Online Mendelian Inheritance in Humans (OMIM) (2023)

  1. Al-Awadi , SA , Naguib , KK , Farag , TI , Teebi , AS , Cuschieri , A. , Al-Othman , SA , Sundareshan , T.S.Complex translocation involving chromosomes Y, 1 and 3 resulting in deletion of segment 3q23-q25.J. Med. The gene. 23: 91-92, 1986 [PubMed: 3950944] [Full text:]

  2. Alvarado , M. , Bocian , M. , Walker , A.P.Interstitial deletion of the long arm of chromosome 3: case report, review and phenotypic definition.It is me. J. Med. The gene. 27: 781-786, 1987 [PubMed: 3122568] [Full text:]

  3. Amati, P., Chomel, J.-C., Level-Chevalier, A., Gilgenkrantz, S., Kitzis, A., Kaplan, J., Bonneau, D.The gene responsible for blepharophimosis-ptosis-epicanthus inversus syndrome has been mapped to chromosome 3q23.Noise. The gene. 96: 213-215, 1995 [PubMed: 7635472] [Full text:]

  4. Amati P , Gasparini P , Złotogora J , Zelante L , Chomel JC , Kitzis A , Kaplan J , Bonneau D .The gene responsible for premature ovarian failure associated with lid malformations maps to chromosome 3q22-q23. (Letter)It is me. J. Hum. The gene. 58: 1089-1092, 1996. [PubMed: 8651270]

  5. Beysen, D., Raes, J., Leroy, B.P., Lucassen, A., Yates, JRW, Clayton-Smith, J., Ilyina, H., Sklower Brooks, S., Christin-Maitre, S., Fellous, M., Fryns, JP, Kim, JR i 11 innych.Deletions involving long conserved nongenic sequences upstream and downstream of FOXL2 as a novel pathogenic mechanism in blepharitis blepharitis syndrome.It is me. J. Hum. The gene. 77: 205-218, 2005 [PubMed: 15962237] [Full text:]

  6. Boccone, L., Meloni, A., Falchi, AM, Usai, V., Cao, A.Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with a de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)].It is me. J. Med. The gene. 51: 258-259, 1994 [PubMed: 8074155] [Full text:]

  7. Cai, T., Tagle, DA, Xia, X., Yu, P., On, XX, Li, LY, Xia, JHA new case of unilateral palpebral palpebral syndrome and mental retardation associated with de novo trisomy of chromosome 3q.J. Med. The gene. 34: 772-776, 1997 [PubMed: 9321768] [Full text:]

  8. Chandler, KE, de Die-Smulders, CEM, Engelen, JJM, Schrander, JJPSevere feeding problems and congenital laryngeal stenosis in patients with 3q23 deletion.European J. Pediat. 156:636-638, 1997 [PubMed: 9266197] [Full text:]

  9. Crisponi, L., Deiana, M., Loi, A., Chiappe, F., Uda, M., Amati, P., Bisceglia, L., Zelante, L., Nagaraja, R., Porcu, S., Ristaldi, MS, Marzella, R. and 10 others.The putative jaw transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.Nature Genet. 27: 159-166, 2001. [PubMed: 11175783] [Full text:]

  10. Cunniff, Curtis, M., Hassed, SJ, Hoyme, HEBlepharophimosis: a causally heterogeneous malformation, often associated with developmental disorders.It is me. J. Med. The gene. 75: 52-54, 1998 [PubMed: 9450857] [Full text:<52::aid-ajmg11>; 2-r]

  11. de Almeida JC, Llerena JC Jr, Goncalves Neto JB, Jung M, Martins RR.Another example in favor of placing BPES in 3q2. (Letter)J. Med. The gene. Samo 30: 86, 1993 [PubMed: 8481195] [Full text:]

    (Video) |OMIM|Online Mendelian inheritance in man|omim

  12. De Baere, E., Van Roy, N., Speleman, F., Fukushima, Y., De Paepe, A., Messiaen, L.Approaching the BPES gene at 3q23: mapping the breakpoint of the de novo reciprocal translocation t(3;4)(q23;p15.2) in a 45 kb cosmid and mapping three candidate genes, RBP1, RBP2 and beta-prime-COP , distal to the breakpoints.Genomics 57: 70-78, 1999 [PubMed: 10191085] [Full text:]

  13. de Die-Smulders, CEM, Engelen, JJM, Donk, JM, Fryns, JPFurther evidence for the location of the BPES gene in 3q2. (Letter)J. Med. The gene. 28: 725, 1991 [PubMed: 1941972] [Full text:]

  14. Dimitrij, TJHereditary ptosis.It is me. J. Ophthalmological. 4: 655-658, 1921.

  15. Dollfus, H., Kumaramanickavel, G., Biswas, P., Stoetzel, C., Quillet, R., Denton, M., Maw, M., Perrin-Schmitt, F.Homogeneity of the familial blepharophimosis-ptosis-epicanthus syndrome (BPES) locus at the 3q22 locus and identification of a novel TWIST mutation (7p21) with variable eyelid symptoms.J. Med. The gene. 38: 470-472, 2001 [PubMed: 11474656] [Full text:]

  16. Finley, WH, Callahan, A., Thompson, JNAge of the parents in the eyelids, ptosis, epicanthus inversus, telecanthus complex.It is me. J. Med. The gene. 36: 414-417, 1990 [PubMed: 2389797] [Full text:]

  17. Fraser, IS, Shearman, RP, Smith, A., Russell, P.Relationship between eyelids, refractory ovarian syndrome and true premature menopause.Autumn. Sterile. 50: 747-751, 1988. [PubMed: 3141218] [Full text:]

  18. Fryns, JP, Stromme, P., van den Berghe, H.Further evidence for a blepharoplasty site (BPES) at 3q22.3-q23.Clin. The gene. 44: 149-151, 1993 [PubMed: 8275574] [Full text:]

  19. Fryns, J.P.Coexistence of palpebral blepharospasm, ptosis, epicanthus inversus syndrome (BPES) and mesomelic Langer dwarfism in the same patient: evidence for localization of mesomelic Langer dwarfism to 3q22.3-q23? (Letter)Clin. The gene. 48: 111-112, 1995 [PubMed: 7586651] [Full text:]

  20. Fujita, H., Meng, J., Kawamura, M., Tozuka, N., Ishii, F., Tanaka, N.A boy with del(3)(q12q23) chromosome and blepharospasm.It is me. J. Med. The gene. 44: 434-436, 1992 [PubMed: 1442882] [Full text:]

  21. Fukushima Y., Wakui K., Nishida T., Ueoka Y.Blepharitis (sic) blepharospasm and de novo autosomal balanced translocation [46,XY,t(3;4)(q23;p15.2)]: possible localization of blepharospasm (sic) to 3q23. (Abstract)It is me. J. Hum. The gene. 47: A29, 1990.

  22. Harrar, HS, Jeffery, S., Patton, MALinkage analysis in blepharophimosis-ptosis syndrome confirms localization at 3q21-24.J. Med. The gene. 32: 774-777, 1995 [PubMed: 8558553] [Full text:]

    (Video) Online Mendelian Inheritance in Man (OMIM): A Genetic Disorder Database

  23. Ishikiriyama S., Goto M.Eyelid sequence (BPES) and microcephaly in a girl with del(3)(q22.2q23): a putative microcephaly gene linked to the BPES gene?It is me. J. Med. The gene. 47: 487-489, 1993 [PubMed: 8256811] [Full text:]

  24. Ishikiriyama S., Goto M.Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) and microcephaly. (Letter)It is me. J. Med. The gene. 52: 245, 1994 [PubMed: 7802022] [Full text:]

  25. Jewett, T., Rao, PN, Weaver, RG, Stewart, W., Thomas, IT, Pettenati, MJDel 3q22-linked palpebral palpebral syndrome (BPES): reassignment to the 3q22-q23 band interface. (Abstract)It is me. J. Hum. The gene. 51 (Supplement): A81, 1992.

  26. Jewett, T., Rao, PN, Weaver, RG, Stewart, W., Thomas, IT, Pettenati, MJBlepharophimosis, ptosis and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: review and reassignment to the interface of bands 3q22.3 and 3q23.It is me. J. Med. The gene. 47: 1147-1150, 1993 [PubMed: 8291545] [Full text:]

  27. Johnson, CCSurgical treatment of epicanthus inversus syndrome, blepharophimosis and ptosis.Take a bow. ophthalmological. 71: 510-516, 1964 [PubMed: 14109036] [Full text:]

  28. Jones, Californien, Collin, JROBlepharophimosis and its association with female infertility.British. J. Ophthalmological. 68: 533-534, 1984 [PubMed: 6743620] [Full text:]

  29. Karimi-Nejad, A., Karimi-Nejad, R., Najafi, H., Karimi-Nejad, MHBlepharoplasty (BPES) and additional abnormalities in women with a balanced X:3 translocation. (Letter)Clin. dismorfija. 5: 259-261, 1996. [PubMed: 8818456]

  30. Kaur, I., Hussain, A., Naik, MN, Murthy, R., Honavar, SGMutational spectrum of the forkhead transcription factor (FOXL2) gene in patients with Indian blepharophimosis ptosis epicanthus inversus (BPES) syndrome.British. J. Ophthalmological. 95: 881-886, 2011. [PubMed: 21325395] [Full text:]

  31. Kohn, R., Romano, PEBlepharoptosis, blepharophimosis, epicanthus inversus and telecanthus – a syndrome without a name.It is me. J. Ophthalmological. 72: 625-632, 1971 [PubMed: 5568616] [Full text:]

  32. Lawson, CT, Toomes, C., Fryer, A., Carette, MJM, Taylor, GM, Fukushima, Y., Dixon, MJDefinition of the critical area of ​​the eyelids, ptosis, epicanthus inversus on chromosome 3q23 based on the analysis of chromosomal anomalies.Noise. Molec. The gene. 4: 963-967, 1995 [PubMed: 7633459] [Full text:]

  33. Martsolf, JT, Ray, M.Interstitial deletion of the long arm of chromosome 3.Ann. Genet. 26: 98-99, 1983. [PubMed: 6604494]

    (Video) OMIM Database

  34. Moraine, C., Titeca, C., Delplace, MP, Grenier, B., Lenoel, Y., Ribadeau-Dumas, JL.Familial blepharophimosis and female infertility: pleiotropism or related genes?J Genet. Noise. 24 (suppl.): 125-132, 1976. [PubMed: 1025261]

  35. Nallathambi, J., Moumne, L., De Baere, E., Beysen, D., Usha, K., Sundaresan, P., Veitia, R.A.A novel polyalanine expansion in FOXL2: first evidence for a recessive form of ovarian dysfunction-associated blepharitis syndrome (BPES).Noise. The gene. 121: 107-112, 2007 [PubMed: 17089161] [Full text:]

  36. Okada N., Hasegawa T., Osawa M., Fukuyama Y.A case of de novo 3q interstitial deletion.J. Med. The gene. 24: 305-308, 1987 [PubMed: 3585947] [Full text:]

  37. Oley, C., Baraitser, M.Blepharophimosis, ptosis, epicanthus inversus syndrom (BPES syndrom).J. Med. The gene. 25: 47-51, 1988. [PubMed: 3270326] [Full text:]

  38. Owens, N., Hadley, RC, Kloepfer, HW.Arvelig blepharophimosis, ptosis and inverted epicanthus.J. Int. kol. Surg. 33: 558-574, 1960. [PubMed: 14429566]

  39. Panidis D., Rousso D., Vavilis D., Skiadopoulos S., Kalogeropoulos A.Familial blepharophimosis with ovarian dysfunction.Noise. Reproduction 9: 2034-2037, 1994 [PubMed: 7868670] [Full text:]

  40. Praphanphoj, V., Goodman, BK, Thomas, GH, Niel, KM, Toomes, C., Dixon, MJ, Geraghty, MTMolecular cytogenetic evaluation of patients with translocation (3;21) associated with eyelid ptosis, epicanthus inversus syndrome (BPES).Genomics 65: 67-69, 2000 [PubMed: 10777667] [Full text:]

  41. Pueschel, SM, Barsel-Bowers, G.Dominant hereditary syndrome of congenital malformations with eyelids.J. Pediatrics. 95: 1010-1012, 1979 [PubMed: 501480] [Full text:]

  42. Raviolotta, J.J.personal communication.New Orleans, La. i 1971.

  43. Sacrez, R., Frankfurt, J., Juif, JG, de Grouchy, J.Complicated familial blepharophimosis: a study of Ble family members.Ann. Pediatrician. (Paris) 10: 493-501, 1963. [PubMed: 14095147]

  44. Schmikel, R.D.Adjacent gene assemblies: a component of recognizable assemblies.J. Pediatrics. 109: 231-241, 1986. [PubMed: 3016222] [Full text:]

    (Video) Online Mendelian Inheritance in Man (ClinGen Biocurator Working Group)

  45. Shi, F., Ding, S., Zhao, S., Han, M., Zhuang, Y., Xu, T., Wu, X.Insertion of piggyBac disrupts Foxl2 expression, which mimics BPES syndrome in mice.Noise. Molec. The gene. 23: 3792-3800, 2014 [PubMed: 24565867] [Full text:]

  46. Small, KW, Stalvey, M., Fisher, L., Mullen, L., Dickel, C., Beadles, K., Reimer, R., Lessner, A., Lewis, K., Pericak-Vance, MAPalpebral eyelid syndrome is linked to chromosome 3q.Noise. Molec. The gene. 4: 443-448, 1995 [PubMed: 7795600] [Full text:]

  47. Smith, A., Fraser, IS, Shearman, RP, Russell, P.Blepharophimosis plus ovarian failure: a likely candidate for a continuous gene syndrome.J. Med. The gene. 26: 434-438, 1989 [PubMed: 2746615] [Full text:]

  48. Smith, DWRecognizable patterns of human deformities. Genetic, embryological and clinical aspects.Philadelphia: WB Saunders (ed.) 1970. pp. 114-115 (view, second).

  49. Stoll , C. , Levy , J.M. , Bigel , P. , Frankfurt , J.J.Genetic testing for familial blepharophimosis (autosomal dominant disease).J Genet. Buka. 22: 353-363, 1974. [PubMed: 4461764]

  50. Temple, IK, Baraitser, M.Pitfalls in Counseling Blepharitis Blepharitis, Ptosis, Epicanthus Inversus (BPES).J. Med. The gene. 26: 517-519, 1989 [PubMed: 2769724] [Full text:]

  51. Toomes, C., Dixon, MJ.Purification of a breakpoint translocation associated with blepharophimosis-ptosis-epicanthus inversus syndrome to a 280-kb span on chromosome 3q23.Genomics 53: 308-314, 1998 [PubMed: 9799597] [Full text:]

  52. Townes, PL, Muechler, EKBlepharophimosis, ptosis, inverted epicanthus and primary amenorrhoea.Take a bow. ophthalmological. 97: 1664-1666, 1979 [PubMed: 475637] [Full text:]

  53. Vinova loza, (NI).Hereditary epicanthus.ophthalmologist Reverend Gen. 8:438, 1889.

  54. Vincent, AL, Watkins, WJ, Sloan, BH, Shelling, ANBlepharophimosis and bilateral Duane syndrome associated with FOXL2 mutation.Clin. The gene. 68: 520–523, 2005 [PubMed: 16283882] [Full text:]

  55. Warburg, M., Bugge, M., Brondum-Nielsen, K.Cytogenetic findings indicate heterogeneity in patients with eyelid epicanthus inversus and developmental delay.J. Med. The gene. 32: 19-24, 1995 [PubMed: 7897621] [Full text:]

    (Video) OMIM (Online Mendelian Inheritance in Man) - GANL 401, MUST.

  56. Williamson, RA, Donlan, MA, Dolan, CR, Thuline, HC, Harrison, MT, Hall, JGFamilial insertional translocation of part 3q in 11q resulting in duplication and deletion of the 3q22.1-q24 region in various offspring.It is me. J. Med. The gene. 9: 105-111, 1981 [PubMed: 7258223] [Full text:]

  57. Wolstenholme, J., Brown, J., Masters, K.G., Wright, C., Engels, C.J.Eyelid sequence and diaphragmatic hernia associated with an interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)).J. Med. The gene. 31: 647-648, 1994 [PubMed: 7815425] [Full text:]

  58. Złotogora J., Sagi M., Cohen T.Blepharophimosis, ptosis and epicanthus inversus syndrome: delineation of the two types.It is me. J. Hum. The gene. 35: 1020-1027, 1983. [PubMed: 6613996]


What is online mendelian inheritance in man 614290? ›

Tetrasomy 18p syndrome (Online Mendelian Inheritance in Man 614290) is a very rare chromosomal disorder that is caused by the presence of isochromosome 18p, which is a supernumerary marker composed of two copies of the p arm of chromosome 18.

Who provides OMIM online mendelian inheritance in man? ›

Started by Dr Victor A. McKusick as the definitive reference Mendelian Inheritance in Man, OMIM ( is now distributed electronically by the National Center for Biotechnology Information (NCBI), where it is integrated with the Entrez suite of databases.

What is the OMIM database short note? ›

OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 16,000 genes. OMIM focuses on the relationship between phenotype and genotype.

What is Mendelian inheritance of human disorders? ›

There are five basic modes of inheritance for single-gene diseases: autosomal dominant, autosomal recessive, X-linked dominant, X-linked recessive, and mitochondrial. Genetic heterogeneity is a common phenomenon with both single-gene diseases and complex multi-factorial diseases.

What is an example of Mendelian trait that we find in humans? ›

Examples of human autosomal Mendelian traits include albinism and Huntington's disease. Examples of human X-linked traits include red-green colour blindness and hemophilia.

What is Mendelian inheritance briefly explain? ›

Mendelian inheritance refers to certain patterns of how traits are passed from parents to offspring. These general patterns were established by the Austrian monk Gregor Mendel, who performed thousands of experiments with pea plants in the 19th century.

Who is OMIM funded by? ›

OMIM curation and updating is funded by a grant from the National Human Genome Research Institute (NHGRI) [1U41HG006627].

How do I search OMIM database? ›

OMIM Search Help
  1. OMIM Search Help.
  2. For basic searches, simply enter the terms in the search box and click the 'Search' button: ...
  3. Adding a '+' (plus) operator before specific terms will ensure that these appear in the entries returned: ...
  4. You can search for phrases by adding quotation marks at both ends of the phrase:

Who benefits from OMIM? ›

Description of MIM/OMIM

It consists of full-text overviews of genes and genetic phenotypes, particularly disorders, and is useful to students, researchers, and clinicians.

Why is OMIM important? › provides interactive access to the knowledge repository, including genomic coordinate searches of the gene map, views of genetic heterogeneity of phenotypes in Phenotypic Series, and side-by-side comparisons of clinical synopses.

What is the importance of omim database? ›

The database may be used as a resource for locating literature relevant to inherited conditions, and its numbering system is widely used in the medical literature to provide a unified index for genetic diseases.

How many genes does OMIM cover? ›

It provides concise textual information based on the peer-reviewed biomedical literature on over 15,500 genes, 26,200 allelic variants, and 7,800 genetic phenotypes.

What are the three types of Mendelian inheritance? ›

Three major patterns of Mendelian inheritance for disease traits are described: autosomal dominant, autosomal recessive, and X-linked (Figure 1.1). Mendelian inheritance patterns refer to observable traits, not to genes.

What are the 3 principles of Mendelian genetics? ›

Mendel's laws include the Law of Dominance and Uniformity, the Law of Segregation, and the Law of Independent Assortment.

What is the most common Mendelian disorder? ›

Examples of Mendelian Disorders in Humans
  • Sickle cell anemia.
  • Thalassemia.
  • Cystic fibrosis.
  • Colour blindness.
  • Haemophilia.
  • Skeletal dysplasia.
  • Muscular dystrophy.
  • Phenylketonuria.

What human traits do not follow Mendelian genetics? ›

The 4 non-Mendelian inheritance examples include multiple allele traits, co-dominance, polygenic traits, sex-linked inheritance, and incomplete dominance.

Do Mendelian laws apply to human beings? ›

Human genes do follow Mendelian laws. However, humans are not peas. Although I tried to explain eye color inheritance as a single gene system, scientists now believe that two or three genes are involved in eye color determination./dnaftb/concept_13/con13anigene.

Do Mendelian traits occur in everyone? ›

The answer to that question is no, but many organisms do indeed show inheritance patterns similar to the seminal ones described by Mendel in the pea.

Why is Mendelian inheritance important? ›

Mendel's principles of genetic inheritance helped us identify genes for Mendelian disorders. Early understanding of the genetic underpinnings of human diseases came from studying their inheritance patterns in families (pedigree analysis).

What is Mendel's first law of inheritance? ›

Mendel's First Law - the law of segregation; during gamete formation each member of the allelic pair separates from the other member to form the genetic constitution of the gamete.

Who owns my genome? ›

Every cell in your body contains your complete genetic code, or genome, which comprises all of your DNA and thus all of your genes. Some portions of the genome are essential for life, so they are shared between all people.

What is the OMIM gene identifier? ›

OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, under the direction of Dr. Ada Hamosh.

How much is my genome worth? ›

By some estimates, a person's genome may be worth up to $50,000. The Direct To Consumer genetics companies know the value of genetic data. Their business models are determined by the value of the data that they can commercialize.

What database do I need to find genes? ›

The Genome Database (GDB, ) is a public repository of data on human genes, clones, STSs, polymorphisms and maps. GDB entries are highly cross-linked to each other, to literature citations and to entries in other databases, including the sequence databases, OMIM, and the Mouse Genome Database.

Which database contains information on mendelian disorders? ›

OMIM contains information on all known mendelian disorders and over 15,000 genes. OMIM is based on the peer-reviewed biomedical literature.

Is OMIM a primary database? ›

Online Mendelian Inheritance in Man (OMIM), a continuation of Dr Victor A. McKusick's Mendelian Inheritance in Man (MIM) (1), is the primary repository of comprehensive, curated information on genes and genetic phenotypes and the relationships between them.

What can someone do with your genome? ›

DNA contains adequate amount of information about someone and it can be used for many purposes such as establishing paternity, proving genealogical connections or even unmasking private medical conditions.
See also
  • Genetic testing.
  • Genetic privacy.
  • Bioethics.
  • Forensic testing.

What is the major gene database funded by the US government? ›

GenBank is the NIH genetic sequence database, an annotated collection of all publicly available DNA sequences.

Who funds the Human Genome Project? ›

The Human Genome Project? was a publicly funded project that brought scientists together from across the globe. Support and funding from the Department of Energy and US National Institutes of Health and later in the UK from the Medical Research Council and Wellcome Trust enabled the project to run on a huge scale.

Is OMIM a NCBI database? ›

Started by Dr Victor A. McKusick as the definitive reference Mendelian Inheritance in Man, OMIM ( is now distributed electronically by the National Center for Biotechnology Information, where it is integrated with the Entrez suite of databases.

What is the source material for OMIM? ›

The primary source material for OMIM is the published literature. The scientific staff review sev- eral leading journals that publish major articles in clinical and molecular genetics.

What are three benefits of sequencing the human genome? ›

Molecular Medicine
  • Improved diagnosis of disease.
  • Earlier detection of genetic predispositions to disease.
  • Rational drug design.
  • Gene therapy and control systems for drugs.
  • Pharmacogenomics "custom drugs"
Mar 26, 2019

What is the purpose of genetic databases? ›

A genetic database is one or more sets of genetic data (genes, gene products, variants, phenotypes) stored together with software to enable users to retrieve genetic data, add genetic data and extract information from the data.

Why are genetic databases important? ›

Genomic databases allow for the storing, sharing and comparison of data across research studies, across data types, across individuals and across organisms.

Why is genome analysis necessary? ›

The ability to read the genomic profile of an individual, in conjunction with understanding their environment, is critical in helping us to predict the likelihood of these diseases occurring, as well as to identify individuals that may be predisposed to certain risk factors.

How many genes can be found in a human genome? ›

An international research effort called the Human Genome Project, which worked to determine the sequence of the human genome and identify the genes that it contains, estimated that humans have between 20,000 and 25,000 genes.

What are OMIM alleles? ›

OMIM is a compendium of human genes and genetic phenotypes. The full-text, referenced overviews in OMIM contain information on all known Mendelian disorders and over 12,000 genes.

Which genome has the most genes? ›

Scientists have discovered that the animal with the most genes--about 31,000--is the near-microscopic freshwater crustacean Daphnia pulex, or water flea. By comparison, humans have about 23,000 genes. Daphnia is the first crustacean to have its genome sequenced.

Is Mendelian genetics accurate? ›

A number of Mendel's statements are argued to be unrealistic in terms of practical pea genetics, suggesting that his text does not represent a strictly accurate description of his experimental methods.

What are 4 examples of Mendelian traits? ›

These traits include:
  • Ability to taste phenylthiocarbamide.
  • Albinism.
  • Blood type.
  • Brachydactyly (Shortness of fingers and toes)
  • Cheek dimples.
  • Cleft chin.
  • Free or attached earlobes.
  • Wet or dry earwax.

What are the 4 types of Mendelian genetics? ›

There are four basic types of Mendelian inheritance patterns: autosomal dominant, autosomal recessive, X-linked recessive, and X-linked dominant.

What genes are inherited from father only? ›

All men inherit a Y chromosome from their father, which means all traits that are only found on the Y chromosome come from dad, not mom. The Supporting Evidence: Y-linked traits follow a clear paternal lineage.

What are the two rules of Mendelian genetics? ›

Mendel's Laws of Heredity are usually stated as:
  • The Law of Segregation: Each inherited trait is defined by a gene pair. ...
  • The Law of Independent Assortment: Genes for different traits are sorted separately from one another so that the inheritance of one trait is not dependent on the inheritance of another.

What are the four exceptions to Mendel's law? ›

Multiple alleles, incomplete dominance, and codominance (article) Pleiotropy and lethal alleles (article) Sex-linked traits (video)

Is ADHD a Mendelian disorder? ›

ADHD has been considered a complex genetic trait based upon a phenotype ranging from mildly to severely affected and familial clustering without clearly recognizable Mendelian segregation.

Is autism a Mendelian trait? ›

Although the underlying genetic architecture of ASD's is not yet known, the literature demonstrates that it is not, writ large, a monogenic disorder with Mendelian inheritance, but rather a group of complex genetic syndromes with risk deriving from genetic variations in multiple genes.

What is the best example of a Mendelian trait in humans? ›

An example of the mendelian trait in humans is Phenylketonuria: It is an example of a Mendelian trait, this disorder is transmitted from parents to the offspring when both parents are heterozygous (Aa) and both are homozygous (aa) conditions.

What is Mendelian inheritance quizlet? ›

"Mendelian inheritance", named after Gregor Mendel, refers to the transmission of inherited characters from generation to generation through the transmission of genes. Mendelian, or 'unifactorial', inheritance refers to disorders that are due to the predominant effects of a single mutant gene.

What is Mendelian inheritance in man Wiki? ›

Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship.

What is Mendelian population with reference to man? ›

Specifically, a Mendelian population is a group of individuals who interbreed among themselves according to a certain system of mating and form a breeding community. These individuals share a common gene pool that is the total genic content of the group.

What are the Mendelian principles in human genetics? ›

Mendel's conclusion was that every studied trait in offspring was dictated by a pair of factors, each being inherited from one parent [15]. Based on Mendel's research, three main principles were established, known as Mendel's laws of uniformity , gametes segregation, and independent assortment [15].

What are the four Mendelian inheritance? ›

There are four basic types of Mendelian inheritance patterns: autosomal dominant, autosomal recessive, X-linked recessive, and X-linked dominant. Autosomal inheritance patterns suggest that the gene responsible for the phenotype is located on one of the twenty-two pairs of autosomes (non-sex determining chromosomes).

Which of the following is an example of Mendelian inheritance quizlet? ›

Widow's peak hairline, tongue rolling, and hitchhiker's thumb, as well as diseases such as Huntington disease, sickle-cell disease, and hemophilia A, are considered human traits that follow Mendelian inheritance patterns.

What is the Mendelian rule quizlet? ›

Mendels' first law. The Law of Segregation states that the two alleles of a given gene will be separate from one another during gamete formation (meiosis).

Is Mendelian inheritance a theory? ›

In the 1860's, an Austrian monk named Gregor Mendel introduced a new theory of inheritance based on his experimental work with pea plants.

Are Mendelian genetics real? ›

Mendelian inheritance (also known as Mendelism) is a type of biological inheritance following the principles originally proposed by Gregor Mendel in 1865 and 1866, re-discovered in 1900 by Hugo de Vries and Carl Correns, and later popularized by William Bateson.

Are there Mendelian traits in humans? ›

There are many different Mendelian traits in humans. Some examples include dimples, freckles, ability to taste PTC, cleft chin, albinism, hitchhiker's thumb, and more.

Can we apply Mendel's law for humans? ›

Yes, Mendel's law applies the human beings also. Any two difficulties that Mendel would have faced if he had carried his experiments on human beings instead of pea plants are: - Human beings have long term life cycle. It is impossible to observe many generations.


1. Database of Mendelian traits in humans and animals | OMIM and OMIA
(Genomics Boot Camp)
(Joseph Ross)
3. OMIM A Dictionary of Human Genetic Diseases - BiomedGlobal Briefs
4. OMIM Presentation
(JSU Bioinformatics)
5. OMIM part 1
(Kelvin Ex Machina)
(Febby Payva)
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