limb muscle weakness	ORPHA:88644
Familial Glucocorticoid Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Weight loss, Hypernatriuria, Failure to thrive	ORPHA:361
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss, Lymphadenopathy	ORPHA:411703
Spondyloperipheral Dysplasia	Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Kyphosis, Irregular...	OMIM:271700
Somatomammotropinoma	Abnormal fingernail morphology, Dysuria, Kyphosis, Synophrys, Thickened skin, Osteoarthritis, Spi...	ORPHA:314769
Warburg-Cinotti Syndrome	Poor wound healing, Ankle flexion contracture, Erythema, Elbow flexion contracture, Osteolytic de...	OMIM:618175
Alkaptonuria	Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephrolithiasis, L...	OMIM:203500
Mend Syndrome	Sacral dimple, Short stature, Kyphosis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol,...	ORPHA:401973
Spinocerebellar Ataxia 34	Epidermal hyperkeratosis	OMIM:133190
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis	OMIM:211530
Foxg1 Syndrome Due To 14Q12 Microdeletion	Macroglossia, Kyphosis, Growth delay, Scoliosis	ORPHA:261144
Brachyolmia Type 3	Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondyly, Scoliosis	OMIM:113500
Sotos Syndrome	Ureteral duplication, Flexion contracture, Vesicoureteral reflux, Abnormal vertebral morphology, ...	ORPHA:821
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Familial Keratoacanthoma	Hyperkeratosis, Skin ulcer	ORPHA:493
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis	OMIM:610227
Cutis Laxa, Autosomal Dominant 1	Inguinal hernia, Prematurely aged appearance, Redundant skin, Progeroid facial appearance, Poor w...	OMIM:123700
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Abnormal fingernail morphology, Pyelonephritis, Hypohidrosis, Duplication o...	ORPHA:2036
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Hypospadias, Ankle flexion contracture, Short neck, Craniosynostosis, Postnatal...	OMIM:268300
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Extrahepatic cholestasis, Lymphadenopathy, Hydronephrosis, Iron de...	ORPHA:100078
Marfanoid Habitus With Situs Inversus	Kyphosis, Hyperextensibility of the finger joints, Scoliosis	OMIM:609008
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ketonuria, Moderate albuminuria, Weight loss, Renal tubular dysfunction, Lower...	ORPHA:99885
Holt-Oram Syndrome	Kyphosis, Radioulnar synostosis, Scoliosis, Joint stiffness	ORPHA:392
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Short neck, Flexion contracture, Renal cyst, Camptodactyly of 2n...	OMIM:601803
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Lip telangiectasia, ...	ORPHA:79280
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Short stature, Frontal balding, Renal salt wasting, Long penis, Hyperkalemia, Eleva...	ORPHA:90794
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Joint laxity, Large for gestational age, Sparse eyebrow, Kyphosis, Hyperlordosis, Scoliosis	OMIM:617011
Fatal Familial Insomnia	Hyperhidrosis, Urinary retention, Weight loss	OMIM:600072
Pyomyositis	Recurrent cutaneous abscess formation, Renal insufficiency, Myositis, Leukocytosis, Weight loss	ORPHA:764
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Multiple Endocrine Neoplasia Type 1	Neoplasm of the pancreas, Hypercalcemia, Insulinoma, Nephrolithiasis, Thymoma, Hypercalciuria, We...	ORPHA:652
Chromosome Xq26.3 Duplication Syndrome	Acanthosis nigricans, Kyphosis, Hyperhidrosis	OMIM:300942
Kanzaki Disease	Telangiectasia of the oral mucosa, Increased urinary O-linked sialopeptides, Lip telangiectasia, ...	OMIM:609242
Chand Syndrome	Curly hair, Hydroureter, Hypohidrosis, Nail dysplasia, Dry skin	ORPHA:1401
Monosomy 9Q22.3	Rhabdomyosarcoma, Large for gestational age, Short neck, Kyphosis, Joint hyperflexibility, Abnorm...	ORPHA:77301
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis, Lymphopenia, Knee flexion contracture	OMIM:619708
Granulomatosis With Polyangiitis	Granulomatosis, Skin ulcer, Weight loss	OMIM:608710
Sympathetic Ophthalmia	Alopecia, Erythema, Poliosis	ORPHA:79098
Norrie Disease	Cachexia, Failure to thrive, Scoliosis, Delayed puberty	ORPHA:649
Chromosome Xp11.3 Deletion Syndrome	Short stature, Progeroid facial appearance	OMIM:300578
Cleidocranial Dysplasia 1	Increased bone mineral density, Short stature, Kyphosis, Moderately short stature, Increased susc...	OMIM:119600
Behcet Syndrome	Arthritis, Erythema, Patchy alopecia, Decreased level of D-mannose in urine	OMIM:109650
Menke-Hennekam Syndrome 1	Inguinal hernia, Joint hypermobility, Flexion contracture, Long eyelashes, Scoliosis, Sparse hair...	OMIM:618332
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:91500
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
De Sanctis-Cacchione Syndrome	Severe short stature, Parakeratosis, Cutaneous photosensitivity, Telangiectasia	OMIM:278800
Oromandibular Dystonia	Torticollis, Weight loss	ORPHA:93958
Cap Polyposis	Weight loss	ORPHA:160148
Orofaciodigital Syndrome Iii	Kyphosis, Hyperconvex nail	OMIM:258850
Yunis-Varon Syndrome	Redundant neck skin, Anterior concavity of thoracic vertebrae, Palmoplantar hyperkeratosis, Absen...	OMIM:216340
Neuroocular Syndrome	Hyperextensibility of the finger joints, Sacral dimple, Brittle hair, Scapular winging, Short sta...	OMIM:619539
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Sacral dimple, Inguinal hernia, Hypospadias, Small for gestational age, Unilateral renal agenesis...	ORPHA:268261
Mend Syndrome	Sacral dimple, Redundant neck skin, Short stature, Kyphosis, Ichthyosis, Crossed fused renal ecto...	OMIM:300960
Lymphedema-Distichiasis Syndrome	Yellow nails, Kyphosis, Distichiasis, Cellulitis	OMIM:153400
Liposarcoma	Weight loss	ORPHA:69078
Perry Syndrome	Weight loss	OMIM:168605
Behçet Disease	Renal insufficiency, Myositis, Splenomegaly, Weight loss, Lymphadenopathy, Arthritis, Pancreatitis	ORPHA:117
Malignant Atrophic Papulosis	Peritonitis, Telangiectasia of the skin, Weight loss	ORPHA:679
Nocardiosis	Brain abscess, Liver abscess, Osteomyelitis, Lymphadenitis, Peritonitis, Weight loss, Cellulitis,...	ORPHA:31204
Malt Lymphoma	Mediastinal lymphadenopathy, Hyperhidrosis, Weight loss, Lymphadenopathy, Anemia	ORPHA:52417
Mosaic Trisomy 20	Vertebral fusion, Kyphosis, Spinal canal stenosis, Horseshoe kidney, Fused cervical vertebrae, Ve...	ORPHA:1724
Xeroderma Pigmentosum, Complementation Group B	Cutaneous photosensitivity, Short stature, Progeroid facial appearance	OMIM:610651
Glossopharyngeal Neuralgia	Abnormality of the cervical spine, Weight loss	ORPHA:221098
Postencephalitic Parkinsonism	Kyphosis, Camptocormia	ORPHA:97349
Renal Nutcracker Syndrome	Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria, Anemia	ORPHA:71273
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis	OMIM:106300
Atelis Syndrome 2	Thrombocytopenia, Sacral dimple, Kyphosis, Anemia	OMIM:620185
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Neph...	ORPHA:1018
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr...	ORPHA:103918
Gerstmann-Straussler Disease	Lower limb muscle weakness, Weight loss	OMIM:137440
Hereditary Late-Onset Parkinson Disease	Hypomimic face, Spastic/hyperactive bladder, Weight loss	ORPHA:411602
Acquired Central Diabetes Insipidus	Pollakisuria, Weight loss	ORPHA:95626
Shprintzen Omphalocele Syndrome	Omphalocele, Lumbar hyperlordosis, Short stature, Kyphosis, Scoliosis, Decreased body weight	OMIM:182210
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Retroperitoneal fibrosis, Weight loss, Lymphadenopathy, Tubulointerstitial nephritis, A...	ORPHA:79078
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis	OMIM:177850
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Rett Syndrome, Congenital Variant	Kyphosis, Scoliosis	OMIM:613454
Autosomal Recessive Spastic Paraplegia Type 35	Urinary incontinence, Kyphosis, Enuresis nocturna, Pollakisuria, Lower limb hypertonia, Foot dors...	ORPHA:171629
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Short stature, Kyphosis, Tracheomalacia, Intrauterine growth retard...	ORPHA:1393
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Spondyloepimetaphyseal Dysplasia, X-Linked	Joint laxity, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Disproportionat...	OMIM:300106
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Urinary incontinence, Scoliosis	OMIM:619482

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 Zdhhc13

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 Zdhhc13.

No publications found that use IMPC mice or data for Zdhhc13.

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
Zdhhc13^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Zdhhc13^{em1(IMPC)Ccpcz}	Exon Deletion	Mice

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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